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
PRKACA	5566	broad.mit.edu	37	19	14217610	14217611	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14217610_14217611CG>AT	uc002myc.2	-	3	398_399	c.198_199CG>AT	c.(196-201)ACCGGG>ACATGG	p.G67W	PRKACA_uc002myb.2_Missense_Mutation_p.G59W|PRKACA_uc010xnm.1_Missense_Mutation_p.G9W|PRKACA_uc002myd.2_Missense_Mutation_p.G9W	NM_002730	NP_002721	P17612	KAPCA_HUMAN	cAMP-dependent protein kinase catalytic subunit	67	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			lung(1)	1																		---	---	---	---	capture		Missense_Mutation	DNP	14217610	14217611	12940	19	CG	AT	AT	23	23	PRKACA	AT	1	1
TP53	7157	broad.mit.edu	37	17	7578213	7578214	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578213_7578214delAA	uc002gim.2	-	6	829_830	c.635_636delTT	c.(634-636)TTTfs	p.F212fs	TP53_uc002gig.1_Frame_Shift_Del_p.F212fs|TP53_uc002gih.2_Frame_Shift_Del_p.F212fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.F80fs|TP53_uc010cng.1_Frame_Shift_Del_p.F80fs|TP53_uc002gii.1_Frame_Shift_Del_p.F80fs|TP53_uc010cnh.1_Frame_Shift_Del_p.F212fs|TP53_uc010cni.1_Frame_Shift_Del_p.F212fs|TP53_uc002gij.2_Frame_Shift_Del_p.F212fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.F119fs|TP53_uc002gio.2_Frame_Shift_Del_p.F80fs|TP53_uc010vug.1_Frame_Shift_Del_p.F173fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	212	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		F -> S (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F212fs*3(7)|p.0?(7)|p.F212L(3)|p.F212S(2)|p.F212I(2)|p.D208fs*1(1)|p.T211_F212insX(1)|p.R209_R213delRNTFR(1)|p.D207_R213delDDRNTFR(1)|p.T211fs*28(1)|p.T211_S215delTFRHS(1)|p.K164_P219del(1)|p.D207_V216del10(1)|p.F212fs*4(1)|p.F212Y(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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	7578213	7578214	16923	17	AA	-	-	9	9	TP53	-	5	5
NFE2L3	9603	broad.mit.edu	37	7	26192226	26192228	+	In_Frame_Del	DEL	GCC	-	-			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:26192226_26192228delGCC	uc003sxq.2	+	1	380_382	c.108_110delGCC	c.(106-111)CTGCCG>CTG	p.P39del		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	nuclear factor erythroid 2-like 3	39	Leu-rich.				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			skin(3)|ovary(1)	4																		---	---	---	---	capture_indel		In_Frame_Del	DEL	26192226	26192228	10769	7	GCC	-	-	46	46	NFE2L3	-	5	5
UBE2J2	118424	broad.mit.edu	37	1	1203260	1203260	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1203260G>T	uc001adn.2	-	2	423	c.113C>A	c.(112-114)CCT>CAT	p.P38H	UBE2J2_uc001adm.2_5'UTR|UBE2J2_uc001ado.2_Missense_Mutation_p.P38H|UBE2J2_uc001adp.2_Missense_Mutation_p.P38H|UBE2J2_uc001adq.2_5'UTR|UBE2J2_uc001adr.2_Intron|UBE2J2_uc001ads.2_5'UTR	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	38	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)														---	---	---	---	capture		Missense_Mutation	SNP	1203260	1203260	17418	1	G	T	T	35	35	UBE2J2	T	2	2
PER3	8863	broad.mit.edu	37	1	7887817	7887817	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7887817C>T	uc001aoo.2	+	17	2979	c.2804C>T	c.(2803-2805)CCC>CTC	p.P935L	PER3_uc009vmg.1_Missense_Mutation_p.P943L|PER3_uc009vmh.1_Missense_Mutation_p.P936L|PER3_uc001aop.2_Missense_Mutation_p.P943L|PER3_uc010nzw.1_Missense_Mutation_p.P624L	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	935					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Missense_Mutation	SNP	7887817	7887817	12152	1	C	T	T	22	22	PER3	T	2	2
PRAMEF18	391003	broad.mit.edu	37	1	13695881	13695881	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:13695881C>A	uc009vny.1	-	3	1131	c.1084G>T	c.(1084-1086)GGG>TGG	p.G362W		NM_001099850	NP_001093320	Q5VWM3	PRA18_HUMAN	PRAME family member 18	362											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Missense_Mutation	SNP	13695881	13695881	12870	1	C	A	A	21	21	PRAMEF18	A	2	2
CELA2B	51032	broad.mit.edu	37	1	15808768	15808768	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15808768G>T	uc001awl.2	+	4	261	c.236G>T	c.(235-237)GGG>GTG	p.G79V		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	79	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	15808768	15808768	3345	1	G	T	T	43	43	CELA2B	T	2	2
