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
OR2T4	127074	broad.mit.edu	37	1	248525048	248525049	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248525048_248525049CC>AT	uc001ieh.1	+	1	166_167	c.166_167CC>AT	c.(166-168)CCA>ATA	p.P56I		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	56	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---	capture		Missense_Mutation	DNP	248525048	248525049	11433	1	CC	AT	AT	30	30	OR2T4	AT	2	2
MAPK8	5599	broad.mit.edu	37	10	49628312	49628313	+	Missense_Mutation	DNP	CG	TT	TT			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49628312_49628313CG>TT	uc009xnz.2	+	6	789_790	c.565_566CG>TT	c.(565-567)CGC>TTC	p.R189F	MAPK8_uc001jgl.2_Missense_Mutation_p.R189F|MAPK8_uc001jgm.2_Missense_Mutation_p.R189F|MAPK8_uc001jgo.2_Missense_Mutation_p.R189F|MAPK8_uc009xoa.2_Missense_Mutation_p.R189F|MAPK8_uc001jgn.2_Missense_Mutation_p.R189F|MAPK8_uc010qgk.1_Missense_Mutation_p.R189F|MAPK8_uc001jgp.2_Missense_Mutation_p.R189F|MAPK8_uc001jgq.2_Missense_Mutation_p.R189F	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	189	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)														---	---	---	---	capture		Missense_Mutation	DNP	49628312	49628313	9666	10	CG	TT	TT	31	31	MAPK8	TT	1	1
BIVM	54841	broad.mit.edu	37	13	103492203	103492204	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:103492203_103492204TG>AT	uc001vps.2	+	11	2179_2180	c.1500_1501TG>AT	c.(1498-1503)GATGGG>GAATGG	p.500_501DG>EW	BIVM_uc010agc.2_Missense_Mutation_p.278_279DG>EW|ERCC5_uc001vpu.1_Intron|BIVM_uc001vpv.2_Missense_Mutation_p.271_272DG>EW	NM_017693	NP_060163	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif	500_501						cytoplasm|nucleus					0	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)																	---	---	---	---	capture		Missense_Mutation	DNP	103492203	103492204	1466	13	TG	AT	AT	51	51	BIVM	AT	4	4
PKHD1	5314	broad.mit.edu	37	6	51907739	51907740	+	Missense_Mutation	DNP	GG	CT	CT			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51907739_51907740GG>CT	uc003pah.1	-	27	3290_3291	c.3014_3015CC>AG	c.(3013-3015)GCC>GAG	p.A1005E	PKHD1_uc003pai.2_Missense_Mutation_p.A1005E	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1005	IPT/TIG 4.|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	DNP	51907739	51907740	12396	6	GG	CT	CT	47	47	PKHD1	CT	3	3
P4HA3	283208	broad.mit.edu	37	11	74013462	74013462	+	Frame_Shift_Del	DEL	G	-	-			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74013462delG	uc001ouz.2	-	3	562	c.519delC	c.(517-519)CCCfs	p.P173fs	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Frame_Shift_Del_p.P173fs	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	173						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)																	---	---	---	---	capture_indel		Frame_Shift_Del	DEL	74013462	74013462	11771	11	G	-	-	47	47	P4HA3	-	5	5
ZBTB16	7704	broad.mit.edu	37	11	114112921	114112921	+	Frame_Shift_Del	DEL	G	-	-			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114112921delG	uc001pop.2	+	5	1750	c.1486delG	c.(1486-1488)GGGfs	p.G496fs	ZBTB16_uc001poq.2_Frame_Shift_Del_p.G496fs	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	496	C2H2-type 4.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)														---	---	---	---	capture_indel		Frame_Shift_Del	DEL	114112921	114112921	18112	11	G	-	-	47	47	ZBTB16	-	5	5
ADAMTS7	11173	broad.mit.edu	37	15	79056289	79056289	+	Frame_Shift_Del	DEL	C	-	-			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79056289delC	uc002bej.3	-	21	4783	c.4572delG	c.(4570-4572)TGGfs	p.W1524fs		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1524	TSP type-1 7.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	79056289	79056289	272	15	C	-	-	18	18	ADAMTS7	-	5	5
TP53	7157	broad.mit.edu	37	17	7578458	7578458	+	Frame_Shift_Del	DEL	G	-	-			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578458delG	uc002gim.2	-	5	666	c.472delC	c.(472-474)CGCfs	p.R158fs	TP53_uc002gig.1_Frame_Shift_Del_p.R158fs|TP53_uc002gih.2_Frame_Shift_Del_p.R158fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.R26fs|TP53_uc010cng.1_Frame_Shift_Del_p.R26fs|TP53_uc002gii.1_Frame_Shift_Del_p.R26fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R158fs|TP53_uc010cni.1_Frame_Shift_Del_p.R158fs|TP53_uc002gij.2_Frame_Shift_Del_p.R158fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.R65fs|TP53_uc002gio.2_Frame_Shift_Del_p.R26fs|TP53_uc010vug.1_Frame_Shift_Del_p.R119fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	158	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158H(58)|p.R158L(53)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.V157_R158delVR(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.R158F(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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_indel		Frame_Shift_Del	DEL	7578458	7578458	16923	17	G	-	-	39	39	TP53	-	5	5
NTN5	126147	broad.mit.edu	37	19	49174065	49174066	+	Frame_Shift_Ins	INS	-	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49174065_49174066insT	uc002pkb.2	-	2	274_275	c.178_179insA	c.(178-180)ACCfs	p.T60fs	SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|NTN5_uc002pkc.2_Frame_Shift_Ins_p.T60fs	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	netrin 5 precursor	60						extracellular region				large_intestine(1)|pancreas(1)	2																		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	49174065	49174066	11108	19	-	T	T	44	44	NTN5	T	5	5
PRDM16	63976	broad.mit.edu	37	1	3328212	3328212	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3328212G>T	uc001akf.2	+	9	1531	c.1451G>T	c.(1450-1452)GGC>GTC	p.G484V	PRDM16_uc001akc.2_Missense_Mutation_p.G484V|PRDM16_uc001akd.2_Missense_Mutation_p.G484V|PRDM16_uc001ake.2_Missense_Mutation_p.G484V|PRDM16_uc009vlh.2_Missense_Mutation_p.G185V	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	484	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)				T	EVI1	MDS|AML								---	---	---	---	capture		Missense_Mutation	SNP	3328212	3328212	12899	1	G	T	T	42	42	PRDM16	T	2	2
CLSTN1	22883	broad.mit.edu	37	1	9791432	9791432	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:9791432C>A	uc001aqh.2	-	18	3339	c.2580G>T	c.(2578-2580)GCG>GCT	p.A860A	CLSTN1_uc001aqi.2_Silent_p.A850A|CLSTN1_uc010oag.1_Silent_p.A841A|CLSTN1_uc001aqf.2_Silent_p.A96A	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	860	Helical; (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---	capture		Silent	SNP	9791432	9791432	3699	1	C	A	A	31	31	CLSTN1	A	1	1
MTOR	2475	broad.mit.edu	37	1	11187830	11187830	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11187830A>C	uc001asd.2	-	44	6188	c.6067T>G	c.(6067-6069)TGG>GGG	p.W2023G	MTOR_uc001asc.2_Missense_Mutation_p.W228G	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2023					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---	capture		Missense_Mutation	SNP	11187830	11187830	10347	1	A	C	C	7	7	MTOR	C	4	4
EPHB2	2048	broad.mit.edu	37	1	23240007	23240007	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23240007A>T	uc009vqj.1	+	16	3050	c.2905A>T	c.(2905-2907)AAC>TAC	p.N969Y	EPHB2_uc001bge.2_Missense_Mutation_p.N970Y|EPHB2_uc001bgf.2_Missense_Mutation_p.N969Y|EPHB2_uc010odu.1_Missense_Mutation_p.N911Y	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	969	Cytoplasmic (Potential).|SAM.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)										Hereditary_Prostate_Cancer				---	---	---	---	capture		Missense_Mutation	SNP	23240007	23240007	5368	1	A	T	T	9	9	EPHB2	T	4	4
TRIM63	84676	broad.mit.edu	37	1	26383788	26383788	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26383788C>A	uc001bli.1	-	7	1021	c.885G>T	c.(883-885)CTG>CTT	p.L295L		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	muscle specific ring finger protein 1	295	COS.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Silent	SNP	26383788	26383788	17084	1	C	A	A	21	21	TRIM63	A	2	2
HMGB4	127540	broad.mit.edu	37	1	34330035	34330035	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34330035G>T	uc001bxp.2	+	2	1986	c.243G>T	c.(241-243)AAG>AAT	p.K81N	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_Missense_Mutation_p.K7N	NM_145205	NP_660206	Q8WW32	HMGB4_HUMAN	HMG2 like isoform 1	81						nucleus	DNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)																---	---	---	---	capture		Missense_Mutation	SNP	34330035	34330035	7519	1	G	T	T	33	33	HMGB4	T	2	2
SNIP1	79753	broad.mit.edu	37	1	38019758	38019758	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38019758C>A	uc001cbi.2	-	1	146	c.73G>T	c.(73-75)GCG>TCG	p.A25S	SNIP1_uc010oid.1_RNA|DNALI1_uc001cbj.2_5'Flank|DNALI1_uc010oie.1_5'Flank	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	25					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)																---	---	---	---	capture		Missense_Mutation	SNP	38019758	38019758	15348	1	C	A	A	26	26	SNIP1	A	2	2
CDC20	991	broad.mit.edu	37	1	43825396	43825396	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43825396G>A	uc001cix.2	+	4	432	c.331G>A	c.(331-333)GAA>AAA	p.E111K	CDC20_uc001ciy.2_Missense_Mutation_p.E111K	NM_001255	NP_001246	Q12834	CDC20_HUMAN	cell division cycle 20	111					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---	capture		Missense_Mutation	SNP	43825396	43825396	3187	1	G	A	A	41	41	CDC20	A	2	2
CYP4X1	260293	broad.mit.edu	37	1	47504418	47504418	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47504418G>T	uc001cqt.2	+	7	1112	c.862G>T	c.(862-864)GAT>TAT	p.D288Y	CYP4X1_uc001cqr.2_Missense_Mutation_p.D287Y|CYP4X1_uc001cqs.2_Missense_Mutation_p.D223Y	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	288						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	47504418	47504418	4358	1	G	T	T	41	41	CYP4X1	T	2	2
C1orf173	127254	broad.mit.edu	37	1	75055611	75055611	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75055611T>C	uc001dgg.2	-	12	2099	c.1880A>G	c.(1879-1881)GAT>GGT	p.D627G	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.D421G	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	627	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	75055611	75055611	2081	1	T	C	C	50	50	C1orf173	C	4	4
EVI5	7813	broad.mit.edu	37	1	92979449	92979449	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92979449C>A	uc001dox.2	-	18	2207	c.2197G>T	c.(2197-2199)GGA>TGA	p.G733*	EVI5_uc010otf.1_Nonsense_Mutation_p.G744*	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	733	Targeting to the centrosomes.|Interaction with AURKB and INCENP.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)														---	---	---	---	capture		Nonsense_Mutation	SNP	92979449	92979449	5482	1	C	A	A	24	24	EVI5	A	5	2
COL11A1	1301	broad.mit.edu	37	1	103355028	103355028	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:103355028C>A	uc001dul.2	-	59	4765	c.4447G>T	c.(4447-4449)GGA>TGA	p.G1483*	COL11A1_uc001duk.2_Nonsense_Mutation_p.G679*|COL11A1_uc001dum.2_Nonsense_Mutation_p.G1495*|COL11A1_uc001dun.2_Nonsense_Mutation_p.G1444*|COL11A1_uc009weh.2_Nonsense_Mutation_p.G1367*	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1483	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		Nonsense_Mutation	SNP	103355028	103355028	3805	1	C	A	A	24	24	COL11A1	A	5	2
CSF1	1435	broad.mit.edu	37	1	110466223	110466223	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110466223G>T	uc001dyu.2	+	6	1393	c.980G>T	c.(979-981)AGG>ATG	p.R327M	CSF1_uc001dyt.2_Missense_Mutation_p.R327M|CSF1_uc001dyv.3_Intron|CSF1_uc001dyw.3_Missense_Mutation_p.R327M	NM_172212	NP_757351	P09603	CSF1_HUMAN	colony stimulating factor 1 isoform a precursor	327	Lumenal (Potential).				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)												OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	110466223	110466223	4072	1	G	T	T	35	35	CSF1	T	2	2
CTTNBP2NL	55917	broad.mit.edu	37	1	112999425	112999425	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112999425A>T	uc001ebx.2	+	6	1539	c.1311A>T	c.(1309-1311)TTA>TTT	p.L437F	CTTNBP2NL_uc001ebz.2_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	437						actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---	capture		Missense_Mutation	SNP	112999425	112999425	4205	1	A	T	T	16	16	CTTNBP2NL	T	4	4
MTMR11	10903	broad.mit.edu	37	1	149901565	149901565	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149901565G>T	uc001etl.3	-	16	2142	c.1891C>A	c.(1891-1893)CAG>AAG	p.Q631K	SF3B4_uc001etj.1_5'Flank|SF3B4_uc001etk.1_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.1_Missense_Mutation_p.Q559K	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	631	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)															---	---	---	---	capture		Missense_Mutation	SNP	149901565	149901565	10333	1	G	T	T	47	47	MTMR11	T	2	2
THEM4	117145	broad.mit.edu	37	1	151861829	151861829	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151861829C>T	uc001ezj.1	-	3	486	c.307G>A	c.(307-309)GAA>AAA	p.E103K	THEM4_uc001ezk.1_RNA	NM_053055	NP_444283	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	103					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane					0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---	capture		Missense_Mutation	SNP	151861829	151861829	16386	1	C	T	T	32	32	THEM4	T	2	2
S100A11	6282	broad.mit.edu	37	1	152006196	152006196	+	Silent	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152006196A>G	uc001ezn.2	-	2	204	c.84T>C	c.(82-84)GAT>GAC	p.D28D	uc001ezm.1_Intron	NM_005620	NP_005611	P31949	S10AB_HUMAN	S100 calcium binding protein A11	28	1; low affinity (Potential).|EF-hand 1.				negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction	cytoplasm|nucleus|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding				0	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)															---	---	---	---	capture		Silent	SNP	152006196	152006196	14253	1	A	G	G	8	8	S100A11	G	4	4
FLG2	388698	broad.mit.edu	37	1	152328465	152328465	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152328465G>T	uc001ezw.3	-	3	1870	c.1797C>A	c.(1795-1797)GGC>GGA	p.G599G	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	599	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---	capture		Silent	SNP	152328465	152328465	6161	1	G	T	T	34	34	FLG2	T	2	2
YY1AP1	55249	broad.mit.edu	37	1	155657886	155657886	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155657886G>T	uc001fln.2	-	2	178	c.154C>A	c.(154-156)CTC>ATC	p.L52I	YY1AP1_uc010pgi.1_Missense_Mutation_p.L124I|YY1AP1_uc001flh.2_Missense_Mutation_p.L124I|YY1AP1_uc009wqt.2_5'UTR|YY1AP1_uc001flk.2_5'UTR|YY1AP1_uc001fll.2_Intron|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_5'UTR|YY1AP1_uc001fli.2_5'UTR|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_5'UTR|YY1AP1_uc009wqw.2_5'UTR|YY1AP1_uc001flo.2_Intron|YY1AP1_uc001flp.2_Intron|YY1AP1_uc010pgj.1_Missense_Mutation_p.L52I|YY1AP1_uc009wqx.2_Missense_Mutation_p.L124I|YY1AP1_uc010pgk.1_Missense_Mutation_p.L124I|DAP3_uc001flq.2_5'Flank|DAP3_uc001flr.2_5'Flank|DAP3_uc001fls.2_5'Flank|DAP3_uc010pgl.1_5'Flank|DAP3_uc001flt.2_5'Flank|DAP3_uc001flu.2_5'Flank|DAP3_uc010pgm.1_5'Flank	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	52					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)																	---	---	---	---	capture		Missense_Mutation	SNP	155657886	155657886	18091	1	G	T	T	33	33	YY1AP1	T	2	2
IQGAP3	128239	broad.mit.edu	37	1	156521850	156521850	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156521850C>A	uc001fpf.2	-	14	1561	c.1486G>T	c.(1486-1488)GGG>TGG	p.G496W	IQGAP3_uc009wsb.1_Missense_Mutation_p.G453W	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	496					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156521850	156521850	8119	1	C	A	A	21	21	IQGAP3	A	2	2
TTC24	164118	broad.mit.edu	37	1	156553167	156553167	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156553167G>T	uc009wsc.1	+	3	377	c.237G>T	c.(235-237)CTG>CTT	p.L79L		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	359	TPR 8.						binding			pancreas(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---	capture		Silent	SNP	156553167	156553167	17246	1	G	T	T	47	47	TTC24	T	2	2
ARHGEF11	9826	broad.mit.edu	37	1	156926247	156926247	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156926247C>A	uc001fqo.2	-	18	2556	c.1516G>T	c.(1516-1518)GAC>TAC	p.D506Y	ARHGEF11_uc001fqn.2_Missense_Mutation_p.D546Y|ARHGEF11_uc001fqp.1_Missense_Mutation_p.D35Y	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	506					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156926247	156926247	910	1	C	A	A	30	30	ARHGEF11	A	2	2
OR10T2	128360	broad.mit.edu	37	1	158369188	158369188	+	Silent	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158369188C>T	uc010pih.1	-	1	69	c.69G>A	c.(67-69)GAG>GAA	p.E23E		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)																	---	---	---	---	capture		Silent	SNP	158369188	158369188	11325	1	C	T	T	28	28	OR10T2	T	2	2
SLAMF6	114836	broad.mit.edu	37	1	160465965	160465965	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160465965G>T	uc001fwe.1	-	2	328	c.268C>A	c.(268-270)CAG>AAG	p.Q90K	SLAMF6_uc001fwd.1_Missense_Mutation_p.Q90K|SLAMF6_uc010pjh.1_Missense_Mutation_p.Q41K|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Missense_Mutation_p.Q41K	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	activating NK receptor precursor	90	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)															---	---	---	---	capture		Missense_Mutation	SNP	160465965	160465965	14863	1	G	T	T	47	47	SLAMF6	T	2	2
NUF2	83540	broad.mit.edu	37	1	163295923	163295923	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:163295923G>T	uc001gcq.1	+	2	382	c.82G>T	c.(82-84)GGT>TGT	p.G28C	NUF2_uc001gcp.2_Missense_Mutation_p.G28C|NUF2_uc001gcr.1_Missense_Mutation_p.G28C|NUF2_uc009wvc.1_Missense_Mutation_p.G28C	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	28	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			ovary(3)|skin(1)	4	all_hematologic(923;0.101)																	---	---	---	---	capture		Missense_Mutation	SNP	163295923	163295923	11152	1	G	T	T	47	47	NUF2	T	2	2
MAEL	84944	broad.mit.edu	37	1	166990397	166990397	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166990397G>T	uc001gdy.1	+	11	1188	c.1117G>T	c.(1117-1119)GGT>TGT	p.G373C	MAEL_uc001gdz.1_Missense_Mutation_p.G342C|MAEL_uc009wvf.1_RNA	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	373					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	166990397	166990397	9531	1	G	T	T	47	47	MAEL	T	2	2
POU2F1	5451	broad.mit.edu	37	1	167301757	167301757	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:167301757G>A	uc001gec.2	+	3	205	c.43G>A	c.(43-45)GGA>AGA	p.G15R	POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_5'UTR|POU2F1_uc001gee.2_Missense_Mutation_p.G15R|POU2F1_uc010plh.1_Missense_Mutation_p.G15R|POU2F1_uc001gef.2_Missense_Mutation_p.G27R	NM_002697	NP_002688	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	15					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|skin(2)|breast(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	167301757	167301757	12701	1	G	A	A	47	47	POU2F1	A	2	2
BAT2L2	23215	broad.mit.edu	37	1	171509367	171509367	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171509367C>T	uc010pmg.1	+	16	3022	c.2756C>T	c.(2755-2757)CCT>CTT	p.P919L	BAT2L2_uc010pmh.1_5'UTR	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	919							protein C-terminus binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	171509367	171509367	1342	1	C	T	T	24	24	BAT2L2	T	2	2
PAPPA2	60676	broad.mit.edu	37	1	176564488	176564488	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176564488T>A	uc001gkz.2	+	3	2912	c.1748T>A	c.(1747-1749)CTT>CAT	p.L583H	PAPPA2_uc001gky.1_Missense_Mutation_p.L583H|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	583	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16																		---	---	---	---	capture		Missense_Mutation	SNP	176564488	176564488	11850	1	T	A	A	56	56	PAPPA2	A	4	4
FAM5B	57795	broad.mit.edu	37	1	177247876	177247876	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:177247876G>A	uc001glf.2	+	7	1502	c.1190G>A	c.(1189-1191)TGC>TAC	p.C397Y	FAM5B_uc010pna.1_Missense_Mutation_p.C147Y|FAM5B_uc001glg.2_Missense_Mutation_p.C292Y	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	397						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	177247876	177247876	5816	1	G	A	A	46	46	FAM5B	A	2	2
C1orf125	126859	broad.mit.edu	37	1	179462086	179462086	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179462086G>C	uc001gmo.2	+	20	2515	c.2388G>C	c.(2386-2388)AAG>AAC	p.K796N	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.K796N|C1orf125_uc009wxh.2_RNA	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	796											0																		---	---	---	---	capture		Missense_Mutation	SNP	179462086	179462086	2060	1	G	C	C	35	35	C1orf125	C	3	3
TDRD5	163589	broad.mit.edu	37	1	179632621	179632621	+	Nonsense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179632621C>T	uc001gnf.1	+	15	2732	c.2482C>T	c.(2482-2484)CAA>TAA	p.Q828*	TDRD5_uc010pnp.1_Nonsense_Mutation_p.Q882*|TDRD5_uc001gnh.1_Nonsense_Mutation_p.Q383*	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	828					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5																		---	---	---	---	capture		Nonsense_Mutation	SNP	179632621	179632621	16260	1	C	T	T	29	29	TDRD5	T	5	2
SMG7	9887	broad.mit.edu	37	1	183518931	183518931	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183518931G>T	uc001gqg.2	+	19	2978	c.2856G>T	c.(2854-2856)GAG>GAT	p.E952D	SMG7_uc001gqf.2_Missense_Mutation_p.E956D|SMG7_uc001gqh.2_Missense_Mutation_p.E906D|SMG7_uc001gqi.2_Missense_Mutation_p.E864D|SMG7_uc010poc.1_Missense_Mutation_p.E960D	NM_173156	NP_775179	Q92540	SMG7_HUMAN	SMG-7 homolog isoform 1	952	Ser-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	183518931	183518931	15296	1	G	T	T	35	35	SMG7	T	2	2
C1orf26	54823	broad.mit.edu	37	1	185143653	185143653	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185143653A>G	uc001grg.3	+	5	488	c.374A>G	c.(373-375)CAT>CGT	p.H125R	C1orf26_uc001grh.3_Missense_Mutation_p.H125R	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	125											0																		---	---	---	---	capture		Missense_Mutation	SNP	185143653	185143653	2109	1	A	G	G	8	8	C1orf26	G	4	4
HMCN1	83872	broad.mit.edu	37	1	186014944	186014944	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186014944C>A	uc001grq.1	+	41	6658	c.6429C>A	c.(6427-6429)CCC>CCA	p.P2143P		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2143	Ig-like C2-type 19.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---	capture		Silent	SNP	186014944	186014944	7511	1	C	A	A	24	24	HMCN1	A	2	2
PLA2G4A	5321	broad.mit.edu	37	1	186946790	186946790	+	Silent	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186946790T>C	uc001gsc.2	+	16	2035	c.1830T>C	c.(1828-1830)TAT>TAC	p.Y610Y	PLA2G4A_uc010pos.1_Silent_p.Y550Y	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	610	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)													---	---	---	---	capture		Silent	SNP	186946790	186946790	12427	1	T	C	C	51	51	PLA2G4A	C	4	4
KIF21B	23046	broad.mit.edu	37	1	200946367	200946367	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200946367T>A	uc001gvs.1	-	31	4615	c.4298A>T	c.(4297-4299)AAT>ATT	p.N1433I	KIF21B_uc001gvr.1_Missense_Mutation_p.N1420I|KIF21B_uc009wzl.1_Missense_Mutation_p.N1433I|KIF21B_uc010ppn.1_Missense_Mutation_p.N1420I	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1433	WD 3.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6																		---	---	---	---	capture		Missense_Mutation	SNP	200946367	200946367	8600	1	T	A	A	52	52	KIF21B	A	4	4
KDM5B	10765	broad.mit.edu	37	1	202711560	202711560	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202711560A>G	uc001gyf.2	-	18	2664	c.2548T>C	c.(2548-2550)TAT>CAT	p.Y850H	KDM5B_uc009xag.2_Missense_Mutation_p.Y886H|KDM5B_uc001gyg.1_Missense_Mutation_p.Y692H	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	850					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	202711560	202711560	8440	1	A	G	G	14	14	KDM5B	G	4	4
PIGR	5284	broad.mit.edu	37	1	207107865	207107865	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207107865G>T	uc001hez.2	-	6	1789	c.1605C>A	c.(1603-1605)ACC>ACA	p.T535T	PIGR_uc009xbz.2_Silent_p.T535T	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	535	Ig-like V-type 5.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	207107865	207107865	12321	1	G	T	T	47	47	PIGR	T	2	2
PIGR	5284	broad.mit.edu	37	1	207107996	207107996	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207107996C>A	uc001hez.2	-	6	1658	c.1474G>T	c.(1474-1476)GAG>TAG	p.E492*	PIGR_uc009xbz.2_Nonsense_Mutation_p.E492*	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	492	Ig-like V-type 5.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	207107996	207107996	12321	1	C	A	A	31	31	PIGR	A	5	1
USH2A	7399	broad.mit.edu	37	1	215848148	215848148	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215848148C>A	uc001hku.1	-	63	13492	c.13105G>T	c.(13105-13107)GCC>TCC	p.A4369S		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4369	Extracellular (Potential).|Fibronectin type-III 29.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---	capture		Missense_Mutation	SNP	215848148	215848148	17598	1	C	A	A	25	25	USH2A	A	2	2
USH2A	7399	broad.mit.edu	37	1	215848713	215848713	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215848713G>T	uc001hku.1	-	63	12927	c.12540C>A	c.(12538-12540)AAC>AAA	p.N4180K		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4180	Extracellular (Potential).|Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---	capture		Missense_Mutation	SNP	215848713	215848713	17598	1	G	T	T	44	44	USH2A	T	2	2
USH2A	7399	broad.mit.edu	37	1	216405331	216405331	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216405331T>A	uc001hku.1	-	14	3344	c.2957A>T	c.(2956-2958)AAA>ATA	p.K986I	USH2A_uc001hkv.2_Missense_Mutation_p.K986I	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	986	Extracellular (Potential).|Laminin EGF-like 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---	capture		Missense_Mutation	SNP	216405331	216405331	17598	1	T	A	A	64	64	USH2A	A	4	4
OBSCN	84033	broad.mit.edu	37	1	228437810	228437810	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228437810G>T	uc009xez.1	+	14	4222	c.4178G>T	c.(4177-4179)AGC>ATC	p.S1393I	OBSCN_uc001hsn.2_Missense_Mutation_p.S1393I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1393	Poly-Ser.|Ig-like 14.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---	capture		Missense_Mutation	SNP	228437810	228437810	11217	1	G	T	T	34	34	OBSCN	T	2	2
KIAA1804	84451	broad.mit.edu	37	1	233507859	233507859	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:233507859G>T	uc001hvt.3	+	6	1889	c.1628G>T	c.(1627-1629)AGT>ATT	p.S543I	KIAA1804_uc001hvs.1_Missense_Mutation_p.S543I	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	543					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)																---	---	---	---	capture		Missense_Mutation	SNP	233507859	233507859	8570	1	G	T	T	36	36	KIAA1804	T	2	2
WDR64	128025	broad.mit.edu	37	1	241901793	241901793	+	Splice_Site	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:241901793T>C	uc001hze.1	+	10	1498	c.1291_splice	c.e10+2	p.G431_splice	WDR64_uc001hzf.1_Splice_Site_p.G151_splice					RecName: Full=WD repeat-containing protein 64;											skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)															---	---	---	---	capture		Splice_Site	SNP	241901793	241901793	17888	1	T	C	C	57	57	WDR64	C	5	4
ZNF670	93474	broad.mit.edu	37	1	247202712	247202712	+	Splice_Site	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247202712C>A	uc001icd.1	-	2	301	c.130_splice	c.e2+1	p.G44_splice	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	NM_033213	NP_149990			zinc finger protein 670						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)															---	---	---	---	capture		Splice_Site	SNP	247202712	247202712	18672	1	C	A	A	18	18	ZNF670	A	5	2
VN1R5	317705	broad.mit.edu	37	1	247419472	247419472	+	Silent	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247419472T>A	uc010pyu.1	+	1	99	c.99T>A	c.(97-99)CCT>CCA	p.P33P		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	vomeronasal 1 receptor 5	33	Cytoplasmic (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)															---	---	---	---	capture		Silent	SNP	247419472	247419472	17748	1	T	A	A	56	56	VN1R5	A	4	4
OR2C3	81472	broad.mit.edu	37	1	247695176	247695176	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247695176C>A	uc009xgy.2	-	2	1000	c.638G>T	c.(637-639)GGG>GTG	p.G213V	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)															---	---	---	---	capture		Missense_Mutation	SNP	247695176	247695176	11399	1	C	A	A	22	22	OR2C3	A	2	2
OR13G1	441933	broad.mit.edu	37	1	247835814	247835814	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247835814T>A	uc001idi.1	-	1	530	c.530A>T	c.(529-531)GAG>GTG	p.E177V		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	177	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)															---	---	---	---	capture		Missense_Mutation	SNP	247835814	247835814	11348	1	T	A	A	54	54	OR13G1	A	4	4
OR2M2	391194	broad.mit.edu	37	1	248343551	248343551	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248343551C>A	uc010pzf.1	+	1	264	c.264C>A	c.(262-264)GGC>GGA	p.G88G		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)															---	---	---	---	capture		Silent	SNP	248343551	248343551	11416	1	C	A	A	25	25	OR2M2	A	2	2
OR2M3	127062	broad.mit.edu	37	1	248366465	248366465	+	Silent	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248366465G>C	uc010pzg.1	+	1	96	c.96G>C	c.(94-96)CTG>CTC	p.L32L		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)															---	---	---	---	capture		Silent	SNP	248366465	248366465	11417	1	G	C	C	47	47	OR2M3	C	3	3
OR2T3	343173	broad.mit.edu	37	1	248637406	248637406	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248637406T>C	uc001iel.1	+	1	755	c.755T>C	c.(754-756)ATA>ACA	p.I252T		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	252	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---	capture		Missense_Mutation	SNP	248637406	248637406	11429	1	T	C	C	49	49	OR2T3	C	4	4
TAF3	83860	broad.mit.edu	37	10	8055717	8055717	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:8055717G>T	uc010qbd.1	+	6	2592	c.2592G>T	c.(2590-2592)CAG>CAT	p.Q864H		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	864					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	8055717	8055717	16046	10	G	T	T	33	33	TAF3	T	2	2
UPF2	26019	broad.mit.edu	37	10	11997498	11997498	+	Silent	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:11997498T>C	uc001ila.2	-	13	3057	c.2583A>G	c.(2581-2583)CAA>CAG	p.Q861Q	UPF2_uc001ilb.2_Silent_p.Q861Q|UPF2_uc001ilc.2_Silent_p.Q861Q|UPF2_uc009xiz.1_Silent_p.Q861Q	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	861	Sufficient for interaction with UPF3A and UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)																---	---	---	---	capture		Silent	SNP	11997498	11997498	17564	10	T	C	C	60	60	UPF2	C	4	4
RPP38	10557	broad.mit.edu	37	10	15145543	15145543	+	Missense_Mutation	SNP	G	T	T	rs141142473		TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15145543G>T	uc001iny.3	+	3	943	c.230G>T	c.(229-231)AGA>ATA	p.R77I	RPP38_uc009xjm.2_Missense_Mutation_p.R77I|RPP38_uc001inx.3_Missense_Mutation_p.R77I	NM_183005	NP_892117	P78345	RPP38_HUMAN	ribonuclease P/MRP 38 subunit	77					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	15145543	15145543	14092	10	G	T	T	33	33	RPP38	T	2	2
NEBL	10529	broad.mit.edu	37	10	21115440	21115440	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:21115440C>T	uc001iqi.2	-	18	2202	c.1805G>A	c.(1804-1806)GGC>GAC	p.G602D	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	602	Nebulin 17.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	21115440	21115440	10702	10	C	T	T	26	26	NEBL	T	2	2
ANKRD26	22852	broad.mit.edu	37	10	27306604	27306604	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27306604C>A	uc001ith.2	-	30	4502	c.4330G>T	c.(4330-4332)GAA>TAA	p.E1444*	ANKRD26_uc001itg.2_Nonsense_Mutation_p.E1131*|ANKRD26_uc009xku.1_Nonsense_Mutation_p.E1445*	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1444	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	27306604	27306604	659	10	C	A	A	29	29	ANKRD26	A	5	2
ZEB1	6935	broad.mit.edu	37	10	31809581	31809581	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:31809581G>A	uc001ivs.3	+	7	1381	c.1318G>A	c.(1318-1320)GAA>AAA	p.E440K	ZEB1_uc001ivr.3_Missense_Mutation_p.E222K|ZEB1_uc010qee.1_Missense_Mutation_p.E222K|ZEB1_uc010qef.1_Missense_Mutation_p.E222K|ZEB1_uc009xlj.1_Missense_Mutation_p.E366K|ZEB1_uc010qeg.1_Missense_Mutation_p.E299K|ZEB1_uc009xlk.1_Missense_Mutation_p.E222K|ZEB1_uc001ivt.3_Missense_Mutation_p.E222K|ZEB1_uc001ivu.3_Missense_Mutation_p.E441K|ZEB1_uc001ivv.3_Missense_Mutation_p.E420K|ZEB1_uc010qeh.1_Missense_Mutation_p.E373K|ZEB1_uc009xlo.1_Missense_Mutation_p.E423K|ZEB1_uc009xlp.2_Missense_Mutation_p.E424K	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	440					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)																---	---	---	---	capture		Missense_Mutation	SNP	31809581	31809581	18211	10	G	A	A	33	33	ZEB1	A	2	2
ANKRD30A	91074	broad.mit.edu	37	10	37508167	37508167	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:37508167C>G	uc001iza.1	+	34	3458	c.3359C>G	c.(3358-3360)ACA>AGA	p.T1120R		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1176	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	37508167	37508167	663	10	C	G	G	17	17	ANKRD30A	G	3	3
GDF2	2658	broad.mit.edu	37	10	48413941	48413941	+	Silent	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:48413941A>T	uc001jfa.1	-	2	1090	c.927T>A	c.(925-927)GCT>GCA	p.A309A		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	309					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	48413941	48413941	6582	10	A	T	T	7	7	GDF2	T	4	4
C10orf71	118461	broad.mit.edu	37	10	50530641	50530641	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50530641C>G	uc010qgp.1	+	3	390	c.51C>G	c.(49-51)AGC>AGG	p.S17R		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	17											0																		---	---	---	---	capture		Missense_Mutation	SNP	50530641	50530641	1651	10	C	G	G	25	25	C10orf71	G	3	3
AGAP7	653268	broad.mit.edu	37	10	51465367	51465367	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:51465367G>C	uc001jio.2	-	7	1215	c.1089C>G	c.(1087-1089)ATC>ATG	p.I363M	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	363	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	51465367	51465367	375	10	G	C	C	41	41	AGAP7	C	3	3
USP54	159195	broad.mit.edu	37	10	75290488	75290488	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75290488G>A	uc001juo.2	-	11	1438	c.1421C>T	c.(1420-1422)CCC>CTC	p.P474L	USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.P474L|USP54_uc010qkl.1_Missense_Mutation_p.P474L	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	474					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)																	---	---	---	---	capture		Missense_Mutation	SNP	75290488	75290488	17649	10	G	A	A	43	43	USP54	A	2	2
LRIT1	26103	broad.mit.edu	37	10	85992438	85992438	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:85992438C>A	uc001kcz.1	-	4	1139	c.1117G>T	c.(1117-1119)GCT>TCT	p.A373S		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	373	Lumenal (Potential).					integral to endoplasmic reticulum membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	85992438	85992438	9320	10	C	A	A	25	25	LRIT1	A	2	2
PANK1	53354	broad.mit.edu	37	10	91405006	91405006	+	Silent	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:91405006C>G	uc001kgp.1	-	1	210	c.54G>C	c.(52-54)GCG>GCC	p.A18A	PANK1_uc001kgn.1_5'Flank|PANK1_uc001kgo.1_5'Flank|PANK1_uc009xtu.1_5'Flank	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	pantothenate kinase 1 isoform alpha	18					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)													---	---	---	---	capture		Silent	SNP	91405006	91405006	11833	10	C	G	G	23	23	PANK1	G	3	3
ENTPD1	953	broad.mit.edu	37	10	97605184	97605184	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97605184G>T	uc001klh.3	+	6	968	c.644G>T	c.(643-645)GGG>GTG	p.G215V	ENTPD1_uc001kle.1_Missense_Mutation_p.G222V|ENTPD1_uc001kli.3_Missense_Mutation_p.G222V|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.G227V|ENTPD1_uc010qok.1_Missense_Mutation_p.G107V|ENTPD1_uc010qol.1_Missense_Mutation_p.G107V|ENTPD1_uc010qom.1_Missense_Mutation_p.G215V|ENTPD1_uc010qon.1_Missense_Mutation_p.G77V|ENTPD1_uc009xva.2_Missense_Mutation_p.G77V|ENTPD1_uc009xuz.2_RNA	NM_001776	NP_001767	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	215	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)														---	---	---	---	capture		Missense_Mutation	SNP	97605184	97605184	5331	10	G	T	T	43	43	ENTPD1	T	2	2
NT5C2	22978	broad.mit.edu	37	10	104854165	104854165	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104854165C>A	uc001kwo.2	-	13	1047	c.861G>T	c.(859-861)TTG>TTT	p.L287F	NT5C2_uc010qqp.1_Missense_Mutation_p.L258F|NT5C2_uc001kwq.2_Missense_Mutation_p.L287F|NT5C2_uc001kwp.2_Missense_Mutation_p.L134F	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	287					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)													---	---	---	---	capture		Missense_Mutation	SNP	104854165	104854165	11092	10	C	A	A	21	21	NT5C2	A	2	2
GPAM	57678	broad.mit.edu	37	10	113924340	113924340	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:113924340G>A	uc009xxy.1	-	13	1448	c.1250C>T	c.(1249-1251)CCG>CTG	p.P417L	GPAM_uc001kzp.2_Missense_Mutation_p.P417L|GPAM_uc001kzq.1_Missense_Mutation_p.P417L	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	417					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)														---	---	---	---	capture		Missense_Mutation	SNP	113924340	113924340	6862	10	G	A	A	39	39	GPAM	A	1	1
NRAP	4892	broad.mit.edu	37	10	115348836	115348836	+	Silent	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115348836C>G	uc001laj.2	-	42	5255	c.5091G>C	c.(5089-5091)CGG>CGC	p.R1697R	HABP2_uc001lai.3_3'UTR|NRAP_uc009xyb.2_Silent_p.R450R|NRAP_uc001lak.2_Silent_p.R1662R|NRAP_uc001lal.3_Silent_p.R1698R	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1697				R -> Q (in Ref. 3; CAD89899).		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		Silent	SNP	115348836	115348836	11043	10	C	G	G	22	22	NRAP	G	3	3
FANK1	92565	broad.mit.edu	37	10	127685989	127685989	+	Silent	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127685989G>A	uc001ljh.3	+	6	578	c.474G>A	c.(472-474)AGG>AGA	p.R158R	FANK1_uc009yan.2_Silent_p.R184R|FANK1_uc001lji.2_Silent_p.R152R	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains	158	ANK 2.					cytoplasm|nucleus				ovary(1)	1		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)																---	---	---	---	capture		Silent	SNP	127685989	127685989	5908	10	G	A	A	42	42	FANK1	A	2	2
PPP2R2D	55844	broad.mit.edu	37	10	133769242	133769242	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:133769242G>T	uc001lks.2	+	7	1281	c.1038G>T	c.(1036-1038)ACG>ACT	p.T346T	PPP2R2D_uc001lkr.2_Silent_p.T152T|PPP2R2D_uc001lkt.2_Silent_p.T152T|PPP2R2D_uc009yay.2_Silent_p.T214T	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	379	WD 6.				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)														---	---	---	---	capture		Silent	SNP	133769242	133769242	12823	10	G	T	T	38	38	PPP2R2D	T	1	1
OR51L1	119682	broad.mit.edu	37	11	5020998	5020998	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5020998G>C	uc010qyu.1	+	1	786	c.786G>C	c.(784-786)ATG>ATC	p.M262I		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	5020998	5020998	11512	11	G	C	C	47	47	OR51L1	C	3	3
OR52A4	390053	broad.mit.edu	37	11	5142501	5142501	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5142501A>G	uc001lzz.1	-	1	308	c.308T>C	c.(307-309)TTT>TCT	p.F103S	OR52A4_uc001maa.2_RNA	NM_001005222	NP_001005222			olfactory receptor, family 52, subfamily A,											ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)														---	---	---	---	capture		Missense_Mutation	SNP	5142501	5142501	11519	11	A	G	G	1	1	OR52A4	G	4	4