SPEN	23013	broad.mit.edu	37	1	16257846	16257846	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16257846C>A	uc001axk.1	+	11	5315	c.5111C>A	c.(5110-5112)CCA>CAA	p.P1704Q	SPEN_uc010obp.1_Missense_Mutation_p.P1663Q	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1704					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)														---	---	---	---	capture		Missense_Mutation	SNP	16257846	16257846	15550	1	C	A	A	21	21	SPEN	A	2	2
PQLC2	54896	broad.mit.edu	37	1	19644272	19644272	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19644272G>T	uc001bby.2	+	3	453	c.101G>T	c.(100-102)TGG>TTG	p.W34L	PQLC2_uc001bbz.2_Intron|PQLC2_uc001bca.2_Missense_Mutation_p.W34L|PQLC2_uc001bcb.2_Intron|PQLC2_uc001bcc.2_5'UTR	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	34	PQ-loop 1.|Extracellular (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Missense_Mutation	SNP	19644272	19644272	12855	1	G	T	T	47	47	PQLC2	T	2	2
PQLC2	54896	broad.mit.edu	37	1	19651203	19651203	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19651203G>T	uc001bby.2	+	4	593	c.241G>T	c.(241-243)GGA>TGA	p.G81*	PQLC2_uc001bbz.2_Nonsense_Mutation_p.G16*|PQLC2_uc001bca.2_Nonsense_Mutation_p.G81*|PQLC2_uc001bcb.2_5'UTR|PQLC2_uc001bcc.2_5'UTR	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	81	PQ-loop 1.|Helical; (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Nonsense_Mutation	SNP	19651203	19651203	12855	1	G	T	T	39	39	PQLC2	T	5	1
HSPG2	3339	broad.mit.edu	37	1	22154752	22154752	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22154752G>T	uc001bfj.2	-	89	12445	c.12405C>A	c.(12403-12405)TTC>TTA	p.F4135L	HSPG2_uc001bfi.2_Missense_Mutation_p.F152L|HSPG2_uc009vqd.2_Missense_Mutation_p.F4136L	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	4135	EGF-like 3.			F -> I (in Ref. 2; CAA44373).	angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)													---	---	---	---	capture		Missense_Mutation	SNP	22154752	22154752	7730	1	G	T	T	45	45	HSPG2	T	2	2
MYOM3	127294	broad.mit.edu	37	1	24419491	24419491	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24419491G>T	uc001bin.3	-	10	1199	c.1036C>A	c.(1036-1038)CGG>AGG	p.R346R	MYOM3_uc001bim.3_Silent_p.R3R|MYOM3_uc001bio.2_Silent_p.R346R|MYOM3_uc001bip.1_Silent_p.R3R	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	346	Ig-like C2-type 2.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)														---	---	---	---	capture		Silent	SNP	24419491	24419491	10488	1	G	T	T	39	39	MYOM3	T	1	1
YARS	8565	broad.mit.edu	37	1	33245787	33245787	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33245787G>T	uc001bvy.1	-	11	2021	c.1233C>A	c.(1231-1233)CCC>CCA	p.P411P	YARS_uc001bvw.1_Silent_p.P71P|YARS_uc001bvx.1_Silent_p.P62P	NM_003680	NP_003671	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	411	tRNA-binding.				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)													---	---	---	---	capture		Silent	SNP	33245787	33245787	18050	1	G	T	T	47	47	YARS	T	2	2
CSMD2	114784	broad.mit.edu	37	1	34067979	34067979	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34067979T>C	uc001bxn.1	-	44	6735	c.6706A>G	c.(6706-6708)ATC>GTC	p.I2236V	CSMD2_uc001bxm.1_Missense_Mutation_p.I2234V|CSMD2_uc001bxo.1_Missense_Mutation_p.I1107V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2236	Extracellular (Potential).|CUB 13.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)																---	---	---	---	capture		Missense_Mutation	SNP	34067979	34067979	4086	1	T	C	C	51	51	CSMD2	C	4	4
GJB4	127534	broad.mit.edu	37	1	35227351	35227351	+	Missense_Mutation	SNP	G	A	A	rs141637346		TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35227351G>A	uc001bxv.1	+	2	866	c.496G>A	c.(496-498)GTG>ATG	p.V166M	GJB4_uc001bxw.3_Missense_Mutation_p.V166M	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	166	Extracellular (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)																---	---	---	---	capture		Missense_Mutation	SNP	35227351	35227351	6678	1	G	A	A	40	40	GJB4	A	1	1
PTPRF	5792	broad.mit.edu	37	1	44070665	44070665	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44070665C>A	uc001cjr.2	+	17	3469	c.3129C>A	c.(3127-3129)CCC>CCA	p.P1043P	PTPRF_uc001cjs.2_Silent_p.P1034P|PTPRF_uc001cju.2_Silent_p.P421P|PTPRF_uc009vwt.2_Silent_p.P603P|PTPRF_uc001cjv.2_Silent_p.P503P|PTPRF_uc001cjw.2_Silent_p.P269P	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1043	Extracellular (Potential).|Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---	capture		Silent	SNP	44070665	44070665	13258	1	C	A	A	24	24	PTPRF	A	2	2
GLMN	11146	broad.mit.edu	37	1	92756981	92756981	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92756981C>A	uc001dor.2	-	4	394	c.279G>T	c.(277-279)TTG>TTT	p.L93F	GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.L93F	NM_053274	NP_444504	Q92990	GLMN_HUMAN	glomulin	93					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			skin(1)	1		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)										Multiple_Glomus_Tumors_(of_the_Skin)_Familial				---	---	---	---	capture		Missense_Mutation	SNP	92756981	92756981	6716	1	C	A	A	21	21	GLMN	A	2	2
CD101	9398	broad.mit.edu	37	1	117564601	117564601	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117564601C>A	uc010oxb.1	+	7	2482	c.2424C>A	c.(2422-2424)CCC>CCA	p.P808P	CD101_uc009whd.2_Silent_p.P808P|CD101_uc010oxc.1_Silent_p.P808P|CD101_uc010oxd.1_Silent_p.P746P	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	808	Ig-like C2-type 7.|Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---	capture		Silent	SNP	117564601	117564601	3089	1	C	A	A	21	21	CD101	A	2	2
RNF115	27246	broad.mit.edu	37	1	145686980	145686980	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145686980G>T	uc001eoj.2	+	8	876	c.672G>T	c.(670-672)ATG>ATT	p.M224I	NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_Missense_Mutation_p.M191I|RNF115_uc009wiy.2_Missense_Mutation_p.M143I	NM_014455	NP_055270	Q9Y4L5	RN115_HUMAN	Rabring 7	224					protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	145686980	145686980	13907	1	G	T	T	47	47	RNF115	T	2	2
FMO5	2330	broad.mit.edu	37	1	146684906	146684906	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:146684906G>T	uc001epi.2	-	4	845	c.456C>A	c.(454-456)ACC>ACA	p.T152T	FMO5_uc001eph.3_Silent_p.T152T|FMO5_uc001epj.2_Silent_p.T152T|FMO5_uc001epk.3_Silent_p.T152T	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	152						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)																	---	---	---	---	capture		Silent	SNP	146684906	146684906	6200	1	G	T	T	47	47	FMO5	T	2	2
RPRD2	23248	broad.mit.edu	37	1	150444878	150444878	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150444878G>A	uc009wlr.2	+	11	3655	c.3454G>A	c.(3454-3456)GGG>AGG	p.G1152R	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.G1126R	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1152	Poly-Gly.						protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	150444878	150444878	14096	1	G	A	A	47	47	RPRD2	A	2	2
FLG	2312	broad.mit.edu	37	1	152278619	152278619	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152278619G>T	uc001ezu.1	-	3	8779	c.8743C>A	c.(8743-8745)CAT>AAT	p.H2915N		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2915	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---	capture		Missense_Mutation	SNP	152278619	152278619	6160	1	G	T	T	47	47	FLG	T	2	2
FLG	2312	broad.mit.edu	37	1	152280465	152280465	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152280465G>T	uc001ezu.1	-	3	6933	c.6897C>A	c.(6895-6897)TCC>TCA	p.S2299S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2299	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---	capture		Silent	SNP	152280465	152280465	6160	1	G	T	T	47	47	FLG	T	2	2
UBAP2L	9898	broad.mit.edu	37	1	154227742	154227742	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154227742C>A	uc001fep.3	+	17	2191	c.2024C>A	c.(2023-2025)TCC>TAC	p.S675Y	UBAP2L_uc009wot.2_Missense_Mutation_p.S675Y|UBAP2L_uc010pek.1_Missense_Mutation_p.S667Y|UBAP2L_uc010pel.1_Missense_Mutation_p.S685Y|UBAP2L_uc010pen.1_Missense_Mutation_p.S589Y|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'Flank	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	675					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)															---	---	---	---	capture		Missense_Mutation	SNP	154227742	154227742	17395	1	C	A	A	30	30	UBAP2L	A	2	2
ASH1L	55870	broad.mit.edu	37	1	155317595	155317595	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155317595A>G	uc009wqq.2	-	20	8150	c.7670T>C	c.(7669-7671)ATT>ACT	p.I2557T	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.I2552T|MIR555_hsa-mir-555|MI0003561_5'Flank	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2557					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---	capture		Missense_Mutation	SNP	155317595	155317595	1060	1	A	G	G	4	4	ASH1L	G	4	4