UBQLNL	143630	broad.mit.edu	37	11	5537174	5537174	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5537174C>A	uc001maz.3	-	1	783	c.498G>T	c.(496-498)GTG>GTT	p.V166V	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	166										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)														---	---	---	---	capture		Silent	SNP	5537174	5537174	17458	11	C	A	A	29	29	UBQLNL	A	2	2
FAM160A2	84067	broad.mit.edu	37	11	6238899	6238899	+	Silent	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6238899T>A	uc001mcl.3	-	9	2276	c.1917A>T	c.(1915-1917)CCA>CCT	p.P639P	FAM160A2_uc001mck.3_Silent_p.P653P|FAM160A2_uc001mcm.2_Silent_p.P639P	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	639					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2																		---	---	---	---	capture		Silent	SNP	6238899	6238899	5673	11	T	A	A	55	55	FAM160A2	A	4	4
FAM160A2	84067	broad.mit.edu	37	11	6243821	6243821	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6243821T>A	uc001mcl.3	-	6	1401	c.1042A>T	c.(1042-1044)ATC>TTC	p.I348F	FAM160A2_uc001mck.3_Missense_Mutation_p.I348F|FAM160A2_uc001mcm.2_Missense_Mutation_p.I348F	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	348					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	6243821	6243821	5673	11	T	A	A	50	50	FAM160A2	A	4	4
CNGA4	1262	broad.mit.edu	37	11	6261396	6261396	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6261396C>A	uc001mco.2	+	4	479	c.372C>A	c.(370-372)CCC>CCA	p.P124P	CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Silent_p.P84P	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	124	Helical; Name=H3; (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Silent	SNP	6261396	6261396	3737	11	C	A	A	21	21	CNGA4	A	2	2
CCKBR	887	broad.mit.edu	37	11	6290904	6290904	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6290904G>T	uc001mcp.2	+	2	350	c.157G>T	c.(157-159)GAG>TAG	p.E53*	CCKBR_uc001mcq.2_5'UTR|CCKBR_uc001mcr.2_Nonsense_Mutation_p.E53*|CCKBR_uc001mcs.2_Nonsense_Mutation_p.E53*	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	53	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)													---	---	---	---	capture		Nonsense_Mutation	SNP	6290904	6290904	3006	11	G	T	T	41	41	CCKBR	T	5	2
DCHS1	8642	broad.mit.edu	37	11	6661842	6661842	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6661842G>T	uc001mem.1	-	2	1413	c.1003C>A	c.(1003-1005)CGA>AGA	p.R335R		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	335	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Silent	SNP	6661842	6661842	4458	11	G	T	T	40	40	DCHS1	T	1	1
OR6A2	8590	broad.mit.edu	37	11	6816414	6816414	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6816414G>T	uc001mes.1	-	1	726	c.526C>A	c.(526-528)CCC>ACC	p.P176T		NM_003696	NP_003687	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A,	176	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)														---	---	---	---	capture		Missense_Mutation	SNP	6816414	6816414	11596	11	G	T	T	43	43	OR6A2	T	2	2
KCNA4	3739	broad.mit.edu	37	11	30033705	30033705	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:30033705C>A	uc001msk.2	-	2	1673	c.521G>T	c.(520-522)TGT>TTT	p.C174F		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	174						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		Missense_Mutation	SNP	30033705	30033705	8310	11	C	A	A	17	17	KCNA4	A	2	2
PAX6	5080	broad.mit.edu	37	11	31822244	31822244	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:31822244G>A	uc001mtd.3	-	6	1408	c.518C>T	c.(517-519)ACG>ATG	p.T173M	PAX6_uc001mte.3_Missense_Mutation_p.T173M|PAX6_uc001mtg.3_Missense_Mutation_p.T187M|PAX6_uc001mtf.3_Missense_Mutation_p.T173M|PAX6_uc001mth.3_Missense_Mutation_p.T173M|PAX6_uc009yjr.2_Missense_Mutation_p.T173M	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	173	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)													Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				---	---	---	---	capture		Missense_Mutation	SNP	31822244	31822244	11903	11	G	A	A	40	40	PAX6	A	1	1
FOLH1	2346	broad.mit.edu	37	11	49214371	49214371	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:49214371C>A	uc001ngy.2	-	4	748	c.487G>T	c.(487-489)GCT>TCT	p.A163S	FOLH1_uc001ngz.2_Missense_Mutation_p.A163S|FOLH1_uc009yly.2_Missense_Mutation_p.A148S|FOLH1_uc009ylz.2_Missense_Mutation_p.A148S|FOLH1_uc009yma.2_5'UTR|FOLH1_uc001nha.2_Missense_Mutation_p.A148S	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	163	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)													---	---	---	---	capture		Missense_Mutation	SNP	49214371	49214371	6221	11	C	A	A	25	25	FOLH1	A	2	2
OR5D13	390142	broad.mit.edu	37	11	55541493	55541493	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55541493C>A	uc010ril.1	+	1	580	c.580C>A	c.(580-582)CCC>ACC	p.P194T		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	194	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)																---	---	---	---	capture		Missense_Mutation	SNP	55541493	55541493	11564	11	C	A	A	22	22	OR5D13	A	2	2
OR5W2	390148	broad.mit.edu	37	11	55681780	55681780	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55681780G>T	uc010rir.1	-	1	279	c.279C>A	c.(277-279)CCC>CCA	p.P93P		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	55681780	55681780	11595	11	G	T	T	35	35	OR5W2	T	2	2
OR5F1	338674	broad.mit.edu	37	11	55761640	55761640	+	Silent	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55761640C>T	uc010riv.1	-	1	462	c.462G>A	c.(460-462)CTG>CTA	p.L154L		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)																	---	---	---	---	capture		Silent	SNP	55761640	55761640	11568	11	C	T	T	29	29	OR5F1	T	2	2
OR8K5	219453	broad.mit.edu	37	11	55926940	55926940	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55926940A>G	uc010rja.1	-	1	854	c.854T>C	c.(853-855)CTT>CCT	p.L285P		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)																---	---	---	---	capture		Missense_Mutation	SNP	55926940	55926940	11656	11	A	G	G	3	3	OR8K5	G	4	4
OR5T1	390155	broad.mit.edu	37	11	56043811	56043811	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56043811A>T	uc001nio.1	+	1	697	c.697A>T	c.(697-699)ATT>TTT	p.I233F		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)																	---	---	---	---	capture		Missense_Mutation	SNP	56043811	56043811	11591	11	A	T	T	16	16	OR5T1	T	4	4
OR9I1	219954	broad.mit.edu	37	11	57886523	57886523	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57886523A>G	uc001nml.1	-	1	394	c.394T>C	c.(394-396)TAT>CAT	p.Y132H	OR9Q1_uc001nmj.2_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I,	132	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Breast(21;0.0589)																---	---	---	---	capture		Missense_Mutation	SNP	57886523	57886523	11664	11	A	G	G	15	15	OR9I1	G	4	4
OR5B12	390191	broad.mit.edu	37	11	58206843	58206843	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58206843T>A	uc010rkh.1	-	1	782	c.782A>T	c.(781-783)AAC>ATC	p.N261I		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)																---	---	---	---	capture		Missense_Mutation	SNP	58206843	58206843	11558	11	T	A	A	60	60	OR5B12	A	4	4
OR5A1	219982	broad.mit.edu	37	11	59210935	59210935	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59210935G>T	uc001nnx.1	+	1	294	c.294G>T	c.(292-294)GTG>GTT	p.V98V		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Silent	SNP	59210935	59210935	11549	11	G	T	T	47	47	OR5A1	T	2	2
MS4A6E	245802	broad.mit.edu	37	11	60102436	60102436	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60102436A>T	uc001npd.2	+	1	82	c.68A>T	c.(67-69)CAA>CTA	p.Q23L		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member	23	Cytoplasmic (Potential).					integral to membrane	receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	60102436	60102436	10258	11	A	T	T	5	5	MS4A6E	T	4	4
MS4A6E	245802	broad.mit.edu	37	11	60102450	60102450	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60102450G>T	uc001npd.2	+	1	96	c.82G>T	c.(82-84)GAA>TAA	p.E28*		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member	28	Cytoplasmic (Potential).					integral to membrane	receptor activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	60102450	60102450	10258	11	G	T	T	37	37	MS4A6E	T	5	1
MS4A7	58475	broad.mit.edu	37	11	60150658	60150658	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60150658C>A	uc001npe.2	+	2	189	c.44C>A	c.(43-45)ACA>AAA	p.T15K	MS4A7_uc001npf.2_Missense_Mutation_p.T15K|MS4A7_uc001npg.2_Missense_Mutation_p.T15K|MS4A7_uc001nph.2_Missense_Mutation_p.T15K|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.T15K	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member	15	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	60150658	60150658	10259	11	C	A	A	17	17	MS4A7	A	2	2
NXF1	10482	broad.mit.edu	37	11	62568599	62568599	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62568599G>T	uc001nvf.1	-	9	1009	c.873C>A	c.(871-873)CCC>CCA	p.P291P	NXF1_uc001nvg.1_Silent_p.P291P|NXF1_uc009yog.1_Silent_p.P334P|NXF1_uc010rmh.1_Silent_p.P154P	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	291	Interaction with THOC4.|LRR 1.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3																		---	---	---	---	capture		Silent	SNP	62568599	62568599	11187	11	G	T	T	47	47	NXF1	T	2	2
SLC22A9	114571	broad.mit.edu	37	11	63175607	63175607	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63175607T>A	uc001nww.2	+	8	1580	c.1312T>A	c.(1312-1314)TTG>ATG	p.L438M	SLC22A9_uc001nwx.2_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion/cation	438	Helical; (Potential).				transmembrane transport	integral to membrane				breast(2)|large_intestine(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	63175607	63175607	14958	11	T	A	A	64	64	SLC22A9	A	4	4
MOGAT2	80168	broad.mit.edu	37	11	75442217	75442217	+	Silent	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:75442217G>A	uc010rru.1	+	6	891	c.891G>A	c.(889-891)TCG>TCA	p.S297S	MOGAT2_uc010rrv.1_Silent_p.S215S	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	297					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			ovary(2)	2	Ovarian(111;0.103)																	---	---	---	---	capture		Silent	SNP	75442217	75442217	10086	11	G	A	A	39	39	MOGAT2	A	1	1
GRM5	2915	broad.mit.edu	37	11	88338018	88338018	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:88338018C>A	uc001pcq.2	-	4	1462	c.1262G>T	c.(1261-1263)GGC>GTC	p.G421V	GRM5_uc009yvm.2_Missense_Mutation_p.G421V	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	421	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)													---	---	---	---	capture		Missense_Mutation	SNP	88338018	88338018	7079	11	C	A	A	26	26	GRM5	A	2	2
NOX4	50507	broad.mit.edu	37	11	89059961	89059961	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89059961C>A	uc001pct.2	-	18	1939	c.1700G>T	c.(1699-1701)GGG>GTG	p.G567V	NOX4_uc009yvr.2_Missense_Mutation_p.G542V|NOX4_uc001pcu.2_Missense_Mutation_p.G493V|NOX4_uc001pcw.2_Missense_Mutation_p.G260V|NOX4_uc001pcx.2_Missense_Mutation_p.G220V|NOX4_uc001pcv.2_Missense_Mutation_p.G527V|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.G380V|NOX4_uc009yvp.2_Missense_Mutation_p.G331V|NOX4_uc010rtv.1_Missense_Mutation_p.G503V|NOX4_uc009yvq.2_Missense_Mutation_p.G543V	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	567	Cytoplasmic (Potential).|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)																---	---	---	---	capture		Missense_Mutation	SNP	89059961	89059961	10962	11	C	A	A	22	22	NOX4	A	2	2
MTNR1B	4544	broad.mit.edu	37	11	92715302	92715302	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92715302G>A	uc001pdk.1	+	2	1016	c.913G>A	c.(913-915)GCC>ACC	p.A305T		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	305	Helical; Name=7; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)													---	---	---	---	capture		Missense_Mutation	SNP	92715302	92715302	10345	11	G	A	A	46	46	MTNR1B	A	2	2
HEPHL1	341208	broad.mit.edu	37	11	93797542	93797542	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:93797542A>G	uc001pep.2	+	4	831	c.674A>G	c.(673-675)GAG>GGG	p.E225G		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	225	Plastocyanin-like 2.|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	93797542	93797542	7338	11	A	G	G	11	11	HEPHL1	G	4	4
DYNC2H1	79659	broad.mit.edu	37	11	103325989	103325989	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103325989A>T	uc001pho.2	+	86	12676	c.12532A>T	c.(12532-12534)ACA>TCA	p.T4178S	DYNC2H1_uc001phn.1_Missense_Mutation_p.T4185S|DYNC2H1_uc009yxe.1_Missense_Mutation_p.T791S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4178					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---	capture		Missense_Mutation	SNP	103325989	103325989	5032	11	A	T	T	6	6	DYNC2H1	T	4	4
APOC3	345	broad.mit.edu	37	11	116703578	116703578	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116703578C>A	uc001ppt.1	+	4	324	c.278C>A	c.(277-279)CCA>CAA	p.P93Q		NM_000040	NP_000031	P02656	APOC3_HUMAN	apolipoprotein C-III precursor	93	Lipid-binding.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)														---	---	---	---	capture		Missense_Mutation	SNP	116703578	116703578	810	11	C	A	A	21	21	APOC3	A	2	2
DSCAML1	57453	broad.mit.edu	37	11	117308055	117308055	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117308055C>A	uc001prh.1	-	26	4685	c.4683G>T	c.(4681-4683)CAG>CAT	p.Q1561H		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1501	Extracellular (Potential).|Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---	capture		Missense_Mutation	SNP	117308055	117308055	4953	11	C	A	A	24	24	DSCAML1	A	2	2
MFRP	83552	broad.mit.edu	37	11	119215587	119215587	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119215587G>T	uc001pwj.2	-	6	929	c.769C>A	c.(769-771)CGC>AGC	p.R257S	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.R257S	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)														---	---	---	---	capture		Missense_Mutation	SNP	119215587	119215587	9916	11	G	T	T	38	38	MFRP	T	1	1
UBASH3B	84959	broad.mit.edu	37	11	122678809	122678809	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122678809C>A	uc001pyi.3	+	13	2097	c.1737C>A	c.(1735-1737)TCC>TCA	p.S579S		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	579	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)														---	---	---	---	capture		Silent	SNP	122678809	122678809	17397	11	C	A	A	22	22	UBASH3B	A	2	2
OR10G7	390265	broad.mit.edu	37	11	123909083	123909083	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123909083C>A	uc001pzq.1	-	1	626	c.626G>T	c.(625-627)TGC>TTC	p.C209F		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(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;0.0521)														---	---	---	---	capture		Missense_Mutation	SNP	123909083	123909083	11308	11	C	A	A	25	25	OR10G7	A	2	2
OR8A1	390275	broad.mit.edu	37	11	124440836	124440836	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124440836C>G	uc010san.1	+	1	872	c.872C>G	c.(871-873)TCT>TGT	p.S291C		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A,	291	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)														---	---	---	---	capture		Missense_Mutation	SNP	124440836	124440836	11636	11	C	G	G	32	32	OR8A1	G	3	3
PANX3	116337	broad.mit.edu	37	11	124481592	124481592	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124481592T>C	uc001qah.2	+	1	140	c.140T>C	c.(139-141)TTG>TCG	p.L47S		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	47	Helical; (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)														---	---	---	---	capture		Missense_Mutation	SNP	124481592	124481592	11839	11	T	C	C	63	63	PANX3	C	4	4
GLB1L2	89944	broad.mit.edu	37	11	134212647	134212647	+	Splice_Site	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134212647G>T	uc001qhp.2	+	2	275	c.87_splice	c.e2-1	p.R29_splice		NM_138342	NP_612351			galactosidase, beta 1-like 2 precursor						carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)														---	---	---	---	capture		Splice_Site	SNP	134212647	134212647	6697	11	G	T	T	35	35	GLB1L2	T	5	2
IQSEC3	440073	broad.mit.edu	37	12	247987	247987	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:247987G>T	uc001qhw.1	+	1	555	c.549G>T	c.(547-549)CGG>CGT	p.R183R	IQSEC3_uc001qhu.1_Silent_p.R183R|IQSEC3_uc001qht.1_Silent_p.R268R|uc001qhv.1_Intron	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	486					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)														---	---	---	---	capture		Silent	SNP	247987	247987	8122	12	G	T	T	43	43	IQSEC3	T	2	2
SLC6A13	6540	broad.mit.edu	37	12	330116	330116	+	Nonstop_Mutation	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:330116A>G	uc001qic.1	-	15	1860	c.1807T>C	c.(1807-1809)TAG>CAG	p.*603Q	SLC6A13_uc009zdj.1_Nonstop_Mutation_p.*593Q|SLC6A13_uc010sdl.1_Nonstop_Mutation_p.*511Q	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	603					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)															---	---	---	---	capture		Nonstop_Mutation	SNP	330116	330116	15173	12	A	G	G	15	15	SLC6A13	G	5	4
LAG3	3902	broad.mit.edu	37	12	6884475	6884475	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6884475G>T	uc001qqt.3	+	5	1167	c.818G>T	c.(817-819)GGA>GTA	p.G273V	LAG3_uc001qqs.2_Missense_Mutation_p.G273V|LAG3_uc001qqu.2_Missense_Mutation_p.G103V	NM_002286	NP_002277	P18627	LAG3_HUMAN	lymphocyte-activation protein 3 precursor	273	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane	antigen binding|MHC class II protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	6884475	6884475	8923	12	G	T	T	41	41	LAG3	T	2	2
TAS2R19	259294	broad.mit.edu	37	12	11174863	11174863	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11174863C>A	uc010shj.1	-	1	308	c.308G>T	c.(307-309)AGC>ATC	p.S103I	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176888	NP_795369	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	103	Helical; Name=3; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	11174863	11174863	16092	12	C	A	A	28	28	TAS2R19	A	2	2
PRB2	653247	broad.mit.edu	37	12	11546701	11546701	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11546701T>A	uc010shk.1	-	3	346	c.311A>T	c.(310-312)CAA>CTA	p.Q104L		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)															---	---	---	---	capture		Missense_Mutation	SNP	11546701	11546701	12885	12	T	A	A	63	63	PRB2	A	4	4
WBP11	51729	broad.mit.edu	37	12	14947582	14947582	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14947582G>T	uc001rci.2	-	7	771	c.610C>A	c.(610-612)CCT>ACT	p.P204T		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	204	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	14947582	14947582	17830	12	G	T	T	43	43	WBP11	T	2	2
SLCO1B3	28234	broad.mit.edu	37	12	21069129	21069129	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21069129C>G	uc001rek.2	+	15	2183	c.2057C>G	c.(2056-2058)ACA>AGA	p.T686R	SLCO1B3_uc001rel.2_Missense_Mutation_p.T686R|SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	686	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		Missense_Mutation	SNP	21069129	21069129	15221	12	C	G	G	17	17	SLCO1B3	G	3	3
ITPR2	3709	broad.mit.edu	37	12	26775186	26775186	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26775186T>C	uc001rhg.2	-	25	3692	c.3275A>G	c.(3274-3276)CAG>CGG	p.Q1092R		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1092	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---	capture		Missense_Mutation	SNP	26775186	26775186	8225	12	T	C	C	55	55	ITPR2	C	4	4
CCDC91	55297	broad.mit.edu	37	12	28515395	28515395	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:28515395G>T	uc001riq.2	+	6	617	c.601G>T	c.(601-603)GAC>TAC	p.D201Y	CCDC91_uc001rio.2_Missense_Mutation_p.D171Y|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rip.1_Missense_Mutation_p.D201Y|CCDC91_uc001rir.2_Missense_Mutation_p.D39Y|CCDC91_uc009zjl.2_Missense_Mutation_p.D39Y	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	GGA binding partner	201	Potential.				protein transport	Golgi apparatus|membrane				central_nervous_system(1)	1	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)																	---	---	---	---	capture		Missense_Mutation	SNP	28515395	28515395	2995	12	G	T	T	33	33	CCDC91	T	2	2
ABCD2	225	broad.mit.edu	37	12	39967558	39967558	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:39967558C>A	uc001rmb.2	-	9	2389	c.1963G>T	c.(1963-1965)GGA>TGA	p.G655*		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	655	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---	capture		Nonsense_Mutation	SNP	39967558	39967558	62	12	C	A	A	21	21	ABCD2	A	5	2
CNTN1	1272	broad.mit.edu	37	12	41318436	41318436	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:41318436C>A	uc001rmm.1	+	6	591	c.478C>A	c.(478-480)CCC>ACC	p.P160T	CNTN1_uc009zjy.1_Missense_Mutation_p.P160T|CNTN1_uc001rmn.1_Missense_Mutation_p.P149T|CNTN1_uc001rmo.2_Missense_Mutation_p.P160T	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	160	Ig-like C2-type 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)																---	---	---	---	capture		Missense_Mutation	SNP	41318436	41318436	3778	12	C	A	A	22	22	CNTN1	A	2	2
RPAP3	79657	broad.mit.edu	37	12	48090107	48090107	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48090107T>G	uc001rpr.2	-	5	613	c.497A>C	c.(496-498)AAT>ACT	p.N166T	RPAP3_uc010slk.1_Missense_Mutation_p.N7T|RPAP3_uc001rps.2_Missense_Mutation_p.N166T	NM_024604	NP_078880	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3 isoform	166	TPR 2.						binding			ovary(1)	1	Lung SC(27;0.192)																	---	---	---	---	capture		Missense_Mutation	SNP	48090107	48090107	14022	12	T	G	G	52	52	RPAP3	G	4	4
ASB8	140461	broad.mit.edu	37	12	48547152	48547152	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48547152C>A	uc001rrh.2	-	2	297	c.128G>T	c.(127-129)GGG>GTG	p.G43V	ASB8_uc010slr.1_Missense_Mutation_p.G39V	NM_024095	NP_077000	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box-containing 8	43					intracellular signal transduction	cytoplasm|nucleus				kidney(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	48547152	48547152	1047	12	C	A	A	22	22	ASB8	A	2	2
MCRS1	10445	broad.mit.edu	37	12	49952448	49952448	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49952448G>T	uc001ruk.1	-	15	1558	c.1367C>A	c.(1366-1368)GCT>GAT	p.A456D	MCRS1_uc001rui.1_Missense_Mutation_p.A469D|MCRS1_uc001ruj.1_Missense_Mutation_p.A443D|MCRS1_uc001rul.1_Missense_Mutation_p.A456D|MCRS1_uc009zlj.1_Missense_Mutation_p.A265D|MCRS1_uc001rum.1_Missense_Mutation_p.A443D	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 1	456					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	49952448	49952448	9788	12	G	T	T	34	34	MCRS1	T	2	2
KRT3	3850	broad.mit.edu	37	12	53189723	53189723	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53189723G>T	uc001say.2	-	1	170	c.104C>A	c.(103-105)TCT>TAT	p.S35Y		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	35	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	53189723	53189723	8781	12	G	T	T	33	33	KRT3	T	2	2
EIF4B	1975	broad.mit.edu	37	12	53410353	53410353	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53410353C>A	uc001sbh.3	+	2	316	c.110C>A	c.(109-111)CCA>CAA	p.P37Q	EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Missense_Mutation_p.P37Q|EIF4B_uc010snv.1_Missense_Mutation_p.P37Q|EIF4B_uc001sbi.2_5'UTR	NM_001417	NP_001408	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	37					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(1)|kidney(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	53410353	53410353	5218	12	C	A	A	21	21	EIF4B	A	2	2
GPR84	53831	broad.mit.edu	37	12	54756536	54756536	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54756536G>T	uc001sfu.2	-	2	1190	c.1100C>A	c.(1099-1101)CCT>CAT	p.P367H		NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	367	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	54756536	54756536	6989	12	G	T	T	35	35	GPR84	T	2	2
NEUROD4	58158	broad.mit.edu	37	12	55421039	55421039	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55421039C>A	uc001sgp.3	+	2	1194	c.816C>A	c.(814-816)GAC>GAA	p.D272E		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	272					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	55421039	55421039	10750	12	C	A	A	18	18	NEUROD4	A	2	2
OR10P1	121130	broad.mit.edu	37	12	56031355	56031355	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56031355T>C	uc010spq.1	+	1	680	c.680T>C	c.(679-681)CTA>CCA	p.L227P		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	56031355	56031355	11321	12	T	C	C	53	53	OR10P1	C	4	4
METTL7B	196410	broad.mit.edu	37	12	56077616	56077616	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56077616G>T	uc010spr.1	+	2	727	c.518G>T	c.(517-519)TGG>TTG	p.W173L		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	methyltransferase like 7B precursor	173							methyltransferase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	56077616	56077616	9896	12	G	T	T	47	47	METTL7B	T	2	2
PAN2	9924	broad.mit.edu	37	12	56720621	56720621	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56720621C>A	uc001skx.2	-	7	1415	c.1042G>T	c.(1042-1044)GGG>TGG	p.G348W	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.G348W|PAN2_uc001sky.2_Missense_Mutation_p.G348W	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	348					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	56720621	56720621	11831	12	C	A	A	21	21	PAN2	A	2	2
KIF5A	3798	broad.mit.edu	37	12	57957891	57957891	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57957891G>T	uc001sor.1	+	4	500	c.292G>T	c.(292-294)GGA>TGA	p.G98*	KIF5A_uc010srr.1_Intron	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	98	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	57957891	57957891	8616	12	G	T	T	43	43	KIF5A	T	5	2
CAND1	55832	broad.mit.edu	37	12	67700314	67700314	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:67700314G>C	uc001stn.2	+	10	3303	c.2866G>C	c.(2866-2868)GGA>CGA	p.G956R	CAND1_uc001sto.2_Missense_Mutation_p.G466R	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	956	HEAT 22.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)														---	---	---	---	capture		Missense_Mutation	SNP	67700314	67700314	2732	12	G	C	C	35	35	CAND1	C	3	3
CCT2	10576	broad.mit.edu	37	12	69981785	69981785	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69981785G>T	uc001svb.1	+	5	426	c.332G>T	c.(331-333)AGG>ATG	p.R111M	CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.R111M|CCT2_uc010stl.1_Missense_Mutation_p.R64M	NM_006431	NP_006422	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2	111					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)															---	---	---	---	capture		Missense_Mutation	SNP	69981785	69981785	3080	12	G	T	T	35	35	CCT2	T	2	2
RAB3IP	117177	broad.mit.edu	37	12	70150440	70150440	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:70150440G>T	uc001svp.2	+	3	1002	c.555G>T	c.(553-555)CAG>CAT	p.Q185H	RAB3IP_uc001svl.1_Missense_Mutation_p.Q169H|RAB3IP_uc001svm.2_Missense_Mutation_p.Q169H|RAB3IP_uc001svn.2_Missense_Mutation_p.Q169H|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Missense_Mutation_p.Q185H|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein isoform alpha 2	185	Potential.				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)															---	---	---	---	capture		Missense_Mutation	SNP	70150440	70150440	13397	12	G	T	T	33	33	RAB3IP	T	2	2
LGR5	8549	broad.mit.edu	37	12	71833879	71833879	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:71833879G>C	uc001swl.2	+	1	67	c.19G>C	c.(19-21)GGT>CGT	p.G7R	TSPAN8_uc001swk.1_Intron|LGR5_uc001swm.2_Missense_Mutation_p.G7R|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	7						integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	71833879	71833879	9083	12	G	C	C	39	39	LGR5	C	3	3
TRHDE	29953	broad.mit.edu	37	12	72893378	72893378	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72893378A>T	uc001sxa.2	+	6	1580	c.1550A>T	c.(1549-1551)GAT>GTT	p.D517V		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	517	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	72893378	72893378	17023	12	A	T	T	12	12	TRHDE	T	4	4
NAV3	89795	broad.mit.edu	37	12	78513023	78513023	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78513023C>A	uc001syp.2	+	15	3220	c.3047C>A	c.(3046-3048)ACC>AAC	p.T1016N	NAV3_uc001syo.2_Missense_Mutation_p.T1016N|NAV3_uc010sub.1_Missense_Mutation_p.T516N|NAV3_uc009zsf.2_Missense_Mutation_p.T24N	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1016						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---	capture		Missense_Mutation	SNP	78513023	78513023	10581	12	C	A	A	18	18	NAV3	A	2	2
MYF5	4617	broad.mit.edu	37	12	81112685	81112685	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81112685C>G	uc001szg.2	+	3	758	c.623C>G	c.(622-624)TCC>TGC	p.S208C		NM_005593	NP_005584	P13349	MYF5_HUMAN	myogenic factor 5	208					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	81112685	81112685	10422	12	C	G	G	30	30	MYF5	G	3	3
SLC6A15	55117	broad.mit.edu	37	12	85255584	85255584	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85255584T>A	uc001szv.2	-	12	2513	c.2020A>T	c.(2020-2022)ACA>TCA	p.T674S	SLC6A15_uc010sul.1_Missense_Mutation_p.T567S|SLC6A15_uc001szw.1_3'UTR	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	674	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	85255584	85255584	15175	12	T	A	A	57	57	SLC6A15	A	4	4
ALX1	8092	broad.mit.edu	37	12	85674127	85674127	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85674127C>T	uc001tae.3	+	1	92	c.88C>T	c.(88-90)CAC>TAC	p.H30Y		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	30					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(134;0.134)														---	---	---	---	capture		Missense_Mutation	SNP	85674127	85674127	559	12	C	T	T	25	25	ALX1	T	2	2
SLC25A3	5250	broad.mit.edu	37	12	98989309	98989309	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:98989309C>A	uc001tfo.2	+	3	376	c.256C>A	c.(256-258)CTA>ATA	p.L86I	SLC25A3_uc001tfm.2_Intron|SLC25A3_uc001tfn.2_Intron|SLC25A3_uc001tfp.2_Intron|SLC25A3_uc001tfq.2_5'UTR|SLC25A3_uc001tfr.2_Missense_Mutation_p.L86I|SLC25A3_uc001tfs.2_5'UTR|SLC25A3_uc009ztn.2_Intron|SLC25A3_uc001tft.2_Intron	NM_005888	NP_005879	Q00325	MPCP_HUMAN	solute carrier family 25 member 3 isoform a	86	Helical; Name=1; (Potential).|Solcar 1.				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity				0		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)														---	---	---	---	capture		Missense_Mutation	SNP	98989309	98989309	14990	12	C	A	A	32	32	SLC25A3	A	2	2
SCYL2	55681	broad.mit.edu	37	12	100732317	100732317	+	Silent	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100732317G>A	uc001thn.2	+	18	2207	c.2157G>A	c.(2155-2157)TTG>TTA	p.L719L		NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 protein	719	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6																		---	---	---	---	capture		Silent	SNP	100732317	100732317	14433	12	G	A	A	45	45	SCYL2	A	2	2
SLC17A8	246213	broad.mit.edu	37	12	100806574	100806574	+	Missense_Mutation	SNP	C	A	A	rs138338989		TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100806574C>A	uc010svi.1	+	10	1526	c.1213C>A	c.(1213-1215)CTG>ATG	p.L405M	SLC17A8_uc009ztx.2_Missense_Mutation_p.L355M	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	405	Helical; (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	100806574	100806574	14919	12	C	A	A	24	24	SLC17A8	A	2	2
NUP37	79023	broad.mit.edu	37	12	102468805	102468805	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102468805G>T	uc001tjc.2	-	8	906	c.841C>A	c.(841-843)CAA>AAA	p.Q281K		NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	281					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	102468805	102468805	11169	12	G	T	T	45	45	NUP37	T	2	2
RNFT2	84900	broad.mit.edu	37	12	117287248	117287248	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117287248T>C	uc009zwn.2	+	11	1563	c.1330T>C	c.(1330-1332)TAC>CAC	p.Y444H	RNFT2_uc001twb.3_Intron|RNFT2_uc001twa.3_Intron|RNFT2_uc001twc.3_Missense_Mutation_p.Y192H|RNFT2_uc001twd.2_5'Flank	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	transmembrane protein 118 isoform 1	444	Extracellular (Potential).					integral to membrane	zinc ion binding				0	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)														---	---	---	---	capture		Missense_Mutation	SNP	117287248	117287248	13981	12	T	C	C	57	57	RNFT2	C	4	4
NOS1	4842	broad.mit.edu	37	12	117672400	117672400	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117672400C>A	uc001twm.1	-	21	3891	c.3205G>T	c.(3205-3207)GAA>TAA	p.E1069*		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1069	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)													---	---	---	---	capture		Nonsense_Mutation	SNP	117672400	117672400	10944	12	C	A	A	30	30	NOS1	A	5	2
CCDC92	80212	broad.mit.edu	37	12	124422120	124422120	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124422120G>T	uc001ufw.1	-	5	628	c.481C>A	c.(481-483)CAG>AAG	p.Q161K	CCDC92_uc001ufv.1_Missense_Mutation_p.Q144K|CCDC92_uc001ufx.1_Missense_Mutation_p.Q161K|CCDC92_uc001ufy.1_Missense_Mutation_p.Q144K	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	161											0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)														---	---	---	---	capture		Missense_Mutation	SNP	124422120	124422120	2996	12	G	T	T	47	47	CCDC92	T	2	2
SLC15A4	121260	broad.mit.edu	37	12	129299466	129299466	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:129299466G>T	uc001uhu.2	-	2	749	c.696C>A	c.(694-696)TGC>TGA	p.C232*	SLC15A4_uc001uhv.2_RNA|MGC16384_uc001uhw.2_5'Flank	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	solute carrier family 15, member 4	232	Helical; (Potential).				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)														---	---	---	---	capture		Nonsense_Mutation	SNP	129299466	129299466	14896	12	G	T	T	38	38	SLC15A4	T	5	1
TMEM132D	121256	broad.mit.edu	37	12	129569127	129569127	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:129569127G>A	uc009zyl.1	-	6	1892	c.1564C>T	c.(1564-1566)CCC>TCC	p.P522S	TMEM132D_uc001uia.2_Missense_Mutation_p.P60S	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	522	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)														---	---	---	---	capture		Missense_Mutation	SNP	129569127	129569127	16579	12	G	A	A	42	42	TMEM132D	A	2	2
TMEM132D	121256	broad.mit.edu	37	12	129822289	129822289	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:129822289G>C	uc009zyl.1	-	4	1517	c.1189C>G	c.(1189-1191)CAG>GAG	p.Q397E		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	397	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)														---	---	---	---	capture		Missense_Mutation	SNP	129822289	129822289	16579	12	G	C	C	48	48	TMEM132D	C	3	3
PABPC3	5042	broad.mit.edu	37	13	25671601	25671601	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25671601T>C	uc001upy.2	+	1	1326	c.1265T>C	c.(1264-1266)ATT>ACT	p.I422T		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	422					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)														---	---	---	---	capture		Missense_Mutation	SNP	25671601	25671601	11780	13	T	C	C	52	52	PABPC3	C	4	4
BRCA2	675	broad.mit.edu	37	13	32911471	32911471	+	Missense_Mutation	SNP	G	C	C	rs80358544		TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32911471G>C	uc001uub.1	+	11	3206	c.2979G>C	c.(2977-2979)TGG>TGC	p.W993C		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	993	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)				D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			---	---	---	---	capture		Missense_Mutation	SNP	32911471	32911471	1530	13	G	C	C	43	43	BRCA2	C	3	3
HTR2A	3356	broad.mit.edu	37	13	47409740	47409740	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:47409740C>A	uc001vbq.2	-	3	782	c.648G>T	c.(646-648)CAG>CAT	p.Q216H	HTR2A_uc001vbr.2_Missense_Mutation_p.Q116H|HTR2A_uc010acr.2_Missense_Mutation_p.Q216H	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	216	Extracellular (By similarity).				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)													---	---	---	---	capture		Missense_Mutation	SNP	47409740	47409740	7741	13	C	A	A	24	24	HTR2A	A	2	2
PCDH8	5100	broad.mit.edu	37	13	53422133	53422133	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53422133C>A	uc001vhi.2	-	1	642	c.439G>T	c.(439-441)GGT>TGT	p.G147C	PCDH8_uc001vhj.2_Missense_Mutation_p.G147C	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	147	Extracellular (Potential).|Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)														---	---	---	---	capture		Missense_Mutation	SNP	53422133	53422133	11937	13	C	A	A	22	22	PCDH8	A	2	2
DOCK9	23348	broad.mit.edu	37	13	99489835	99489835	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99489835C>A	uc001vnt.2	-	39	4216	c.4161G>T	c.(4159-4161)CTG>CTT	p.L1387L	DOCK9_uc001vnw.2_Silent_p.L1386L|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.L1387L|DOCK9_uc001vnq.2_5'UTR|DOCK9_uc001vnr.2_Silent_p.L30L|DOCK9_uc010tin.1_Silent_p.L30L|DOCK9_uc001vns.2_5'UTR|DOCK9_uc010tio.1_Silent_p.L79L|DOCK9_uc010tip.1_Silent_p.L97L|DOCK9_uc001vnu.1_5'UTR|DOCK9_uc010tiq.1_Silent_p.L365L	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1387					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---	capture		Silent	SNP	99489835	99489835	4878	13	C	A	A	25	25	DOCK9	A	2	2
ABHD13	84945	broad.mit.edu	37	13	108882199	108882199	+	Silent	SNP	A	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:108882199A>C	uc001vqq.2	+	2	898	c.633A>C	c.(631-633)TCA>TCC	p.S211S		NM_032859	NP_116248	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	211						integral to membrane	hydrolase activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)																	---	---	---	---	capture		Silent	SNP	108882199	108882199	79	13	A	C	C	7	7	ABHD13	C	4	4
RASA3	22821	broad.mit.edu	37	13	114784270	114784270	+	Missense_Mutation	SNP	C	A	A	rs151265782		TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114784270C>A	uc001vui.2	-	10	1042	c.911G>T	c.(910-912)CGG>CTG	p.R304L	RASA3_uc010tkk.1_Missense_Mutation_p.R272L|RASA3_uc001vuj.2_5'UTR|RASA3_uc010tkl.1_RNA	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	304					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)															---	---	---	---	capture		Missense_Mutation	SNP	114784270	114784270	13522	13	C	A	A	23	23	RASA3	A	1	1
OXA1L	5018	broad.mit.edu	37	14	23239049	23239049	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23239049G>C	uc001wgn.2	+	4	669	c.669G>C	c.(667-669)CAG>CAC	p.Q223H	OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Missense_Mutation_p.Q223H|OXA1L_uc001wgp.2_Missense_Mutation_p.Q147H|OXA1L_uc001wgq.2_5'UTR	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	163	Mitochondrial intermembrane (Potential).				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)	1	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)														---	---	---	---	capture		Missense_Mutation	SNP	23239049	23239049	11741	14	G	C	C	34	34	OXA1L	C	3	3
HOMEZ	57594	broad.mit.edu	37	14	23745067	23745067	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23745067G>C	uc001wja.2	-	2	1518	c.1370C>G	c.(1369-1371)CCT>CGT	p.P457R	HOMEZ_uc001wjb.2_Missense_Mutation_p.P459R	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	457	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)														---	---	---	---	capture		Missense_Mutation	SNP	23745067	23745067	7573	14	G	C	C	35	35	HOMEZ	C	3	3
DHRS4L1	728635	broad.mit.edu	37	14	24517437	24517437	+	Splice_Site	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24517437T>A	uc010alc.2	+	6	488	c.488_splice	c.e6+2	p.G163_splice	DHRS4L1_uc010tnu.1_RNA	NM_001082488	NP_001075957			dehydrogenase/reductase (SDR family) member 4								binding|oxidoreductase activity				0																		---	---	---	---	capture		Splice_Site	SNP	24517437	24517437	4672	14	T	A	A	57	57	DHRS4L1	A	5	4