MEX3A	92312	broad.mit.edu	37	1	156047123	156047123	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156047123C>A	uc001fnd.3	-	2	805	c.805G>T	c.(805-807)GAG>TAG	p.E269*		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	269	KH 2.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)																	---	---	---	---	capture		Nonsense_Mutation	SNP	156047123	156047123	9899	1	C	A	A	31	31	MEX3A	A	5	1
TMEM79	84283	broad.mit.edu	37	1	156256234	156256234	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156256234C>A	uc010phi.1	+	3	1137	c.941C>A	c.(940-942)CCT>CAT	p.P314H	TMEM79_uc001fod.2_Missense_Mutation_p.P155H|TMEM79_uc009wrw.2_Missense_Mutation_p.P314H	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	314	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1	Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156256234	156256234	16742	1	C	A	A	24	24	TMEM79	A	2	2
CCT3	7203	broad.mit.edu	37	1	156287294	156287294	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156287294G>T	uc001fol.1	-	9	1024	c.804C>A	c.(802-804)CTC>CTA	p.L268L	CCT3_uc001fom.1_Silent_p.L267L|CCT3_uc001fon.1_Silent_p.L230L|CCT3_uc010phj.1_Silent_p.L222L|CCT3_uc010phk.1_Silent_p.L222L|CCT3_uc010phl.1_Silent_p.L222L	NM_005998	NP_005989	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 isoform a	268					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)																	---	---	---	---	capture		Silent	SNP	156287294	156287294	3081	1	G	T	T	41	41	CCT3	T	2	2
INSRR	3645	broad.mit.edu	37	1	156819146	156819146	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156819146G>T	uc010pht.1	-	6	1590	c.1336C>A	c.(1336-1338)CCG>ACG	p.P446T	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	446					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156819146	156819146	8075	1	G	T	T	43	43	INSRR	T	2	2
PEAR1	375033	broad.mit.edu	37	1	156882414	156882414	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156882414G>T	uc001fqj.1	+	17	2325	c.2209G>T	c.(2209-2211)GGA>TGA	p.G737*	PEAR1_uc001fqk.1_Nonsense_Mutation_p.G362*	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	737						integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---	capture		Nonsense_Mutation	SNP	156882414	156882414	12133	1	G	T	T	47	47	PEAR1	T	5	2
CD1A	909	broad.mit.edu	37	1	158225830	158225830	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158225830T>G	uc001frt.2	+	3	895	c.362T>G	c.(361-363)CTG>CGG	p.L121R		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	121	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)													---	---	---	---	capture		Missense_Mutation	SNP	158225830	158225830	3101	1	T	G	G	55	55	CD1A	G	4	4
PRDX6	9588	broad.mit.edu	37	1	173454564	173454564	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173454564G>T	uc001giy.1	+	3	368	c.317G>T	c.(316-318)AGG>ATG	p.R106M		NM_004905	NP_004896	P30041	PRDX6_HUMAN	peroxiredoxin 6	106	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	173454564	173454564	12912	1	G	T	T	35	35	PRDX6	T	2	2
CACNA1E	777	broad.mit.edu	37	1	181680149	181680149	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181680149G>A	uc001gow.2	+	8	1280	c.1115G>A	c.(1114-1116)CGC>CAC	p.R372H	CACNA1E_uc009wxs.2_Missense_Mutation_p.R279H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	372	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	181680149	181680149	2658	1	G	A	A	38	38	CACNA1E	A	1	1
CACNA1S	779	broad.mit.edu	37	1	201029883	201029883	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201029883G>T	uc001gvv.2	-	26	3544	c.3317C>A	c.(3316-3318)CCA>CAA	p.P1106Q		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1106	Cytoplasmic (Potential).|IV.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---	capture		Missense_Mutation	SNP	201029883	201029883	2663	1	G	T	T	47	47	CACNA1S	T	2	2
CHIT1	1118	broad.mit.edu	37	1	203192264	203192264	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203192264G>T	uc001gzn.2	-	6	700	c.604C>A	c.(604-606)CAG>AAG	p.Q202K	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_5'UTR|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.Q193K	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	202					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	203192264	203192264	3480	1	G	T	T	47	47	CHIT1	T	2	2
TTC13	79573	broad.mit.edu	37	1	231081164	231081164	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231081164C>A	uc001huf.3	-	5	581	c.550G>T	c.(550-552)GGG>TGG	p.G184W	TTC13_uc009xfi.2_Intron|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Intron|TTC13_uc009xfk.1_Intron	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	184							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)														---	---	---	---	capture		Missense_Mutation	SNP	231081164	231081164	17234	1	C	A	A	24	24	TTC13	A	2	2
OR6F1	343169	broad.mit.edu	37	1	247875901	247875901	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247875901G>T	uc001idj.1	-	1	157	c.157C>A	c.(157-159)CAT>AAT	p.H53N		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)															---	---	---	---	capture		Missense_Mutation	SNP	247875901	247875901	11611	1	G	T	T	47	47	OR6F1	T	2	2
WAPAL	23063	broad.mit.edu	37	10	88259869	88259869	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88259869C>A	uc001kdo.2	-	3	1573	c.1131G>T	c.(1129-1131)ATG>ATT	p.M377I	WAPAL_uc001kdn.2_Missense_Mutation_p.M420I|WAPAL_uc009xsw.2_Missense_Mutation_p.M377I	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	377	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	88259869	88259869	17820	10	C	A	A	21	21	WAPAL	A	2	2
CNNM2	54805	broad.mit.edu	37	10	104679597	104679597	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104679597C>A	uc001kwm.2	+	1	1484	c.1360C>A	c.(1360-1362)CGG>AGG	p.R454R	CNNM2_uc001kwn.2_Silent_p.R454R|CNNM2_uc001kwl.2_Silent_p.R454R	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	454	CBS 1.				ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)														---	---	---	---	capture		Silent	SNP	104679597	104679597	3751	10	C	A	A	23	23	CNNM2	A	1	1
PDCD11	22984	broad.mit.edu	37	10	105169530	105169530	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105169530C>A	uc001kwy.1	+	8	1032	c.945C>A	c.(943-945)CCC>CCA	p.P315P		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	315	S1 motif 3.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)														---	---	---	---	capture		Silent	SNP	105169530	105169530	12038	10	C	A	A	21	21	PDCD11	A	2	2
CALHM1	255022	broad.mit.edu	37	10	105217992	105217992	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105217992G>T	uc001kxe.2	-	1	657	c.517C>A	c.(517-519)CGA>AGA	p.R173R		NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	173						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	105217992	105217992	2698	10	G	T	T	39	39	CALHM1	T	1	1
NRAP	4892	broad.mit.edu	37	10	115356934	115356934	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115356934G>T	uc001laj.2	-	37	4506	c.4342C>A	c.(4342-4344)CGT>AGT	p.R1448S	NRAP_uc009xyb.2_Missense_Mutation_p.R237S|NRAP_uc001lak.2_Missense_Mutation_p.R1413S|NRAP_uc001lal.3_Missense_Mutation_p.R1448S	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1448	Nebulin 38.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)														---	---	---	---	capture		Missense_Mutation	SNP	115356934	115356934	11043	10	G	T	T	39	39	NRAP	T	1	1
ANO9	338440	broad.mit.edu	37	11	418531	418531	+	Nonsense_Mutation	SNP	G	T	T	rs144928396	byFrequency	TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:418531G>T	uc001lpi.2	-	23	2274	c.2189C>A	c.(2188-2190)TCG>TAG	p.S730*	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Nonsense_Mutation_p.S423*|ANO9_uc010qvv.1_Nonsense_Mutation_p.S586*	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	730	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	418531	418531	712	11	G	T	T	37	37	ANO9	T	5	1
MUC5B	727897	broad.mit.edu	37	11	1256581	1256581	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1256581G>A	uc009ycr.1	+	39	4921	c.4795G>A	c.(4795-4797)GAG>AAG	p.E1599K	MUC5B_uc009yct.1_Missense_Mutation_p.E940K|MUC5B_uc001ltb.2_Missense_Mutation_p.E943K|MUC5B_uc001lta.2_Missense_Mutation_p.E608K	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	940	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)														---	---	---	---	capture		Missense_Mutation	SNP	1256581	1256581	10373	11	G	A	A	37	37	MUC5B	A	1	1
HPX	3263	broad.mit.edu	37	11	6453142	6453142	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6453142C>A	uc001mdg.2	-	8	1002	c.941G>T	c.(940-942)TGG>TTG	p.W314L	HPX_uc001mdf.2_Missense_Mutation_p.W60L|HPX_uc009yfc.2_RNA	NM_000613	NP_000604	P02790	HEMO_HUMAN	hemopexin precursor	314	Hemopexin-like 5.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	6453142	6453142	7638	11	C	A	A	21	21	HPX	A	2	2