G2E3	55632	broad.mit.edu	37	14	31055950	31055950	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31055950G>A	uc001wqk.2	+	3	218	c.64G>A	c.(64-66)GAC>AAC	p.D22N	G2E3_uc010tpe.1_5'UTR|G2E3_uc010tpf.1_5'UTR	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	22					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	31055950	31055950	6391	14	G	A	A	45	45	G2E3	A	2	2
SEC23A	10484	broad.mit.edu	37	14	39514366	39514366	+	Splice_Site	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39514366C>A	uc001wup.1	-	16	2122	c.1899_splice	c.e16+1	p.E633_splice	SEC23A_uc010tqa.1_Splice_Site_p.E519_splice|SEC23A_uc010tqb.1_Splice_Site_p.E604_splice	NM_006364	NP_006355			SEC23-related protein A						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)														---	---	---	---	capture		Splice_Site	SNP	39514366	39514366	14477	14	C	A	A	18	18	SEC23A	A	5	2
FSCB	84075	broad.mit.edu	37	14	44975700	44975700	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:44975700A>G	uc001wvn.2	-	1	800	c.491T>C	c.(490-492)ATA>ACA	p.I164T		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	164						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)														---	---	---	---	capture		Missense_Mutation	SNP	44975700	44975700	6316	14	A	G	G	16	16	FSCB	G	4	4
C14orf106	55320	broad.mit.edu	37	14	45687519	45687519	+	Silent	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45687519A>G	uc001wwf.2	-	12	3267	c.2808T>C	c.(2806-2808)ACT>ACC	p.T936T		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	936					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0																		---	---	---	---	capture		Silent	SNP	45687519	45687519	1786	14	A	G	G	15	15	C14orf106	G	4	4
MDGA2	161357	broad.mit.edu	37	14	47530539	47530539	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:47530539C>A	uc001wwj.3	-	7	1427	c.1231G>T	c.(1231-1233)GAT>TAT	p.D411Y	MDGA2_uc001wwi.3_Missense_Mutation_p.D182Y|MDGA2_uc010ani.2_5'UTR	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	411	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	47530539	47530539	9796	14	C	A	A	30	30	MDGA2	A	2	2
NIN	51199	broad.mit.edu	37	14	51223968	51223968	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51223968G>T	uc001wym.2	-	18	3971	c.3780C>A	c.(3778-3780)GAC>GAA	p.D1260E	NIN_uc001wyi.2_Missense_Mutation_p.D1260E|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.D1266E|NIN_uc001wyo.2_Missense_Mutation_p.D1260E	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1260	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)							T	PDGFRB	MPD								---	---	---	---	capture		Missense_Mutation	SNP	51223968	51223968	10818	14	G	T	T	36	36	NIN	T	2	2
NID2	22795	broad.mit.edu	37	14	52520461	52520461	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52520461G>T	uc001wzo.2	-	5	1499	c.1265C>A	c.(1264-1266)CCC>CAC	p.P422H	NID2_uc010tqs.1_Missense_Mutation_p.P422H|NID2_uc010tqt.1_Missense_Mutation_p.P422H|NID2_uc001wzp.2_Missense_Mutation_p.P422H	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	422						basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)																	---	---	---	---	capture		Missense_Mutation	SNP	52520461	52520461	10816	14	G	T	T	43	43	NID2	T	2	2
SLC10A1	6554	broad.mit.edu	37	14	70245071	70245071	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70245071C>A	uc001xlr.2	-	4	1056	c.922G>T	c.(922-924)GAG>TAG	p.E308*		NM_003049	NP_003040	Q14973	NTCP_HUMAN	solute carrier family 10, member 1	308					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(1)	1				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)														---	---	---	---	capture		Nonsense_Mutation	SNP	70245071	70245071	14868	14	C	A	A	29	29	SLC10A1	A	5	2
RGS6	9628	broad.mit.edu	37	14	72944990	72944990	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:72944990C>A	uc001xna.3	+	12	1330	c.807C>A	c.(805-807)AAC>AAA	p.N269K	RGS6_uc010ttn.1_Missense_Mutation_p.N269K|RGS6_uc001xmx.3_Missense_Mutation_p.N269K|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.N269K|RGS6_uc010ttp.1_Missense_Mutation_p.N200K|RGS6_uc001xmz.1_Missense_Mutation_p.N130K	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	269	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)														---	---	---	---	capture		Missense_Mutation	SNP	72944990	72944990	13783	14	C	A	A	19	19	RGS6	A	1	1
DPF3	8110	broad.mit.edu	37	14	73238597	73238597	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73238597C>A	uc001xnc.2	-	2	50	c.37G>T	c.(37-39)GGG>TGG	p.G13W	DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.G13W|DPF3_uc010ttq.1_Missense_Mutation_p.G23W	NM_012074	NP_036206	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	13					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)														---	---	---	---	capture		Missense_Mutation	SNP	73238597	73238597	4902	14	C	A	A	23	23	DPF3	A	1	1
PROX2	283571	broad.mit.edu	37	14	75329286	75329286	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75329286C>T	uc001xqr.1	-	1	1252	c.1252G>A	c.(1252-1254)GAA>AAA	p.E418K	PROX2_uc001xqq.1_Intron	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	418					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)														---	---	---	---	capture		Missense_Mutation	SNP	75329286	75329286	13004	14	C	T	T	30	30	PROX2	T	2	2
C14orf145	145508	broad.mit.edu	37	14	80993276	80993276	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:80993276C>A	uc001xux.2	-	22	3180	c.3009G>T	c.(3007-3009)AGG>AGT	p.R1003S	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	1003						centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)														---	---	---	---	capture		Missense_Mutation	SNP	80993276	80993276	1797	14	C	A	A	22	22	C14orf145	A	2	2
TRIP11	9321	broad.mit.edu	37	14	92488010	92488010	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92488010C>T	uc001xzy.2	-	4	1266	c.478G>A	c.(478-480)GAT>AAT	p.D160N		NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	160	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)				T	PDGFRB	AML								---	---	---	---	capture		Missense_Mutation	SNP	92488010	92488010	17105	14	C	T	T	31	31	TRIP11	T	1	1
ATG2B	55102	broad.mit.edu	37	14	96775918	96775918	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96775918C>A	uc001yfi.2	-	29	4540	c.4175G>T	c.(4174-4176)GGT>GTT	p.G1392V		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1392										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)														---	---	---	---	capture		Missense_Mutation	SNP	96775918	96775918	1113	14	C	A	A	18	18	ATG2B	A	2	2
RAGE	5891	broad.mit.edu	37	14	102698904	102698904	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102698904C>A	uc001ylm.2	-	9	1060	c.834G>T	c.(832-834)CAG>CAT	p.Q278H	RAGE_uc010txv.1_Missense_Mutation_p.Q248H|RAGE_uc001yln.2_Missense_Mutation_p.Q96H|RAGE_uc001ylh.2_RNA|RAGE_uc001yli.2_RNA|RAGE_uc001yll.2_RNA|RAGE_uc001ylj.2_RNA|RAGE_uc001ylk.2_RNA	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	MAPK/MAK/MRK overlapping kinase	278	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	102698904	102698904	13466	14	C	A	A	24	24	RAGE	A	2	2
AHNAK2	113146	broad.mit.edu	37	14	105408368	105408368	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105408368C>A	uc010axc.1	-	7	13540	c.13420G>T	c.(13420-13422)GGG>TGG	p.G4474W	AHNAK2_uc001ypx.2_Missense_Mutation_p.G4374W	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4474						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	105408368	105408368	418	14	C	A	A	21	21	AHNAK2	A	2	2
NIPA1	123606	broad.mit.edu	37	15	23048951	23048951	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23048951C>G	uc001yvc.2	-	5	893	c.868G>C	c.(868-870)GAC>CAC	p.D290H	NIPA1_uc001yvd.2_Missense_Mutation_p.D120H|NIPA1_uc001yve.2_Missense_Mutation_p.D215H	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN	non-imprinted in Prader-Willi/Angelman syndrome	290	Extracellular (Potential).				cell death	early endosome|integral to membrane|plasma membrane					0		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)														---	---	---	---	capture		Missense_Mutation	SNP	23048951	23048951	10823	15	C	G	G	30	30	NIPA1	G	3	3
RASGRP1	10125	broad.mit.edu	37	15	38794623	38794623	+	Splice_Site	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:38794623C>T	uc001zke.3	-	12	1607	c.1429_splice	c.e12-1	p.S477_splice	RASGRP1_uc010bbe.2_Splice_Site|RASGRP1_uc010bbf.2_Splice_Site_p.S304_splice|RASGRP1_uc010bbg.2_Splice_Site_p.S304_splice|RASGRP1_uc001zkd.3_Splice_Site_p.S442_splice	NM_005739	NP_005730			RAS guanyl releasing protein 1 isoform a						cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			large_intestine(1)|ovary(1)	2		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)														---	---	---	---	capture		Splice_Site	SNP	38794623	38794623	13535	15	C	T	T	20	20	RASGRP1	T	5	2
PAK6	56924	broad.mit.edu	37	15	40564857	40564857	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40564857C>A	uc010bbl.2	+	6	1731	c.1291C>A	c.(1291-1293)CGC>AGC	p.R431S	PAK6_uc010bbm.2_Missense_Mutation_p.R431S|PAK6_uc001zky.3_Missense_Mutation_p.R431S|PAK6_uc010bbn.2_Missense_Mutation_p.R431S|PAK6_uc001zlb.2_Missense_Mutation_p.R431S	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	431	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)														---	---	---	---	capture		Missense_Mutation	SNP	40564857	40564857	11820	15	C	A	A	23	23	PAK6	A	1	1
TMEM87A	25963	broad.mit.edu	37	15	42519099	42519099	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42519099C>A	uc010udd.1	-	15	1467	c.1308G>T	c.(1306-1308)CGG>CGT	p.R436R		NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A isoform 1	436						integral to membrane				ovary(1)	1		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)														---	---	---	---	capture		Silent	SNP	42519099	42519099	16749	15	C	A	A	22	22	TMEM87A	A	2	2
TGM7	116179	broad.mit.edu	37	15	43574172	43574172	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43574172C>G	uc001zrf.1	-	9	1226	c.1221G>C	c.(1219-1221)TGG>TGC	p.W407C		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	407					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)													---	---	---	---	capture		Missense_Mutation	SNP	43574172	43574172	16363	15	C	G	G	26	26	TGM7	G	3	3
CYP19A1	1588	broad.mit.edu	37	15	51503140	51503140	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51503140G>T	uc001zyz.3	-	11	1628	c.1377C>A	c.(1375-1377)CAC>CAA	p.H459Q	CYP19A1_uc001zza.3_Missense_Mutation_p.H459Q	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	459					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)													---	---	---	---	capture		Missense_Mutation	SNP	51503140	51503140	4313	15	G	T	T	40	40	CYP19A1	T	1	1
ADAM10	102	broad.mit.edu	37	15	58891797	58891797	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:58891797C>A	uc002afd.1	-	15	2596	c.2152G>T	c.(2152-2154)GGC>TGC	p.G718C	ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.G417C|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10 precursor	718	Cytoplasmic (Potential).				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			skin(2)	2				GBM - Glioblastoma multiforme(80;0.202)														---	---	---	---	capture		Missense_Mutation	SNP	58891797	58891797	235	15	C	A	A	24	24	ADAM10	A	2	2
DPP8	54878	broad.mit.edu	37	15	65771329	65771329	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65771329C>T	uc002aov.2	-	11	2971	c.1393G>A	c.(1393-1395)GAG>AAG	p.E465K	DPP8_uc002aow.2_Missense_Mutation_p.E465K|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.E449K|DPP8_uc002aoy.2_Missense_Mutation_p.E465K|DPP8_uc002aoz.2_Missense_Mutation_p.E449K|DPP8_uc010bhj.2_Missense_Mutation_p.E465K|DPP8_uc002apa.2_Missense_Mutation_p.E362K|DPP8_uc010bhk.1_Intron	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	465					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	65771329	65771329	4916	15	C	T	T	29	29	DPP8	T	2	2
LCTL	197021	broad.mit.edu	37	15	66857146	66857146	+	Silent	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:66857146G>A	uc002aqc.2	-	2	282	c.150C>T	c.(148-150)TAC>TAT	p.Y50Y	LCTL_uc002aqd.3_Intron|LCTL_uc010bhw.2_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	50	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2																		---	---	---	---	capture		Silent	SNP	66857146	66857146	9018	15	G	A	A	44	44	LCTL	A	2	2
ISLR	3671	broad.mit.edu	37	15	74467411	74467411	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74467411G>T	uc002axg.1	+	2	494	c.212G>T	c.(211-213)AGG>ATG	p.R71M	ISLR_uc002axh.1_Missense_Mutation_p.R71M	NM_005545	NP_005536	O14498	ISLR_HUMAN	immunoglobulin superfamily containing	71	LRR 1.				cell adhesion	extracellular region				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	74467411	74467411	8162	15	G	T	T	35	35	ISLR	T	2	2
FAH	2184	broad.mit.edu	37	15	80478522	80478522	+	Nonsense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:80478522A>T	uc002bfj.2	+	15	1313	c.1231A>T	c.(1231-1233)AAA>TAA	p.K411*	FAH_uc002bfk.1_Nonsense_Mutation_p.K411*|FAH_uc002bfm.1_Nonsense_Mutation_p.K411*|FAH_uc002bfn.1_Nonsense_Mutation_p.K341*	NM_000137	NP_000128	P16930	FAAA_HUMAN	fumarylacetoacetase	411					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding				0														Tyrosinemia_type_1				---	---	---	---	capture		Nonsense_Mutation	SNP	80478522	80478522	5568	15	A	T	T	1	1	FAH	T	5	4
CPEB1	64506	broad.mit.edu	37	15	83218354	83218354	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83218354G>T	uc002bit.2	-	9	1587	c.1450C>A	c.(1450-1452)CAG>AAG	p.Q484K	CPEB1_uc002biq.2_Missense_Mutation_p.Q344K|CPEB1_uc002bir.2_Missense_Mutation_p.Q349K|CPEB1_uc002bis.2_Missense_Mutation_p.Q344K|CPEB1_uc010uod.1_Missense_Mutation_p.Q193K|CPEB1_uc010uoe.1_Missense_Mutation_p.Q422K|CPEB1_uc002biu.2_Missense_Mutation_p.Q446K|CPEB1_uc010uof.1_Missense_Mutation_p.Q344K|CPEB1_uc002biv.2_Missense_Mutation_p.Q419K|CPEB1_uc002bip.2_Missense_Mutation_p.Q193K	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	424	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)															---	---	---	---	capture		Missense_Mutation	SNP	83218354	83218354	3938	15	G	T	T	45	45	CPEB1	T	2	2
ACAN	176	broad.mit.edu	37	15	89400176	89400176	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89400176G>A	uc010upo.1	+	12	4734	c.4360G>A	c.(4360-4362)GGA>AGA	p.G1454R	ACAN_uc010upp.1_Missense_Mutation_p.G1454R|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	1454					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)															---	---	---	---	capture		Missense_Mutation	SNP	89400176	89400176	118	15	G	A	A	47	47	ACAN	A	2	2
CRTC3	64784	broad.mit.edu	37	15	91157683	91157683	+	Splice_Site	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91157683A>G	uc002bpp.2	+	7	684	c.578_splice	c.e7-2	p.G193_splice	CRTC3_uc002bpo.2_Splice_Site_p.G193_splice	NM_022769	NP_073606			transducer of regulated CREB protein 3 isoform						interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)					T	MAML2	salivary gland mucoepidermoid								---	---	---	---	capture		Splice_Site	SNP	91157683	91157683	4040	15	A	G	G	15	15	CRTC3	G	5	4
ARRDC4	91947	broad.mit.edu	37	15	98512595	98512595	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:98512595G>T	uc010bom.2	+	5	1027	c.868G>T	c.(868-870)GAC>TAC	p.D290Y	ARRDC4_uc002bui.3_Missense_Mutation_p.D203Y	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	290					signal transduction						0	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)															---	---	---	---	capture		Missense_Mutation	SNP	98512595	98512595	1003	15	G	T	T	41	41	ARRDC4	T	2	2
LRRK1	79705	broad.mit.edu	37	15	101598339	101598339	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101598339G>A	uc002bwr.2	+	29	4991	c.4672G>A	c.(4672-4674)GAG>AAG	p.E1558K	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1558					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)															---	---	---	---	capture		Missense_Mutation	SNP	101598339	101598339	9408	15	G	A	A	41	41	LRRK1	A	2	2
PKD1	5310	broad.mit.edu	37	16	2156207	2156207	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2156207C>A	uc002cos.1	-	19	7797	c.7588G>T	c.(7588-7590)GGC>TGC	p.G2530C	PKD1_uc002cot.1_Missense_Mutation_p.G2530C|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2530	Extracellular (Potential).|REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	2156207	2156207	12387	16	C	A	A	22	22	PKD1	A	2	2
USP7	7874	broad.mit.edu	37	16	8993508	8993508	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8993508C>A	uc002czl.2	-	22	2615	c.2416G>T	c.(2416-2418)GAT>TAT	p.D806Y	USP7_uc010uyk.1_Missense_Mutation_p.D707Y|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.D707Y|USP7_uc002czk.2_Missense_Mutation_p.D790Y	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	806					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	8993508	8993508	17652	16	C	A	A	29	29	USP7	A	2	2
GRIN2A	2903	broad.mit.edu	37	16	9862768	9862768	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:9862768C>A	uc002czo.3	-	12	3083	c.2535G>T	c.(2533-2535)CTG>CTT	p.L845L	GRIN2A_uc010uym.1_Silent_p.L845L|GRIN2A_uc010uyn.1_Silent_p.L688L|GRIN2A_uc002czr.3_Silent_p.L845L	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	845	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---	capture		Silent	SNP	9862768	9862768	7058	16	C	A	A	25	25	GRIN2A	A	2	2
SMG1	23049	broad.mit.edu	37	16	18826808	18826808	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18826808G>T	uc002dfm.2	-	59	10831	c.10468C>A	c.(10468-10470)CAG>AAG	p.Q3490K	SMG1_uc010bwb.2_Missense_Mutation_p.Q3350K|SMG1_uc010bwa.2_Missense_Mutation_p.Q2221K	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	3490					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16																		---	---	---	---	capture		Missense_Mutation	SNP	18826808	18826808	15293	16	G	T	T	47	47	SMG1	T	2	2
SMG1	23049	broad.mit.edu	37	16	18856853	18856853	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18856853C>A	uc002dfm.2	-	39	6480	c.6117G>T	c.(6115-6117)TGG>TGT	p.W2039C	SMG1_uc010bwb.2_Missense_Mutation_p.W1899C|SMG1_uc010bwa.2_Missense_Mutation_p.W770C|SMG1_uc002dfo.3_Missense_Mutation_p.W337C	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2039					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16																		---	---	---	---	capture		Missense_Mutation	SNP	18856853	18856853	15293	16	C	A	A	18	18	SMG1	A	2	2
GPR139	124274	broad.mit.edu	37	16	20043574	20043574	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20043574A>G	uc002dgu.1	-	2	707	c.545T>C	c.(544-546)GTC>GCC	p.V182A	GPR139_uc010vaw.1_Missense_Mutation_p.V89A	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	182	Helical; Name=5; (Potential).					integral to membrane|plasma membrane				ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	20043574	20043574	6922	16	A	G	G	10	10	GPR139	G	4	4
CHP2	63928	broad.mit.edu	37	16	23768853	23768853	+	Silent	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23768853C>G	uc002dmb.1	+	7	963	c.540C>G	c.(538-540)TCC>TCG	p.S180S		NM_022097	NP_071380	O43745	CHP2_HUMAN	hepatocellular carcinoma antigen gene 520	180	EF-hand 4.						calcium ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(48;0.0144)														---	---	---	---	capture		Silent	SNP	23768853	23768853	3501	16	C	G	G	24	24	CHP2	G	3	3
CACNG3	10368	broad.mit.edu	37	16	24373064	24373064	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24373064G>T	uc002dmf.2	+	4	2028	c.828G>T	c.(826-828)ATG>ATT	p.M276I		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	276					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)														---	---	---	---	capture		Missense_Mutation	SNP	24373064	24373064	2674	16	G	T	T	47	47	CACNG3	T	2	2
SEZ6L2	26470	broad.mit.edu	37	16	29906726	29906726	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29906726C>G	uc002duq.3	-	5	947	c.707G>C	c.(706-708)GGA>GCA	p.G236A	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.G166A|SEZ6L2_uc002dur.3_Missense_Mutation_p.G166A|SEZ6L2_uc002dus.3_Intron|SEZ6L2_uc010vec.1_Missense_Mutation_p.G236A|SEZ6L2_uc010ved.1_Missense_Mutation_p.G192A	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	236	CUB 1.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	29906726	29906726	14633	16	C	G	G	30	30	SEZ6L2	G	3	3
ITGAL	3683	broad.mit.edu	37	16	30522395	30522395	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30522395G>T	uc002dyi.3	+	24	2900	c.2724G>T	c.(2722-2724)CTG>CTT	p.L908L	ITGAL_uc002dyj.3_Silent_p.L824L|ITGAL_uc010vev.1_Silent_p.L142L	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	908	Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)													---	---	---	---	capture		Silent	SNP	30522395	30522395	8190	16	G	T	T	47	47	ITGAL	T	2	2
FBXL19	54620	broad.mit.edu	37	16	30941629	30941629	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30941629G>T	uc002eab.2	+	7	1243	c.1085G>T	c.(1084-1086)GGC>GTC	p.G362V	FBXL19_uc002dzz.1_Missense_Mutation_p.G50V|FBXL19_uc002eaa.1_Missense_Mutation_p.G261V	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	362							DNA binding|zinc ion binding			ovary(2)|lung(1)|breast(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	30941629	30941629	5952	16	G	T	T	42	42	FBXL19	T	2	2
MMP2	4313	broad.mit.edu	37	16	55530863	55530863	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55530863C>A	uc002ehz.3	+	10	1809	c.1498C>A	c.(1498-1500)CGT>AGT	p.R500S	MMP2_uc010vhd.1_Missense_Mutation_p.R424S|MMP2_uc010ccc.2_Missense_Mutation_p.R450S|MMP2_uc002eia.3_5'UTR	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	500	Required for inhibitor TIMP2 binding.|Hemopexin-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)													---	---	---	---	capture		Missense_Mutation	SNP	55530863	55530863	10048	16	C	A	A	19	19	MMP2	A	1	1
CPNE2	221184	broad.mit.edu	37	16	57157361	57157361	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57157361G>T	uc002eks.1	+	10	1132	c.903G>T	c.(901-903)CTG>CTT	p.L301L	CPNE2_uc010cct.1_Silent_p.L327L|CPNE2_uc010ccu.1_Silent_p.L301L|CPNE2_uc002ekt.1_5'Flank	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	copine II	301										central_nervous_system(1)|skin(1)	2		all_neural(199;0.224)																---	---	---	---	capture		Silent	SNP	57157361	57157361	3950	16	G	T	T	47	47	CPNE2	T	2	2
FAM65A	79567	broad.mit.edu	37	16	67575411	67575411	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67575411C>A	uc010vjp.1	+	11	1036	c.940C>A	c.(940-942)CTG>ATG	p.L314M	FAM65A_uc010cei.1_Missense_Mutation_p.L136M|FAM65A_uc002eth.2_Missense_Mutation_p.L294M|FAM65A_uc010cej.2_Missense_Mutation_p.L297M|FAM65A_uc002eti.1_Missense_Mutation_p.L257M|FAM65A_uc010vjq.1_Missense_Mutation_p.L308M|FAM65A_uc002etj.1_Missense_Mutation_p.L293M|FAM65A_uc002etk.2_Missense_Mutation_p.L293M	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	298						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)														---	---	---	---	capture		Missense_Mutation	SNP	67575411	67575411	5822	16	C	A	A	24	24	FAM65A	A	2	2
LCAT	3931	broad.mit.edu	37	16	67973873	67973873	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67973873C>A	uc002euy.1	-	6	1268	c.1257G>T	c.(1255-1257)CTG>CTT	p.L419L		NM_000229	NP_000220	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase precursor	419					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)														---	---	---	---	capture		Silent	SNP	67973873	67973873	8981	16	C	A	A	21	21	LCAT	A	2	2
TMCO7	79613	broad.mit.edu	37	16	69074319	69074319	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69074319A>T	uc002ewi.3	+	17	3115	c.3103A>T	c.(3103-3105)ACT>TCT	p.T1035S		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	1035						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)														---	---	---	---	capture		Missense_Mutation	SNP	69074319	69074319	16531	16	A	T	T	14	14	TMCO7	T	4	4
ZNF23	7571	broad.mit.edu	37	16	71483409	71483409	+	Silent	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71483409T>C	uc002faf.2	-	6	1333	c.519A>G	c.(517-519)TTA>TTG	p.L173L	ZNF23_uc002fad.2_Silent_p.L115L|ZNF23_uc002fae.2_Silent_p.L115L|ZNF23_uc010vmf.1_Silent_p.L115L|ZNF23_uc002fag.2_Silent_p.L115L|ZNF23_uc002fah.2_Silent_p.L173L|ZNF23_uc002fai.2_Silent_p.L212L	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23	173	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)														---	---	---	---	capture		Silent	SNP	71483409	71483409	18374	16	T	C	C	53	53	ZNF23	C	4	4
DHX38	9785	broad.mit.edu	37	16	72141386	72141386	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72141386G>T	uc002fcb.2	+	20	3103	c.2748G>T	c.(2746-2748)CCG>CCT	p.P916P	DHX38_uc010vmp.1_Silent_p.P228P	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	916					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)																---	---	---	---	capture		Silent	SNP	72141386	72141386	4690	16	G	T	T	39	39	DHX38	T	1	1
ZFHX3	463	broad.mit.edu	37	16	72821528	72821528	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72821528C>A	uc002fck.2	-	10	11320	c.10647G>T	c.(10645-10647)GAG>GAT	p.E3549D	uc002fcj.1_Intron|ZFHX3_uc002fcl.2_Missense_Mutation_p.E2635D	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3549	C2H2-type 22.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---	capture		Missense_Mutation	SNP	72821528	72821528	18222	16	C	A	A	20	20	ZFHX3	A	2	2
LDHD	197257	broad.mit.edu	37	16	75149456	75149456	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75149456A>T	uc002fdm.2	-	2	222	c.175T>A	c.(175-177)TCG>ACG	p.S59T	LDHD_uc002fdn.2_Missense_Mutation_p.S59T	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	59							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	75149456	75149456	9027	16	A	T	T	10	10	LDHD	T	4	4
WWOX	51741	broad.mit.edu	37	16	78198080	78198080	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:78198080G>T	uc002ffk.2	+	5	535	c.410G>T	c.(409-411)GGG>GTG	p.G137V	WWOX_uc010vnk.1_Missense_Mutation_p.G24V|WWOX_uc002ffl.2_Missense_Mutation_p.G137V|WWOX_uc010che.2_Intron|WWOX_uc002ffj.1_Missense_Mutation_p.G137V	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	137	NADP (By similarity).|Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity				0		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)														---	---	---	---	capture		Missense_Mutation	SNP	78198080	78198080	17988	16	G	T	T	43	43	WWOX	T	2	2
ATP2C2	9914	broad.mit.edu	37	16	84486818	84486818	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84486818G>T	uc002fhx.2	+	19	1995	c.1906G>T	c.(1906-1908)GAG>TAG	p.E636*	ATP2C2_uc010chj.2_Nonsense_Mutation_p.E636*|ATP2C2_uc002fhy.2_Nonsense_Mutation_p.E653*|ATP2C2_uc002fhz.2_Nonsense_Mutation_p.E485*	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	636	Extracellular (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	84486818	84486818	1163	16	G	T	T	37	37	ATP2C2	T	5	1
OR1G1	8390	broad.mit.edu	37	17	3030761	3030761	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3030761C>T	uc002fvc.1	-	1	85	c.85G>A	c.(85-87)GGG>AGG	p.G29R		NM_003555	NP_003546	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	3030761	3030761	11363	17	C	T	T	21	21	OR1G1	T	2	2
SLC25A11	8402	broad.mit.edu	37	17	4841130	4841130	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4841130G>T	uc002fzo.1	-	8	964	c.851C>A	c.(850-852)CCG>CAG	p.P284Q	SLC25A11_uc002fzp.1_Missense_Mutation_p.P280Q|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	solute carrier family 25 member 11 isoform 1	284	Solcar 3.|Helical; Name=6; (Potential).				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	4841130	4841130	14970	17	G	T	T	39	39	SLC25A11	T	1	1
FXR2	9513	broad.mit.edu	37	17	7507137	7507137	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7507137G>T	uc002gia.1	-	5	614	c.387C>A	c.(385-387)CCC>CCA	p.P129P	FXR2_uc010vud.1_Silent_p.P129P	NM_004860	NP_004851	P51116	FXR2_HUMAN	fragile X mental retardation syndrome related	129						cytosolic large ribosomal subunit	protein binding|RNA binding	p.?(1)			0				READ - Rectum adenocarcinoma(115;0.17)														---	---	---	---	capture		Silent	SNP	7507137	7507137	6367	17	G	T	T	43	43	FXR2	T	2	2
DNAH2	146754	broad.mit.edu	37	17	7644287	7644287	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7644287C>G	uc002giu.1	+	10	1680	c.1666C>G	c.(1666-1668)CGT>GGT	p.R556G	DNAH2_uc002git.2_Missense_Mutation_p.R638G|DNAH2_uc010vuk.1_Missense_Mutation_p.R556G	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	556	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---	capture		Missense_Mutation	SNP	7644287	7644287	4785	17	C	G	G	27	27	DNAH2	G	3	3
GAS7	8522	broad.mit.edu	37	17	9923211	9923211	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9923211G>T	uc002gmg.1	-	2	348	c.187C>A	c.(187-189)CCT>ACT	p.P63T	GAS7_uc010vvd.1_Missense_Mutation_p.P15T|GAS7_uc002gmi.2_5'UTR|GAS7_uc002gmj.1_Missense_Mutation_p.P3T|GAS7_uc010coh.1_Missense_Mutation_p.P3T	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	63					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2								T	MLL	AML*								---	---	---	---	capture		Missense_Mutation	SNP	9923211	9923211	6514	17	G	T	T	42	42	GAS7	T	2	2
MYH8	4626	broad.mit.edu	37	17	10303705	10303705	+	Splice_Site	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10303705A>G	uc002gmm.2	-	27	3830	c.3735_splice	c.e27+1	p.K1245_splice	uc002gml.1_Intron	NM_002472	NP_002463			myosin, heavy chain 8, skeletal muscle,						muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11														Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				---	---	---	---	capture		Splice_Site	SNP	10303705	10303705	10436	17	A	G	G	14	14	MYH8	G	5	4
MYH4	4622	broad.mit.edu	37	17	10360881	10360881	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10360881A>C	uc002gmn.2	-	16	1864	c.1753T>G	c.(1753-1755)TAT>GAT	p.Y585D	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	585	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13																		---	---	---	---	capture		Missense_Mutation	SNP	10360881	10360881	10432	17	A	C	C	15	15	MYH4	C	4	4
MYH2	4620	broad.mit.edu	37	17	10432170	10432170	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10432170G>T	uc010coi.2	-	27	3709	c.3581C>A	c.(3580-3582)ACA>AAA	p.T1194K	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.T1194K|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1194	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14																		---	---	---	---	capture		Missense_Mutation	SNP	10432170	10432170	10430	17	G	T	T	48	48	MYH2	T	2	2
MYH3	4621	broad.mit.edu	37	17	10535303	10535303	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10535303G>T	uc002gmq.1	-	34	5064	c.4987C>A	c.(4987-4989)CGG>AGG	p.R1663R		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1663	Potential.			RG -> QT (in Ref. 3; CAA31492).	muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7																		---	---	---	---	capture		Silent	SNP	10535303	10535303	10431	17	G	T	T	39	39	MYH3	T	1	1
DNAH9	1770	broad.mit.edu	37	17	11572467	11572467	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11572467G>A	uc002gne.2	+	16	2886	c.2818G>A	c.(2818-2820)GGA>AGA	p.G940R	DNAH9_uc010coo.2_Missense_Mutation_p.G234R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	940	Stem (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	11572467	11572467	4791	17	G	A	A	47	47	DNAH9	A	2	2
ZNF18	7566	broad.mit.edu	37	17	11896038	11896038	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11896038G>A	uc002gng.1	-	4	714	c.109C>T	c.(109-111)CCT>TCT	p.P37S	ZNF18_uc002gnh.1_Missense_Mutation_p.P37S|ZNF18_uc002gni.1_Missense_Mutation_p.P37S	NM_144680	NP_653281	P17022	ZNF18_HUMAN	zinc finger protein 18	37					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)														---	---	---	---	capture		Missense_Mutation	SNP	11896038	11896038	18338	17	G	A	A	43	43	ZNF18	A	2	2
MAP2K4	6416	broad.mit.edu	37	17	11984822	11984822	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11984822C>A	uc002gnj.2	+	3	437	c.368C>A	c.(367-369)CCA>CAA	p.P123Q	MAP2K4_uc002gnk.2_Missense_Mutation_p.P134Q|MAP2K4_uc010vvi.1_Missense_Mutation_p.P5Q|MAP2K4_uc010vvj.1_Intron|MIR744_hsa-mir-744|MI0005559_5'Flank	NM_003010	NP_003001	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	123	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor 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	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(1)		large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)				D|Mis|N		pancreatic|breast|colorectal								---	---	---	---	capture		Missense_Mutation	SNP	11984822	11984822	9622	17	C	A	A	21	21	MAP2K4	A	2	2
MYOCD	93649	broad.mit.edu	37	17	12664015	12664015	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:12664015G>T	uc002gnn.2	+	12	2535	c.2236G>T	c.(2236-2238)GAA>TAA	p.E746*	MYOCD_uc002gno.2_Nonsense_Mutation_p.E794*|MYOCD_uc002gnq.2_Nonsense_Mutation_p.E470*	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	746					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)														---	---	---	---	capture		Nonsense_Mutation	SNP	12664015	12664015	10482	17	G	T	T	45	45	MYOCD	T	5	2
NOS2	4843	broad.mit.edu	37	17	26084309	26084309	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26084309G>A	uc002gzu.2	-	27	3689	c.3425C>T	c.(3424-3426)GCG>GTG	p.A1142V		NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	1142					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)											OREG0024267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	26084309	26084309	10946	17	G	A	A	38	38	NOS2	A	1	1
PIGS	94005	broad.mit.edu	37	17	26885500	26885500	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26885500G>T	uc002hbo.2	-	8	1301	c.928C>A	c.(928-930)CGG>AGG	p.R310R	PIGS_uc002hbn.2_Silent_p.R302R|PIGS_uc010wap.1_Silent_p.R249R	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	310	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	26885500	26885500	12322	17	G	T	T	39	39	PIGS	T	1	1
TRAF4	9618	broad.mit.edu	37	17	27075299	27075299	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27075299C>T	uc002hcs.2	+	5	590	c.482C>T	c.(481-483)CCC>CTC	p.P161L	TRAF4_uc002hcq.1_Intron	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	161	TRAF-type 2.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			upper_aerodigestive_tract(1)|lung(1)	2	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)															---	---	---	---	capture		Missense_Mutation	SNP	27075299	27075299	16987	17	C	T	T	22	22	TRAF4	T	2	2
SSH2	85464	broad.mit.edu	37	17	27959670	27959670	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27959670C>A	uc002heo.1	-	15	2461	c.2461G>T	c.(2461-2463)GGG>TGG	p.G821W	SSH2_uc010wbh.1_Missense_Mutation_p.G848W	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	821					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	27959670	27959670	15701	17	C	A	A	24	24	SSH2	A	2	2
CPD	1362	broad.mit.edu	37	17	28712159	28712159	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28712159C>A	uc002hfb.1	+	2	914	c.899C>A	c.(898-900)CCC>CAC	p.P300H	CPD_uc010wbo.1_Missense_Mutation_p.P53H|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	300	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	28712159	28712159	3936	17	C	A	A	22	22	CPD	A	2	2
UNC45B	146862	broad.mit.edu	37	17	33498366	33498366	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33498366C>A	uc002hja.2	+	13	1818	c.1721C>A	c.(1720-1722)TCG>TAG	p.S574*	UNC45B_uc002hjb.2_Nonsense_Mutation_p.S572*|UNC45B_uc002hjc.2_Nonsense_Mutation_p.S572*|UNC45B_uc010cto.2_Nonsense_Mutation_p.S493*	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	574					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)														OREG0024327	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Nonsense_Mutation	SNP	33498366	33498366	17547	17	C	A	A	31	31	UNC45B	A	5	1
UNC45B	146862	broad.mit.edu	37	17	33501267	33501267	+	Nonsense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33501267A>T	uc002hja.2	+	14	1940	c.1843A>T	c.(1843-1845)AAG>TAG	p.K615*	UNC45B_uc002hjb.2_Nonsense_Mutation_p.K613*|UNC45B_uc002hjc.2_Nonsense_Mutation_p.K613*|UNC45B_uc010cto.2_Nonsense_Mutation_p.K534*	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	615					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)																---	---	---	---	capture		Nonsense_Mutation	SNP	33501267	33501267	17547	17	A	T	T	9	9	UNC45B	T	5	4
CWC25	54883	broad.mit.edu	37	17	36959000	36959000	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36959000C>A	uc002hqu.2	-	9	1269	c.1116G>T	c.(1114-1116)CGG>CGT	p.R372R	CWC25_uc010wdv.1_Silent_p.R309R|CWC25_uc010wdw.1_RNA|PIP4K2B_uc002hqs.2_5'Flank|PIP4K2B_uc010wdt.1_5'Flank	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	coiled-coil domain containing 49	372	Potential.										0																		---	---	---	---	capture		Silent	SNP	36959000	36959000	4229	17	C	A	A	22	22	CWC25	A	2	2
ERBB2	2064	broad.mit.edu	37	17	37884091	37884091	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37884091G>T	uc002hso.2	+	27	3800	c.3562G>T	c.(3562-3564)GGG>TGG	p.G1188W	ERBB2_uc002hsm.2_Missense_Mutation_p.G1158W|ERBB2_uc010cwa.2_Missense_Mutation_p.G1173W|ERBB2_uc002hsp.2_Missense_Mutation_p.G991W|ERBB2_uc010cwb.2_3'UTR|ERBB2_uc010wek.1_Missense_Mutation_p.G912W	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	1188	Cytoplasmic (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			---	---	---	---	capture		Missense_Mutation	SNP	37884091	37884091	5399	17	G	T	T	47	47	ERBB2	T	2	2
WIPF2	147179	broad.mit.edu	37	17	38421393	38421393	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38421393G>T	uc002hug.1	+	5	1205	c.965G>T	c.(964-966)GGA>GTA	p.G322V	WIPF2_uc002huh.1_Missense_Mutation_p.G172V|WIPF2_uc010cww.1_Missense_Mutation_p.G172V|WIPF2_uc002hui.1_Missense_Mutation_p.G322V|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.G322V	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	WIRE protein	322						cytoplasm|cytoskeleton	actin binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3															HNSCC(43;0.11)			---	---	---	---	capture		Missense_Mutation	SNP	38421393	38421393	17942	17	G	T	T	41	41	WIPF2	T	2	2
KRT33B	3884	broad.mit.edu	37	17	39521219	39521219	+	Silent	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39521219G>A	uc002hwl.2	-	6	954	c.909C>T	c.(907-909)AGC>AGT	p.S303S		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	303	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)																---	---	---	---	capture		Silent	SNP	39521219	39521219	8785	17	G	A	A	38	38	KRT33B	A	1	1
STAT5A	6776	broad.mit.edu	37	17	40460197	40460197	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40460197G>T	uc002hzj.1	+	17	2550	c.1908G>T	c.(1906-1908)CCG>CCT	p.P636P	STAT5A_uc010cya.1_Silent_p.P636P|STAT5A_uc010cyb.1_Silent_p.P605P|STAT5A_uc010cyc.1_Silent_p.P606P|STAT5A_uc010cyd.1_Silent_p.P124P|STAT5A_uc010cye.1_Silent_p.P124P	NM_003152	NP_003143	P42229	STA5A_HUMAN	signal transducer and activator of transcription	636	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)														---	---	---	---	capture		Silent	SNP	40460197	40460197	15788	17	G	T	T	39	39	STAT5A	T	1	1
PTRF	284119	broad.mit.edu	37	17	40574766	40574766	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40574766A>T	uc002hzo.2	-	1	509	c.350T>A	c.(349-351)GTC>GAC	p.V117D	PTRF_uc010wgi.1_Missense_Mutation_p.V99D	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	117					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)														---	---	---	---	capture		Missense_Mutation	SNP	40574766	40574766	13273	17	A	T	T	10	10	PTRF	T	4	4
IGF2BP1	10642	broad.mit.edu	37	17	47120878	47120878	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47120878G>T	uc002iom.2	+	10	1500	c.1166G>T	c.(1165-1167)AGC>ATC	p.S389I	IGF2BP1_uc010dbj.2_Missense_Mutation_p.S250I	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	389	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	47120878	47120878	7874	17	G	T	T	34	34	IGF2BP1	T	2	2
PPP1R9B	84687	broad.mit.edu	37	17	48216853	48216853	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48216853C>A	uc002iqh.3	-	8	1963	c.1960G>T	c.(1960-1962)GAG>TAG	p.E654*		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	652	Interacts with TGN38 (By similarity).				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	48216853	48216853	12815	17	C	A	A	31	31	PPP1R9B	A	5	1