MICAL2	9645	broad.mit.edu	37	11	12245047	12245047	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:12245047G>T	uc001mjz.2	+	12	1827	c.1539G>T	c.(1537-1539)AAG>AAT	p.K513N	MICAL2_uc010rch.1_Missense_Mutation_p.K513N|MICAL2_uc001mka.2_Missense_Mutation_p.K513N|MICAL2_uc010rci.1_Missense_Mutation_p.K513N|MICAL2_uc001mkb.2_Missense_Mutation_p.K513N|MICAL2_uc001mkc.2_Missense_Mutation_p.K513N|MICAL2_uc001mkd.2_Missense_Mutation_p.K342N|MICAL2_uc010rcj.1_Translation_Start_Site	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	513						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)														---	---	---	---	capture		Missense_Mutation	SNP	12245047	12245047	9960	11	G	T	T	35	35	MICAL2	T	2	2
NUCB2	4925	broad.mit.edu	37	11	17332440	17332440	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17332440G>T	uc001mmw.2	+	7	797	c.552G>T	c.(550-552)AAG>AAT	p.K184N	NUCB2_uc001mms.1_Missense_Mutation_p.K185N|NUCB2_uc001mmt.1_Missense_Mutation_p.K184N|NUCB2_uc001mmv.1_Missense_Mutation_p.K184N|NUCB2_uc009ygz.2_Missense_Mutation_p.K184N	NM_005013	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2 precursor	184	By similarity.					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	17332440	17332440	11124	11	G	T	T	35	35	NUCB2	T	2	2
NELL1	4745	broad.mit.edu	37	11	21581914	21581914	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:21581914G>C	uc001mqe.2	+	17	2119	c.1966G>C	c.(1966-1968)GTC>CTC	p.V656L	NELL1_uc001mqf.2_Missense_Mutation_p.V609L|NELL1_uc009yid.2_Missense_Mutation_p.V684L|NELL1_uc010rdo.1_Missense_Mutation_p.V599L|NELL1_uc010rdp.1_Missense_Mutation_p.V369L|NELL1_uc001mqh.2_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	656	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	21581914	21581914	10732	11	G	C	C	48	48	NELL1	C	3	3
LRP4	4038	broad.mit.edu	37	11	46896436	46896436	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46896436G>A	uc001ndn.3	-	28	4290	c.4144C>T	c.(4144-4146)CCT>TCT	p.P1382S		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1382	Extracellular (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)														---	---	---	---	capture		Missense_Mutation	SNP	46896436	46896436	9332	11	G	A	A	41	41	LRP4	A	2	2
MRPL16	54948	broad.mit.edu	37	11	59575280	59575280	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59575280C>A	uc001noh.2	-	3	378	c.164G>T	c.(163-165)AGG>ATG	p.R55M		NM_017840	NP_060310	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16 precursor	55							rRNA binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	59575280	59575280	10174	11	C	A	A	24	24	MRPL16	A	2	2
MTA2	9219	broad.mit.edu	37	11	62366082	62366082	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62366082C>A	uc001ntq.1	-	4	601	c.220G>T	c.(220-222)GGG>TGG	p.G74W	MTA2_uc010rlx.1_Translation_Start_Site	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	74	BAH.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	62366082	62366082	10302	11	C	A	A	24	24	MTA2	A	2	2
SCYL1	57410	broad.mit.edu	37	11	65304091	65304091	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65304091G>T	uc001oea.1	+	13	1763	c.1686G>T	c.(1684-1686)ATG>ATT	p.M562I	SCYL1_uc009yqk.2_Missense_Mutation_p.M562I|SCYL1_uc001oeb.1_Missense_Mutation_p.M562I|SCYL1_uc001oec.1_Missense_Mutation_p.M562I|SCYL1_uc001oed.1_Missense_Mutation_p.M419I|SCYL1_uc001oee.1_Missense_Mutation_p.M206I	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	562					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	65304091	65304091	14432	11	G	T	T	47	47	SCYL1	T	2	2
SCYL1	57410	broad.mit.edu	37	11	65305479	65305479	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65305479C>A	uc001oea.1	+	16	2150	c.2073C>A	c.(2071-2073)TCC>TCA	p.S691S	SCYL1_uc009yqk.2_Silent_p.S691S|SCYL1_uc001oeb.1_Silent_p.S674S|SCYL1_uc001oec.1_Missense_Mutation_p.P679Q|SCYL1_uc001oed.1_Silent_p.S548S|SCYL1_uc001oee.1_Silent_p.S335S	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	691					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1																		---	---	---	---	capture		Silent	SNP	65305479	65305479	14432	11	C	A	A	23	23	SCYL1	A	1	1
EIF1AD	84285	broad.mit.edu	37	11	65767115	65767115	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65767115C>A	uc001ogm.1	-	4	513	c.228G>T	c.(226-228)GAG>GAT	p.E76D	EIF1AD_uc001ogn.1_Missense_Mutation_p.E76D|BANF1_uc001ogo.2_5'Flank|BANF1_uc001ogp.2_5'Flank	NM_032325	NP_115701	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A	76	S1-like.					nucleus	translation initiation factor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	65767115	65767115	5180	11	C	A	A	24	24	EIF1AD	A	2	2
TMEM135	65084	broad.mit.edu	37	11	87016979	87016979	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:87016979T>A	uc001pch.2	+	9	723	c.700T>A	c.(700-702)TGC>AGC	p.C234S	TMEM135_uc010rtt.1_Missense_Mutation_p.C95S|TMEM135_uc001pci.2_Missense_Mutation_p.C212S	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	transmembrane protein 135	234						integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---	capture		Missense_Mutation	SNP	87016979	87016979	16583	11	T	A	A	51	51	TMEM135	A	4	4
ZW10	9183	broad.mit.edu	37	11	113610022	113610022	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113610022C>A	uc001poe.2	-	12	1703	c.1666G>T	c.(1666-1668)GGG>TGG	p.G556W	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	556					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)														---	---	---	---	capture		Missense_Mutation	SNP	113610022	113610022	18852	11	C	A	A	23	23	ZW10	A	1	1
EI24	9538	broad.mit.edu	37	11	125449988	125449988	+	Splice_Site	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125449988G>T	uc001qca.2	+	8	804	c.562_splice	c.e8-1	p.G188_splice	EI24_uc001qcb.2_Splice_Site_p.G188_splice|EI24_uc010sbd.1_Splice_Site|EI24_uc009zbl.2_Splice_Site_p.G188_splice|EI24_uc001qcc.2_Splice_Site|EI24_uc010sbe.1_Splice_Site_p.G174_splice|EI24_uc010sbf.1_Splice_Site	NM_004879	NP_004870			etoposide induced 2.4 isoform 1						apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				ovary(1)	1	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)														---	---	---	---	capture		Splice_Site	SNP	125449988	125449988	5174	11	G	T	T	35	35	EI24	T	5	2
KCNJ5	3762	broad.mit.edu	37	11	128781907	128781907	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128781907G>T	uc001qet.2	+	2	1053	c.739G>T	c.(739-741)GGG>TGG	p.G247W	KCNJ5_uc009zck.2_Missense_Mutation_p.G247W|KCNJ5_uc001qew.2_Missense_Mutation_p.G247W	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	247	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)													---	---	---	---	capture		Missense_Mutation	SNP	128781907	128781907	8359	11	G	T	T	43	43	KCNJ5	T	2	2
IGSF9B	22997	broad.mit.edu	37	11	133806017	133806017	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:133806017C>A	uc001qgx.3	-	6	983	c.752G>T	c.(751-753)CGG>CTG	p.R251L	IGSF9B_uc001qgy.1_Missense_Mutation_p.R93L	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	251	Extracellular (Potential).|Ig-like 3.					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)														---	---	---	---	capture		Missense_Mutation	SNP	133806017	133806017	7907	11	C	A	A	23	23	IGSF9B	A	1	1
ATF7IP	55729	broad.mit.edu	37	12	14613749	14613749	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14613749G>T	uc001rbw.2	+	9	2637	c.2479G>T	c.(2479-2481)GGT>TGT	p.G827C	ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.2_Missense_Mutation_p.G827C|ATF7IP_uc001rbv.1_Missense_Mutation_p.G826C|ATF7IP_uc001rbx.2_Missense_Mutation_p.G826C|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.3_Missense_Mutation_p.G827C|ATF7IP_uc001rca.2_Missense_Mutation_p.G827C	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	827					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	14613749	14613749	1106	12	G	T	T	47	47	ATF7IP	T	2	2
SFRS2IP	9169	broad.mit.edu	37	12	46321720	46321720	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46321720G>T	uc001rox.2	-	11	2051	c.1764C>A	c.(1762-1764)TCC>TCA	p.S588S	SFRS2IP_uc001row.2_Silent_p.S273S|SFRS2IP_uc001roy.1_Silent_p.S662S	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	588					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)														---	---	---	---	capture		Silent	SNP	46321720	46321720	14667	12	G	T	T	43	43	SFRS2IP	T	2	2
LIMA1	51474	broad.mit.edu	37	12	50571525	50571525	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50571525G>T	uc001rwj.3	-	11	1776	c.1602C>A	c.(1600-1602)CCC>CCA	p.P534P	LIMA1_uc001rwg.3_Silent_p.P232P|LIMA1_uc001rwh.3_Silent_p.P373P|LIMA1_uc001rwi.3_Silent_p.P375P|LIMA1_uc001rwk.3_Silent_p.P535P|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	534					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	50571525	50571525	9122	12	G	T	T	43	43	LIMA1	T	2	2