TMEM100	55273	broad.mit.edu	37	17	53798268	53798268	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53798268C>A	uc002iuj.3	-	2	475	c.164G>T	c.(163-165)CGC>CTC	p.R55L	TMEM100_uc002iuk.3_Missense_Mutation_p.R55L	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	transmembrane protein 100	55						integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	53798268	53798268	16545	17	C	A	A	27	27	TMEM100	A	1	1
ANKFN1	162282	broad.mit.edu	37	17	54520245	54520245	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:54520245A>T	uc002iun.1	+	9	1094	c.1059A>T	c.(1057-1059)AAA>AAT	p.K353N		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	353	Fibronectin type-III.									large_intestine(1)|ovary(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	54520245	54520245	628	17	A	T	T	3	3	ANKFN1	T	4	4
HELZ	9931	broad.mit.edu	37	17	65162609	65162609	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65162609G>T	uc010wqk.1	-	15	2067	c.1880C>A	c.(1879-1881)CCA>CAA	p.P627Q	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.P627Q	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)																	---	---	---	---	capture		Missense_Mutation	SNP	65162609	65162609	7332	17	G	T	T	47	47	HELZ	T	2	2
PITPNC1	26207	broad.mit.edu	37	17	65688927	65688927	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65688927G>T	uc002jgc.2	+	9	1269	c.922G>T	c.(922-924)GAC>TAC	p.D308Y	PITPNC1_uc002jgb.2_3'UTR	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein,	308					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	p.D308D(1)		skin(1)	1	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)															---	---	---	---	capture		Missense_Mutation	SNP	65688927	65688927	12373	17	G	T	T	33	33	PITPNC1	T	2	2
BPTF	2186	broad.mit.edu	37	17	65955663	65955663	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65955663C>A	uc002jgf.2	+	24	7994	c.7933C>A	c.(7933-7935)CTG>ATG	p.L2645M	BPTF_uc002jge.2_Missense_Mutation_p.L2628M|BPTF_uc002jgg.2_Missense_Mutation_p.L302M|BPTF_uc002jgh.2_Missense_Mutation_p.L104M	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2771					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)															---	---	---	---	capture		Missense_Mutation	SNP	65955663	65955663	1523	17	C	A	A	28	28	BPTF	A	2	2
C17orf80	55028	broad.mit.edu	37	17	71232591	71232591	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:71232591G>A	uc002jjm.3	+	3	1164	c.970G>A	c.(970-972)GAA>AAA	p.E324K	C17orf80_uc010wqu.1_Missense_Mutation_p.E324K|C17orf80_uc010dfj.2_Missense_Mutation_p.E324K|C17orf80_uc002jjk.1_Missense_Mutation_p.E324K|C17orf80_uc002jjl.3_Missense_Mutation_p.E324K	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	lung cancer-related protein 8 isoform a	324	Extracellular (Potential).					integral to membrane				skin(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)															---	---	---	---	capture		Missense_Mutation	SNP	71232591	71232591	1943	17	G	A	A	41	41	C17orf80	A	2	2
BTBD17	388419	broad.mit.edu	37	17	72352885	72352885	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72352885G>T	uc002jkn.2	-	3	1348	c.1348C>A	c.(1348-1350)CGC>AGC	p.R450S		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17 precursor	450						extracellular region					0																		---	---	---	---	capture		Missense_Mutation	SNP	72352885	72352885	1574	17	G	T	T	38	38	BTBD17	T	1	1
UNK	85451	broad.mit.edu	37	17	73780809	73780809	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73780809C>G	uc002jpm.2	+	2	76	c.76C>G	c.(76-78)CCG>GCG	p.P26A	UNK_uc002jpn.2_RNA|UNK_uc002jpo.2_RNA	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	Error:Variant_position_missing_in_Q9C0B0_after_alignment							nucleic acid binding|zinc ion binding				0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---	capture		Missense_Mutation	SNP	73780809	73780809	17559	17	C	G	G	26	26	UNK	G	3	3
ACOX1	51	broad.mit.edu	37	17	73945424	73945424	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73945424C>A	uc002jqf.2	-	12	1892	c.1602G>T	c.(1600-1602)GTG>GTT	p.V534V	ACOX1_uc010wsq.1_Silent_p.V496V|ACOX1_uc002jqe.2_Silent_p.V534V|ACOX1_uc010wsr.1_Silent_p.V466V	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	534				VV -> GL (in Ref. 1; AAA19113 and 2; AAA18595).	fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	73945424	73945424	159	17	C	A	A	21	21	ACOX1	A	2	2
ACOX1	51	broad.mit.edu	37	17	73969781	73969781	+	Nonsense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73969781G>A	uc002jqf.2	-	3	645	c.355C>T	c.(355-357)CAG>TAG	p.Q119*	ACOX1_uc010wsq.1_Intron|ACOX1_uc002jqe.2_Intron|ACOX1_uc010wsr.1_5'UTR	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	119				Q -> E (in Ref. 4; AAB30019).	fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	73969781	73969781	159	17	G	A	A	45	45	ACOX1	A	5	2
HGS	9146	broad.mit.edu	37	17	79667556	79667556	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79667556C>T	uc002kbg.2	+	19	2019	c.1942C>T	c.(1942-1944)CCC>TCC	p.P648S	MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank	NM_004712	NP_004703	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine	648	Interaction with NF2.|Gln-rich.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)															---	---	---	---	capture		Missense_Mutation	SNP	79667556	79667556	7371	17	C	T	T	22	22	HGS	T	2	2
COLEC12	81035	broad.mit.edu	37	18	335079	335079	+	Silent	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:335079G>A	uc002kkm.2	-	6	1694	c.1479C>T	c.(1477-1479)CCC>CCT	p.P493P		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	493	Collagen-like 2.|Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)																---	---	---	---	capture		Silent	SNP	335079	335079	3850	18	G	A	A	39	39	COLEC12	A	1	1
EPB41L3	23136	broad.mit.edu	37	18	5433490	5433490	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5433490C>A	uc002kmt.1	-	8	976	c.890G>T	c.(889-891)GGG>GTG	p.G297V	EPB41L3_uc010wzh.1_Missense_Mutation_p.G297V|EPB41L3_uc002kmu.1_Missense_Mutation_p.G297V|EPB41L3_uc010dkq.1_Missense_Mutation_p.G188V|EPB41L3_uc010dks.1_Missense_Mutation_p.G319V	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	297	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5																		---	---	---	---	capture		Missense_Mutation	SNP	5433490	5433490	5347	18	C	A	A	22	22	EPB41L3	A	2	2
AFG3L2	10939	broad.mit.edu	37	18	12367055	12367055	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12367055C>A	uc002kqz.1	-	5	574	c.461G>T	c.(460-462)TGG>TTG	p.W154L		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	AFG3 ATPase family gene 3-like 2	154	Helical; (Potential).				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0					Adenosine triphosphate(DB00171)													---	---	---	---	capture		Missense_Mutation	SNP	12367055	12367055	361	18	C	A	A	21	21	AFG3L2	A	2	2
CHST9	83539	broad.mit.edu	37	18	24496619	24496619	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:24496619T>A	uc002kwd.2	-	5	1134	c.936A>T	c.(934-936)AAA>AAT	p.K312N	C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Missense_Mutation_p.K227N|CHST9_uc002kwe.2_Missense_Mutation_p.K312N	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN	GalNAc-4-sulfotransferase 2	312	Lumenal (Potential).				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			ovary(2)|skin(1)	3	all_lung(6;0.0145)|Ovarian(20;0.124)																	---	---	---	---	capture		Missense_Mutation	SNP	24496619	24496619	3545	18	T	A	A	52	52	CHST9	A	4	4
DTNA	1837	broad.mit.edu	37	18	32398154	32398154	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:32398154T>A	uc010dmn.1	+	7	737	c.736T>A	c.(736-738)TGC>AGC	p.C246S	DTNA_uc002kxu.2_Missense_Mutation_p.C246S|DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.C246S|DTNA_uc002kxw.2_Missense_Mutation_p.C246S|DTNA_uc002kxx.2_Missense_Mutation_p.C246S|DTNA_uc010dmj.2_Missense_Mutation_p.C246S|DTNA_uc002kxz.2_Missense_Mutation_p.C246S|DTNA_uc002kxy.2_Missense_Mutation_p.C246S|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.C246S|DTNA_uc002kyb.3_Missense_Mutation_p.C246S|DTNA_uc010dmm.2_Missense_Mutation_p.C246S|DTNA_uc010xby.1_5'UTR|DTNA_uc010dmo.2_5'Flank|DTNA_uc002kyd.3_5'Flank|DTNA_uc010xbz.1_5'Flank|DTNA_uc010xca.1_5'Flank|DTNA_uc002kye.2_5'Flank	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	246	Interaction with MAGEE1 (By similarity).|ZZ-type.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	32398154	32398154	4973	18	T	A	A	55	55	DTNA	A	4	4
C18orf10	25941	broad.mit.edu	37	18	34380196	34380196	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34380196C>A	uc002kzw.1	-	5	889	c.461G>T	c.(460-462)GGG>GTG	p.G154V	C18orf10_uc002kzv.1_Missense_Mutation_p.G154V|C18orf10_uc010xci.1_Missense_Mutation_p.G119V|C18orf10_uc002kzx.1_Missense_Mutation_p.G111V|C18orf10_uc002kzy.3_Missense_Mutation_p.G154V	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	154						cytoplasm|microtubule				skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	34380196	34380196	1956	18	C	A	A	22	22	C18orf10	A	2	2
ATP5A1	498	broad.mit.edu	37	18	43664494	43664494	+	Missense_Mutation	SNP	T	A	A	rs146748835		TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43664494T>A	uc002lbr.1	-	11	1646	c.1556A>T	c.(1555-1557)CAC>CTC	p.H519L	ATP5A1_uc010dnl.1_Missense_Mutation_p.H469L|ATP5A1_uc002lbs.1_Missense_Mutation_p.H469L|ATP5A1_uc002lbt.1_Missense_Mutation_p.H519L	NM_004046	NP_004037	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	519					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism				0																		---	---	---	---	capture		Missense_Mutation	SNP	43664494	43664494	1166	18	T	A	A	59	59	ATP5A1	A	4	4
NETO1	81832	broad.mit.edu	37	18	70526196	70526196	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:70526196G>T	uc002lkw.2	-	4	618	c.334C>A	c.(334-336)CCA>ACA	p.P112T	NETO1_uc002lkx.1_Missense_Mutation_p.P111T|NETO1_uc002lky.1_Missense_Mutation_p.P112T|NETO1_uc002lkz.2_Missense_Mutation_p.P111T	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	112	CUB 1.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)														---	---	---	---	capture		Missense_Mutation	SNP	70526196	70526196	10738	18	G	T	T	41	41	NETO1	T	2	2
TSHZ1	10194	broad.mit.edu	37	18	73000059	73000059	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:73000059C>A	uc002lly.2	+	2	3125	c.2562C>A	c.(2560-2562)ATC>ATA	p.I854I		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	899	Homeobox; atypical.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)														---	---	---	---	capture		Silent	SNP	73000059	73000059	17174	18	C	A	A	30	30	TSHZ1	A	2	2
DIRAS1	148252	broad.mit.edu	37	19	2717615	2717615	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2717615C>A	uc002lwf.3	-	2	348	c.190G>T	c.(190-192)GGC>TGC	p.G64C		NM_145173	NP_660156	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	64	GTP (By similarity).				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---	capture		Missense_Mutation	SNP	2717615	2717615	4709	19	C	A	A	23	23	DIRAS1	A	1	1
ARRDC5	645432	broad.mit.edu	37	19	4902594	4902594	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4902594G>T	uc002mbm.2	-	1	286	c.286C>A	c.(286-288)CCA>ACA	p.P96T		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	96					signal transduction						0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)														---	---	---	---	capture		Missense_Mutation	SNP	4902594	4902594	1004	19	G	T	T	43	43	ARRDC5	T	2	2
INSR	3643	broad.mit.edu	37	19	7152890	7152890	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7152890T>C	uc002mgd.1	-	10	2187	c.2078A>G	c.(2077-2079)GAT>GGT	p.D693G	INSR_uc002mge.1_Missense_Mutation_p.D693G|INSR_uc002mgf.2_Missense_Mutation_p.D693G	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	693	Fibronectin type-III 1.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---	capture		Missense_Mutation	SNP	7152890	7152890	8074	19	T	C	C	50	50	INSR	C	4	4
MUC16	94025	broad.mit.edu	37	19	9012820	9012820	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9012820G>T	uc002mkp.2	-	34	38828	c.38624C>A	c.(38623-38625)CCA>CAA	p.P12875Q	MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12877	SEA 6.|Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---	capture		Missense_Mutation	SNP	9012820	9012820	10367	19	G	T	T	47	47	MUC16	T	2	2
MUC16	94025	broad.mit.edu	37	19	9071136	9071136	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9071136T>G	uc002mkp.2	-	3	16514	c.16310A>C	c.(16309-16311)CAA>CCA	p.Q5437P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5439	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---	capture		Missense_Mutation	SNP	9071136	9071136	10367	19	T	G	G	63	63	MUC16	G	4	4
MUC16	94025	broad.mit.edu	37	19	9074850	9074850	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9074850C>T	uc002mkp.2	-	3	12800	c.12596G>A	c.(12595-12597)GGC>GAC	p.G4199D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4201	Thr-rich.|Extracellular (Potential).|Ser-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---	capture		Missense_Mutation	SNP	9074850	9074850	10367	19	C	T	T	26	26	MUC16	T	2	2
FARSA	2193	broad.mit.edu	37	19	13041110	13041110	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13041110G>T	uc002mvs.2	-	4	478	c.430C>A	c.(430-432)CGG>AGG	p.R144R	FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Silent_p.R144R|FARSA_uc010dyy.1_Silent_p.R65R	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	144					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			ovary(1)	1					L-Phenylalanine(DB00120)													---	---	---	---	capture		Silent	SNP	13041110	13041110	5915	19	G	T	T	39	39	FARSA	T	1	1
RAD23A	5886	broad.mit.edu	37	19	13059563	13059563	+	Missense_Mutation	SNP	G	T	T	rs4987203	byFrequency;by1000genomes	TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13059563G>T	uc002mvw.1	+	5	645	c.536G>T	c.(535-537)CGG>CTG	p.R179L	RAD23A_uc002mvx.1_Missense_Mutation_p.R179L|RAD23A_uc002mvz.1_Missense_Mutation_p.R179L|RAD23A_uc002mwa.1_Missense_Mutation_p.R179L|RAD23A_uc002mvy.1_Missense_Mutation_p.R14L|RAD23A_uc010xmw.1_Missense_Mutation_p.R14L	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	179	UBA 1.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)	1													NER					---	---	---	---	capture		Missense_Mutation	SNP	13059563	13059563	13442	19	G	T	T	39	39	RAD23A	T	1	1
LPHN1	22859	broad.mit.edu	37	19	14288365	14288365	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14288365C>A	uc010xnn.1	-	3	558	c.262G>T	c.(262-264)GCC>TCC	p.A88S	LPHN1_uc010xno.1_Missense_Mutation_p.A88S	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	88	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	14288365	14288365	9288	19	C	A	A	27	27	LPHN1	A	1	1
SLC1A6	6511	broad.mit.edu	37	19	15083565	15083565	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15083565A>T	uc002naa.1	-	1	166	c.158T>A	c.(157-159)CTG>CAG	p.L53Q	SLC1A6_uc010dzu.1_Missense_Mutation_p.L53Q|SLC1A6_uc010xod.1_Silent_p.P57P|SLC1A6_uc002nab.2_Missense_Mutation_p.L53Q|SLC1A6_uc002nac.2_Missense_Mutation_p.L53Q|SLC1A6_uc002nad.1_Missense_Mutation_p.L53Q	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	53	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)													---	---	---	---	capture		Missense_Mutation	SNP	15083565	15083565	14932	19	A	T	T	7	7	SLC1A6	T	4	4
C19orf44	84167	broad.mit.edu	37	19	16611672	16611672	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16611672G>T	uc002neh.1	+	2	142	c.69G>T	c.(67-69)TTG>TTT	p.L23F	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.L23F|C19orf44_uc002neg.2_Missense_Mutation_p.L23F|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	23											0																		---	---	---	---	capture		Missense_Mutation	SNP	16611672	16611672	1991	19	G	T	T	47	47	C19orf44	T	2	2
GTPBP3	84705	broad.mit.edu	37	19	17452418	17452418	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17452418G>T	uc010eas.2	+	9	1450	c.1385G>T	c.(1384-1386)CGG>CTG	p.R462L	GTPBP3_uc010xpo.1_Missense_Mutation_p.R484L|GTPBP3_uc002ngh.3_Missense_Mutation_p.R441L|GTPBP3_uc002ngg.3_Missense_Mutation_p.R494L|GTPBP3_uc002ngi.3_Missense_Mutation_p.R128L	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform V	462					tRNA modification	mitochondrion	GTP binding|GTPase activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	17452418	17452418	7161	19	G	T	T	39	39	GTPBP3	T	1	1
ZNF682	91120	broad.mit.edu	37	19	20117806	20117806	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20117806T>C	uc002noq.2	-	4	628	c.505A>G	c.(505-507)ACA>GCA	p.T169A	ZNF682_uc002noo.2_Missense_Mutation_p.T137A|ZNF682_uc002nop.2_Missense_Mutation_p.T137A|ZNF682_uc010eck.2_Missense_Mutation_p.T93A	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	20117806	20117806	18684	19	T	C	C	57	57	ZNF682	C	4	4
ZNF714	148206	broad.mit.edu	37	19	21300743	21300743	+	Nonsense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21300743A>T	uc002npo.3	+	6	1636	c.1276A>T	c.(1276-1278)AAA>TAA	p.K426*	ZNF714_uc002npl.2_Nonsense_Mutation_p.K271*|ZNF714_uc010ecp.1_Nonsense_Mutation_p.K377*|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	426	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	21300743	21300743	18714	19	A	T	T	5	5	ZNF714	T	5	4
ZNF99	7652	broad.mit.edu	37	19	22939151	22939151	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22939151G>T	uc010xrh.1	-	8	2967	c.2967C>A	c.(2965-2967)GCC>GCA	p.A989A		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)																---	---	---	---	capture		Silent	SNP	22939151	22939151	18808	19	G	T	T	35	35	ZNF99	T	2	2
ZNF675	171392	broad.mit.edu	37	19	23836363	23836363	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:23836363C>A	uc002nri.2	-	4	1554	c.1372G>T	c.(1372-1374)GGC>TGC	p.G458C		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	zinc finger protein 675	458	C2H2-type 12.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)																---	---	---	---	capture		Missense_Mutation	SNP	23836363	23836363	18677	19	C	A	A	21	21	ZNF675	A	2	2
PLEKHF1	79156	broad.mit.edu	37	19	30164785	30164785	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30164785G>C	uc002nsh.3	+	2	141	c.39G>C	c.(37-39)CAG>CAC	p.Q13H	PLEKHF1_uc002nsi.3_Missense_Mutation_p.Q98H	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	apoptosis-inducing protein D	13					apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding				0	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)															---	---	---	---	capture		Missense_Mutation	SNP	30164785	30164785	12492	19	G	C	C	34	34	PLEKHF1	C	3	3
ZNF420	147923	broad.mit.edu	37	19	37618677	37618677	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37618677C>G	uc002ofl.2	+	5	999	c.784C>G	c.(784-786)CAG>GAG	p.Q262E		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	262	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---	capture		Missense_Mutation	SNP	37618677	37618677	18490	19	C	G	G	29	29	ZNF420	G	3	3
RASGRP4	115727	broad.mit.edu	37	19	38911579	38911579	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38911579G>T	uc002oir.2	-	4	560	c.346C>A	c.(346-348)CTG>ATG	p.L116M	RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Missense_Mutation_p.L116M|RASGRP4_uc010xub.1_Missense_Mutation_p.L116M|RASGRP4_uc010xuc.1_Missense_Mutation_p.L116M|RASGRP4_uc010xud.1_Missense_Mutation_p.L116M|RASGRP4_uc010xue.1_Missense_Mutation_p.L116M|RASGRP4_uc010egb.2_Missense_Mutation_p.L116M	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4 isoform a	116	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			pancreas(1)|lung(1)|skin(1)	3	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---	capture		Missense_Mutation	SNP	38911579	38911579	13538	19	G	T	T	34	34	RASGRP4	T	2	2
RYR1	6261	broad.mit.edu	37	19	38993342	38993342	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38993342G>A	uc002oit.2	+	48	7940	c.7810G>A	c.(7810-7812)GAG>AAG	p.E2604K	RYR1_uc002oiu.2_Missense_Mutation_p.E2604K|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2604	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---	capture		Missense_Mutation	SNP	38993342	38993342	14248	19	G	A	A	37	37	RYR1	A	1	1
MAP4K1	11184	broad.mit.edu	37	19	39100635	39100635	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39100635G>T	uc002oix.1	-	12	949	c.841C>A	c.(841-843)CGA>AGA	p.R281R	MAP4K1_uc002oiw.1_5'Flank|MAP4K1_uc002oiy.1_Silent_p.R281R|MAP4K1_uc010xug.1_5'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	281					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)|ovary(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---	capture		Silent	SNP	39100635	39100635	9642	19	G	T	T	37	37	MAP4K1	T	1	1
FCGBP	8857	broad.mit.edu	37	19	40368472	40368472	+	Silent	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40368472G>A	uc002omp.3	-	28	12884	c.12876C>T	c.(12874-12876)ACC>ACT	p.T4292T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4292	VWFD 10.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)															---	---	---	---	capture		Silent	SNP	40368472	40368472	6015	19	G	A	A	47	47	FCGBP	A	2	2
FCGBP	8857	broad.mit.edu	37	19	40433521	40433521	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40433521T>A	uc002omp.3	-	2	756	c.748A>T	c.(748-750)ACC>TCC	p.T250S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	250	IgGFc-binding.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)															---	---	---	---	capture		Missense_Mutation	SNP	40433521	40433521	6015	19	T	A	A	59	59	FCGBP	A	4	4
ATP1A3	478	broad.mit.edu	37	19	42486229	42486229	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42486229C>A	uc002osg.2	-	9	1177	c.1023G>T	c.(1021-1023)ATG>ATT	p.M341I	ATP1A3_uc010xwf.1_Missense_Mutation_p.M352I|ATP1A3_uc010xwg.1_Missense_Mutation_p.M311I|ATP1A3_uc010xwh.1_Missense_Mutation_p.M354I|ATP1A3_uc002osh.2_Missense_Mutation_p.M341I	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	341	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	42486229	42486229	1149	19	C	A	A	21	21	ATP1A3	A	2	2
PSG7	5676	broad.mit.edu	37	19	43430142	43430142	+	Silent	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43430142G>A	uc002ovl.3	-	6	1128	c.1026C>T	c.(1024-1026)ACC>ACT	p.T342T	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Silent_p.T255T|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Silent_p.T68T|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Silent_p.T255T|PSG7_uc010xwl.1_Silent_p.T220T	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	342	Ig-like C2-type 3.				female pregnancy	extracellular region					0		Prostate(69;0.00682)																---	---	---	---	capture		Silent	SNP	43430142	43430142	13113	19	G	A	A	35	35	PSG7	A	2	2
BCAM	4059	broad.mit.edu	37	19	45317915	45317915	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45317915G>T	uc002ozu.2	+	8	1020	c.976G>T	c.(976-978)GGA>TGA	p.G326*	BCAM_uc002ozt.1_Nonsense_Mutation_p.G326*	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	326	Extracellular (Potential).|Ig-like C2-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)																---	---	---	---	capture		Nonsense_Mutation	SNP	45317915	45317915	1365	19	G	T	T	43	43	BCAM	T	5	2
RSPH6A	81492	broad.mit.edu	37	19	46313920	46313920	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46313920C>G	uc002pdm.2	-	2	972	c.829G>C	c.(829-831)GCG>CCG	p.A277P	RSPH6A_uc002pdl.2_Missense_Mutation_p.A13P	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	277						intracellular				ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	46313920	46313920	14187	19	C	G	G	26	26	RSPH6A	G	3	3
HRC	3270	broad.mit.edu	37	19	49658431	49658431	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49658431G>A	uc002pmv.2	-	1	251	c.64C>T	c.(64-66)CTC>TTC	p.L22F	TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	22					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)														---	---	---	---	capture		Missense_Mutation	SNP	49658431	49658431	7644	19	G	A	A	35	35	HRC	A	2	2
TEAD2	8463	broad.mit.edu	37	19	49863239	49863239	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49863239C>A	uc002pnj.2	-	2	185	c.94G>T	c.(94-96)GGG>TGG	p.G32W	TEAD2_uc002png.2_Missense_Mutation_p.G32W|TEAD2_uc002pnh.2_Missense_Mutation_p.G32W|TEAD2_uc002pni.2_Missense_Mutation_p.G32W|TEAD2_uc010yao.1_Intron|TEAD2_uc010emw.2_Missense_Mutation_p.G32W	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	32					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)														---	---	---	---	capture		Missense_Mutation	SNP	49863239	49863239	16266	19	C	A	A	22	22	TEAD2	A	2	2
KLK15	55554	broad.mit.edu	37	19	51329879	51329879	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51329879C>T	uc002ptl.2	-	4	647	c.616G>A	c.(616-618)GAG>AAG	p.E206K	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Intron|KLK15_uc002pto.2_Missense_Mutation_p.E205K|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Intron|KLK15_uc010eod.2_Intron	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	206	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)														---	---	---	---	capture		Missense_Mutation	SNP	51329879	51329879	8717	19	C	T	T	29	29	KLK15	T	2	2
KLK5	25818	broad.mit.edu	37	19	51452188	51452188	+	Silent	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51452188G>A	uc002pue.2	-	5	737	c.519C>T	c.(517-519)AAC>AAT	p.N173N	KLK5_uc002puf.2_Silent_p.N173N|KLK5_uc002pug.2_Silent_p.N173N	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	173	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)														---	---	---	---	capture		Silent	SNP	51452188	51452188	8721	19	G	A	A	40	40	KLK5	A	1	1
ZNF613	79898	broad.mit.edu	37	19	52448633	52448633	+	Silent	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52448633C>T	uc002pxz.1	+	6	1920	c.1497C>T	c.(1495-1497)CTC>CTT	p.L499L	ZNF613_uc002pya.1_Silent_p.L463L	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	499	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)														---	---	---	---	capture		Silent	SNP	52448633	52448633	18633	19	C	T	T	29	29	ZNF613	T	2	2
ZNF677	342926	broad.mit.edu	37	19	53741317	53741317	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53741317G>T	uc002qbf.1	-	5	848	c.663C>A	c.(661-663)ATC>ATA	p.I221I	ZNF677_uc002qbg.1_Silent_p.I221I	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)														---	---	---	---	capture		Silent	SNP	53741317	53741317	18679	19	G	T	T	45	45	ZNF677	T	2	2
NLRP12	91662	broad.mit.edu	37	19	54314451	54314451	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54314451G>T	uc002qch.3	-	3	682	c.462C>A	c.(460-462)AGC>AGA	p.S154R	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.S154R|NLRP12_uc002qcj.3_Missense_Mutation_p.S154R|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.S154R	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	154					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)														---	---	---	---	capture		Missense_Mutation	SNP	54314451	54314451	10877	19	G	T	T	42	42	NLRP12	T	2	2
ZNF667	63934	broad.mit.edu	37	19	56953379	56953379	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56953379G>T	uc002qnd.2	-	5	1147	c.985C>A	c.(985-987)CCT>ACT	p.P329T	ZNF667_uc010etl.2_Missense_Mutation_p.P111T|ZNF667_uc002qne.2_Missense_Mutation_p.P329T|ZNF667_uc010etm.2_Missense_Mutation_p.P272T	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)														---	---	---	---	capture		Missense_Mutation	SNP	56953379	56953379	18669	19	G	T	T	41	41	ZNF667	T	2	2
ZNF835	90485	broad.mit.edu	37	19	57175029	57175029	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57175029G>T	uc010ygo.1	-	2	1604	c.1604C>A	c.(1603-1605)CCT>CAT	p.P535H	ZNF835_uc010ygn.1_Missense_Mutation_p.P513H	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	57175029	57175029	18785	19	G	T	T	35	35	ZNF835	T	2	2
PEG3	5178	broad.mit.edu	37	19	57326183	57326183	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57326183C>A	uc002qnu.2	-	7	3978	c.3627G>T	c.(3625-3627)CGG>CGT	p.R1209R	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.R1180R|PEG3_uc002qnv.2_Silent_p.R1209R|PEG3_uc002qnw.2_Silent_p.R1085R|PEG3_uc002qnx.2_Silent_p.R1083R|PEG3_uc010etr.2_Silent_p.R1209R	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1209					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)														---	---	---	---	capture		Silent	SNP	57326183	57326183	12141	19	C	A	A	30	30	PEG3	A	2	2
PEG3	5178	broad.mit.edu	37	19	57327459	57327459	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57327459G>T	uc002qnu.2	-	7	2702	c.2351C>A	c.(2350-2352)TCT>TAT	p.S784Y	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S755Y|PEG3_uc002qnv.2_Missense_Mutation_p.S784Y|PEG3_uc002qnw.2_Missense_Mutation_p.S660Y|PEG3_uc002qnx.2_Missense_Mutation_p.S658Y|PEG3_uc010etr.2_Missense_Mutation_p.S784Y	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	784					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)														---	---	---	---	capture		Missense_Mutation	SNP	57327459	57327459	12141	19	G	T	T	33	33	PEG3	T	2	2
ZIM3	114026	broad.mit.edu	37	19	57646983	57646983	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57646983T>G	uc002qnz.1	-	5	1108	c.722A>C	c.(721-723)CAT>CCT	p.H241P		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	241	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---	capture		Missense_Mutation	SNP	57646983	57646983	18276	19	T	G	G	51	51	ZIM3	G	4	4
VN1R1	57191	broad.mit.edu	37	19	57967750	57967750	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57967750G>T	uc002qos.1	-	1	105	c.105C>A	c.(103-105)CCC>CCA	p.P35P	ZNF547_uc002qpm.3_Intron	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	35	Extracellular (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)														---	---	---	---	capture		Silent	SNP	57967750	57967750	17745	19	G	T	T	43	43	VN1R1	T	2	2
ZSCAN4	201516	broad.mit.edu	37	19	58187877	58187877	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58187877C>A	uc002qpu.2	+	3	1061	c.364C>A	c.(364-366)CTG>ATG	p.L122M		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	122	SCAN box.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---	capture		Missense_Mutation	SNP	58187877	58187877	18841	19	C	A	A	24	24	ZSCAN4	A	2	2
MYT1L	23040	broad.mit.edu	37	2	1926334	1926334	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1926334C>A	uc002qxe.2	-	10	2034	c.1207G>T	c.(1207-1209)GAT>TAT	p.D403Y	MYT1L_uc002qxd.2_Missense_Mutation_p.D403Y|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	403					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)														---	---	---	---	capture		Missense_Mutation	SNP	1926334	1926334	10502	2	C	A	A	30	30	MYT1L	A	2	2
NBAS	51594	broad.mit.edu	37	2	15374743	15374743	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:15374743C>A	uc002rcc.1	-	46	6098	c.6072G>T	c.(6070-6072)GTG>GTT	p.V2024V	NBAS_uc002rcb.1_5'UTR|NBAS_uc010exl.1_Silent_p.V1096V|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	2024										ovary(2)|liver(1)|skin(1)	4																		---	---	---	---	capture		Silent	SNP	15374743	15374743	10582	2	C	A	A	21	21	NBAS	A	2	2
CAD	790	broad.mit.edu	37	2	27454372	27454372	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27454372C>T	uc002rji.2	+	16	2486	c.2324C>T	c.(2323-2325)GCC>GTC	p.A775V	CAD_uc010eyw.2_Missense_Mutation_p.A712V	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	775	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)													---	---	---	---	capture		Missense_Mutation	SNP	27454372	27454372	2681	2	C	T	T	26	26	CAD	T	2	2
C2orf16	84226	broad.mit.edu	37	2	27799968	27799968	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27799968A>C	uc002rkz.3	+	1	580	c.529A>C	c.(529-531)AAA>CAA	p.K177Q		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	177										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	27799968	27799968	2243	2	A	C	C	9	9	C2orf16	C	4	4
SUPT7L	9913	broad.mit.edu	37	2	27876565	27876565	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27876565C>T	uc002rlh.1	-	6	1375	c.1032G>A	c.(1030-1032)ATG>ATA	p.M344I	SUPT7L_uc002rli.1_Missense_Mutation_p.M344I|SUPT7L_uc010ymf.1_Missense_Mutation_p.M209I|SUPT7L_uc002rlj.1_Missense_Mutation_p.M342I|SUPT7L_uc010ezh.1_Missense_Mutation_p.M342I	NM_014860	NP_055675	O94864	ST65G_HUMAN	SPTF-associated factor 65 gamma	344					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	27876565	27876565	15921	2	C	T	T	21	21	SUPT7L	T	2	2
CLIP4	79745	broad.mit.edu	37	2	29404610	29404610	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29404610G>A	uc002rmv.2	+	16	2208	c.1969G>A	c.(1969-1971)GAG>AAG	p.E657K	CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	657	CAP-Gly 3.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	29404610	29404610	3673	2	G	A	A	45	45	CLIP4	A	2	2
TTC27	55622	broad.mit.edu	37	2	33012146	33012146	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33012146G>T	uc002rom.2	+	16	2159	c.1928G>T	c.(1927-1929)GGG>GTG	p.G643V	TTC27_uc010ymx.1_Missense_Mutation_p.G593V|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	643	TPR 6.						protein binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	33012146	33012146	17249	2	G	T	T	43	43	TTC27	T	2	2
ABCG8	64241	broad.mit.edu	37	2	44078879	44078879	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44078879A>G	uc002rtq.2	+	4	569	c.479A>G	c.(478-480)AAC>AGC	p.N160S	ABCG8_uc010yoa.1_Missense_Mutation_p.N160S	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	160	ABC transporter.|Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---	capture		Missense_Mutation	SNP	44078879	44078879	73	2	A	G	G	2	2	ABCG8	G	4	4
SRBD1	55133	broad.mit.edu	37	2	45616719	45616719	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:45616719G>T	uc002rus.2	-	21	2794	c.2718C>A	c.(2716-2718)TTC>TTA	p.F906L	SRBD1_uc010yoc.1_Missense_Mutation_p.F425L	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	906					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)															---	---	---	---	capture		Missense_Mutation	SNP	45616719	45616719	15647	2	G	T	T	45	45	SRBD1	T	2	2
USP34	9736	broad.mit.edu	37	2	61546343	61546343	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61546343C>A	uc002sbe.2	-	22	3155	c.3133G>T	c.(3133-3135)GGT>TGT	p.G1045C		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	1045					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---	capture		Missense_Mutation	SNP	61546343	61546343	17629	2	C	A	A	22	22	USP34	A	2	2
PELI1	57162	broad.mit.edu	37	2	64321991	64321991	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:64321991C>A	uc002scs.3	-	6	5141	c.1102G>T	c.(1102-1104)GGG>TGG	p.G368W	PELI1_uc002sct.3_Missense_Mutation_p.G368W|PELI1_uc002scr.3_Missense_Mutation_p.G189W	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	pellino protein	368					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	64321991	64321991	12142	2	C	A	A	21	21	PELI1	A	2	2
SPRED2	200734	broad.mit.edu	37	2	65571948	65571948	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:65571948C>A	uc002sdr.3	-	2	644	c.109G>T	c.(109-111)GGG>TGG	p.G37W	SPRED2_uc010fcw.2_Missense_Mutation_p.G34W|SPRED2_uc010fcx.1_RNA	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	37	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	65571948	65571948	15606	2	C	A	A	23	23	SPRED2	A	1	1
SPR	6697	broad.mit.edu	37	2	73118643	73118643	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73118643C>A	uc002sik.2	+	3	813	c.763C>A	c.(763-765)CAC>AAC	p.H255N		NM_003124	NP_003115	P35270	SPRE_HUMAN	sepiapterin reductase	255					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	73118643	73118643	15604	2	C	A	A	21	21	SPR	A	2	2
TET3	200424	broad.mit.edu	37	2	74274811	74274811	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74274811C>A	uc002skb.3	+	1	1362	c.1362C>A	c.(1360-1362)CCC>CCA	p.P454P	TET3_uc010fez.1_Silent_p.P454P	NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	454							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---	capture		Silent	SNP	74274811	74274811	16298	2	C	A	A	23	23	TET3	A	1	1
DCTN1	1639	broad.mit.edu	37	2	74593124	74593124	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74593124C>T	uc002skx.2	-	24	3093	c.2782G>A	c.(2782-2784)GCT>ACT	p.A928T	SLC4A5_uc002skl.2_5'Flank|DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.A794T|DCTN1_uc002sku.2_Missense_Mutation_p.A794T|DCTN1_uc002skw.1_Missense_Mutation_p.A904T|DCTN1_uc010ffd.2_Missense_Mutation_p.A908T|DCTN1_uc002sky.2_Missense_Mutation_p.A891T	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	928					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	74593124	74593124	4477	2	C	T	T	26	26	DCTN1	T	2	2
REG3A	5068	broad.mit.edu	37	2	79384706	79384706	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:79384706C>T	uc002sod.1	-	4	707	c.452G>A	c.(451-453)AGA>AAA	p.R151K	REG3A_uc002soe.1_Missense_Mutation_p.R151K|REG3A_uc002sof.1_Missense_Mutation_p.R151K	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	151	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	79384706	79384706	13681	2	C	T	T	32	32	REG3A	T	2	2
CTNNA2	1496	broad.mit.edu	37	2	80096942	80096942	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80096942G>T	uc010ysh.1	+	4	471	c.466G>T	c.(466-468)GTG>TTG	p.V156L	CTNNA2_uc010yse.1_Missense_Mutation_p.V156L|CTNNA2_uc010ysf.1_Missense_Mutation_p.V156L|CTNNA2_uc010ysg.1_Missense_Mutation_p.V156L	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	156					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	80096942	80096942	4172	2	G	T	T	44	44	CTNNA2	T	2	2
LRRTM1	347730	broad.mit.edu	37	2	80530054	80530054	+	Silent	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80530054G>C	uc002sok.1	-	2	1161	c.891C>G	c.(889-891)CCC>CCG	p.P297P	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	297	LRR 9.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---	capture		Silent	SNP	80530054	80530054	9415	2	G	C	C	43	43	LRRTM1	C	3	3
PTCD3	55037	broad.mit.edu	37	2	86359468	86359468	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86359468G>A	uc002sqw.2	+	17	1360	c.1294G>A	c.(1294-1296)GCC>ACC	p.A432T	PTCD3_uc002sqx.1_Missense_Mutation_p.A22T	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	432	PPR 7.					mitochondrion	protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	86359468	86359468	13183	2	G	A	A	46	46	PTCD3	A	2	2
SLC5A7	60482	broad.mit.edu	37	2	108608572	108608572	+	Silent	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:108608572C>T	uc002tdv.2	+	3	465	c.189C>T	c.(187-189)GTC>GTT	p.V63V	SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Silent_p.V63V|SLC5A7_uc010ywn.1_5'UTR	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	63	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)													---	---	---	---	capture		Silent	SNP	108608572	108608572	15167	2	C	T	T	31	31	SLC5A7	T	1	1
GLI2	2736	broad.mit.edu	37	2	121708906	121708906	+	Silent	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121708906C>T	uc010flp.2	+	3	372	c.342C>T	c.(340-342)CCC>CCT	p.P114P	GLI2_uc010yyu.1_Silent_p.P114P|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Silent_p.P114P	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	114					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)																---	---	---	---	capture		Silent	SNP	121708906	121708906	6706	2	C	T	T	24	24	GLI2	T	2	2
LRP1B	53353	broad.mit.edu	37	2	141245278	141245278	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141245278C>A	uc002tvj.1	-	58	10123	c.9151G>T	c.(9151-9153)GAT>TAT	p.D3051Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3051	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---	capture		Missense_Mutation	SNP	141245278	141245278	9328	2	C	A	A	29	29	LRP1B	A	2	2
LRP1B	53353	broad.mit.edu	37	2	141260667	141260667	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141260667G>T	uc002tvj.1	-	54	9499	c.8527C>A	c.(8527-8529)CGA>AGA	p.R2843R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2843	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---	capture		Silent	SNP	141260667	141260667	9328	2	G	T	T	37	37	LRP1B	T	1	1
LRP1B	53353	broad.mit.edu	37	2	141806660	141806660	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141806660C>T	uc002tvj.1	-	11	2656	c.1684G>A	c.(1684-1686)GAC>AAC	p.D562N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	562	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---	capture		Missense_Mutation	SNP	141806660	141806660	9328	2	C	T	T	32	32	LRP1B	T	2	2
ZEB2	9839	broad.mit.edu	37	2	145157345	145157345	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:145157345G>T	uc002tvu.2	-	8	1889	c.1409C>A	c.(1408-1410)ACT>AAT	p.T470N	ZEB2_uc002tvv.2_Missense_Mutation_p.T464N|ZEB2_uc010zbm.1_Missense_Mutation_p.T441N|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.T499N	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	470	SMAD-MH2 binding domain (By similarity).					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	145157345	145157345	18212	2	G	T	T	36	36	ZEB2	T	2	2
MBD5	55777	broad.mit.edu	37	2	149227994	149227994	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149227994A>T	uc002twm.3	+	9	3470	c.2482A>T	c.(2482-2484)ATT>TTT	p.I828F	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.I828F|MBD5_uc002twn.1_Missense_Mutation_p.I269F	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	828						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)														---	---	---	---	capture		Missense_Mutation	SNP	149227994	149227994	9735	2	A	T	T	8	8	MBD5	T	4	4
NEB	4703	broad.mit.edu	37	2	152385743	152385743	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152385743G>T	uc010fnx.2	-	118	16804	c.16613C>A	c.(16612-16614)GCC>GAC	p.A5538D	NEB_uc002txr.2_Missense_Mutation_p.A1961D|NEB_uc002txt.3_Missense_Mutation_p.A43D	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5538	Nebulin 151.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---	capture		Missense_Mutation	SNP	152385743	152385743	10701	2	G	T	T	42	42	NEB	T	2	2
NEB	4703	broad.mit.edu	37	2	152402505	152402505	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152402505T>A	uc010fnx.2	-	107	15562	c.15371A>T	c.(15370-15372)TAC>TTC	p.Y5124F	NEB_uc002txr.2_Missense_Mutation_p.Y1547F	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5124					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---	capture		Missense_Mutation	SNP	152402505	152402505	10701	2	T	A	A	57	57	NEB	A	4	4
SCN1A	6323	broad.mit.edu	37	2	166848156	166848156	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166848156C>T	uc010zcz.1	-	26	5614	c.5596G>A	c.(5596-5598)GGA>AGA	p.G1866R		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1877						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)													---	---	---	---	capture		Missense_Mutation	SNP	166848156	166848156	14396	2	C	T	T	24	24	SCN1A	T	2	2
XIRP2	129446	broad.mit.edu	37	2	167760089	167760089	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:167760089T>A	uc002udx.2	+	1	115	c.97T>A	c.(97-99)TGT>AGT	p.C33S	XIRP2_uc010fpn.2_Missense_Mutation_p.C33S|XIRP2_uc010fpo.2_Missense_Mutation_p.C33S|XIRP2_uc010fpp.2_Missense_Mutation_p.C33S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---	capture		Missense_Mutation	SNP	167760089	167760089	18011	2	T	A	A	63	63	XIRP2	A	4	4
LASS6	253782	broad.mit.edu	37	2	169626093	169626093	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169626093C>A	uc002ueb.1	+	10	1200	c.1076C>A	c.(1075-1077)CCC>CAC	p.P359H	LASS6_uc002uec.1_Missense_Mutation_p.P367H	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	longevity assurance homolog 6	359	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	169626093	169626093	8966	2	C	A	A	22	22	LASS6	A	2	2
LRP2	4036	broad.mit.edu	37	2	170175293	170175293	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170175293A>T	uc002ues.2	-	3	502	c.289T>A	c.(289-291)TCA>ACA	p.S97T	LRP2_uc010zdf.1_Missense_Mutation_p.S97T	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	97	LDL-receptor class A 2.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---	capture		Missense_Mutation	SNP	170175293	170175293	9329	2	A	T	T	11	11	LRP2	T	4	4
CIR1	9541	broad.mit.edu	37	2	175216406	175216406	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175216406C>A	uc002uim.2	-	8	625	c.532G>T	c.(532-534)GGG>TGG	p.G178W	CIR1_uc002uin.2_Missense_Mutation_p.G52W|CIR1_uc002uio.2_Missense_Mutation_p.G5W|CIR1_uc002uip.2_Missense_Mutation_p.G67W	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	CBF1 interacting corepressor	178					mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			large_intestine(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	175216406	175216406	3566	2	C	A	A	21	21	CIR1	A	2	2
NFE2L2	4780	broad.mit.edu	37	2	178098804	178098804	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178098804C>T	uc002ulh.3	-	2	796	c.241G>A	c.(241-243)GGT>AGT	p.G81S	NFE2L2_uc002ulg.3_Missense_Mutation_p.G65S|NFE2L2_uc010zfa.1_Missense_Mutation_p.G65S|NFE2L2_uc002uli.3_Missense_Mutation_p.G65S|NFE2L2_uc010fra.2_Missense_Mutation_p.G65S|NFE2L2_uc010frb.2_Missense_Mutation_p.G65S	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	81					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)					Mis		NSCLC|HNSCC					HNSCC(56;0.16)			---	---	---	---	capture		Missense_Mutation	SNP	178098804	178098804	10768	2	C	T	T	24	24	NFE2L2	T	2	2
TTN	7273	broad.mit.edu	37	2	179426284	179426284	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179426284T>C	uc010zfg.1	-	275	77095	c.76871A>G	c.(76870-76872)GAG>GGG	p.E25624G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E19319G|TTN_uc010zfi.1_Missense_Mutation_p.E19252G|TTN_uc010zfj.1_Missense_Mutation_p.E19127G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26551							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	179426284	179426284	17290	2	T	C	C	54	54	TTN	C	4	4
TTN	7273	broad.mit.edu	37	2	179472319	179472319	+	Missense_Mutation	SNP	C	T	T	rs72646808	by1000genomes	TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179472319C>T	uc010zfg.1	-	226	45616	c.45392G>A	c.(45391-45393)CGC>CAC	p.R15131H	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R8826H|TTN_uc010zfi.1_Missense_Mutation_p.R8759H|TTN_uc010zfj.1_Missense_Mutation_p.R8634H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16058							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	179472319	179472319	17290	2	C	T	T	27	27	TTN	T	1	1
TTN	7273	broad.mit.edu	37	2	179553856	179553856	+	Silent	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179553856A>T	uc010zfg.1	-	122	28511	c.28287T>A	c.(28285-28287)GCT>GCA	p.A9429A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.A6090A|TTN_uc010fre.1_Silent_p.A540A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10356							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	179553856	179553856	17290	2	A	T	T	11	11	TTN	T	4	4
TTN	7273	broad.mit.edu	37	2	179581848	179581848	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179581848G>T	uc010zfg.1	-	85	22105	c.21881C>A	c.(21880-21882)TCT>TAT	p.S7294Y	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3955Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8221							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	179581848	179581848	17290	2	G	T	T	33	33	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179590510	179590510	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179590510T>C	uc010zfg.1	-	67	17031	c.16807A>G	c.(16807-16809)ACT>GCT	p.T5603A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T2264A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6530							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	179590510	179590510	17290	2	T	C	C	57	57	TTN	C	4	4
TTN	7273	broad.mit.edu	37	2	179598616	179598616	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179598616G>T	uc010zfg.1	-	50	11992	c.11768C>A	c.(11767-11769)CCT>CAT	p.P3923H	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P584H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4850							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	179598616	179598616	17290	2	G	T	T	35	35	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179616020	179616020	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179616020G>T	uc002unb.2	-	46	11331	c.11107C>A	c.(11107-11109)CAA>AAA	p.Q3703K	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	179616020	179616020	17290	2	G	T	T	46	46	TTN	T	2	2
CWC22	57703	broad.mit.edu	37	2	180815259	180815259	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:180815259C>A	uc010frh.1	-	19	2420	c.2120G>T	c.(2119-2121)AGT>ATT	p.S707I	CWC22_uc002uno.2_Missense_Mutation_p.S229I|CWC22_uc002unp.2_Missense_Mutation_p.S707I	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	707	Ser-rich.					catalytic step 2 spliceosome	protein binding|RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	180815259	180815259	4228	2	C	A	A	20	20	CWC22	A	2	2
CWC22	57703	broad.mit.edu	37	2	180815448	180815448	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:180815448C>A	uc010frh.1	-	19	2231	c.1931G>T	c.(1930-1932)CGG>CTG	p.R644L	CWC22_uc002uno.2_Missense_Mutation_p.R166L|CWC22_uc002unp.2_Missense_Mutation_p.R644L	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	644						catalytic step 2 spliceosome	protein binding|RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	180815448	180815448	4228	2	C	A	A	23	23	CWC22	A	1	1
SSFA2	6744	broad.mit.edu	37	2	182787078	182787078	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:182787078C>T	uc002uoi.2	+	16	3936	c.3614C>T	c.(3613-3615)CCA>CTA	p.P1205L	SSFA2_uc002uoh.2_Missense_Mutation_p.P1205L|SSFA2_uc002uoj.2_Missense_Mutation_p.P1183L|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.P1030L|SSFA2_uc002uol.2_Missense_Mutation_p.P1052L|SSFA2_uc002uom.2_Missense_Mutation_p.P669L	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	1205						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)															---	---	---	---	capture		Missense_Mutation	SNP	182787078	182787078	15699	2	C	T	T	21	21	SSFA2	T	2	2
FRZB	2487	broad.mit.edu	37	2	183699610	183699610	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:183699610C>A	uc002upa.1	-	6	1162	c.944G>T	c.(943-945)GGC>GTC	p.G315V		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	frizzled-related protein precursor	315	Ser-rich.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)															---	---	---	---	capture		Missense_Mutation	SNP	183699610	183699610	6315	2	C	A	A	26	26	FRZB	A	2	2
SLC39A10	57181	broad.mit.edu	37	2	196599666	196599666	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196599666G>T	uc002utg.3	+	10	2611	c.2397G>T	c.(2395-2397)GGG>GGT	p.G799G	SLC39A10_uc002uth.3_Silent_p.G799G|SLC39A10_uc010zgp.1_Silent_p.G349G	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	799					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.221)															---	---	---	---	capture		Silent	SNP	196599666	196599666	15110	2	G	T	T	42	42	SLC39A10	T	2	2
DNAH7	56171	broad.mit.edu	37	2	196619071	196619071	+	Silent	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196619071A>T	uc002utj.3	-	63	11855	c.11754T>A	c.(11752-11754)CCT>CCA	p.P3918P	DNAH7_uc002uti.3_Silent_p.P401P	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3918					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---	capture		Silent	SNP	196619071	196619071	4789	2	A	T	T	11	11	DNAH7	T	4	4
HECW2	57520	broad.mit.edu	37	2	197194300	197194300	+	Silent	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197194300T>A	uc002utm.1	-	5	753	c.570A>T	c.(568-570)TCA>TCT	p.S190S	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	190	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18																		---	---	---	---	capture		Silent	SNP	197194300	197194300	7326	2	T	A	A	55	55	HECW2	A	4	4
ANKRD44	91526	broad.mit.edu	37	2	197986075	197986075	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197986075C>A	uc002uuc.2	-	8	1054	c.887G>T	c.(886-888)GGG>GTG	p.G296V	ANKRD44_uc002utz.3_5'UTR|ANKRD44_uc002uua.1_Missense_Mutation_p.G271V|ANKRD44_uc002uub.2_Missense_Mutation_p.G296V|ANKRD44_uc010zgw.1_Missense_Mutation_p.G224V	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	296	ANK 9.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)															---	---	---	---	capture		Missense_Mutation	SNP	197986075	197986075	680	2	C	A	A	22	22	ANKRD44	A	2	2
PLCL1	5334	broad.mit.edu	37	2	198949214	198949214	+	Nonsense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198949214A>T	uc010fsp.2	+	2	1264	c.973A>T	c.(973-975)AAA>TAA	p.K325*	PLCL1_uc002uuv.3_Nonsense_Mutation_p.K246*	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	325					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)													---	---	---	---	capture		Nonsense_Mutation	SNP	198949214	198949214	12465	2	A	T	T	13	13	PLCL1	T	5	4
C2orf69	205327	broad.mit.edu	37	2	200789838	200789838	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:200789838G>T	uc010zhb.1	+	2	570	c.387G>T	c.(385-387)TGG>TGT	p.W129C		NM_153689	NP_710156	Q8N8R5	CB069_HUMAN	hypothetical protein LOC205327 precursor	129						extracellular region				central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	200789838	200789838	2276	2	G	T	T	41	41	C2orf69	T	2	2
ZDBF2	57683	broad.mit.edu	37	2	207176006	207176006	+	Nonsense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207176006A>T	uc002vbp.2	+	5	7004	c.6754A>T	c.(6754-6756)AAA>TAA	p.K2252*		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2252	Poly-Lys.						nucleic acid binding|zinc ion binding			ovary(3)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	207176006	207176006	18187	2	A	T	T	9	9	ZDBF2	T	5	4
PIKFYVE	200576	broad.mit.edu	37	2	209163433	209163433	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209163433C>T	uc002vcz.2	+	8	1138	c.980C>T	c.(979-981)TCT>TTT	p.S327F	PIKFYVE_uc010fun.1_Missense_Mutation_p.S8F|PIKFYVE_uc002vcy.1_Missense_Mutation_p.S327F|PIKFYVE_uc002vcv.2_Missense_Mutation_p.S230F|PIKFYVE_uc002vcw.2_Missense_Mutation_p.S327F|PIKFYVE_uc002vcx.2_Missense_Mutation_p.S241F	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	327					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	209163433	209163433	12348	2	C	T	T	32	32	PIKFYVE	T	2	2
SPAG16	79582	broad.mit.edu	37	2	214181983	214181983	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:214181983G>C	uc002veq.2	+	5	531	c.439G>C	c.(439-441)GTT>CTT	p.V147L	SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Missense_Mutation_p.V93L|SPAG16_uc010zjk.1_Missense_Mutation_p.V53L|SPAG16_uc002veo.2_Missense_Mutation_p.V147L|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.V116L	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	147					cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)														---	---	---	---	capture		Missense_Mutation	SNP	214181983	214181983	15481	2	G	C	C	48	48	SPAG16	C	3	3
ALPP	250	broad.mit.edu	37	2	233245187	233245187	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233245187G>T	uc002vsq.2	+	7	1015	c.850G>T	c.(850-852)GTG>TTG	p.V284L	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	284						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)														---	---	---	---	capture		Missense_Mutation	SNP	233245187	233245187	551	2	G	T	T	48	48	ALPP	T	2	2
PANK2	80025	broad.mit.edu	37	20	3888926	3888926	+	Splice_Site	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3888926G>A	uc002wkc.2	+	2	987	c.981_splice	c.e2+1	p.T327_splice	PANK2_uc002wkb.2_Splice_Site_p.T36_splice|PANK2_uc010gbd.1_Splice_Site|PANK2_uc002wkd.2_Intron|PANK2_uc002wke.2_Splice_Site_p.T36_splice|PANK2_uc002wkf.2_Intron	NM_153638	NP_705902			pantothenate kinase 2 isoform 1 preproprotein						cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0																		---	---	---	---	capture		Splice_Site	SNP	3888926	3888926	11834	20	G	A	A	36	36	PANK2	A	5	2
ASXL1	171023	broad.mit.edu	37	20	31022723	31022723	+	Silent	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31022723A>T	uc002wxs.2	+	12	2634	c.2208A>T	c.(2206-2208)ACA>ACT	p.T736T	ASXL1_uc010geb.2_Silent_p.T627T	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	736					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248								F|N|Mis		MDS|CMML								---	---	---	---	capture		Silent	SNP	31022723	31022723	1085	20	A	T	T	7	7	ASXL1	T	4	4
DNMT3B	1789	broad.mit.edu	37	20	31381363	31381363	+	Missense_Mutation	SNP	G	A	A	rs138596278		TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31381363G>A	uc002wyc.2	+	10	1409	c.1088G>A	c.(1087-1089)CGT>CAT	p.R363H	DNMT3B_uc010ztx.1_Intron|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.2_Intron|DNMT3B_uc002wye.2_Intron|DNMT3B_uc010gee.2_Intron|DNMT3B_uc010gef.2_Intron|DNMT3B_uc010ztz.1_Intron|DNMT3B_uc010zua.1_Intron|DNMT3B_uc002wyf.2_Intron|DNMT3B_uc002wyg.2_Missense_Mutation_p.R62H	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	363					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	31381363	31381363	4860	20	G	A	A	40	40	DNMT3B	A	1	1
CTNNBL1	56259	broad.mit.edu	37	20	36375010	36375010	+	Splice_Site	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36375010A>T	uc010zvw.1	+	4	556	c.465_splice	c.e4+2	p.T155_splice	CTNNBL1_uc002xhh.2_5'UTR|CTNNBL1_uc010zvv.1_Missense_Mutation_p.D129V	NM_030877	NP_110517			beta catenin-like 1						apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)																---	---	---	---	capture		Splice_Site	SNP	36375010	36375010	4177	20	A	T	T	12	12	CTNNBL1	T	5	4
CHD6	84181	broad.mit.edu	37	20	40068760	40068760	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40068760C>T	uc002xka.1	-	26	4065	c.3887G>A	c.(3886-3888)AGG>AAG	p.R1296K	CHD6_uc002xkb.1_Missense_Mutation_p.R62K	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1296					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)																---	---	---	---	capture		Missense_Mutation	SNP	40068760	40068760	3463	20	C	T	T	24	24	CHD6	T	2	2
SLC12A5	57468	broad.mit.edu	37	20	44675020	44675020	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44675020G>T	uc010zxl.1	+	14	1877	c.1801G>T	c.(1801-1803)GTG>TTG	p.V601L	SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.V578L	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	601	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)													---	---	---	---	capture		Missense_Mutation	SNP	44675020	44675020	14881	20	G	T	T	36	36	SLC12A5	T	2	2
ZMYND8	23613	broad.mit.edu	37	20	45905211	45905211	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45905211G>T	uc002xta.1	-	11	1521	c.1267C>A	c.(1267-1269)CGG>AGG	p.R423R	ZMYND8_uc010ghq.1_Silent_p.R100R|ZMYND8_uc010ghr.1_Silent_p.R398R|ZMYND8_uc002xst.1_Silent_p.R398R|ZMYND8_uc002xsu.1_Silent_p.R423R|ZMYND8_uc002xsv.1_Silent_p.R398R|ZMYND8_uc002xsw.1_Silent_p.R175R|ZMYND8_uc002xsx.1_Silent_p.R175R|ZMYND8_uc002xsy.1_Silent_p.R398R|ZMYND8_uc002xsz.1_Silent_p.R360R|ZMYND8_uc010zxy.1_Silent_p.R450R|ZMYND8_uc002xtb.1_Silent_p.R443R|ZMYND8_uc002xss.2_Silent_p.R423R|ZMYND8_uc010zxz.1_Silent_p.R418R|ZMYND8_uc002xtc.1_Silent_p.R443R|ZMYND8_uc002xtd.1_Silent_p.R418R|ZMYND8_uc002xte.1_Silent_p.R423R|ZMYND8_uc010zya.1_Silent_p.R423R|ZMYND8_uc002xtf.1_Silent_p.R443R|ZMYND8_uc002xtg.2_Silent_p.R417R|ZMYND8_uc010ghs.1_Silent_p.R417R	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	423							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)															---	---	---	---	capture		Silent	SNP	45905211	45905211	18302	20	G	T	T	39	39	ZMYND8	T	1	1
CASS4	57091	broad.mit.edu	37	20	55027876	55027876	+	Silent	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:55027876G>A	uc002xxp.2	+	6	1869	c.1644G>A	c.(1642-1644)GTG>GTA	p.V548V	CASS4_uc002xxq.3_Silent_p.V548V|CASS4_uc002xxr.2_Silent_p.V548V|CASS4_uc010zze.1_Silent_p.V494V|CASS4_uc010gio.2_Intron	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	548					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	55027876	55027876	2802	20	G	A	A	45	45	CASS4	A	2	2
EDN3	1908	broad.mit.edu	37	20	57896155	57896155	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57896155A>T	uc002yap.2	+	3	818	c.449A>T	c.(448-450)CAG>CTG	p.Q150L	EDN3_uc002yao.1_Missense_Mutation_p.Q150L|EDN3_uc002yaq.2_Missense_Mutation_p.Q150L|EDN3_uc002yar.2_Missense_Mutation_p.Q150L|EDN3_uc002yas.2_Missense_Mutation_p.Q150L	NM_000114	NP_000105	P14138	EDN3_HUMAN	endothelin 3 isoform 1 preproprotein	150					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			skin(1)	1	all_lung(29;0.0115)																	---	---	---	---	capture		Missense_Mutation	SNP	57896155	57896155	5105	20	A	T	T	7	7	EDN3	T	4	4
RTEL1	51750	broad.mit.edu	37	20	62319501	62319501	+	Silent	SNP	G	A	A	rs114292675	byFrequency	TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62319501G>A	uc002yfu.1	+	19	1948	c.1605G>A	c.(1603-1605)GAG>GAA	p.E535E	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.E535E|RTEL1_uc011abd.1_Silent_p.E559E|RTEL1_uc011abe.1_Silent_p.E312E|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	535					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)															---	---	---	---	capture		Silent	SNP	62319501	62319501	14200	20	G	A	A	35	35	RTEL1	A	2	2
PRPF6	24148	broad.mit.edu	37	20	62632469	62632469	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62632469G>T	uc002yho.2	+	9	1231	c.1063G>T	c.(1063-1065)GGG>TGG	p.G355W	PRPF6_uc002yhp.2_Missense_Mutation_p.G355W	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	355					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)																	---	---	---	---	capture		Missense_Mutation	SNP	62632469	62632469	13017	20	G	T	T	47	47	PRPF6	T	2	2
UMODL1	89766	broad.mit.edu	37	21	43510517	43510517	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43510517G>T	uc002zaf.1	+	6	900	c.900G>T	c.(898-900)ACG>ACT	p.T300T	UMODL1_uc002zad.1_Silent_p.T228T|UMODL1_uc002zae.1_Silent_p.T228T|UMODL1_uc002zag.1_Silent_p.T300T|UMODL1_uc010gow.1_Silent_p.T92T|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Intron	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	300	Extracellular (Potential).|EGF-like 1; calcium-binding (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	43510517	43510517	17538	21	G	T	T	40	40	UMODL1	T	1	1
DIP2A	23181	broad.mit.edu	37	21	47931501	47931501	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47931501G>T	uc002zjo.2	+	8	1259	c.1076G>T	c.(1075-1077)GGG>GTG	p.G359V	DIP2A_uc011afy.1_Missense_Mutation_p.G295V|DIP2A_uc011afz.1_Missense_Mutation_p.G355V|DIP2A_uc002zjl.2_Missense_Mutation_p.G359V|DIP2A_uc002zjm.2_Missense_Mutation_p.G359V|DIP2A_uc010gql.2_Missense_Mutation_p.G316V|DIP2A_uc002zjn.2_Missense_Mutation_p.G359V|DIP2A_uc002zjp.1_Missense_Mutation_p.G104V	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	359					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)														---	---	---	---	capture		Missense_Mutation	SNP	47931501	47931501	4706	21	G	T	T	43	43	DIP2A	T	2	2
CCT8L2	150160	broad.mit.edu	37	22	17073266	17073266	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17073266A>G	uc002zlp.1	-	1	435	c.175T>C	c.(175-177)TTC>CTC	p.F59L		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	59					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)																---	---	---	---	capture		Missense_Mutation	SNP	17073266	17073266	3088	22	A	G	G	2	2	CCT8L2	G	4	4
CRYBB2	1415	broad.mit.edu	37	22	25627687	25627687	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:25627687G>T	uc003abp.1	+	6	614	c.566G>T	c.(565-567)CGT>CTT	p.R189L		NM_000496	NP_000487	P43320	CRBB2_HUMAN	crystallin, beta B2	189	Beta/gamma crystallin 'Greek key' 4.				response to stimulus|visual perception		structural constituent of eye lens				0																		---	---	---	---	capture		Missense_Mutation	SNP	25627687	25627687	4050	22	G	T	T	40	40	CRYBB2	T	1	1
MYO18B	84700	broad.mit.edu	37	22	26231332	26231332	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26231332C>A	uc003abz.1	+	17	3380	c.3130C>A	c.(3130-3132)CAT>AAT	p.H1044N	MYO18B_uc003aca.1_Missense_Mutation_p.H925N|MYO18B_uc010guy.1_Missense_Mutation_p.H926N|MYO18B_uc010guz.1_Missense_Mutation_p.H925N|MYO18B_uc011aka.1_Missense_Mutation_p.H198N|MYO18B_uc011akb.1_Missense_Mutation_p.H557N	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1044	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12																		---	---	---	---	capture		Missense_Mutation	SNP	26231332	26231332	10461	22	C	A	A	21	21	MYO18B	A	2	2
KREMEN1	83999	broad.mit.edu	37	22	29534767	29534767	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29534767C>G	uc011akm.1	+	7	1133	c.1120C>G	c.(1120-1122)CCA>GCA	p.P374A	KREMEN1_uc003ael.2_Missense_Mutation_p.P374A|KREMEN1_uc011akn.1_Missense_Mutation_p.P257A	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	kringle-containing transmembrane protein 1	372	Extracellular (Potential).				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			ovary(3)|lung(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	29534767	29534767	8757	22	C	G	G	22	22	KREMEN1	G	3	3
FBXO7	25793	broad.mit.edu	37	22	32889094	32889094	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32889094C>G	uc003amq.2	+	7	1253	c.970C>G	c.(970-972)CTG>GTG	p.L324V	FBXO7_uc003amr.2_Missense_Mutation_p.L210V|FBXO7_uc003ams.2_Missense_Mutation_p.L168V|FBXO7_uc003amt.2_Missense_Mutation_p.L245V|FBXO7_uc003amu.2_Missense_Mutation_p.L210V|FBXO7_uc003amv.2_Missense_Mutation_p.L23V	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	F-box only protein 7 isoform 1	324					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	32889094	32889094	5997	22	C	G	G	20	20	FBXO7	G	3	3
LARGE	9215	broad.mit.edu	37	22	33712090	33712090	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:33712090C>T	uc003and.3	-	12	2011	c.1432G>A	c.(1432-1434)GCT>ACT	p.A478T	LARGE_uc011amd.1_Missense_Mutation_p.A277T|LARGE_uc003ane.3_Missense_Mutation_p.A478T|LARGE_uc010gwp.2_Missense_Mutation_p.A426T|LARGE_uc011ame.1_Missense_Mutation_p.A410T|LARGE_uc011amf.1_Missense_Mutation_p.A478T|LARGE_uc010gwq.1_RNA	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	478	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	33712090	33712090	8950	22	C	T	T	27	27	LARGE	T	1	1
LARGE	9215	broad.mit.edu	37	22	34046621	34046621	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:34046621G>A	uc003and.3	-	4	719	c.140C>T	c.(139-141)TCC>TTC	p.S47F	LARGE_uc003ane.3_Missense_Mutation_p.S47F|LARGE_uc010gwp.2_Missense_Mutation_p.S47F|LARGE_uc011ame.1_5'UTR|LARGE_uc011amf.1_Missense_Mutation_p.S47F	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	47	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	34046621	34046621	8950	22	G	A	A	41	41	LARGE	A	2	2
RBM9	23543	broad.mit.edu	37	22	36205892	36205892	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36205892C>A	uc003aon.3	-	3	509	c.397G>T	c.(397-399)GGA>TGA	p.G133*	RBM9_uc003aog.3_Nonsense_Mutation_p.G43*|RBM9_uc003aol.3_Nonsense_Mutation_p.G63*|RBM9_uc003aoj.3_Nonsense_Mutation_p.G63*|RBM9_uc003aok.3_Nonsense_Mutation_p.G63*|RBM9_uc003aoh.3_Nonsense_Mutation_p.G63*|RBM9_uc003aom.3_Nonsense_Mutation_p.G63*|RBM9_uc010gwu.2_Nonsense_Mutation_p.G43*|RBM9_uc003aoo.3_Nonsense_Mutation_p.G133*|RBM9_uc003aop.3_Nonsense_Mutation_p.G63*	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	RNA binding motif protein 9 isoform 5	73					estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	36205892	36205892	13609	22	C	A	A	23	23	RBM9	A	5	1
PLA2G6	8398	broad.mit.edu	37	22	38525530	38525530	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38525530C>A	uc003auy.1	-	8	1253	c.1117G>T	c.(1117-1119)GGA>TGA	p.G373*	PLA2G6_uc003auz.1_Nonsense_Mutation_p.G373*|PLA2G6_uc003ava.1_Nonsense_Mutation_p.G373*|PLA2G6_uc003avb.2_Nonsense_Mutation_p.G373*|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Nonsense_Mutation_p.G338*	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	373	ANK 7.				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)													---	---	---	---	capture		Nonsense_Mutation	SNP	38525530	38525530	12434	22	C	A	A	23	23	PLA2G6	A	5	1
MGAT3	4248	broad.mit.edu	37	22	39884066	39884066	+	Nonsense_Mutation	SNP	C	A	A	rs5995740		TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39884066C>A	uc003axv.3	+	2	953	c.714C>A	c.(712-714)TGC>TGA	p.C238*	MGAT3_uc010gxy.2_Nonsense_Mutation_p.C238*	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	238	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)																	---	---	---	---	capture		Nonsense_Mutation	SNP	39884066	39884066	9934	22	C	A	A	27	27	MGAT3	A	5	1
ARFGAP3	26286	broad.mit.edu	37	22	43204781	43204781	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43204781G>T	uc003bdd.2	-	13	1532	c.1312C>A	c.(1312-1314)CAG>AAG	p.Q438K	ARFGAP3_uc010gzf.2_Missense_Mutation_p.Q394K	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	438					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	43204781	43204781	862	22	G	T	T	47	47	ARFGAP3	T	2	2
EFCAB6	64800	broad.mit.edu	37	22	44068001	44068001	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:44068001C>T	uc003bdy.1	-	15	1707	c.1492G>A	c.(1492-1494)GTT>ATT	p.V498I	EFCAB6_uc003bdz.1_Missense_Mutation_p.V346I|EFCAB6_uc010gzi.1_Missense_Mutation_p.V346I|EFCAB6_uc010gzk.1_RNA	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)																---	---	---	---	capture		Missense_Mutation	SNP	44068001	44068001	5126	22	C	T	T	17	17	EFCAB6	T	2	2
SMC1B	27127	broad.mit.edu	37	22	45779397	45779397	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45779397C>A	uc003bgc.2	-	12	2060	c.2008G>T	c.(2008-2010)GAG>TAG	p.E670*	SMC1B_uc003bgd.2_Nonsense_Mutation_p.E670*|SMC1B_uc003bge.1_Nonsense_Mutation_p.E453*	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	670	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)														---	---	---	---	capture		Nonsense_Mutation	SNP	45779397	45779397	15280	22	C	A	A	32	32	SMC1B	A	5	2
CELSR1	9620	broad.mit.edu	37	22	46793652	46793652	+	Missense_Mutation	SNP	C	A	A	rs141922879		TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46793652C>A	uc003bhw.1	-	12	5620	c.5620G>T	c.(5620-5622)GAC>TAC	p.D1874Y	CELSR1_uc011arc.1_Missense_Mutation_p.D195Y	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1874	Extracellular (Potential).|EGF-like 5; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---	capture		Missense_Mutation	SNP	46793652	46793652	3354	22	C	A	A	31	31	CELSR1	A	1	1
CERK	64781	broad.mit.edu	37	22	47095313	47095313	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47095313G>T	uc003bia.2	-	8	947	c.840C>A	c.(838-840)CTC>CTA	p.L280L	CERK_uc010hae.2_Silent_p.L82L	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	ceramide kinase	280					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			skin(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---	capture		Silent	SNP	47095313	47095313	3400	22	G	T	T	41	41	CERK	T	2	2
CNTN6	27255	broad.mit.edu	37	3	1443184	1443184	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1443184G>T	uc003boz.2	+	21	3039	c.2772G>T	c.(2770-2772)GAG>GAT	p.E924D	CNTN6_uc011asj.1_Missense_Mutation_p.E852D|CNTN6_uc003bpa.2_Missense_Mutation_p.E924D	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	924	Fibronectin type-III 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---	capture		Missense_Mutation	SNP	1443184	1443184	3783	3	G	T	T	34	34	CNTN6	T	2	2
CNTN4	152330	broad.mit.edu	37	3	3072590	3072590	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3072590G>T	uc003bpc.2	+	15	1935	c.1714G>T	c.(1714-1716)GGG>TGG	p.G572W	CNTN4_uc003bpb.1_Missense_Mutation_p.G243W|CNTN4_uc003bpd.1_Missense_Mutation_p.G572W|CNTN4_uc003bpe.2_Missense_Mutation_p.G244W|CNTN4_uc003bpf.2_Missense_Mutation_p.G243W	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	572	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)														---	---	---	---	capture		Missense_Mutation	SNP	3072590	3072590	3781	3	G	T	T	47	47	CNTN4	T	2	2
THUMPD3	25917	broad.mit.edu	37	3	9426217	9426217	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9426217G>T	uc003bro.3	+	10	1517	c.1369G>T	c.(1369-1371)GGA>TGA	p.G457*	LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Nonsense_Mutation_p.G457*	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	457							methyltransferase activity|protein binding|RNA binding			ovary(1)	1	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)														---	---	---	---	capture		Nonsense_Mutation	SNP	9426217	9426217	16412	3	G	T	T	47	47	THUMPD3	T	5	2
MTMR14	64419	broad.mit.edu	37	3	9731795	9731795	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9731795G>T	uc003brz.2	+	17	1705	c.1581G>T	c.(1579-1581)ATG>ATT	p.M527I	MTMR14_uc003bsa.2_Missense_Mutation_p.M527I|MTMR14_uc003bsb.2_Intron|MTMR14_uc011ath.1_Intron|MTMR14_uc010hcl.2_Intron|MTMR14_uc003bsc.2_Intron	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	527						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)																	---	---	---	---	capture		Missense_Mutation	SNP	9731795	9731795	10335	3	G	T	T	47	47	MTMR14	T	2	2
COLQ	8292	broad.mit.edu	37	3	15512050	15512050	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15512050C>A	uc003bzx.2	-	11	836	c.710G>T	c.(709-711)GGC>GTC	p.G237V	COLQ_uc003bzv.2_Missense_Mutation_p.G227V|COLQ_uc003bzz.2_Missense_Mutation_p.G228V|COLQ_uc010heo.2_Missense_Mutation_p.G203V|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Missense_Mutation_p.G96V|COLQ_uc003cad.1_RNA	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	acetylcholinesterase collagen-like tail subunit	237	Heparan sulfate proteoglycan binding (Potential).|Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft					0																		---	---	---	---	capture		Missense_Mutation	SNP	15512050	15512050	3851	3	C	A	A	26	26	COLQ	A	2	2
TBC1D5	9779	broad.mit.edu	37	3	17333436	17333436	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:17333436C>A	uc003cbf.2	-	15	2861	c.1196G>T	c.(1195-1197)GGG>GTG	p.G399V	TBC1D5_uc010heu.2_Intron|TBC1D5_uc010hev.2_Missense_Mutation_p.G399V|TBC1D5_uc003cbe.2_Missense_Mutation_p.G399V|TBC1D5_uc010hew.1_Missense_Mutation_p.G351V	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	399						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	17333436	17333436	16149	3	C	A	A	22	22	TBC1D5	A	2	2
SCN11A	11280	broad.mit.edu	37	3	38938418	38938418	+	Nonsense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38938418C>T	uc011ays.1	-	14	2520	c.2321G>A	c.(2320-2322)TGG>TAG	p.W774*	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	774	II.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)													---	---	---	---	capture		Nonsense_Mutation	SNP	38938418	38938418	14395	3	C	T	T	21	21	SCN11A	T	5	2
ZBTB47	92999	broad.mit.edu	37	3	42703103	42703103	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42703103C>T	uc003clu.1	+	2	574	c.472C>T	c.(472-474)CAC>TAC	p.H158Y		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	zinc finger protein 651	158	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.216)														---	---	---	---	capture		Missense_Mutation	SNP	42703103	42703103	18135	3	C	T	T	21	21	ZBTB47	T	2	2
CCR1	1230	broad.mit.edu	37	3	46244987	46244987	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46244987C>A	uc003cph.1	-	2	889	c.818G>T	c.(817-819)TGT>TTT	p.C273F	CCR3_uc003cpg.1_Intron	NM_001295	NP_001286	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	273	Extracellular (Potential).				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			skin(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)														---	---	---	---	capture		Missense_Mutation	SNP	46244987	46244987	3066	3	C	A	A	17	17	CCR1	A	2	2
ATRIP	84126	broad.mit.edu	37	3	48501973	48501973	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48501973G>T	uc003ctf.1	+	8	1552	c.1520G>T	c.(1519-1521)GGG>GTG	p.G507V	ATRIP_uc011bbj.1_Missense_Mutation_p.G380V|ATRIP_uc003ctg.1_Missense_Mutation_p.G507V|TREX1_uc010hjy.2_Intron	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	ATR interacting protein isoform 1	507					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)									Other_conserved_DNA_damage_response_genes					---	---	---	---	capture		Missense_Mutation	SNP	48501973	48501973	1224	3	G	T	T	43	43	ATRIP	T	2	2
LOC646498	646498	broad.mit.edu	37	3	49227348	49227348	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49227348C>A	uc011bcj.1	-	1	80	c.74G>T	c.(73-75)TGG>TTG	p.W25L		NM_001080528	NP_001073997			hypothetical LOC646498												0				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.00221)|KIRC - Kidney renal clear cell carcinoma(197;0.00247)														---	---	---	---	capture		Missense_Mutation	SNP	49227348	49227348	9245	3	C	A	A	21	21	LOC646498	A	2	2
ADAMTS9	56999	broad.mit.edu	37	3	64601826	64601826	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64601826C>A	uc003dmg.2	-	20	2866	c.2834G>T	c.(2833-2835)AGT>ATT	p.S945I	ADAMTS9_uc011bfo.1_Missense_Mutation_p.S917I|ADAMTS9_uc003dmh.1_Missense_Mutation_p.S774I|ADAMTS9_uc003dmk.1_Missense_Mutation_p.S945I|ADAMTS9_uc011bfp.1_5'UTR	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	945	TSP type-1 3.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)														---	---	---	---	capture		Missense_Mutation	SNP	64601826	64601826	274	3	C	A	A	20	20	ADAMTS9	A	2	2
EIF4E3	317649	broad.mit.edu	37	3	71739215	71739215	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:71739215C>G	uc003dov.3	-	6	582	c.574G>C	c.(574-576)GAA>CAA	p.E192Q	EIF4E3_uc011bgc.1_Missense_Mutation_p.E86Q|EIF4E3_uc003dox.2_Missense_Mutation_p.E86Q|EIF4E3_uc011bgd.1_Missense_Mutation_p.E86Q|EIF4E3_uc010hoc.2_Missense_Mutation_p.E86Q	NM_001134651	NP_001128123	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E	192					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)														---	---	---	---	capture		Missense_Mutation	SNP	71739215	71739215	5222	3	C	G	G	32	32	EIF4E3	G	3	3
GBE1	2632	broad.mit.edu	37	3	81719992	81719992	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:81719992T>G	uc003dqg.2	-	4	709	c.426A>C	c.(424-426)TTA>TTC	p.L142F	GBE1_uc011bgm.1_Missense_Mutation_p.L101F	NM_000158	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	142					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(3)	3		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)										Glycogen_Storage_Disease_type_IV				---	---	---	---	capture		Missense_Mutation	SNP	81719992	81719992	6536	3	T	G	G	61	61	GBE1	G	4	4
EPHA6	285220	broad.mit.edu	37	3	96706678	96706678	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:96706678G>T	uc010how.1	+	3	998	c.955G>T	c.(955-957)GAT>TAT	p.D319Y	EPHA6_uc003drp.1_Missense_Mutation_p.D319Y	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	224	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16																		---	---	---	---	capture		Missense_Mutation	SNP	96706678	96706678	5364	3	G	T	T	45	45	EPHA6	T	2	2
GPR15	2838	broad.mit.edu	37	3	98250924	98250924	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98250924C>A	uc011bgy.1	+	1	47	c.47C>A	c.(46-48)ACG>AAG	p.T16K		NM_005290	NP_005281	P49685	GPR15_HUMAN	G protein-coupled receptor 15	16	Extracellular (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)														---	---	---	---	capture		Missense_Mutation	SNP	98250924	98250924	6930	3	C	A	A	19	19	GPR15	A	1	1
DPPA2	151871	broad.mit.edu	37	3	109028117	109028117	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:109028117G>A	uc003dxo.2	-	4	489	c.242C>T	c.(241-243)CCA>CTA	p.P81L		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	81						nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	109028117	109028117	4918	3	G	A	A	47	47	DPPA2	A	2	2
CD96	10225	broad.mit.edu	37	3	111357003	111357003	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111357003G>T	uc003dxw.2	+	13	1683	c.1513G>T	c.(1513-1515)GTC>TTC	p.V505F	CD96_uc003dxx.2_Missense_Mutation_p.V489F|CD96_uc010hpy.1_Missense_Mutation_p.V488F	NM_198196	NP_937839	P40200	TACT_HUMAN	CD96 antigen isoform 1 precursor	505	Extracellular (Potential).				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				skin(2)|central_nervous_system(1)	3														Opitz_Trigonocephaly_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	111357003	111357003	3176	3	G	T	T	40	40	CD96	T	1	1
CD200	4345	broad.mit.edu	37	3	112064011	112064011	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112064011G>T	uc003dyw.2	+	4	516	c.372G>T	c.(370-372)CTG>CTT	p.L124L	CD200_uc010hqd.1_5'UTR|CD200_uc003dyx.2_Silent_p.L99L|CD200_uc003dyy.2_5'UTR|CD200_uc003dyz.2_Silent_p.L25L	NM_001004196	NP_001004196	P41217	OX2G_HUMAN	CD200 antigen isoform b	99	Ig-like V-type.|Extracellular (Potential).				regulation of immune response	integral to plasma membrane					0		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)																---	---	---	---	capture		Silent	SNP	112064011	112064011	3107	3	G	T	T	47	47	CD200	T	2	2
WDR52	55779	broad.mit.edu	37	3	113135435	113135435	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113135435C>A	uc003eae.1	-	6	656	c.610G>T	c.(610-612)GGG>TGG	p.G204W		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	204										central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	113135435	113135435	17877	3	C	A	A	24	24	WDR52	A	2	2
GAP43	2596	broad.mit.edu	37	3	115439702	115439702	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:115439702A>C	uc003ebq.2	+	3	1076	c.690A>C	c.(688-690)GAA>GAC	p.E230D	GAP43_uc003ebr.2_Missense_Mutation_p.E266D	NM_002045	NP_002036	P17677	NEUM_HUMAN	growth associated protein 43 isoform 2	230					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.164)														---	---	---	---	capture		Missense_Mutation	SNP	115439702	115439702	6499	3	A	C	C	2	2	GAP43	C	4	4
C3orf15	89876	broad.mit.edu	37	3	119462960	119462960	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119462960C>G	uc003ede.3	+	14	1896	c.1819C>G	c.(1819-1821)CGG>GGG	p.R607G	C3orf15_uc010hqz.2_Missense_Mutation_p.R545G|C3orf15_uc011bjd.1_Missense_Mutation_p.R481G|C3orf15_uc011bje.1_Missense_Mutation_p.R587G	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	443						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)														---	---	---	---	capture		Missense_Mutation	SNP	119462960	119462960	2301	3	C	G	G	27	27	C3orf15	G	3	3
GPR156	165829	broad.mit.edu	37	3	119887051	119887051	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119887051G>C	uc011bjf.1	-	9	1273	c.1273C>G	c.(1273-1275)CCT>GCT	p.P425A	GPR156_uc011bjg.1_Missense_Mutation_p.P421A	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	425	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	119887051	119887051	6936	3	G	C	C	42	42	GPR156	C	3	3
EAF2	55840	broad.mit.edu	37	3	121554135	121554135	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121554135G>T	uc003een.2	+	1	102	c.3G>T	c.(1-3)ATG>ATT	p.M1I	IQCB1_uc010hre.1_5'Flank|IQCB1_uc003eek.2_5'Flank|IQCB1_uc010hrf.1_5'Flank|EAF2_uc003eem.2_RNA|EAF2_uc003eeo.2_5'UTR	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	1					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding				0				GBM - Glioblastoma multiforme(114;0.0972)														---	---	---	---	capture		Missense_Mutation	SNP	121554135	121554135	5062	3	G	T	T	45	45	EAF2	T	2	2
UMPS	7372	broad.mit.edu	37	3	124462860	124462860	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124462860G>C	uc003ehl.3	+	6	1478	c.1372G>C	c.(1372-1374)GAT>CAT	p.D458H	UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Missense_Mutation_p.D280H|UMPS_uc011bkb.1_Missense_Mutation_p.D366H|UMPS_uc011bkc.1_Missense_Mutation_p.D280H|UMPS_uc003ehn.3_Missense_Mutation_p.D280H|UMPS_uc011bkd.1_Missense_Mutation_p.D183H	NM_000373	NP_000364	P11172	UMPS_HUMAN	uridine monophosphate synthase	458	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.146)														---	---	---	---	capture		Missense_Mutation	SNP	124462860	124462860	17539	3	G	C	C	45	45	UMPS	C	3	3
SLC12A8	84561	broad.mit.edu	37	3	124826404	124826404	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124826404G>C	uc003ehv.3	-	10	1737	c.1626C>G	c.(1624-1626)AGC>AGG	p.S542R	SLC12A8_uc003ehw.3_Missense_Mutation_p.S571R|SLC12A8_uc003eht.3_Missense_Mutation_p.S343R|SLC12A8_uc003ehu.3_Missense_Mutation_p.S295R|SLC12A8_uc010hry.2_Missense_Mutation_p.S295R	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	542					potassium ion transport	integral to membrane	symporter activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	124826404	124826404	14884	3	G	C	C	38	38	SLC12A8	C	3	3
IFT122	55764	broad.mit.edu	37	3	129221605	129221605	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129221605G>T	uc003emm.2	+	20	2633	c.2427G>T	c.(2425-2427)CTG>CTT	p.L809L	IFT122_uc003eml.2_Silent_p.L860L|IFT122_uc003emn.2_Silent_p.L750L|IFT122_uc003emo.2_Silent_p.L698L|IFT122_uc003emp.2_Silent_p.L659L|IFT122_uc010htc.2_Silent_p.L801L|IFT122_uc011bky.1_Silent_p.L600L|IFT122_uc003emq.2_Silent_p.L649L|IFT122_uc003emr.2_Silent_p.L561L|IFT122_uc011bla.1_Silent_p.L582L|IFT122_uc010hte.2_Silent_p.L135L|IFT122_uc003ems.2_Silent_p.L190L|IFT122_uc011bkx.1_Silent_p.L649L|IFT122_uc010htd.1_Silent_p.L288L	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	809					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	129221605	129221605	7856	3	G	T	T	46	46	IFT122	T	2	2
PLXND1	23129	broad.mit.edu	37	3	129289909	129289909	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129289909C>A	uc003emx.2	-	18	3674	c.3574G>T	c.(3574-3576)GGG>TGG	p.G1192W		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1192	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	129289909	129289909	12553	3	C	A	A	23	23	PLXND1	A	1	1
NEK11	79858	broad.mit.edu	37	3	130852747	130852747	+	Silent	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130852747T>C	uc003eny.2	+	7	920	c.594T>C	c.(592-594)TAT>TAC	p.Y198Y	NEK11_uc003enx.2_Silent_p.Y198Y|NEK11_uc003eoa.2_Silent_p.Y198Y|NEK11_uc003enz.2_Silent_p.Y16Y|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Silent_p.Y50Y|NEK11_uc011bll.1_Silent_p.Y198Y|NEK11_uc003enw.1_Silent_p.Y198Y|NEK11_uc011blm.1_Silent_p.Y198Y|NEK11_uc010hto.1_Silent_p.Y50Y	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11 isoform 1	198	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(4)|stomach(1)|central_nervous_system(1)	6																		---	---	---	---	capture		Silent	SNP	130852747	130852747	10722	3	T	C	C	49	49	NEK11	C	4	4
TMEM108	66000	broad.mit.edu	37	3	133098855	133098855	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133098855C>G	uc003eph.2	+	4	574	c.300C>G	c.(298-300)ATC>ATG	p.I100M	TMEM108_uc003epi.2_Missense_Mutation_p.I100M|TMEM108_uc003epj.1_Missense_Mutation_p.I100M|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.I51M	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN	transmembrane protein 108 precursor	100	Pro-rich.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	133098855	133098855	16554	3	C	G	G	31	31	TMEM108	G	3	3
EPHB1	2047	broad.mit.edu	37	3	134873074	134873074	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134873074C>A	uc003eqt.2	+	6	1598	c.1378C>A	c.(1378-1380)CCC>ACC	p.P460T	EPHB1_uc003equ.2_Missense_Mutation_p.P21T	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	460	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30																		---	---	---	---	capture		Missense_Mutation	SNP	134873074	134873074	5367	3	C	A	A	26	26	EPHB1	A	2	2
PCCB	5096	broad.mit.edu	37	3	136016830	136016830	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136016830C>G	uc003eqy.1	+	8	851	c.800C>G	c.(799-801)GCC>GGC	p.A267G	PCCB_uc003eqz.1_Missense_Mutation_p.A267G|PCCB_uc011bmc.1_Missense_Mutation_p.A287G|PCCB_uc011bmd.1_Missense_Mutation_p.A184G	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	267	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)													---	---	---	---	capture		Missense_Mutation	SNP	136016830	136016830	11925	3	C	G	G	26	26	PCCB	G	3	3
STAG1	10274	broad.mit.edu	37	3	136082280	136082280	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136082280C>A	uc003era.1	-	26	3007	c.2715G>T	c.(2713-2715)AAG>AAT	p.K905N	STAG1_uc003erb.1_Missense_Mutation_p.K905N	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	905					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	136082280	136082280	15760	3	C	A	A	24	24	STAG1	A	2	2
ZBTB38	253461	broad.mit.edu	37	3	141163969	141163969	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141163969C>A	uc003etw.2	+	8	3721	c.2739C>A	c.(2737-2739)GAC>GAA	p.D913E	ZBTB38_uc010hun.2_Missense_Mutation_p.D910E|ZBTB38_uc010huo.2_Missense_Mutation_p.D913E|ZBTB38_uc003ety.2_Missense_Mutation_p.D913E|ZBTB38_uc010hup.2_Missense_Mutation_p.D914E	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	913					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	141163969	141163969	18125	3	C	A	A	17	17	ZBTB38	A	2	2
ZBTB38	253461	broad.mit.edu	37	3	141164615	141164615	+	Nonsense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141164615C>T	uc003etw.2	+	8	4367	c.3385C>T	c.(3385-3387)CAG>TAG	p.Q1129*	ZBTB38_uc010hun.2_Nonsense_Mutation_p.Q1126*|ZBTB38_uc010huo.2_Nonsense_Mutation_p.Q1129*|ZBTB38_uc003ety.2_Nonsense_Mutation_p.Q1129*|ZBTB38_uc010hup.2_Nonsense_Mutation_p.Q1130*	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	1129	C2H2-type 10.				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	141164615	141164615	18125	3	C	T	T	21	21	ZBTB38	T	5	2
SLC9A9	285195	broad.mit.edu	37	3	142985708	142985708	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142985708G>T	uc003evn.2	-	16	1956	c.1774C>A	c.(1774-1776)CAG>AAG	p.Q592K		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	592					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	142985708	142985708	15218	3	G	T	T	47	47	SLC9A9	T	2	2
ZIC1	7545	broad.mit.edu	37	3	147131182	147131182	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:147131182C>A	uc003ewe.2	+	3	1907	c.1188C>A	c.(1186-1188)GCC>GCA	p.A396A		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	396	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Silent	SNP	147131182	147131182	18269	3	C	A	A	23	23	ZIC1	A	1	1
COMMD2	51122	broad.mit.edu	37	3	149459448	149459448	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149459448G>T	uc003exk.2	-	5	507	c.460C>A	c.(460-462)CTT>ATT	p.L154I	COMMD2_uc003exj.1_5'Flank	NM_016094	NP_057178	Q86X83	COMD2_HUMAN	COMM domain containing 2	154	COMM.						protein binding				0			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)															---	---	---	---	capture		Missense_Mutation	SNP	149459448	149459448	3854	3	G	T	T	35	35	COMMD2	T	2	2
CLRN1	7401	broad.mit.edu	37	3	150690325	150690325	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150690325A>T	uc003eyk.1	-	1	462	c.171T>A	c.(169-171)TTT>TTA	p.F57L	CLRN1OS_uc011bny.1_Intron|CLRN1OS_uc003eyl.2_5'Flank	NM_174878	NP_777367	P58418	CLRN1_HUMAN	clarin 1 isoform a	57					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane					0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)															---	---	---	---	capture		Missense_Mutation	SNP	150690325	150690325	3695	3	A	T	T	13	13	CLRN1	T	4	4
IGSF10	285313	broad.mit.edu	37	3	151163652	151163652	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151163652C>A	uc011bod.1	-	4	4117	c.4117G>T	c.(4117-4119)GCT>TCT	p.A1373S		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1373					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---	capture		Missense_Mutation	SNP	151163652	151163652	7898	3	C	A	A	25	25	IGSF10	A	2	2
IGSF10	285313	broad.mit.edu	37	3	151164717	151164717	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151164717C>A	uc011bod.1	-	4	3052	c.3052G>T	c.(3052-3054)GGA>TGA	p.G1018*		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1018					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---	capture		Nonsense_Mutation	SNP	151164717	151164717	7898	3	C	A	A	23	23	IGSF10	A	5	1
VEPH1	79674	broad.mit.edu	37	3	157188180	157188180	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:157188180T>G	uc003fbj.1	-	3	594	c.277A>C	c.(277-279)AAC>CAC	p.N93H	VEPH1_uc003fbk.1_Missense_Mutation_p.N93H|VEPH1_uc010hvu.1_Missense_Mutation_p.N93H|VEPH1_uc003fbm.2_Missense_Mutation_p.N93H|VEPH1_uc003fbn.2_Missense_Mutation_p.N93H	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	93						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)															---	---	---	---	capture		Missense_Mutation	SNP	157188180	157188180	17721	3	T	G	G	61	61	VEPH1	G	4	4
IFT80	57560	broad.mit.edu	37	3	159997010	159997010	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:159997010C>G	uc011boy.1	-	16	2240	c.1807G>C	c.(1807-1809)GAT>CAT	p.D603H	IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.D466H|IFT80_uc003fdd.1_Missense_Mutation_p.D286H|IFT80_uc003fde.1_Missense_Mutation_p.D466H	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	603						cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)															---	---	---	---	capture		Missense_Mutation	SNP	159997010	159997010	7865	3	C	G	G	32	32	IFT80	G	3	3
SI	6476	broad.mit.edu	37	3	164766995	164766995	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164766995G>T	uc003fei.2	-	15	1697	c.1635C>A	c.(1633-1635)TGC>TGA	p.C545*		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	545	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---	capture		Nonsense_Mutation	SNP	164766995	164766995	14792	3	G	T	T	46	46	SI	T	5	2
SLITRK3	22865	broad.mit.edu	37	3	164906058	164906058	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164906058C>G	uc003fej.3	-	2	3005	c.2561G>C	c.(2560-2562)GGG>GCG	p.G854A	SLITRK3_uc003fek.2_Missense_Mutation_p.G854A	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	854	Cytoplasmic (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10															HNSCC(40;0.11)			---	---	---	---	capture		Missense_Mutation	SNP	164906058	164906058	15242	3	C	G	G	22	22	SLITRK3	G	3	3
SLITRK3	22865	broad.mit.edu	37	3	164906748	164906748	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164906748G>A	uc003fej.3	-	2	2315	c.1871C>T	c.(1870-1872)CCA>CTA	p.P624L	SLITRK3_uc003fek.2_Missense_Mutation_p.P624L	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	624	Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10															HNSCC(40;0.11)			---	---	---	---	capture		Missense_Mutation	SNP	164906748	164906748	15242	3	G	A	A	47	47	SLITRK3	A	2	2
ZBBX	79740	broad.mit.edu	37	3	167000262	167000262	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167000262G>T	uc003fep.2	-	19	2224	c.1901C>A	c.(1900-1902)TCA>TAA	p.S634*	ZBBX_uc011bpc.1_Nonsense_Mutation_p.S673*|ZBBX_uc003feq.2_Nonsense_Mutation_p.S605*	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	634						intracellular	zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	167000262	167000262	18100	3	G	T	T	45	45	ZBBX	T	5	2
ZNF639	51193	broad.mit.edu	37	3	179052110	179052110	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179052110A>G	uc003fjq.1	+	6	1701	c.1358A>G	c.(1357-1359)AAG>AGG	p.K453R	ZNF639_uc003fjr.1_Missense_Mutation_p.K453R	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	zinc finger protein 639	453	Interaction with CTNNA2.|C2H2-type 7.				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)															---	---	---	---	capture		Missense_Mutation	SNP	179052110	179052110	18651	3	A	G	G	3	3	ZNF639	G	4	4
MCCC1	56922	broad.mit.edu	37	3	182756857	182756857	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:182756857T>C	uc003fle.2	-	12	1471	c.1334A>G	c.(1333-1335)CAG>CGG	p.Q445R	MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.Q328R|MCCC1_uc003flg.2_Missense_Mutation_p.Q336R|MCCC1_uc011bqp.1_Missense_Mutation_p.Q398R	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	445	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)													---	---	---	---	capture		Missense_Mutation	SNP	182756857	182756857	9763	3	T	C	C	55	55	MCCC1	C	4	4
EPHB3	2049	broad.mit.edu	37	3	184299073	184299073	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184299073C>A	uc003foz.2	+	15	3202	c.2765C>A	c.(2764-2766)CCA>CAA	p.P922Q		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	922	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)															---	---	---	---	capture		Missense_Mutation	SNP	184299073	184299073	5369	3	C	A	A	21	21	EPHB3	A	2	2
C3orf59	151963	broad.mit.edu	37	3	192635441	192635441	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:192635441C>A	uc011bsp.1	-	1	510	c.189G>T	c.(187-189)AAG>AAT	p.K63N		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	63											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)														---	---	---	---	capture		Missense_Mutation	SNP	192635441	192635441	2330	3	C	A	A	24	24	C3orf59	A	2	2
CPN2	1370	broad.mit.edu	37	3	194062993	194062993	+	Silent	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194062993G>A	uc003fts.2	-	2	529	c.439C>T	c.(439-441)CTG>TTG	p.L147L		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	147	LRR 3.				protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	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;4.65e-05)														---	---	---	---	capture		Silent	SNP	194062993	194062993	3948	3	G	A	A	35	35	CPN2	A	2	2
LRRC15	131578	broad.mit.edu	37	3	194080603	194080603	+	Silent	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194080603G>C	uc003ftu.2	-	2	1256	c.1170C>G	c.(1168-1170)GGC>GGG	p.G390G	LRRC15_uc003ftt.2_Silent_p.G396G	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	390	LRR 15.|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	194080603	194080603	9344	3	G	C	C	42	42	LRRC15	C	3	3
TM4SF19	116211	broad.mit.edu	37	3	196050764	196050764	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196050764A>T	uc003fwl.1	-	5	679	c.554T>A	c.(553-555)CTG>CAG	p.L185Q	TM4SF19_uc003fwj.2_RNA|uc003fwk.1_Missense_Mutation_p.Q10L|TM4SF19_uc010iad.1_Missense_Mutation_p.C184S|TM4SF19_uc011btv.1_Missense_Mutation_p.L159Q	NM_138461	NP_612470	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	185	Helical; (Potential).					integral to membrane					0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)														---	---	---	---	capture		Missense_Mutation	SNP	196050764	196050764	16498	3	A	T	T	7	7	TM4SF19	T	4	4
PIGZ	80235	broad.mit.edu	37	3	196675139	196675139	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196675139C>A	uc003fxh.2	-	3	776	c.629G>T	c.(628-630)CGG>CTG	p.R210L		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	210					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			ovary(3)	3	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)														---	---	---	---	capture		Missense_Mutation	SNP	196675139	196675139	12329	3	C	A	A	23	23	PIGZ	A	1	1
KIAA0226	9711	broad.mit.edu	37	3	197410253	197410253	+	Silent	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197410253C>T	uc003fyc.2	-	13	2088	c.1905G>A	c.(1903-1905)AAG>AAA	p.K635K	KIAA0226_uc003fyd.3_Silent_p.K590K|KIAA0226_uc003fye.1_Silent_p.K367K	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	635					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)														---	---	---	---	capture		Silent	SNP	197410253	197410253	8469	3	C	T	T	28	28	KIAA0226	T	2	2
ZFYVE28	57732	broad.mit.edu	37	4	2274976	2274976	+	Silent	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2274976C>G	uc003gex.1	-	10	2566	c.2247G>C	c.(2245-2247)CTG>CTC	p.L749L	ZFYVE28_uc011bvk.1_Silent_p.L679L|ZFYVE28_uc011bvl.1_Silent_p.L719L|ZFYVE28_uc003gew.1_Silent_p.L635L	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	749					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3																		---	---	---	---	capture		Silent	SNP	2274976	2274976	18260	4	C	G	G	29	29	ZFYVE28	G	3	3
RGS12	6002	broad.mit.edu	37	4	3319286	3319286	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3319286G>T	uc003ggw.2	+	2	2293	c.1389G>T	c.(1387-1389)AGG>AGT	p.R463S	RGS12_uc003ggu.2_Missense_Mutation_p.R463S|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.R463S|RGS12_uc003ggx.1_Missense_Mutation_p.R463S	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	463						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---	capture		Missense_Mutation	SNP	3319286	3319286	13769	4	G	T	T	43	43	RGS12	T	2	2
EVC2	132884	broad.mit.edu	37	4	5699318	5699318	+	Splice_Site	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5699318A>G	uc003gij.2	-	2	337	c.283_splice	c.e2+1	p.V95_splice	EVC2_uc011bwb.1_Splice_Site|EVC2_uc003gik.2_Splice_Site_p.V15_splice	NM_147127	NP_667338			limbin							integral to membrane				large_intestine(3)|ovary(2)	5																		---	---	---	---	capture		Splice_Site	SNP	5699318	5699318	5479	4	A	G	G	6	6	EVC2	G	5	4
JAKMIP1	152789	broad.mit.edu	37	4	6080723	6080723	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6080723C>A	uc003giu.3	-	8	1521	c.1245G>T	c.(1243-1245)GAG>GAT	p.E415D	JAKMIP1_uc010idb.1_Missense_Mutation_p.E415D|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.E415D|JAKMIP1_uc011bwc.1_Missense_Mutation_p.E250D|JAKMIP1_uc003giv.3_Missense_Mutation_p.E415D|JAKMIP1_uc010ide.2_Missense_Mutation_p.E415D	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	415	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	6080723	6080723	8244	4	C	A	A	32	32	JAKMIP1	A	2	2
PPP2R2C	5522	broad.mit.edu	37	4	6374278	6374278	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6374278C>A	uc003gjc.2	-	5	967	c.597G>T	c.(595-597)TGG>TGT	p.W199C	PPP2R2C_uc003gjb.2_Missense_Mutation_p.W182C|PPP2R2C_uc011bwd.1_Missense_Mutation_p.W192C|PPP2R2C_uc011bwe.1_Missense_Mutation_p.W192C|PPP2R2C_uc003gja.2_Missense_Mutation_p.W199C|PPP2R2C_uc003gjd.1_Missense_Mutation_p.W287C	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	199	WD 3.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	6374278	6374278	12822	4	C	A	A	26	26	PPP2R2C	A	2	2
BOD1L	259282	broad.mit.edu	37	4	13603499	13603499	+	Silent	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13603499T>C	uc003gmz.1	-	10	5142	c.5025A>G	c.(5023-5025)GAA>GAG	p.E1675E	BOD1L_uc010idr.1_Silent_p.E1012E	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1675							DNA binding			ovary(5)|breast(1)	6																		---	---	---	---	capture		Silent	SNP	13603499	13603499	1508	4	T	C	C	56	56	BOD1L	C	4	4
FGFBP1	9982	broad.mit.edu	37	4	15937711	15937711	+	Missense_Mutation	SNP	G	C	C	rs143807110	byFrequency	TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15937711G>C	uc003gom.2	-	2	663	c.545C>G	c.(544-546)TCT>TGT	p.S182C		NM_005130	NP_005121	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	182					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	15937711	15937711	6097	4	G	C	C	33	33	FGFBP1	C	3	3
LDB2	9079	broad.mit.edu	37	4	16504481	16504481	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16504481C>A	uc003goz.2	-	8	1223	c.907G>T	c.(907-909)GGA>TGA	p.G303*	LDB2_uc003gpa.2_3'UTR|LDB2_uc003gpb.2_Nonsense_Mutation_p.G301*|LDB2_uc011bxh.1_Nonsense_Mutation_p.G275*|LDB2_uc010iee.2_3'UTR|LDB2_uc003goy.2_Nonsense_Mutation_p.G178*|LDB2_uc011bxi.1_3'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	303	LIM-binding domain (LID) (By similarity).						LIM domain binding|transcription cofactor activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	16504481	16504481	9020	4	C	A	A	24	24	LDB2	A	5	2
SLIT2	9353	broad.mit.edu	37	4	20620527	20620527	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20620527G>T	uc003gpr.1	+	37	4689	c.4485G>T	c.(4483-4485)CTG>CTT	p.L1495L	SLIT2_uc003gps.1_Silent_p.L1487L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1495	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---	capture		Silent	SNP	20620527	20620527	15238	4	G	T	T	45	45	SLIT2	T	2	2
GABRA2	2555	broad.mit.edu	37	4	46388100	46388100	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46388100C>A	uc003gxc.3	-	2	851	c.178G>T	c.(178-180)GGA>TGA	p.G60*	GABRA2_uc010igc.2_Nonsense_Mutation_p.G60*|GABRA2_uc011bzc.1_Missense_Mutation_p.Q27H|GABRA2_uc003gxe.2_Nonsense_Mutation_p.G60*|GABRA2_uc010igd.1_Nonsense_Mutation_p.G60*	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	60	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---	capture		Nonsense_Mutation	SNP	46388100	46388100	6412	4	C	A	A	24	24	GABRA2	A	5	2
CWH43	80157	broad.mit.edu	37	4	49052848	49052848	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:49052848A>C	uc003gyv.2	+	15	2185	c.2003A>C	c.(2002-2004)AAA>ACA	p.K668T	CWH43_uc011bzl.1_Missense_Mutation_p.K641T	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	668					GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	49052848	49052848	4233	4	A	C	C	1	1	CWH43	C	4	4
LRRC66	339977	broad.mit.edu	37	4	52883611	52883611	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52883611C>A	uc003gzi.2	-	1	182	c.169G>T	c.(169-171)GAC>TAC	p.D57Y		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	57						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	52883611	52883611	9393	4	C	A	A	30	30	LRRC66	A	2	2
KIT	3815	broad.mit.edu	37	4	55602887	55602887	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55602887G>C	uc010igr.2	+	19	2684	c.2597G>C	c.(2596-2598)GGA>GCA	p.G866A	KIT_uc010igs.2_Missense_Mutation_p.G862A	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	866	Protein kinase.|Cytoplasmic (Potential).				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				---	---	---	---	capture		Missense_Mutation	SNP	55602887	55602887	8641	4	G	C	C	41	41	KIT	C	3	3
EXOC1	55763	broad.mit.edu	37	4	56768606	56768606	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:56768606G>T	uc003hbe.1	+	18	2592	c.2434G>T	c.(2434-2436)GTC>TTC	p.V812F	EXOC1_uc003hbf.1_Missense_Mutation_p.V812F|EXOC1_uc003hbg.1_Missense_Mutation_p.V797F	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	812					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---	capture		Missense_Mutation	SNP	56768606	56768606	5494	4	G	T	T	36	36	EXOC1	T	2	2
EPHA5	2044	broad.mit.edu	37	4	66189906	66189906	+	Missense_Mutation	SNP	C	T	T	rs149835568		TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:66189906C>T	uc003hcy.2	-	18	3233	c.3040G>A	c.(3040-3042)GGT>AGT	p.G1014S	EPHA5_uc003hcx.2_Missense_Mutation_p.G946S|EPHA5_uc003hcz.2_Missense_Mutation_p.G992S|EPHA5_uc011cah.1_Missense_Mutation_p.G1015S|EPHA5_uc011cai.1_Missense_Mutation_p.G993S	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	1014	Cytoplasmic (Potential).|SAM.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24															TSP Lung(17;0.13)			---	---	---	---	capture		Missense_Mutation	SNP	66189906	66189906	5363	4	C	T	T	23	23	EPHA5	T	1	1
TMPRSS11D	9407	broad.mit.edu	37	4	68725388	68725388	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68725388C>T	uc003hdq.2	-	2	82	c.17G>A	c.(16-18)CGT>CAT	p.R6H	LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc011caj.1_Intron	NM_004262	NP_004253	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	6	Cytoplasmic (Potential).				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	68725388	68725388	16782	4	C	T	T	19	19	TMPRSS11D	T	1	1
AMBN	258	broad.mit.edu	37	4	71469636	71469636	+	Missense_Mutation	SNP	G	T	T	rs141521373		TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71469636G>T	uc003hfl.2	+	12	871	c.796G>T	c.(796-798)GCA>TCA	p.A266S		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	266					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)|skin(1)	4			Lung(101;0.235)															---	---	---	---	capture		Missense_Mutation	SNP	71469636	71469636	566	4	G	T	T	42	42	AMBN	T	2	2
SLC4A4	8671	broad.mit.edu	37	4	72332198	72332198	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:72332198G>A	uc003hfy.2	+	13	1652	c.1535G>A	c.(1534-1536)GGA>GAA	p.G512E	SLC4A4_uc010iic.2_Missense_Mutation_p.G512E|SLC4A4_uc010iib.2_Missense_Mutation_p.G512E|SLC4A4_uc003hfz.2_Missense_Mutation_p.G512E|SLC4A4_uc003hgc.3_Missense_Mutation_p.G468E|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.G390E|SLC4A4_uc003hgb.3_Missense_Mutation_p.G468E	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	512	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)															---	---	---	---	capture		Missense_Mutation	SNP	72332198	72332198	15153	4	G	A	A	41	41	SLC4A4	A	2	2
GPRIN3	285513	broad.mit.edu	37	4	90169902	90169902	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:90169902T>C	uc003hsm.1	-	2	1879	c.1360A>G	c.(1360-1362)AAG>GAG	p.K454E		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	454										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)														---	---	---	---	capture		Missense_Mutation	SNP	90169902	90169902	7007	4	T	C	C	64	64	GPRIN3	C	4	4
UNC5C	8633	broad.mit.edu	37	4	96222890	96222890	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96222890G>T	uc003htp.1	-	3	511	c.357C>A	c.(355-357)GTC>GTA	p.V119V	UNC5C_uc010ilc.1_Silent_p.V119V|UNC5C_uc003htq.2_Silent_p.V119V	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	119	Extracellular (Potential).|Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)														---	---	---	---	capture		Silent	SNP	96222890	96222890	17551	4	G	T	T	41	41	UNC5C	T	2	2
METAP1	23173	broad.mit.edu	37	4	99960601	99960601	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:99960601G>A	uc003huf.3	+	5	534	c.417G>A	c.(415-417)ATG>ATA	p.M139I	METAP1_uc003hug.2_RNA	NM_015143	NP_055958	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	139					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)														---	---	---	---	capture		Missense_Mutation	SNP	99960601	99960601	9875	4	G	A	A	46	46	METAP1	A	2	2
BBS7	55212	broad.mit.edu	37	4	122754494	122754494	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122754494C>A	uc003ied.2	-	15	1742	c.1568G>T	c.(1567-1569)TGG>TTG	p.W523L	BBS7_uc003iee.1_Missense_Mutation_p.W523L	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	523					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1														Bardet-Biedl_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	122754494	122754494	1362	4	C	A	A	21	21	BBS7	A	2	2
FAT4	79633	broad.mit.edu	37	4	126239869	126239869	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126239869G>A	uc003ifj.3	+	1	2303	c.2303G>A	c.(2302-2304)GGT>GAT	p.G768D		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	768	Cadherin 7.|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	126239869	126239869	5928	4	G	A	A	44	44	FAT4	A	2	2
FAT4	79633	broad.mit.edu	37	4	126369935	126369935	+	Silent	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126369935C>T	uc003ifj.3	+	9	7764	c.7764C>T	c.(7762-7764)ACC>ACT	p.T2588T	FAT4_uc011cgp.1_Silent_p.T886T|FAT4_uc003ifi.1_Silent_p.T66T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2588	Extracellular (Potential).|Cadherin 25.				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	126369935	126369935	5928	4	C	T	T	21	21	FAT4	T	2	2
RNF150	57484	broad.mit.edu	37	4	142053810	142053810	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:142053810G>T	uc003iio.1	-	1	807	c.153C>A	c.(151-153)CCC>CCA	p.P51P	RNF150_uc010iok.1_Silent_p.P51P|RNF150_uc003iip.1_Silent_p.P51P	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	51	Extracellular (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)																	---	---	---	---	capture		Silent	SNP	142053810	142053810	13928	4	G	T	T	39	39	RNF150	T	1	1
SLC10A7	84068	broad.mit.edu	37	4	147247142	147247142	+	Missense_Mutation	SNP	C	A	A	rs147461877	byFrequency	TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:147247142C>A	uc010ioz.2	-	6	696	c.442G>T	c.(442-444)GTT>TTT	p.V148F	SLC10A7_uc003ikr.2_Missense_Mutation_p.V148F|SLC10A7_uc010ipa.2_Missense_Mutation_p.V135F|SLC10A7_uc003iks.2_RNA	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	solute carrier family 10 (sodium/bile acid	148	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity				0	all_hematologic(180;0.151)																	---	---	---	---	capture		Missense_Mutation	SNP	147247142	147247142	14874	4	C	A	A	19	19	SLC10A7	A	1	1
TTC29	83894	broad.mit.edu	37	4	147830306	147830306	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:147830306C>A	uc003ikw.3	-	5	499	c.272G>T	c.(271-273)TGG>TTG	p.W91L	TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.W117L|TTC29_uc010ipd.1_Missense_Mutation_p.W91L	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	91							binding				0	all_hematologic(180;0.151)																	---	---	---	---	capture		Missense_Mutation	SNP	147830306	147830306	17251	4	C	A	A	21	21	TTC29	A	2	2
DCLK2	166614	broad.mit.edu	37	4	151153526	151153526	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:151153526G>T	uc003ilm.3	+	9	1437	c.1337G>T	c.(1336-1338)CGA>CTA	p.R446L	DCLK2_uc003iln.3_Missense_Mutation_p.R445L|DCLK2_uc003ilo.3_Missense_Mutation_p.R463L|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	446	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)																	---	---	---	---	capture		Missense_Mutation	SNP	151153526	151153526	4463	4	G	T	T	37	37	DCLK2	T	1	1
KLKB1	3818	broad.mit.edu	37	4	187172721	187172721	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187172721G>C	uc003iyy.2	+	9	1020	c.949G>C	c.(949-951)GTT>CTT	p.V317L	KLKB1_uc011clc.1_Missense_Mutation_p.V115L|KLKB1_uc011cld.1_Missense_Mutation_p.V279L	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	317	Apple 4.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)														---	---	---	---	capture		Missense_Mutation	SNP	187172721	187172721	8726	4	G	C	C	48	48	KLKB1	C	3	3
ADAMTS16	170690	broad.mit.edu	37	5	5186325	5186325	+	Silent	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5186325T>C	uc003jdl.2	+	5	1062	c.924T>C	c.(922-924)CAT>CAC	p.H308H	ADAMTS16_uc003jdk.1_Silent_p.H308H|ADAMTS16_uc003jdj.1_Silent_p.H308H	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	308	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8																		---	---	---	---	capture		Silent	SNP	5186325	5186325	262	5	T	C	C	51	51	ADAMTS16	C	4	4
FASTKD3	79072	broad.mit.edu	37	5	7867883	7867883	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7867883C>A	uc003jeb.2	-	2	451	c.314G>T	c.(313-315)AGA>ATA	p.R105I	FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	105					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	7867883	7867883	5923	5	C	A	A	32	32	FASTKD3	A	2	2
DNAH5	1767	broad.mit.edu	37	5	13735337	13735337	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13735337G>T	uc003jfd.2	-	68	11706	c.11664C>A	c.(11662-11664)TAC>TAA	p.Y3888*	DNAH5_uc003jfc.2_Nonsense_Mutation_p.Y56*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3888					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---	capture		Nonsense_Mutation	SNP	13735337	13735337	4787	5	G	T	T	40	40	DNAH5	T	5	1
DNAH5	1767	broad.mit.edu	37	5	13864711	13864711	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13864711T>A	uc003jfd.2	-	28	4433	c.4391A>T	c.(4390-4392)CAG>CTG	p.Q1464L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1464	Potential.|Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	13864711	13864711	4787	5	T	A	A	55	55	DNAH5	A	4	4
MYO10	4651	broad.mit.edu	37	5	16818205	16818205	+	Silent	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16818205G>A	uc003jft.3	-	3	660	c.192C>T	c.(190-192)GGC>GGT	p.G64G	MYO10_uc003jfu.2_Silent_p.G31G|MYO10_uc003jfv.2_Silent_p.G64G	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	64	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Silent	SNP	16818205	16818205	10457	5	G	A	A	38	38	MYO10	A	1	1
CDH12	1010	broad.mit.edu	37	5	21975358	21975358	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:21975358G>A	uc010iuc.2	-	3	826	c.368C>T	c.(367-369)CCT>CTT	p.P123L	CDH12_uc011cno.1_Missense_Mutation_p.P123L|CDH12_uc003jgk.2_Missense_Mutation_p.P123L	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	123	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2															HNSCC(59;0.17)			---	---	---	---	capture		Missense_Mutation	SNP	21975358	21975358	3227	5	G	A	A	35	35	CDH12	A	2	2
CDH9	1007	broad.mit.edu	37	5	26881271	26881271	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:26881271C>A	uc003jgs.1	-	12	2513	c.2344G>T	c.(2344-2346)GGG>TGG	p.G782W	CDH9_uc011cnv.1_Missense_Mutation_p.G375W	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	782	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	26881271	26881271	3246	5	C	A	A	21	21	CDH9	A	2	2
SPEF2	79925	broad.mit.edu	37	5	35705881	35705881	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:35705881C>T	uc003jjo.2	+	18	2747	c.2636C>T	c.(2635-2637)ACG>ATG	p.T879M	SPEF2_uc003jjq.3_Missense_Mutation_p.T874M|SPEF2_uc003jjp.1_Missense_Mutation_p.T365M	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	879	Potential.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	35705881	35705881	15547	5	C	T	T	19	19	SPEF2	T	1	1
DDX4	54514	broad.mit.edu	37	5	55110787	55110787	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55110787C>A	uc003jqg.3	+	20	1848	c.1774C>A	c.(1774-1776)CCA>ACA	p.P592T	DDX4_uc010ivz.2_Missense_Mutation_p.P572T|DDX4_uc003jqh.3_Missense_Mutation_p.P558T|DDX4_uc003jqj.2_Missense_Mutation_p.P443T	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	592	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)																---	---	---	---	capture		Missense_Mutation	SNP	55110787	55110787	4531	5	C	A	A	22	22	DDX4	A	2	2
MAP3K1	4214	broad.mit.edu	37	5	56184162	56184162	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:56184162A>G	uc003jqw.3	+	19	4868	c.4367A>G	c.(4366-4368)AAT>AGT	p.N1456S		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	1456	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)														---	---	---	---	capture		Missense_Mutation	SNP	56184162	56184162	9626	5	A	G	G	4	4	MAP3K1	G	4	4
TRIM23	373	broad.mit.edu	37	5	64905270	64905270	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64905270C>T	uc003jty.2	-	6	930	c.844G>A	c.(844-846)GAG>AAG	p.E282K	TRIM23_uc003jtw.2_Missense_Mutation_p.E282K|TRIM23_uc003jtx.2_Missense_Mutation_p.E282K	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	282					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)														---	---	---	---	capture		Missense_Mutation	SNP	64905270	64905270	17041	5	C	T	T	32	32	TRIM23	T	2	2
ERBB2IP	55914	broad.mit.edu	37	5	65342183	65342183	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:65342183C>A	uc003juk.1	+	18	1913	c.1605C>A	c.(1603-1605)ACC>ACA	p.T535T	ERBB2IP_uc003juh.1_Silent_p.T531T|ERBB2IP_uc003jui.1_Silent_p.T535T|ERBB2IP_uc003juj.1_Silent_p.T535T|ERBB2IP_uc011cqx.1_Silent_p.T535T|ERBB2IP_uc011cqy.1_Silent_p.T535T|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Silent_p.T531T|ERBB2IP_uc003jul.1_Silent_p.T531T	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	535					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)														---	---	---	---	capture		Silent	SNP	65342183	65342183	5400	5	C	A	A	24	24	ERBB2IP	A	2	2
RGNEF	64283	broad.mit.edu	37	5	73153966	73153966	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:73153966C>A	uc011csq.1	+	15	1980	c.1969C>A	c.(1969-1971)CCA>ACA	p.P657T	RGNEF_uc003kcx.2_Missense_Mutation_p.P657T|RGNEF_uc010izf.2_Missense_Mutation_p.P657T|RGNEF_uc011csr.1_Missense_Mutation_p.P344T	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	657	Phorbol-ester/DAG-type.				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)														---	---	---	---	capture		Missense_Mutation	SNP	73153966	73153966	13756	5	C	A	A	22	22	RGNEF	A	2	2
GPR98	84059	broad.mit.edu	37	5	89989742	89989742	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:89989742G>C	uc003kju.2	+	33	7265	c.7169G>C	c.(7168-7170)AGT>ACT	p.S2390T	GPR98_uc003kjt.2_Missense_Mutation_p.S96T|GPR98_uc003kjv.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2390	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---	capture		Missense_Mutation	SNP	89989742	89989742	6997	5	G	C	C	36	36	GPR98	C	3	3
GPR98	84059	broad.mit.edu	37	5	90368330	90368330	+	Silent	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:90368330G>A	uc003kju.2	+	86	18315	c.18219G>A	c.(18217-18219)GTG>GTA	p.V6073V	GPR98_uc003kjt.2_Silent_p.V3779V|GPR98_uc003kjw.2_Silent_p.V1734V|GPR98_uc003kjx.2_Silent_p.V101V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	6073	Helical; (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---	capture		Silent	SNP	90368330	90368330	6997	5	G	A	A	47	47	GPR98	A	2	2
CHD1	1105	broad.mit.edu	37	5	98232003	98232003	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:98232003T>G	uc003knf.2	-	11	1785	c.1637A>C	c.(1636-1638)CAA>CCA	p.Q546P		NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	546	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)													---	---	---	---	capture		Missense_Mutation	SNP	98232003	98232003	3457	5	T	G	G	63	63	CHD1	G	4	4
FER	2241	broad.mit.edu	37	5	108207163	108207163	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108207163G>C	uc003kop.1	+	7	1147	c.763G>C	c.(763-765)GAT>CAT	p.D255H	FER_uc011cve.1_Missense_Mutation_p.D195H|FER_uc011cvf.1_RNA|FER_uc011cvg.1_Missense_Mutation_p.D80H	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	255	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)														---	---	---	---	capture		Missense_Mutation	SNP	108207163	108207163	6050	5	G	C	C	33	33	FER	C	3	3
WDR36	134430	broad.mit.edu	37	5	110461440	110461440	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:110461440G>A	uc003kpd.2	+	22	2770	c.2653G>A	c.(2653-2655)GAC>AAC	p.D885N	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	885					response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)														---	---	---	---	capture		Missense_Mutation	SNP	110461440	110461440	17863	5	G	A	A	41	41	WDR36	A	2	2
KCNN2	3781	broad.mit.edu	37	5	113822787	113822787	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:113822787T>A	uc003kqo.2	+	6	1752	c.1295T>A	c.(1294-1296)CTA>CAA	p.L432Q	KCNN2_uc003kqp.2_Missense_Mutation_p.L84Q|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	432	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)														---	---	---	---	capture		Missense_Mutation	SNP	113822787	113822787	8384	5	T	A	A	53	53	KCNN2	A	4	4
FBN2	2201	broad.mit.edu	37	5	127702111	127702111	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127702111C>A	uc003kuu.2	-	17	2700	c.2261G>T	c.(2260-2262)GGC>GTC	p.G754V	FBN2_uc003kuv.2_Missense_Mutation_p.G721V	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	754	TB 3.		G -> S (in CCA).		bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---	capture		Missense_Mutation	SNP	127702111	127702111	5939	5	C	A	A	26	26	FBN2	A	2	2
SLC27A6	28965	broad.mit.edu	37	5	128320941	128320941	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:128320941C>A	uc003kuy.2	+	3	993	c.597C>A	c.(595-597)ACC>ACA	p.T199T	SLC27A6_uc003kuz.2_Silent_p.T199T	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	199					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)														---	---	---	---	capture		Silent	SNP	128320941	128320941	15027	5	C	A	A	24	24	SLC27A6	A	2	2
IL4	3565	broad.mit.edu	37	5	132015524	132015524	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132015524A>G	uc003kxk.1	+	3	672	c.302A>G	c.(301-303)AAG>AGG	p.K101R	IL4_uc003kxl.1_Missense_Mutation_p.K85R	NM_000589	NP_000580	P05112	IL4_HUMAN	interleukin 4 isoform 1 precursor	101					B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding				0		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)														---	---	---	---	capture		Missense_Mutation	SNP	132015524	132015524	7997	5	A	G	G	3	3	IL4	G	4	4
FBXL21	26223	broad.mit.edu	37	5	135276949	135276949	+	Silent	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:135276949C>T	uc010jec.1	+	5	915	c.894C>T	c.(892-894)CAC>CAT	p.H298H	FBXL21_uc003lbc.2_Intron	NM_012159	NP_036291	Q9UKT6	FXL21_HUMAN	F-box and leucine-rich repeat protein 21	298					rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---	capture		Silent	SNP	135276949	135276949	5955	5	C	T	T	20	20	FBXL21	T	2	2
NRG2	9542	broad.mit.edu	37	5	139267090	139267090	+	Missense_Mutation	SNP	C	G	G	rs146573130	byFrequency	TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139267090C>G	uc003lex.1	-	2	932	c.707G>C	c.(706-708)CGG>CCG	p.R236P	NRG2_uc003lev.1_Missense_Mutation_p.R236P|NRG2_uc003lew.1_Missense_Mutation_p.R236P|NRG2_uc003ley.1_Missense_Mutation_p.R236P	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	236	Extracellular (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	139267090	139267090	11053	5	C	G	G	23	23	NRG2	G	3	3
PCDHA2	56146	broad.mit.edu	37	5	140176274	140176274	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140176274C>A	uc003lhd.2	+	1	1831	c.1725C>A	c.(1723-1725)GGC>GGA	p.G575G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.G575G|PCDHA2_uc011czy.1_Silent_p.G575G	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	575	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Silent	SNP	140176274	140176274	11944	5	C	A	A	27	27	PCDHA2	A	1	1
PCDHA3	56145	broad.mit.edu	37	5	140180879	140180879	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140180879T>A	uc003lhf.2	+	1	97	c.97T>A	c.(97-99)TAC>AAC	p.Y33N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.Y33N	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	33	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140180879	140180879	11945	5	T	A	A	53	53	PCDHA3	A	4	4
PCDHA4	56144	broad.mit.edu	37	5	140188675	140188675	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140188675C>G	uc003lhi.2	+	1	2004	c.1903C>G	c.(1903-1905)CGT>GGT	p.R635G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R635G|PCDHA4_uc011daa.1_Missense_Mutation_p.R635G	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	635	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140188675	140188675	11946	5	C	G	G	27	27	PCDHA4	G	3	3
PCDHA13	56136	broad.mit.edu	37	5	140263823	140263823	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140263823C>A	uc003lif.2	+	1	1970	c.1970C>A	c.(1969-1971)CCC>CAC	p.P657H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.P657H|PCDHA13_uc003lid.2_Missense_Mutation_p.P657H	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	657	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140263823	140263823	11943	5	C	A	A	22	22	PCDHA13	A	2	2
PCDHB9	56127	broad.mit.edu	37	5	140567751	140567751	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140567751G>A	uc003liw.1	+	1	859	c.859G>A	c.(859-861)GAT>AAT	p.D287N		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	287	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---	capture		Missense_Mutation	SNP	140567751	140567751	11969	5	G	A	A	33	33	PCDHB9	A	2	2
SH3TC2	79628	broad.mit.edu	37	5	148427424	148427424	+	Splice_Site	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148427424C>A	uc003lpu.2	-	3	431	c.279_splice	c.e3+1	p.K93_splice	SH3TC2_uc003lpp.1_Splice_Site|SH3TC2_uc003lpt.2_Splice_Site|SH3TC2_uc010jgx.2_Splice_Site_p.K93_splice|SH3TC2_uc003lpv.1_Splice_Site|SH3TC2_uc011dbz.1_Splice_Site|SH3TC2_uc003lpw.1_Missense_Mutation_p.V94L	NM_024577	NP_078853			SH3 domain and tetratricopeptide repeats 2								binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Splice_Site	SNP	148427424	148427424	14754	5	C	A	A	18	18	SH3TC2	A	5	2
NDST1	3340	broad.mit.edu	37	5	149912589	149912589	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149912589A>C	uc003lsk.3	+	4	1593	c.1091A>C	c.(1090-1092)CAC>CCC	p.H364P	NDST1_uc011dcj.1_Missense_Mutation_p.H364P|NDST1_uc003lsl.2_Missense_Mutation_p.H364P	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	364	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).			H -> Q (in Ref. 4; AAH12888).	heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---	capture		Missense_Mutation	SNP	149912589	149912589	10654	5	A	C	C	6	6	NDST1	C	4	4
C5orf4	10826	broad.mit.edu	37	5	154200021	154200021	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154200021C>A	uc003lvs.3	-	9	1028	c.857G>T	c.(856-858)TGC>TTC	p.C286F	C5orf4_uc003lvq.2_5'Flank|C5orf4_uc003lvr.2_Missense_Mutation_p.A26S|C5orf4_uc011dde.1_Missense_Mutation_p.C263F	NM_032385	NP_115761	Q96IV6	CE004_HUMAN	hypothetical protein LOC10826	286					fatty acid biosynthetic process	integral to membrane	iron ion binding|oxidoreductase activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---	capture		Missense_Mutation	SNP	154200021	154200021	2396	5	C	A	A	25	25	C5orf4	A	2	2
ATP10B	23120	broad.mit.edu	37	5	160061389	160061389	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:160061389C>A	uc003lym.1	-	12	2200	c.1353G>T	c.(1351-1353)ATG>ATT	p.M451I	ATP10B_uc003lyp.2_Missense_Mutation_p.M451I|ATP10B_uc011deg.1_Missense_Mutation_p.M495I|ATP10B_uc003lyn.2_Missense_Mutation_p.M9I|ATP10B_uc003lyo.2_Missense_Mutation_p.M423I	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	451	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---	capture		Missense_Mutation	SNP	160061389	160061389	1136	5	C	A	A	21	21	ATP10B	A	2	2
DOCK2	1794	broad.mit.edu	37	5	169461420	169461420	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169461420C>A	uc003maf.2	+	35	3565	c.3485C>A	c.(3484-3486)GCA>GAA	p.A1162E	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.A654E	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1162	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---	capture		Missense_Mutation	SNP	169461420	169461420	4871	5	C	A	A	25	25	DOCK2	A	2	2
DRD1	1812	broad.mit.edu	37	5	174870066	174870066	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:174870066C>A	uc003mcz.2	-	2	982	c.37G>T	c.(37-39)GGG>TGG	p.G13W		NM_000794	NP_000785	P21728	DRD1_HUMAN	dopamine receptor D1	13	Extracellular (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			ovary(2)|skin(1)	3	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)													---	---	---	---	capture		Missense_Mutation	SNP	174870066	174870066	4940	5	C	A	A	21	21	DRD1	A	2	2
HK3	3101	broad.mit.edu	37	5	176317638	176317638	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176317638C>A	uc003mfa.2	-	6	720	c.628G>T	c.(628-630)GGG>TGG	p.G210W	HK3_uc003mez.2_5'Flank	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	210	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---	capture		Missense_Mutation	SNP	176317638	176317638	7483	5	C	A	A	22	22	HK3	A	2	2
COL23A1	91522	broad.mit.edu	37	5	177690210	177690210	+	Missense_Mutation	SNP	G	T	T	rs112924647		TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:177690210G>T	uc003mje.2	-	9	996	c.638C>A	c.(637-639)GCG>GAG	p.A213E	COL23A1_uc010jkt.2_Silent_p.R61R	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	213	Extracellular (Potential).|Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)														---	---	---	---	capture		Missense_Mutation	SNP	177690210	177690210	3820	5	G	T	T	38	38	COL23A1	T	1	1
TBC1D9B	23061	broad.mit.edu	37	5	179305398	179305398	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179305398G>T	uc003mlh.2	-	10	1730	c.1693C>A	c.(1693-1695)CCT>ACT	p.P565T	TBC1D9B_uc003mli.2_Missense_Mutation_p.P565T|TBC1D9B_uc003mlj.2_Missense_Mutation_p.P565T	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	565	Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---	capture		Missense_Mutation	SNP	179305398	179305398	16154	5	G	T	T	43	43	TBC1D9B	T	2	2
BTNL8	79908	broad.mit.edu	37	5	180338406	180338406	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180338406G>T	uc003mmp.2	+	3	699	c.465G>T	c.(463-465)CAG>CAT	p.Q155H	BTNL8_uc003mmq.2_Missense_Mutation_p.Q155H|BTNL8_uc011dhg.1_Missense_Mutation_p.Q30H|BTNL8_uc010jll.2_Missense_Mutation_p.Q155H|BTNL8_uc010jlm.2_Missense_Mutation_p.Q39H|BTNL8_uc011dhh.1_5'UTR	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	155	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---	capture		Missense_Mutation	SNP	180338406	180338406	1601	5	G	T	T	36	36	BTNL8	T	2	2
PRPF4B	8899	broad.mit.edu	37	6	4032475	4032475	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4032475C>A	uc003mvv.2	+	2	815	c.724C>A	c.(724-726)CCT>ACT	p.P242T	PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	242	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)																---	---	---	---	capture		Missense_Mutation	SNP	4032475	4032475	13016	6	C	A	A	22	22	PRPF4B	A	2	2
PRPF4B	8899	broad.mit.edu	37	6	4032634	4032634	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4032634C>T	uc003mvv.2	+	2	974	c.883C>T	c.(883-885)CCA>TCA	p.P295S	PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	295	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)																---	---	---	---	capture		Missense_Mutation	SNP	4032634	4032634	13016	6	C	T	T	22	22	PRPF4B	T	2	2
F13A1	2162	broad.mit.edu	37	6	6266881	6266881	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:6266881A>T	uc003mwv.2	-	4	604	c.481T>A	c.(481-483)TAT>AAT	p.Y161N	F13A1_uc011dib.1_Missense_Mutation_p.Y98N	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	161					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)													---	---	---	---	capture		Missense_Mutation	SNP	6266881	6266881	5534	6	A	T	T	14	14	F13A1	T	4	4
CAGE1	285782	broad.mit.edu	37	6	7365779	7365779	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7365779C>A	uc003mxi.2	-	7	2347	c.1626G>T	c.(1624-1626)AAG>AAT	p.K542N	CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.K460N|CAGE1_uc003mxk.1_Missense_Mutation_p.K460N	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN	cancer antigen 1	678											0	Ovarian(93;0.0418)																	---	---	---	---	capture		Missense_Mutation	SNP	7365779	7365779	2688	6	C	A	A	32	32	CAGE1	A	2	2
NHLRC1	378884	broad.mit.edu	37	6	18121939	18121939	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:18121939C>G	uc003ncl.1	-	1	913	c.899G>C	c.(898-900)AGT>ACT	p.S300T		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	300	NHL 4.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)															---	---	---	---	capture		Missense_Mutation	SNP	18121939	18121939	10805	6	C	G	G	20	20	NHLRC1	G	3	3
HIST1H4C	8364	broad.mit.edu	37	6	26104290	26104290	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26104290G>T	uc003ngi.2	+	1	115	c.115G>T	c.(115-117)GCT>TCT	p.A39S		NM_003542	NP_003533	P62805	H4_HUMAN	histone cluster 1, H4c	39					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	26104290	26104290	7452	6	G	T	T	42	42	HIST1H4C	T	2	2
HIST1H3E	8353	broad.mit.edu	37	6	26225436	26225436	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26225436C>A	uc003nhb.2	+	2	414	c.54C>A	c.(52-54)CGC>CGA	p.R18R	HIST1H3E_uc003nhc.3_Silent_p.R18R	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	18					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)																---	---	---	---	capture		Silent	SNP	26225436	26225436	7444	6	C	A	A	25	25	HIST1H3E	A	2	2
ZNF391	346157	broad.mit.edu	37	6	27368915	27368915	+	Nonsense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27368915A>T	uc003njf.1	+	3	1284	c.766A>T	c.(766-768)AAA>TAA	p.K256*		NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	256	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(2)|skin(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	27368915	27368915	18472	6	A	T	T	1	1	ZNF391	T	5	4
OR14J1	442191	broad.mit.edu	37	6	29275320	29275320	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29275320C>A	uc011dln.1	+	1	854	c.854C>A	c.(853-855)CCA>CAA	p.P285Q		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	29275320	29275320	11354	6	C	A	A	21	21	OR14J1	A	2	2
MSH5	4439	broad.mit.edu	37	6	31727960	31727960	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31727960C>A	uc003nwv.1	+	19	1858	c.1779C>A	c.(1777-1779)CCC>CCA	p.P593P	MSH5_uc003nwt.1_Silent_p.P610P|MSH5_uc003nwu.1_Silent_p.P593P|MSH5_uc003nww.1_Silent_p.P593P|MSH5_uc003nwx.1_Silent_p.P610P|MSH5_uc011dof.1_Silent_p.P292P|MSH5_uc003nwy.1_Silent_p.P267P|MSH5_uc003nwz.3_RNA|C6orf26_uc003nxa.3_5'Flank	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	593	ATP (Potential).				chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3													Direct_reversal_of_damage|MMR					---	---	---	---	capture		Silent	SNP	31727960	31727960	10266	6	C	A	A	21	21	MSH5	A	2	2
SLC39A7	7922	broad.mit.edu	37	6	33170829	33170829	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33170829C>A	uc003odf.2	+	7	1200	c.1083C>A	c.(1081-1083)CCC>CCA	p.P361P	RXRB_uc003odb.2_5'Flank|RXRB_uc003odc.2_5'Flank|RXRB_uc003odd.2_5'Flank|RXRB_uc011dqr.1_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.2_Silent_p.P361P|SLC39A7_uc011dqv.1_Silent_p.P236P|SLC39A7_uc003odh.2_Silent_p.P9P|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_001070984	Q92504	S39A7_HUMAN	solute carrier family 39, member 7	361						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			large_intestine(1)	1																		---	---	---	---	capture		Silent	SNP	33170829	33170829	15120	6	C	A	A	22	22	SLC39A7	A	2	2
KIFC1	3833	broad.mit.edu	37	6	33371295	33371295	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33371295C>A	uc003oef.3	+	5	788	c.338C>A	c.(337-339)CCT>CAT	p.P113H	KIFC1_uc011drf.1_Missense_Mutation_p.P113H	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	113					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	33371295	33371295	8623	6	C	A	A	24	24	KIFC1	A	2	2
CPNE5	57699	broad.mit.edu	37	6	36710197	36710197	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:36710197G>T	uc003omr.1	-	21	1697	c.1630C>A	c.(1630-1632)CGA>AGA	p.R544R	CPNE5_uc003omp.1_Silent_p.R252R|CPNE5_uc010jwn.1_Silent_p.R194R|CPNE5_uc003omq.1_Silent_p.R194R	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	544	VWFA.									skin(1)	1																		---	---	---	---	capture		Silent	SNP	36710197	36710197	3953	6	G	T	T	39	39	CPNE5	T	1	1
DNAH8	1769	broad.mit.edu	37	6	38802366	38802366	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38802366G>T	uc003ooe.1	+	30	4263	c.3663G>T	c.(3661-3663)ATG>ATT	p.M1221I		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---	capture		Missense_Mutation	SNP	38802366	38802366	4790	6	G	T	T	47	47	DNAH8	T	2	2
KCNK5	8645	broad.mit.edu	37	6	39162006	39162006	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39162006G>T	uc003oon.2	-	4	937	c.573C>A	c.(571-573)ATC>ATA	p.I191I		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	191					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	39162006	39162006	8374	6	G	T	T	37	37	KCNK5	T	1	1
LRFN2	57497	broad.mit.edu	37	6	40399687	40399687	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:40399687G>C	uc003oph.1	-	2	1631	c.1166C>G	c.(1165-1167)ACT>AGT	p.T389S		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	389	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)																	---	---	---	---	capture		Missense_Mutation	SNP	40399687	40399687	9311	6	G	C	C	36	36	LRFN2	C	3	3
XPO5	57510	broad.mit.edu	37	6	43538732	43538732	+	Splice_Site	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43538732C>A	uc003ovp.2	-	4	512	c.301_splice	c.e4-1	p.G101_splice		NM_020750	NP_065801			exportin 5						gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)															---	---	---	---	capture		Splice_Site	SNP	43538732	43538732	18030	6	C	A	A	24	24	XPO5	A	5	2
TDRD6	221400	broad.mit.edu	37	6	46656980	46656980	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46656980T>A	uc003oyj.2	+	1	1115	c.1115T>A	c.(1114-1116)GTG>GAG	p.V372E	TDRD6_uc010jze.2_Missense_Mutation_p.V366E	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	372					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	46656980	46656980	16261	6	T	A	A	59	59	TDRD6	A	4	4
CRISP1	167	broad.mit.edu	37	6	49816007	49816007	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49816007C>A	uc003ozw.2	-	4	280	c.201G>T	c.(199-201)TGG>TGT	p.W67C	CRISP1_uc003ozx.2_Missense_Mutation_p.W67C	NM_001131	NP_001122	P54107	CRIS1_HUMAN	acidic epididymal glycoprotein-like 1 isoform 1	67					fusion of sperm to egg plasma membrane	extracellular space					0	Lung NSC(77;0.0358)																	---	---	---	---	capture		Missense_Mutation	SNP	49816007	49816007	4018	6	C	A	A	30	30	CRISP1	A	2	2
DEFB112	245915	broad.mit.edu	37	6	50011464	50011464	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:50011464C>G	uc011dws.1	-	2	166	c.166G>C	c.(166-168)GCG>CCG	p.A56P		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	beta-defensin 112 precursor	56					defense response to bacterium	extracellular region				central_nervous_system(1)	1	Lung NSC(77;0.042)																	---	---	---	---	capture		Missense_Mutation	SNP	50011464	50011464	4578	6	C	G	G	28	28	DEFB112	G	3	3
GSTA1	2938	broad.mit.edu	37	6	52661110	52661110	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52661110C>A	uc003paz.2	-	4	254	c.142G>T	c.(142-144)GGA>TGA	p.G48*		NM_145740	NP_665683	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	48	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)													---	---	---	---	capture		Nonsense_Mutation	SNP	52661110	52661110	7110	6	C	A	A	21	21	GSTA1	A	5	2
DST	667	broad.mit.edu	37	6	56394534	56394534	+	Silent	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56394534T>C	uc003pdf.2	-	60	10978	c.10950A>G	c.(10948-10950)TTA>TTG	p.L3650L	DST_uc003pcz.3_Silent_p.L3472L|DST_uc011dxj.1_Silent_p.L3501L|DST_uc011dxk.1_Silent_p.L3512L|DST_uc003pcy.3_Silent_p.L3146L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5558	Spectrin 9.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---	capture		Silent	SNP	56394534	56394534	4967	6	T	C	C	57	57	DST	C	4	4
BAI3	577	broad.mit.edu	37	6	69666600	69666600	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:69666600G>T	uc003pev.3	+	8	1872	c.1424G>T	c.(1423-1425)TGG>TTG	p.W475L	BAI3_uc010kak.2_Missense_Mutation_p.W475L	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	475	TSP type-1 4.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)																---	---	---	---	capture		Missense_Mutation	SNP	69666600	69666600	1321	6	G	T	T	47	47	BAI3	T	2	2
EEF1A1	1915	broad.mit.edu	37	6	74228328	74228328	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74228328C>A	uc003phi.2	-	5	815	c.778G>T	c.(778-780)GGT>TGT	p.G260C	EEF1A1_uc003phd.2_5'UTR|EEF1A1_uc003phe.2_Missense_Mutation_p.G250C|EEF1A1_uc003phf.2_Missense_Mutation_p.G260C|EEF1A1_uc003phg.2_Missense_Mutation_p.G260C|EEF1A1_uc003phh.2_Missense_Mutation_p.G106C|EEF1A1_uc003phj.2_Missense_Mutation_p.G260C|EEF1A1_uc003phk.2_Missense_Mutation_p.G260C|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha	260						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0																OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---	capture		Missense_Mutation	SNP	74228328	74228328	5110	6	C	A	A	21	21	EEF1A1	A	2	2
COL12A1	1303	broad.mit.edu	37	6	75825592	75825592	+	Silent	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75825592A>T	uc003phs.2	-	49	7771	c.7605T>A	c.(7603-7605)GCT>GCA	p.A2535A	COL12A1_uc003pht.2_Silent_p.A1371A	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2535	TSP N-terminal.|Nonhelical region (NC3).				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---	capture		Silent	SNP	75825592	75825592	3807	6	A	T	T	3	3	COL12A1	T	4	4
COL12A1	1303	broad.mit.edu	37	6	75836185	75836185	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75836185C>A	uc003phs.2	-	39	6508	c.6342G>T	c.(6340-6342)GTG>GTT	p.V2114V	COL12A1_uc003pht.2_Silent_p.V950V	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2114					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---	capture		Silent	SNP	75836185	75836185	3807	6	C	A	A	21	21	COL12A1	A	2	2
HTR1E	3354	broad.mit.edu	37	6	87726039	87726039	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:87726039G>T	uc003pli.2	+	2	1690	c.987G>T	c.(985-987)CTG>CTT	p.L329L		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	329	Helical; Name=7; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)													---	---	---	---	capture		Silent	SNP	87726039	87726039	7739	6	G	T	T	45	45	HTR1E	T	2	2
CNR1	1268	broad.mit.edu	37	6	88853983	88853983	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88853983C>A	uc011dzq.1	-	2	4574	c.1011G>T	c.(1009-1011)ATG>ATT	p.M337I	CNR1_uc010kbz.2_Missense_Mutation_p.M337I|CNR1_uc011dzr.1_Missense_Mutation_p.M337I|CNR1_uc011dzs.1_Missense_Mutation_p.M337I|CNR1_uc003pmq.3_Missense_Mutation_p.M337I|CNR1_uc011dzt.1_Missense_Mutation_p.M337I|CNR1_uc010kca.2_Missense_Mutation_p.M304I	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	337	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		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;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)													---	---	---	---	capture		Missense_Mutation	SNP	88853983	88853983	3769	6	C	A	A	21	21	CNR1	A	2	2
EPHA7	2045	broad.mit.edu	37	6	93969136	93969136	+	Silent	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:93969136A>T	uc003poe.2	-	10	2101	c.1860T>A	c.(1858-1860)GCT>GCA	p.A620A	EPHA7_uc003pof.2_Silent_p.A615A|EPHA7_uc011eac.1_Silent_p.A616A	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	620	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)														---	---	---	---	capture		Silent	SNP	93969136	93969136	5365	6	A	T	T	7	7	EPHA7	T	4	4
BEND3	57673	broad.mit.edu	37	6	107391211	107391211	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107391211T>A	uc003prs.2	-	5	1834	c.1184A>T	c.(1183-1185)CAG>CTG	p.Q395L		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	395	BEN 2.									ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	107391211	107391211	1422	6	T	A	A	55	55	BEND3	A	4	4
FRK	2444	broad.mit.edu	37	6	116288787	116288787	+	Silent	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:116288787A>T	uc003pwi.1	-	4	1173	c.726T>A	c.(724-726)TCT>TCA	p.S242S		NM_002031	NP_002022	P42685	FRK_HUMAN	fyn-related kinase	242	ATP (By similarity).|Protein kinase.				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		Silent	SNP	116288787	116288787	6298	6	A	T	T	7	7	FRK	T	4	4
ROS1	6098	broad.mit.edu	37	6	117714485	117714485	+	Splice_Site	SNP	C	G	G	rs150002762		TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117714485C>G	uc003pxp.1	-	11	1364	c.1165_splice	c.e11-1	p.V389_splice	ROS1_uc011ebi.1_Splice_Site|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935			proto-oncogene c-ros-1 protein precursor						transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)				T	GOPC|ROS1	glioblastoma|NSCLC								---	---	---	---	capture		Splice_Site	SNP	117714485	117714485	14010	6	C	G	G	24	24	ROS1	G	5	3
MAN1A1	4121	broad.mit.edu	37	6	119514988	119514988	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:119514988T>A	uc003pym.1	-	9	1722	c.1280A>T	c.(1279-1281)GAC>GTC	p.D427V		NM_005907	NP_005898	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	427	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)														---	---	---	---	capture		Missense_Mutation	SNP	119514988	119514988	9593	6	T	A	A	58	58	MAN1A1	A	4	4
C6orf170	221322	broad.mit.edu	37	6	121577251	121577251	+	Silent	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:121577251A>G	uc003pyo.1	-	16	1982	c.1914T>C	c.(1912-1914)TCT>TCC	p.S638S	C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Silent_p.S157S	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	638					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)														---	---	---	---	capture		Silent	SNP	121577251	121577251	2449	6	A	G	G	15	15	C6orf170	G	4	4
GJA1	2697	broad.mit.edu	37	6	121768886	121768886	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:121768886G>C	uc003pyr.2	+	2	1143	c.893G>C	c.(892-894)TGC>TCC	p.C298S	GJA1_uc011ebo.1_Missense_Mutation_p.C199S|GJA1_uc011ebp.1_Missense_Mutation_p.C86S	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	298	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)													---	---	---	---	capture		Missense_Mutation	SNP	121768886	121768886	6668	6	G	C	C	46	46	GJA1	C	3	3
FABP7	2173	broad.mit.edu	37	6	123101603	123101603	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123101603T>C	uc003pzf.2	+	2	535	c.241T>C	c.(241-243)TGT>CGT	p.C81R	FABP7_uc003pzd.2_Missense_Mutation_p.C81R|FABP7_uc003pze.1_Missense_Mutation_p.C81R	NM_001446	NP_001437	O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	81					negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity				0				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)													---	---	---	---	capture		Missense_Mutation	SNP	123101603	123101603	5559	6	T	C	C	55	55	FABP7	C	4	4
CLVS2	134829	broad.mit.edu	37	6	123376952	123376952	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123376952T>G	uc003pzi.1	+	5	1546	c.677T>G	c.(676-678)ATA>AGA	p.I226R		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	226	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	123376952	123376952	3710	6	T	G	G	49	49	CLVS2	G	4	4
THEMIS	387357	broad.mit.edu	37	6	128134372	128134372	+	Missense_Mutation	SNP	C	A	A	rs144858181		TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128134372C>A	uc003qbi.2	-	5	1733	c.1414G>T	c.(1414-1416)GTG>TTG	p.V472L	THEMIS_uc010kfa.2_Missense_Mutation_p.V375L|THEMIS_uc011ebt.1_Missense_Mutation_p.V472L|THEMIS_uc010kfb.2_Missense_Mutation_p.V437L	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	472	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	128134372	128134372	16388	6	C	A	A	19	19	THEMIS	A	1	1
THEMIS	387357	broad.mit.edu	37	6	128150997	128150997	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128150997T>A	uc003qbi.2	-	4	652	c.333A>T	c.(331-333)AGA>AGT	p.R111S	THEMIS_uc010kfa.2_Missense_Mutation_p.R14S|THEMIS_uc011ebt.1_Missense_Mutation_p.R111S|THEMIS_uc010kfb.2_Missense_Mutation_p.R76S	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	111	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	128150997	128150997	16388	6	T	A	A	58	58	THEMIS	A	4	4
LAMA2	3908	broad.mit.edu	37	6	129759879	129759879	+	Silent	SNP	T	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129759879T>G	uc003qbn.2	+	42	6162	c.6057T>G	c.(6055-6057)ACT>ACG	p.T2019T	LAMA2_uc003qbo.2_Silent_p.T2019T	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2019	Domain II and I.|Potential.				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	129759879	129759879	8929	6	T	G	G	56	56	LAMA2	G	4	4
TMEM200A	114801	broad.mit.edu	37	6	130762800	130762800	+	Silent	SNP	A	G	G	rs141922342	byFrequency	TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130762800A>G	uc003qca.2	+	3	2104	c.1233A>G	c.(1231-1233)GCA>GCG	p.A411A	TMEM200A_uc010kfh.2_Silent_p.A411A|TMEM200A_uc010kfi.2_Silent_p.A411A|TMEM200A_uc003qcb.2_Silent_p.A411A	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	411	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)														---	---	---	---	capture		Silent	SNP	130762800	130762800	16658	6	A	G	G	7	7	TMEM200A	G	4	4
TXLNB	167838	broad.mit.edu	37	6	139609763	139609763	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:139609763C>A	uc011eds.1	-	2	439	c.274G>T	c.(274-276)GCA>TCA	p.A92S		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	92						cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)														---	---	---	---	capture		Missense_Mutation	SNP	139609763	139609763	17344	6	C	A	A	25	25	TXLNB	A	2	2
SHPRH	257218	broad.mit.edu	37	6	146264293	146264293	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146264293A>T	uc003qlf.2	-	9	2623	c.2224T>A	c.(2224-2226)TCT>ACT	p.S742T	SHPRH_uc003qld.2_Missense_Mutation_p.S742T|SHPRH_uc003qle.2_Missense_Mutation_p.S742T|SHPRH_uc003qlg.1_Missense_Mutation_p.S298T|SHPRH_uc003qlj.1_Missense_Mutation_p.S631T	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	742	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)														---	---	---	---	capture		Missense_Mutation	SNP	146264293	146264293	14786	6	A	T	T	12	12	SHPRH	T	4	4
SYNE1	23345	broad.mit.edu	37	6	152644691	152644691	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152644691T>C	uc010kiw.2	-	82	16441	c.15839A>G	c.(15838-15840)CAG>CGG	p.Q5280R	SYNE1_uc003qot.3_Missense_Mutation_p.Q5209R|SYNE1_uc003qou.3_Missense_Mutation_p.Q5280R|SYNE1_uc010kiz.2_Missense_Mutation_p.Q1035R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5280	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---	capture		Missense_Mutation	SNP	152644691	152644691	15966	6	T	C	C	55	55	SYNE1	C	4	4
SLC22A2	6582	broad.mit.edu	37	6	160671686	160671686	+	Silent	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160671686T>A	uc003qtf.2	-	3	737	c.567A>T	c.(565-567)GCA>GCT	p.A189A	SLC22A2_uc003qte.1_Silent_p.A189A|SLC22A2_uc003qth.1_Silent_p.A189A	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	189	Helical; (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)														---	---	---	---	capture		Silent	SNP	160671686	160671686	14947	6	T	A	A	55	55	SLC22A2	A	4	4
RPS6KA2	6196	broad.mit.edu	37	6	166952269	166952269	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:166952269C>G	uc003qvb.1	-	2	322	c.103G>C	c.(103-105)GAA>CAA	p.E35Q	RPS6KA2_uc011ego.1_5'UTR|RPS6KA2_uc010kkl.1_5'UTR|RPS6KA2_uc003qvc.1_Missense_Mutation_p.E43Q|RPS6KA2_uc003qvd.1_Missense_Mutation_p.E60Q	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	35					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)														---	---	---	---	capture		Missense_Mutation	SNP	166952269	166952269	14131	6	C	G	G	32	32	RPS6KA2	G	3	3
TCP10	6953	broad.mit.edu	37	6	167791471	167791471	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:167791471C>A	uc003qvv.1	-	4	601	c.389G>T	c.(388-390)TGG>TTG	p.W130L	TCP10_uc003qvu.2_Missense_Mutation_p.W130L|TCP10_uc003qvw.2_Missense_Mutation_p.W106L	NM_004610	NP_004601	Q12799	TCP10_HUMAN	t-complex 10	157						cytosol				breast(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)														---	---	---	---	capture		Missense_Mutation	SNP	167791471	167791471	16236	6	C	A	A	21	21	TCP10	A	2	2
MLLT4	4301	broad.mit.edu	37	6	168352705	168352705	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168352705C>G	uc003qwd.2	+	29	4789	c.4647C>G	c.(4645-4647)AGC>AGG	p.S1549R	MLLT4_uc003qwb.1_Missense_Mutation_p.S1534R|MLLT4_uc003qwc.1_Missense_Mutation_p.S1550R|MLLT4_uc003qwg.1_Missense_Mutation_p.S859R	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1550	Potential.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)				T	MLL	AL								---	---	---	---	capture		Missense_Mutation	SNP	168352705	168352705	10019	6	C	G	G	27	27	MLLT4	G	3	3
DNAH11	8701	broad.mit.edu	37	7	21630856	21630856	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21630856G>T	uc003svc.2	+	14	2359	c.2328G>T	c.(2326-2328)ACG>ACT	p.T776T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	776	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---	capture		Silent	SNP	21630856	21630856	4781	7	G	T	T	38	38	DNAH11	T	1	1
DNAH11	8701	broad.mit.edu	37	7	21775367	21775367	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21775367C>A	uc003svc.2	+	47	7602	c.7571C>A	c.(7570-7572)ACA>AAA	p.T2524K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2524	AAA 3 (By similarity).|ATP (Potential).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	21775367	21775367	4781	7	C	A	A	17	17	DNAH11	A	2	2
FAM188B	84182	broad.mit.edu	37	7	30915170	30915170	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30915170G>T	uc003tbt.2	+	15	1947	c.1870G>T	c.(1870-1872)GAG>TAG	p.E624*	FAM188B_uc010kwe.2_Nonsense_Mutation_p.E595*|AQP1_uc011kac.1_5'UTR|FAM188B_uc003tbu.2_Nonsense_Mutation_p.E144*	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	624											0																		---	---	---	---	capture		Nonsense_Mutation	SNP	30915170	30915170	5725	7	G	T	T	45	45	FAM188B	T	5	2
RALA	5898	broad.mit.edu	37	7	39730117	39730117	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:39730117G>A	uc003thd.2	+	3	551	c.251G>A	c.(250-252)CGA>CAA	p.R84Q		NM_005402	NP_005393	P11233	RALA_HUMAN	ras related v-ral simian leukemia viral oncogene	84					actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			lung(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	39730117	39730117	13470	7	G	A	A	37	37	RALA	A	1	1
C7orf10	79783	broad.mit.edu	37	7	40899991	40899991	+	Silent	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:40899991C>T	uc003thn.1	+	14	1275	c.1230C>T	c.(1228-1230)CAC>CAT	p.H410H	C7orf10_uc003thm.1_Silent_p.H406H|C7orf10_uc003tho.1_Silent_p.H362H|C7orf10_uc003thp.1_RNA	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN	dermal papilla derived protein 13	417							transferase activity			ovary(2)	2																		---	---	---	---	capture		Silent	SNP	40899991	40899991	2483	7	C	T	T	17	17	C7orf10	T	2	2
GCK	2645	broad.mit.edu	37	7	44189600	44189600	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44189600C>A	uc003tkl.2	-	5	1017	c.547G>T	c.(547-549)GGG>TGG	p.G183W	GCK_uc003tkj.1_Missense_Mutation_p.G182W|GCK_uc003tkk.1_Missense_Mutation_p.G184W	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	183					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			skin(3)|lung(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	44189600	44189600	6559	7	C	A	A	22	22	GCK	A	2	2
SRCRB4D	136853	broad.mit.edu	37	7	76033672	76033672	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76033672G>C	uc003ufb.2	-	2	433	c.85C>G	c.(85-87)CCT>GCT	p.P29A	ZP3_uc003ufc.3_Intron	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain	29						extracellular region|membrane	scavenger receptor activity			pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	76033672	76033672	15651	7	G	C	C	43	43	SRCRB4D	C	3	3
HGF	3082	broad.mit.edu	37	7	81331913	81331913	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:81331913T>A	uc003uhl.2	-	18	2336	c.2171A>T	c.(2170-2172)AAG>ATG	p.K724M	HGF_uc003uhm.2_Missense_Mutation_p.K719M	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	724					epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	81331913	81331913	7369	7	T	A	A	56	56	HGF	A	4	4
PCLO	27445	broad.mit.edu	37	7	82784340	82784340	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82784340G>T	uc003uhx.2	-	2	1906	c.1617C>A	c.(1615-1617)CCC>CCA	p.P539P	PCLO_uc003uhv.2_Silent_p.P539P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	485	Gln-rich.|Pro-rich.|10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---	capture		Silent	SNP	82784340	82784340	12003	7	G	T	T	35	35	PCLO	T	2	2
C7orf63	79846	broad.mit.edu	37	7	89874839	89874839	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:89874839C>A	uc010lep.2	+	1	352	c.101C>A	c.(100-102)ACG>AAG	p.T34K	C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.1_Missense_Mutation_p.T34K|C7orf63_uc010leo.2_Missense_Mutation_p.T34K	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	34							binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	89874839	89874839	2516	7	C	A	A	19	19	C7orf63	A	1	1
CDK14	5218	broad.mit.edu	37	7	90419888	90419888	+	Silent	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90419888G>A	uc003uky.2	+	5	687	c.465G>A	c.(463-465)AAG>AAA	p.K155K	CDK14_uc003ukt.1_Silent_p.K109K|CDK14_uc003ukv.1_Silent_p.K109K|CDK14_uc003uku.1_Silent_p.K109K|CDK14_uc003ukx.1_RNA|CDK14_uc003ukz.1_Silent_p.K137K|CDK14_uc010les.1_Silent_p.K109K|CDK14_uc011khl.1_Silent_p.R26R	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	155	Protein kinase.				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		Silent	SNP	90419888	90419888	3259	7	G	A	A	43	43	CDK14	A	2	2
HEPACAM2	253012	broad.mit.edu	37	7	92848755	92848755	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92848755G>T	uc003umm.2	-	2	112	c.89C>A	c.(88-90)TCG>TAG	p.S30*	HEPACAM2_uc003uml.2_Nonsense_Mutation_p.S18*|HEPACAM2_uc010lff.2_Nonsense_Mutation_p.S18*|HEPACAM2_uc011khy.1_Nonsense_Mutation_p.S53*	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	30						integral to membrane				ovary(3)|breast(1)|kidney(1)	5																		---	---	---	---	capture		Nonsense_Mutation	SNP	92848755	92848755	7336	7	G	T	T	37	37	HEPACAM2	T	5	1
COL1A2	1278	broad.mit.edu	37	7	94058503	94058503	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:94058503G>T	uc003ung.1	+	51	4186	c.3715G>T	c.(3715-3717)GAA>TAA	p.E1239*	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1239	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)										HNSCC(75;0.22)			---	---	---	---	capture		Nonsense_Mutation	SNP	94058503	94058503	3816	7	G	T	T	45	45	COL1A2	T	5	2
TRRAP	8295	broad.mit.edu	37	7	98601940	98601940	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98601940C>A	uc003upp.2	+	67	10604	c.10395C>A	c.(10393-10395)TGC>TGA	p.C3465*	TRRAP_uc011kis.1_Nonsense_Mutation_p.C3436*|TRRAP_uc003upr.2_Nonsense_Mutation_p.C3171*	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3465					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---	capture		Nonsense_Mutation	SNP	98601940	98601940	17152	7	C	A	A	26	26	TRRAP	A	5	2
C7orf51	222950	broad.mit.edu	37	7	100086350	100086350	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100086350C>A	uc003uvd.1	+	4	1165	c.1006C>A	c.(1006-1008)CCA>ACA	p.P336T	C7orf51_uc003uve.1_Missense_Mutation_p.P118T	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	336	Pro-rich.									skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---	capture		Missense_Mutation	SNP	100086350	100086350	2507	7	C	A	A	30	30	C7orf51	A	2	2
ACHE	43	broad.mit.edu	37	7	100490928	100490928	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100490928G>C	uc003uxd.2	-	1	1082	c.926C>G	c.(925-927)GCG>GGG	p.A309G	ACHE_uc003uxe.2_Missense_Mutation_p.A309G|ACHE_uc003uxf.2_Missense_Mutation_p.A309G|ACHE_uc003uxg.2_Missense_Mutation_p.A309G|ACHE_uc003uxh.2_Missense_Mutation_p.A309G|ACHE_uc003uxi.2_Missense_Mutation_p.A309G|ACHE_uc003uxj.1_Missense_Mutation_p.A428G	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	309					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)													---	---	---	---	capture		Missense_Mutation	SNP	100490928	100490928	142	7	G	C	C	38	38	ACHE	C	3	3
PSMC2	5701	broad.mit.edu	37	7	103004624	103004624	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103004624C>A	uc003vbs.2	+	8	696	c.626C>A	c.(625-627)CCC>CAC	p.P209H	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.P72H	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	209					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	103004624	103004624	13139	7	C	A	A	22	22	PSMC2	A	2	2
SLC13A1	6561	broad.mit.edu	37	7	122774567	122774567	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122774567G>T	uc003vkm.2	-	8	854	c.829C>A	c.(829-831)CGT>AGT	p.R277S	SLC13A1_uc010lks.2_Missense_Mutation_p.R153S	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	277						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)													---	---	---	---	capture		Missense_Mutation	SNP	122774567	122774567	14886	7	G	T	T	37	37	SLC13A1	T	1	1
PLXNA4	91584	broad.mit.edu	37	7	131817907	131817907	+	Silent	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131817907G>A	uc003vra.3	-	31	5719	c.5490C>T	c.(5488-5490)AAC>AAT	p.N1830N	PLXNA4_uc003vqz.3_Silent_p.N115N	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1830	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---	capture		Silent	SNP	131817907	131817907	12548	7	G	A	A	40	40	PLXNA4	A	1	1
AKR1B10	57016	broad.mit.edu	37	7	134217760	134217760	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:134217760G>T	uc003vrr.2	+	4	676	c.356G>T	c.(355-357)GGG>GTG	p.G119V		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	119					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			skin(5)	5																		---	---	---	---	capture		Missense_Mutation	SNP	134217760	134217760	470	7	G	T	T	43	43	AKR1B10	T	2	2
KIAA1549	57670	broad.mit.edu	37	7	138591710	138591710	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138591710C>A	uc011kql.1	-	6	3464	c.3415G>T	c.(3415-3417)GAG>TAG	p.E1139*	KIAA1549_uc003vuk.3_Nonsense_Mutation_p.E1089*|KIAA1549_uc011kqj.1_Nonsense_Mutation_p.E1139*	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1139						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230								O	BRAF	pilocytic astrocytoma								---	---	---	---	capture		Nonsense_Mutation	SNP	138591710	138591710	8553	7	C	A	A	30	30	KIAA1549	A	5	2
MKRN1	23608	broad.mit.edu	37	7	140158881	140158881	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140158881C>A	uc003vvt.2	-	4	922	c.697G>T	c.(697-699)GGA>TGA	p.G233*	MKRN1_uc003vvs.2_Nonsense_Mutation_p.G169*|MKRN1_uc011krd.1_Intron|MKRN1_uc003vvv.3_Nonsense_Mutation_p.G233*|MKRN1_uc003vvu.3_Nonsense_Mutation_p.G169*	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1 isoform 1	233	C3H1-type 3.						ligase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.00956)																	---	---	---	---	capture		Nonsense_Mutation	SNP	140158881	140158881	9996	7	C	A	A	23	23	MKRN1	A	5	1
MGAM	8972	broad.mit.edu	37	7	141722156	141722156	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141722156G>T	uc003vwy.2	+	7	853	c.799G>T	c.(799-801)GGA>TGA	p.G267*		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	267	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)													---	---	---	---	capture		Nonsense_Mutation	SNP	141722156	141722156	9931	7	G	T	T	43	43	MGAM	T	5	2
EPHB6	2051	broad.mit.edu	37	7	142562440	142562440	+	Silent	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142562440A>T	uc011kst.1	+	7	1669	c.882A>T	c.(880-882)GTA>GTT	p.V294V	EPHB6_uc011ksu.1_Silent_p.V294V|EPHB6_uc003wbs.2_Silent_p.V2V|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Silent_p.V2V|EPHB6_uc003wbv.2_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	294	Extracellular (Potential).|Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)																	---	---	---	---	capture		Silent	SNP	142562440	142562440	5371	7	A	T	T	15	15	EPHB6	T	4	4
TRPV5	56302	broad.mit.edu	37	7	142609900	142609900	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142609900G>T	uc003wby.1	-	13	1800	c.1536C>A	c.(1534-1536)TTC>TTA	p.F512L		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	512	Helical; (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)																	---	---	---	---	capture		Missense_Mutation	SNP	142609900	142609900	17150	7	G	T	T	41	41	TRPV5	T	2	2
OR2A7	401427	broad.mit.edu	37	7	143956017	143956017	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143956017T>A	uc011kuc.1	-	1	705	c.705A>T	c.(703-705)AAA>AAT	p.K235N	OR2A9P_uc003wec.1_Intron|uc003wed.2_5'Flank	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.14)																	---	---	---	---	capture		Missense_Mutation	SNP	143956017	143956017	11388	7	T	A	A	56	56	OR2A7	A	4	4
ZNF746	155061	broad.mit.edu	37	7	149191124	149191124	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149191124T>C	uc003wfw.2	-	3	633	c.362A>G	c.(361-363)TAC>TGC	p.Y121C	ZNF746_uc010lpi.2_Missense_Mutation_p.Y121C	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	121	KRAB.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)															---	---	---	---	capture		Missense_Mutation	SNP	149191124	149191124	18727	7	T	C	C	57	57	ZNF746	C	4	4
SSPO	23145	broad.mit.edu	37	7	149478003	149478003	+	Silent	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149478003C>T	uc010lpk.2	+	13	1774	c.1774C>T	c.(1774-1776)CTG>TTG	p.L592L	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	592	VWFD 2.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---	capture		Silent	SNP	149478003	149478003	15705	7	C	T	T	24	24	SSPO	T	2	2
GBX1	2636	broad.mit.edu	37	7	150846205	150846205	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150846205T>C	uc011kvg.1	-	2	795	c.563A>G	c.(562-564)GAT>GGT	p.D188G		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	gastrulation brain homeo box 1	188						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---	capture		Missense_Mutation	SNP	150846205	150846205	6546	7	T	C	C	50	50	GBX1	C	4	4
ASB10	136371	broad.mit.edu	37	7	150883938	150883938	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150883938G>T	uc003wjm.1	-	1	541	c.415C>A	c.(415-417)CGA>AGA	p.R139R	ASB10_uc003wjl.1_Silent_p.R139R|ASB10_uc003wjn.1_Intron	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	94					intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---	capture		Silent	SNP	150883938	150883938	1032	7	G	T	T	38	38	ASB10	T	1	1
ASB10	136371	broad.mit.edu	37	7	150884185	150884185	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150884185C>G	uc003wjm.1	-	1	294	c.168G>C	c.(166-168)AAG>AAC	p.K56N	ASB10_uc003wjl.1_Missense_Mutation_p.K56N|ASB10_uc003wjn.1_Intron	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	11					intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---	capture		Missense_Mutation	SNP	150884185	150884185	1032	7	C	G	G	24	24	ASB10	G	3	3
GALNT11	63917	broad.mit.edu	37	7	151791434	151791434	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151791434C>T	uc010lqg.1	+	2	352	c.122C>T	c.(121-123)CCC>CTC	p.P41L	GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Missense_Mutation_p.P41L|GALNT11_uc003wkv.1_Missense_Mutation_p.P41L|GALNT11_uc011kvn.1_RNA	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	41	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)														---	---	---	---	capture		Missense_Mutation	SNP	151791434	151791434	6473	7	C	T	T	22	22	GALNT11	T	2	2
MLL3	58508	broad.mit.edu	37	7	151851428	151851428	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151851428C>A	uc003wla.2	-	47	12282	c.12063G>T	c.(12061-12063)CTG>CTT	p.L4021L	MLL3_uc003wkz.2_Silent_p.L3139L|MLL3_uc003wkx.2_Silent_p.L179L|MLL3_uc003wky.2_Silent_p.L1585L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4021					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---	capture		Silent	SNP	151851428	151851428	10012	7	C	A	A	17	17	MLL3	A	2	2
MLL3	58508	broad.mit.edu	37	7	151962250	151962250	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151962250G>A	uc003wla.2	-	8	1276	c.1057C>T	c.(1057-1059)CTC>TTC	p.L353F		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	353	PHD-type 1.|RING-type.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---	capture		Missense_Mutation	SNP	151962250	151962250	10012	7	G	A	A	35	35	MLL3	A	2	2
ARHGEF10	9639	broad.mit.edu	37	8	1851599	1851599	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1851599C>A	uc003wpr.2	+	16	1981	c.1803C>A	c.(1801-1803)AAC>AAA	p.N601K	ARHGEF10_uc003wpq.1_Missense_Mutation_p.N625K|ARHGEF10_uc003wps.2_Missense_Mutation_p.N563K|ARHGEF10_uc003wpt.2_Missense_Mutation_p.N477K|ARHGEF10_uc003wpv.2_Missense_Mutation_p.N334K|ARHGEF10_uc010lre.2_Missense_Mutation_p.N281K	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	626					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)														---	---	---	---	capture		Missense_Mutation	SNP	1851599	1851599	908	8	C	A	A	19	19	ARHGEF10	A	1	1
CSMD1	64478	broad.mit.edu	37	8	2796240	2796240	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2796240C>T	uc011kwk.1	-	70	10955	c.10565G>A	c.(10564-10566)GGC>GAC	p.G3522D	CSMD1_uc011kwj.1_Missense_Mutation_p.G2836D|CSMD1_uc010lrg.2_Missense_Mutation_p.G1413D	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3522	Cytoplasmic (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	2796240	2796240	4085	8	C	T	T	26	26	CSMD1	T	2	2
CSMD1	64478	broad.mit.edu	37	8	2965277	2965277	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2965277C>A	uc011kwk.1	-	45	7191	c.6801G>T	c.(6799-6801)CAG>CAT	p.Q2267H	CSMD1_uc011kwj.1_Missense_Mutation_p.Q1659H|CSMD1_uc010lrg.2_Missense_Mutation_p.Q335H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2267	Extracellular (Potential).|Sushi 13.					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	2965277	2965277	4085	8	C	A	A	24	24	CSMD1	A	2	2
BLK	640	broad.mit.edu	37	8	11403590	11403590	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11403590G>T	uc003wty.2	+	3	734	c.153G>T	c.(151-153)CCG>CCT	p.P51P	BLK_uc003wtz.2_5'UTR	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	51					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)														---	---	---	---	capture		Silent	SNP	11403590	11403590	1469	8	G	T	T	38	38	BLK	T	1	1
PCM1	5108	broad.mit.edu	37	8	17822100	17822100	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17822100C>G	uc003wyi.3	+	18	3100	c.2678C>G	c.(2677-2679)TCT>TGT	p.S893C	PCM1_uc011kyh.1_Missense_Mutation_p.S893C|PCM1_uc003wyj.3_Missense_Mutation_p.S894C	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	893					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)				T	RET|JAK2	papillary thyroid|CML|MPD								---	---	---	---	capture		Missense_Mutation	SNP	17822100	17822100	12004	8	C	G	G	32	32	PCM1	G	3	3
CSGALNACT1	55790	broad.mit.edu	37	8	19363180	19363180	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:19363180C>A	uc011kyn.1	-	4	1230	c.166G>T	c.(166-168)GGG>TGG	p.G56W	CSGALNACT1_uc011kyo.1_Missense_Mutation_p.G56W|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.G55W|CSGALNACT1_uc003wzh.2_RNA	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	56	Lumenal (Potential).				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)														---	---	---	---	capture		Missense_Mutation	SNP	19363180	19363180	4079	8	C	A	A	22	22	CSGALNACT1	A	2	2
INTS10	55174	broad.mit.edu	37	8	19700393	19700393	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:19700393G>T	uc003wzj.2	+	14	1805	c.1674G>T	c.(1672-1674)AAG>AAT	p.K558N		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	558					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)														---	---	---	---	capture		Missense_Mutation	SNP	19700393	19700393	8077	8	G	T	T	35	35	INTS10	T	2	2
DOCK5	80005	broad.mit.edu	37	8	25258515	25258515	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25258515A>T	uc003xeg.2	+	47	4996	c.4859A>T	c.(4858-4860)GAG>GTG	p.E1620V	PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1620	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)														---	---	---	---	capture		Missense_Mutation	SNP	25258515	25258515	4874	8	A	T	T	11	11	DOCK5	T	4	4
KIF13B	23303	broad.mit.edu	37	8	29006227	29006227	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:29006227G>T	uc003xhh.3	-	16	1739	c.1680C>A	c.(1678-1680)CCC>CCA	p.P560P	KIF13B_uc003xhj.2_Silent_p.P457P|KIF13B_uc010lvf.1_Silent_p.P496P	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	560					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)														---	---	---	---	capture		Silent	SNP	29006227	29006227	8586	8	G	T	T	35	35	KIF13B	T	2	2
TEX15	56154	broad.mit.edu	37	8	30700808	30700808	+	Nonsense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30700808G>C	uc003xil.2	-	1	5726	c.5726C>G	c.(5725-5727)TCA>TGA	p.S1909*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1909										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---	capture		Nonsense_Mutation	SNP	30700808	30700808	16306	8	G	C	C	45	45	TEX15	C	5	3
CHD7	55636	broad.mit.edu	37	8	61693855	61693855	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61693855G>T	uc003xue.2	+	3	2439	c.1962G>T	c.(1960-1962)AAG>AAT	p.K654N		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	654	Lys-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)															---	---	---	---	capture		Missense_Mutation	SNP	61693855	61693855	3464	8	G	T	T	35	35	CHD7	T	2	2
C8orf34	116328	broad.mit.edu	37	8	69688635	69688635	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69688635G>T	uc010lyz.2	+	11	1197	c.1148G>T	c.(1147-1149)GGA>GTA	p.G383V	C8orf34_uc003xyb.2_Missense_Mutation_p.G358V	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	383					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)															---	---	---	---	capture		Missense_Mutation	SNP	69688635	69688635	2532	8	G	T	T	41	41	C8orf34	T	2	2
ZFHX4	79776	broad.mit.edu	37	8	77765818	77765818	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77765818G>C	uc003yav.2	+	10	6913	c.6526G>C	c.(6526-6528)GAT>CAT	p.D2176H	ZFHX4_uc003yau.1_Missense_Mutation_p.D2221H|ZFHX4_uc003yaw.1_Missense_Mutation_p.D2176H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2176						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	77765818	77765818	18223	8	G	C	C	45	45	ZFHX4	C	3	3
ZNF704	619279	broad.mit.edu	37	8	81555340	81555340	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:81555340C>A	uc003yby.1	-	8	1289	c.1057G>T	c.(1057-1059)GGC>TGC	p.G353C		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	353						intracellular	zinc ion binding				0	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)															---	---	---	---	capture		Missense_Mutation	SNP	81555340	81555340	18702	8	C	A	A	22	22	ZNF704	A	2	2
WWP1	11059	broad.mit.edu	37	8	87423938	87423938	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87423938C>G	uc003ydt.2	+	9	1176	c.896C>G	c.(895-897)ACC>AGC	p.T299S	WWP1_uc010mai.2_Missense_Mutation_p.T75S	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	299					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	87423938	87423938	17989	8	C	G	G	18	18	WWP1	G	3	3
DCAF4L2	138009	broad.mit.edu	37	8	88885776	88885776	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:88885776G>A	uc003ydz.2	-	1	521	c.424C>T	c.(424-426)CTT>TTT	p.L142F		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	142										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	88885776	88885776	4443	8	G	A	A	35	35	DCAF4L2	A	2	2
SLC26A7	115111	broad.mit.edu	37	8	92378817	92378817	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:92378817C>A	uc003yex.2	+	15	1776	c.1498C>A	c.(1498-1500)CAG>AAG	p.Q500K	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.Q500K|SLC26A7_uc003yfa.2_Missense_Mutation_p.Q500K	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	500	STAS.|Cytoplasmic (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)															---	---	---	---	capture		Missense_Mutation	SNP	92378817	92378817	15019	8	C	A	A	25	25	SLC26A7	A	2	2
UBR5	51366	broad.mit.edu	37	8	103284843	103284843	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103284843T>C	uc003ykr.1	-	48	6920	c.6887A>G	c.(6886-6888)TAT>TGT	p.Y2296C	UBR5_uc003yks.1_Missense_Mutation_p.Y2296C	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2296					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)															---	---	---	---	capture		Missense_Mutation	SNP	103284843	103284843	17463	8	T	C	C	49	49	UBR5	C	4	4
PKHD1L1	93035	broad.mit.edu	37	8	110457753	110457753	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110457753C>A	uc003yne.2	+	38	5759	c.5655C>A	c.(5653-5655)CCC>CCA	p.P1885P		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1885	Extracellular (Potential).|IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)												HNSCC(38;0.096)			---	---	---	---	capture		Silent	SNP	110457753	110457753	12397	8	C	A	A	23	23	PKHD1L1	A	1	1
CSMD3	114788	broad.mit.edu	37	8	113569084	113569084	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113569084C>A	uc003ynu.2	-	25	4301	c.4142G>T	c.(4141-4143)TGC>TTC	p.C1381F	CSMD3_uc003yns.2_Missense_Mutation_p.C653F|CSMD3_uc003ynt.2_Missense_Mutation_p.C1341F|CSMD3_uc011lhx.1_Missense_Mutation_p.C1277F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1381	Extracellular (Potential).|Sushi 7.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---	capture		Missense_Mutation	SNP	113569084	113569084	4087	8	C	A	A	25	25	CSMD3	A	2	2
CSMD3	114788	broad.mit.edu	37	8	113697808	113697808	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113697808G>C	uc003ynu.2	-	15	2468	c.2309C>G	c.(2308-2310)TCC>TGC	p.S770C	CSMD3_uc003yns.2_Missense_Mutation_p.S42C|CSMD3_uc003ynt.2_Missense_Mutation_p.S730C|CSMD3_uc011lhx.1_Missense_Mutation_p.S666C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	770	Extracellular (Potential).|CUB 4.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---	capture		Missense_Mutation	SNP	113697808	113697808	4087	8	G	C	C	41	41	CSMD3	C	3	3
CSMD3	114788	broad.mit.edu	37	8	114290852	114290852	+	Silent	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:114290852A>G	uc003ynu.2	-	3	642	c.483T>C	c.(481-483)GTT>GTC	p.V161V	CSMD3_uc003ynt.2_Silent_p.V121V|CSMD3_uc011lhx.1_Silent_p.V161V|CSMD3_uc010mcx.1_Silent_p.V161V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	161	Extracellular (Potential).|CUB 1.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---	capture		Silent	SNP	114290852	114290852	4087	8	A	G	G	13	13	CSMD3	G	4	4
PHF20L1	51105	broad.mit.edu	37	8	133856422	133856422	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133856422G>A	uc003ytt.2	+	20	3095	c.2770G>A	c.(2770-2772)GTA>ATA	p.V924I	PHF20L1_uc011lja.1_Missense_Mutation_p.V898I	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	924							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)															---	---	---	---	capture		Missense_Mutation	SNP	133856422	133856422	12255	8	G	A	A	36	36	PHF20L1	A	2	2
WISP1	8840	broad.mit.edu	37	8	134239682	134239682	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134239682A>T	uc003yub.2	+	5	909	c.833A>T	c.(832-834)CAG>CTG	p.Q278L	WISP1_uc003yuc.2_Missense_Mutation_p.Q191L|WISP1_uc010meb.2_Missense_Mutation_p.Q106L|WISP1_uc010mec.2_Silent_p.P126P|WISP1_uc010med.2_Missense_Mutation_p.Q33L|WISP1_uc003yud.2_RNA	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	278	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)															---	---	---	---	capture		Missense_Mutation	SNP	134239682	134239682	17946	8	A	T	T	7	7	WISP1	T	4	4
FAM135B	51059	broad.mit.edu	37	8	139180280	139180280	+	Silent	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139180280G>A	uc003yuy.2	-	12	1287	c.1116C>T	c.(1114-1116)CAC>CAT	p.H372H	FAM135B_uc003yux.2_Silent_p.H273H|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	372										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	139180280	139180280	5646	8	G	A	A	48	48	FAM135B	A	2	2
FAM135B	51059	broad.mit.edu	37	8	139263259	139263259	+	Splice_Site	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139263259T>A	uc003yuy.2	-	6	540	c.369_splice	c.e6-1	p.Q123_splice	FAM135B_uc003yux.2_Splice_Site_p.Q24_splice|FAM135B_uc003yuz.2_Splice_Site	NM_015912	NP_056996			hypothetical protein LOC51059											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		Splice_Site	SNP	139263259	139263259	5646	8	T	A	A	53	53	FAM135B	A	5	4
HEATR7A	727957	broad.mit.edu	37	8	145278049	145278049	+	Silent	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145278049C>T	uc003zbk.3	+	14	1491	c.1254C>T	c.(1252-1254)GCC>GCT	p.A418A	HEATR7A_uc011lla.1_Silent_p.A418A|HEATR7A_uc010mft.2_Silent_p.A418A	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	HEAT repeat containing 7A isoform 1	418	HEAT 4.						binding				0																		---	---	---	---	capture		Silent	SNP	145278049	145278049	7317	8	C	T	T	22	22	HEATR7A	T	2	2
GLIS3	169792	broad.mit.edu	37	9	3898798	3898798	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:3898798G>T	uc003zhw.1	-	6	1750	c.1556C>A	c.(1555-1557)ACA>AAA	p.T519K	GLIS3_uc003zhx.1_Missense_Mutation_p.T674K|GLIS3_uc010mhf.1_Missense_Mutation_p.T68K|GLIS3_uc003zhv.1_RNA|GLIS3_uc003zhy.1_Missense_Mutation_p.T452K|GLIS3_uc003zhz.1_Missense_Mutation_p.T452K|C9orf70_uc003zia.2_RNA	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	519					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)														---	---	---	---	capture		Missense_Mutation	SNP	3898798	3898798	6715	9	G	T	T	48	48	GLIS3	T	2	2
TTC39B	158219	broad.mit.edu	37	9	15192619	15192619	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:15192619C>A	uc003zlr.1	-	9	822	c.701G>T	c.(700-702)GGT>GTT	p.G234V	TTC39B_uc003zlq.1_Missense_Mutation_p.G203V|TTC39B_uc011lmp.1_Missense_Mutation_p.G135V|TTC39B_uc010mie.1_Missense_Mutation_p.G232V|TTC39B_uc011lmq.1_Missense_Mutation_p.G234V|TTC39B_uc011lmr.1_Missense_Mutation_p.G165V|TTC39B_uc010mif.1_Missense_Mutation_p.G234V|TTC39B_uc003zls.1_Missense_Mutation_p.G135V|TTC39B_uc010mig.1_Missense_Mutation_p.G203V|TTC39B_uc011lms.1_RNA	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	234							binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	15192619	15192619	17263	9	C	A	A	18	18	TTC39B	A	2	2
CDKN2A	1029	broad.mit.edu	37	9	21974677	21974677	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21974677C>G	uc003zpk.2	-	1	362	c.150G>C	c.(148-150)CAG>CAC	p.Q50H	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.Q50H|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	50	ANK 2.		Q -> R (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(25)|p.Q50*(5)|p.Q50R(1)|p.V28_V51del(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)			17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	---	---	---	capture		Missense_Mutation	SNP	21974677	21974677	3290	9	C	G	G	24	24	CDKN2A	G	3	3
C9orf72	203228	broad.mit.edu	37	9	27567113	27567113	+	Silent	SNP	C	T	T	rs138028443		TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27567113C>T	uc003zqq.2	-	2	103	c.6G>A	c.(4-6)TCG>TCA	p.S2S	C9orf72_uc003zqr.1_Silent_p.S2S	NM_018325	NP_060795	Q96LT7	CI072_HUMAN	hypothetical protein LOC203228 isoform a	2										ovary(3)|central_nervous_system(1)	4		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)														---	---	---	---	capture		Silent	SNP	27567113	27567113	2611	9	C	T	T	31	31	C9orf72	T	1	1
ARID3C	138715	broad.mit.edu	37	9	34623546	34623546	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34623546G>T	uc011lon.1	-	4	741	c.741C>A	c.(739-741)GAC>GAA	p.D247E		NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT- like)	247	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)														---	---	---	---	capture		Missense_Mutation	SNP	34623546	34623546	933	9	G	T	T	44	44	ARID3C	T	2	2
RECK	8434	broad.mit.edu	37	9	36100327	36100327	+	Splice_Site	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:36100327G>T	uc003zyv.2	+	11	1172	c.1086_splice	c.e11-1	p.R362_splice	RECK_uc003zyw.2_Splice_Site_p.R234_splice|RECK_uc003zyx.2_Splice_Site	NM_021111	NP_066934			RECK protein precursor							anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)															---	---	---	---	capture		Splice_Site	SNP	36100327	36100327	13669	9	G	T	T	35	35	RECK	T	5	2
CCIN	881	broad.mit.edu	37	9	36170237	36170237	+	Silent	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:36170237C>A	uc003zzb.3	+	1	849	c.738C>A	c.(736-738)ACC>ACA	p.T246T		NM_005893	NP_005884	Q13939	CALI_HUMAN	calicin	246					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			ovary(1)|skin(1)	2			STAD - Stomach adenocarcinoma(86;0.228)															---	---	---	---	capture		Silent	SNP	36170237	36170237	3003	9	C	A	A	24	24	CCIN	A	2	2
TRPM3	80036	broad.mit.edu	37	9	73151786	73151786	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:73151786A>G	uc004aid.2	-	25	4451	c.4207T>C	c.(4207-4209)TAT>CAT	p.Y1403H	TRPM3_uc004ahu.2_Missense_Mutation_p.Y1245H|TRPM3_uc004ahv.2_Missense_Mutation_p.Y1205H|TRPM3_uc004ahw.2_Missense_Mutation_p.Y1275H|TRPM3_uc004ahx.2_Missense_Mutation_p.Y1262H|TRPM3_uc004ahy.2_Missense_Mutation_p.Y1265H|TRPM3_uc004ahz.2_Missense_Mutation_p.Y1252H|TRPM3_uc004aia.2_Missense_Mutation_p.Y1250H|TRPM3_uc004aib.2_Missense_Mutation_p.Y1240H|TRPM3_uc004aic.2_Intron	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1428	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9																		---	---	---	---	capture		Missense_Mutation	SNP	73151786	73151786	17138	9	A	G	G	15	15	TRPM3	G	4	4
TRPM6	140803	broad.mit.edu	37	9	77457212	77457212	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77457212G>A	uc004ajl.1	-	4	438	c.200C>T	c.(199-201)TCC>TTC	p.S67F	TRPM6_uc004ajk.1_Missense_Mutation_p.S62F|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.S67F|TRPM6_uc010mpd.1_Missense_Mutation_p.S67F|TRPM6_uc010mpe.1_Missense_Mutation_p.S67F|TRPM6_uc004ajn.1_Missense_Mutation_p.S67F	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	67	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	77457212	77457212	17141	9	G	A	A	41	41	TRPM6	A	2	2
PRUNE2	158471	broad.mit.edu	37	9	79322427	79322427	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79322427G>C	uc010mpk.2	-	8	4887	c.4763C>G	c.(4762-4764)ACC>AGC	p.T1588S		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1588					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	79322427	79322427	13092	9	G	C	C	44	44	PRUNE2	C	3	3
PRUNE2	158471	broad.mit.edu	37	9	79441626	79441626	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79441626C>G	uc010mpk.2	-	5	655	c.531G>C	c.(529-531)ATG>ATC	p.M177I	PRUNE2_uc004akn.2_Missense_Mutation_p.M177I	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	177					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	79441626	79441626	13092	9	C	G	G	29	29	PRUNE2	G	3	3
PRUNE2	158471	broad.mit.edu	37	9	79441638	79441638	+	Silent	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79441638A>G	uc010mpk.2	-	5	643	c.519T>C	c.(517-519)CTT>CTC	p.L173L	PRUNE2_uc004akn.2_Silent_p.L173L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	173					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0																		---	---	---	---	capture		Silent	SNP	79441638	79441638	13092	9	A	G	G	1	1	PRUNE2	G	4	4
PHF2	5253	broad.mit.edu	37	9	96418814	96418814	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:96418814C>G	uc004aub.2	+	9	1231	c.1084C>G	c.(1084-1086)CAG>GAG	p.Q362E	PHF2_uc011lug.1_Missense_Mutation_p.Q245E	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	362					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)														---	---	---	---	capture		Missense_Mutation	SNP	96418814	96418814	12253	9	C	G	G	29	29	PHF2	G	3	3
KIAA1529	57653	broad.mit.edu	37	9	100119949	100119949	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100119949C>A	uc011lut.1	+	37	4627	c.3854C>A	c.(3853-3855)TCT>TAT	p.S1285Y	KIAA1529_uc004axe.1_Missense_Mutation_p.S1117Y|KIAA1529_uc004axg.1_Missense_Mutation_p.S1146Y|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.S302Y	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)																---	---	---	---	capture		Missense_Mutation	SNP	100119949	100119949	8549	9	C	A	A	32	32	KIAA1529	A	2	2
GABBR2	9568	broad.mit.edu	37	9	101056141	101056141	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101056141G>T	uc004ays.2	-	18	2742	c.2586C>A	c.(2584-2586)CCC>CCA	p.P862P		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	862	Cytoplasmic (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)													---	---	---	---	capture		Silent	SNP	101056141	101056141	6407	9	G	T	T	43	43	GABBR2	T	2	2
ANKS6	203286	broad.mit.edu	37	9	101518738	101518738	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101518738T>A	uc004ayu.2	-	12	2311	c.2290A>T	c.(2290-2292)AGT>TGT	p.S764C	ANKS6_uc004ayt.2_Missense_Mutation_p.S463C|ANKS6_uc004ayv.1_Missense_Mutation_p.S227C|ANKS6_uc004ayw.1_Missense_Mutation_p.S347C|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	764	Ser-rich.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)																---	---	---	---	capture		Missense_Mutation	SNP	101518738	101518738	700	9	T	A	A	55	55	ANKS6	A	4	4
CYLC2	1539	broad.mit.edu	37	9	105767117	105767117	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:105767117G>T	uc004bbs.2	+	4	391	c.321G>T	c.(319-321)GTG>GTT	p.V107V		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	107	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)																---	---	---	---	capture		Silent	SNP	105767117	105767117	4307	9	G	T	T	47	47	CYLC2	T	2	2
PALM2-AKAP2	445815	broad.mit.edu	37	9	112918631	112918631	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112918631C>G	uc004bej.3	+	9	3208	c.3028C>G	c.(3028-3030)CCC>GCC	p.P1010A	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.P1010A|AKAP2_uc011lwi.1_Missense_Mutation_p.P868A|AKAP2_uc004bem.2_Missense_Mutation_p.P868A|AKAP2_uc011lwj.1_Missense_Mutation_p.P779A|PALM2-AKAP2_uc004ben.2_Intron	NM_007203	NP_009134	Q9Y2D5	AKAP2_HUMAN	PALM2-AKAP2 protein isoform 1	779							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	112918631	112918631	11826	9	C	G	G	22	22	PALM2-AKAP2	G	3	3
KIAA0368	23392	broad.mit.edu	37	9	114182347	114182347	+	Silent	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114182347G>T	uc004bfe.1	-	17	2043	c.2043C>A	c.(2041-2043)CCC>CCA	p.P681P	KIAA0368_uc010muc.1_Silent_p.P503P	NM_001080398	NP_001073867			KIAA0368 protein												0																		---	---	---	---	capture		Silent	SNP	114182347	114182347	8478	9	G	T	T	35	35	KIAA0368	T	2	2
AKNA	80709	broad.mit.edu	37	9	117103916	117103916	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117103916G>T	uc004biq.3	-	20	4099	c.3964C>A	c.(3964-3966)CCC>ACC	p.P1322T	AKNA_uc004bin.3_Missense_Mutation_p.P569T|AKNA_uc004bio.3_Missense_Mutation_p.P782T|AKNA_uc004bip.3_Missense_Mutation_p.P1241T|AKNA_uc004bir.3_Missense_Mutation_p.P1322T|AKNA_uc004bis.3_Missense_Mutation_p.P1322T|AKNA_uc010mve.2_Missense_Mutation_p.P1203T	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---	capture		Missense_Mutation	SNP	117103916	117103916	466	9	G	T	T	44	44	AKNA	T	2	2
TNC	3371	broad.mit.edu	37	9	117810681	117810681	+	Silent	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117810681C>G	uc004bjj.3	-	16	5072	c.4710G>C	c.(4708-4710)CTG>CTC	p.L1570L	TNC_uc010mvf.2_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1570	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7																		---	---	---	---	capture		Silent	SNP	117810681	117810681	16811	9	C	G	G	21	21	TNC	G	3	3
ASTN2	23245	broad.mit.edu	37	9	120176822	120176822	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:120176822G>T	uc004bjs.1	-	1	496	c.395C>A	c.(394-396)GCG>GAG	p.A132E	ASTN2_uc004bjr.1_Missense_Mutation_p.A132E|ASTN2_uc004bjt.1_Missense_Mutation_p.A132E	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	132	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	120176822	120176822	1084	9	G	T	T	38	38	ASTN2	T	1	1
CDK5RAP2	55755	broad.mit.edu	37	9	123215786	123215786	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123215786C>A	uc004bkf.2	-	21	2922	c.2741G>T	c.(2740-2742)GGG>GTG	p.G914V	CDK5RAP2_uc004bke.2_Missense_Mutation_p.G199V|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.G914V|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.G179V|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.G179V|CDK5RAP2_uc011lya.1_Missense_Mutation_p.G179V|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.2_Missense_Mutation_p.G681V	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	914					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	123215786	123215786	3275	9	C	A	A	22	22	CDK5RAP2	A	2	2
RC3H2	54542	broad.mit.edu	37	9	125613661	125613661	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125613661C>A	uc010mwc.1	-	19	3413	c.3172G>T	c.(3172-3174)GAG>TAG	p.E1058*	uc004bnb.1_5'Flank|RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Nonsense_Mutation_p.E1058*	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	1058						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	125613661	125613661	13636	9	C	A	A	31	31	RC3H2	A	5	1
MAGEB4	4115	broad.mit.edu	37	X	30261064	30261064	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30261064T>C	uc004dcb.2	+	1	896	c.812T>C	c.(811-813)CTG>CCG	p.L271P	MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	271	MAGE.									ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	30261064	30261064	9559	23	T	C	C	55	55	MAGEB4	C	4	4
GK	2710	broad.mit.edu	37	X	30719001	30719001	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30719001A>G	uc004dch.3	+	11	1009	c.830A>G	c.(829-831)CAG>CGG	p.Q277R	GK_uc010ngj.2_Missense_Mutation_p.Q271R|GK_uc004dci.3_Missense_Mutation_p.Q271R|GK_uc011mjz.1_Missense_Mutation_p.Q72R|GK_uc011mka.1_Missense_Mutation_p.Q114R|GK_uc010ngk.2_Missense_Mutation_p.Q66R	NM_203391	NP_976325	P32189	GLPK_HUMAN	glycerol kinase isoform a	277					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	30719001	30719001	6688	23	A	G	G	7	7	GK	G	4	4
FTHL17	53940	broad.mit.edu	37	X	31089888	31089888	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:31089888G>T	uc004dcl.1	-	1	286	c.183C>A	c.(181-183)GAC>GAA	p.D61E		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	61	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	31089888	31089888	6334	23	G	T	T	40	40	FTHL17	T	1	1
CYBB	1536	broad.mit.edu	37	X	37663381	37663381	+	Silent	SNP	T	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37663381T>G	uc004ddr.2	+	9	1210	c.1149T>G	c.(1147-1149)CCT>CCG	p.P383P	CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Silent_p.P351P|CYBB_uc011mkg.1_Silent_p.P116P	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	383	Cytoplasmic (Potential).|FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	37663381	37663381	4298	23	T	G	G	53	53	CYBB	G	4	4
USP9X	8239	broad.mit.edu	37	X	41026799	41026799	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41026799C>T	uc004dfb.2	+	17	3026	c.2393C>T	c.(2392-2394)ACG>ATG	p.T798M	USP9X_uc004dfc.2_Missense_Mutation_p.T798M	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	798					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	41026799	41026799	17654	23	C	T	T	19	19	USP9X	T	1	1
HEPH	9843	broad.mit.edu	37	X	65474970	65474970	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:65474970T>G	uc011moz.1	+	16	2726	c.2666T>G	c.(2665-2667)GTG>GGG	p.V889G	HEPH_uc004dwn.2_Missense_Mutation_p.V889G|HEPH_uc004dwo.2_Missense_Mutation_p.V619G|HEPH_uc010nkr.2_Missense_Mutation_p.V697G|HEPH_uc011mpa.1_Missense_Mutation_p.V889G|HEPH_uc010nks.2_Missense_Mutation_p.V178G	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	886	Extracellular (Potential).|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9																		---	---	---	---	capture		Missense_Mutation	SNP	65474970	65474970	7337	23	T	G	G	59	59	HEPH	G	4	4
SH3BGRL	6451	broad.mit.edu	37	X	80532630	80532630	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:80532630C>A	uc004eef.2	+	2	590	c.193C>A	c.(193-195)CTG>ATG	p.L65M	SH3BGRL_uc011mqs.1_RNA|SH3BGRL_uc010nml.2_RNA|SH3BGRL_uc010nmm.2_Missense_Mutation_p.L102M|SH3BGRL_uc010nmn.2_Missense_Mutation_p.L102M	NM_003022	NP_003013	O75368	SH3L1_HUMAN	SH3 domain binding glutamic acid-rich protein	65	SH3-binding (Potential).					cytoplasm|nucleus	SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		all_lung(315;5.94e-05)																---	---	---	---	capture		Missense_Mutation	SNP	80532630	80532630	14732	23	C	A	A	24	24	SH3BGRL	A	2	2
PCDH11X	27328	broad.mit.edu	37	X	91873599	91873599	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:91873599C>A	uc004efk.1	+	7	4549	c.3704C>A	c.(3703-3705)CCA>CAA	p.P1235Q	PCDH11X_uc004efl.1_Missense_Mutation_p.P1225Q|PCDH11X_uc004efo.1_Missense_Mutation_p.P1198Q|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.P1227Q|PCDH11X_uc004efn.1_Missense_Mutation_p.P1217Q	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1235	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	91873599	91873599	11928	23	C	A	A	21	21	PCDH11X	A	2	2
GPRASP1	9737	broad.mit.edu	37	X	101911570	101911570	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101911570G>T	uc004ejj.3	+	5	3530	c.2729G>T	c.(2728-2730)TGG>TTG	p.W910L	GPRASP1_uc004eji.3_Missense_Mutation_p.W910L|GPRASP1_uc010nod.2_Missense_Mutation_p.W910L	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	910	Glu-rich.|OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	101911570	101911570	6998	23	G	T	T	47	47	GPRASP1	T	2	2
ALG13	79868	broad.mit.edu	37	X	111003210	111003210	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:111003210G>T	uc011msy.1	+	27	3431	c.3397G>T	c.(3397-3399)GTA>TTA	p.V1133L	ALG13_uc011msx.1_Missense_Mutation_p.V950L|ALG13_uc011msz.1_Missense_Mutation_p.V1055L|ALG13_uc011mta.1_Missense_Mutation_p.V950L|ALG13_uc011mtb.1_Missense_Mutation_p.V950L			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	1133					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	111003210	111003210	518	23	G	T	T	48	48	ALG13	T	2	2
ENOX2	10495	broad.mit.edu	37	X	129759346	129759346	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129759346C>A	uc004evw.2	-	16	2193	c.1775G>T	c.(1774-1776)GGA>GTA	p.G592V	ENOX2_uc004evx.2_Missense_Mutation_p.G563V|ENOX2_uc004evy.2_Missense_Mutation_p.G563V|ENOX2_uc004evv.2_Missense_Mutation_p.G417V	NM_182314	NP_872114	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2 isoform b	592				G->V: Loss of activity.	cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	129759346	129759346	5320	23	C	A	A	30	30	ENOX2	A	2	2
MAGEC2	51438	broad.mit.edu	37	X	141291581	141291581	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:141291581C>G	uc004fbu.1	-	3	541	c.193G>C	c.(193-195)GGT>CGT	p.G65R		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	65						cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)														HNSCC(46;0.14)			---	---	---	---	capture		Missense_Mutation	SNP	141291581	141291581	9562	23	C	G	G	21	21	MAGEC2	G	3	3
PLXNA3	55558	broad.mit.edu	37	X	153688953	153688953	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2787-01	TCGA-66-2787-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153688953G>T	uc004flm.2	+	2	603	c.430G>T	c.(430-432)GGG>TGG	p.G144W		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	144	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---	capture		Missense_Mutation	SNP	153688953	153688953	12547	23	G	T	T	43	43	PLXNA3	T	2	2