KRT73	319101	broad.mit.edu	37	12	53004546	53004546	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53004546T>G	uc001sas.2	-	7	1219	c.1184A>C	c.(1183-1185)AAG>ACG	p.K395T		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	395	Rod.|Coil 2.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---	capture		Missense_Mutation	SNP	53004546	53004546	8801	12	T	G	G	56	56	KRT73	G	4	4
KRT79	338785	broad.mit.edu	37	12	53228025	53228025	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53228025C>A	uc001sbb.2	-	1	53	c.20G>T	c.(19-21)CGG>CTG	p.R7L		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	7	Head.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	53228025	53228025	8807	12	C	A	A	23	23	KRT79	A	1	1
HCFC2	29915	broad.mit.edu	37	12	104481815	104481815	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104481815G>C	uc001tkj.3	+	9	1386	c.1283G>C	c.(1282-1284)AGT>ACT	p.S428T	HCFC2_uc009zul.2_Intron	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	428	Fibronectin type-III 1.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	104481815	104481815	7275	12	G	C	C	36	36	HCFC2	C	3	3
CHST11	50515	broad.mit.edu	37	12	105151079	105151079	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:105151079G>T	uc001tkx.1	+	4	848	c.557G>T	c.(556-558)CGG>CTG	p.R186L	CHST11_uc001tky.2_Missense_Mutation_p.R181L|uc001tkz.2_5'Flank	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	carbohydrate sulfotransferase 11	186	PAPS (By similarity).|Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	105151079	105151079	3533	12	G	T	T	39	39	CHST11	T	1	1
CRY1	1407	broad.mit.edu	37	12	107391326	107391326	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:107391326G>T	uc001tmi.3	-	9	2291	c.1432C>A	c.(1432-1434)CGT>AGT	p.R478S		NM_004075	NP_004066	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	478	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	107391326	107391326	4042	12	G	T	T	39	39	CRY1	T	1	1
GPR133	283383	broad.mit.edu	37	12	131476895	131476895	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:131476895C>A	uc001uit.3	+	8	1483	c.924C>A	c.(922-924)CCC>CCA	p.P308P	GPR133_uc010tbm.1_Silent_p.P340P	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	308	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)														---	---	---	---	capture		Silent	SNP	131476895	131476895	6917	12	C	A	A	21	21	GPR133	A	2	2
DGKH	160851	broad.mit.edu	37	13	42742823	42742823	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42742823G>T	uc001uyl.1	+	11	1257	c.1236G>T	c.(1234-1236)CTG>CTT	p.L412L	DGKH_uc010tfh.1_Silent_p.L412L|DGKH_uc001uym.1_Silent_p.L412L|DGKH_uc010tfi.1_Silent_p.L167L|DGKH_uc010tfj.1_Silent_p.L267L|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.L267L|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	412	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)														---	---	---	---	capture		Silent	SNP	42742823	42742823	4649	13	G	T	T	47	47	DGKH	T	2	2
EDNRB	1910	broad.mit.edu	37	13	78492242	78492242	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:78492242G>T	uc001vko.2	-	1	725	c.467C>A	c.(466-468)CCT>CAT	p.P156H	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.P156H|EDNRB_uc010aez.1_Missense_Mutation_p.P156H|EDNRB_uc001vkp.1_Missense_Mutation_p.P239H|EDNRB_uc010afa.1_Missense_Mutation_p.P156H	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	156	Helical; Name=2; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)													---	---	---	---	capture		Missense_Mutation	SNP	78492242	78492242	5107	13	G	T	T	35	35	EDNRB	T	2	2
TEP1	7011	broad.mit.edu	37	14	20839436	20839436	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20839436G>T	uc001vxe.2	-	51	7298	c.7258C>A	c.(7258-7260)CAC>AAC	p.H2420N	TEP1_uc010ahj.1_RNA|TEP1_uc010ahk.2_Missense_Mutation_p.H1763N|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.H2312N	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2420					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---	capture		Missense_Mutation	SNP	20839436	20839436	16286	14	G	T	T	47	47	TEP1	T	2	2
MYH7	4625	broad.mit.edu	37	14	23896029	23896029	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23896029G>T	uc001wjx.2	-	18	2107	c.2001C>A	c.(1999-2001)CCC>CCA	p.P667P		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	667	Myosin head-like.|Actin-binding.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)														---	---	---	---	capture		Silent	SNP	23896029	23896029	10434	14	G	T	T	43	43	MYH7	T	2	2
AP1G2	8906	broad.mit.edu	37	14	24036450	24036450	+	Missense_Mutation	SNP	C	A	A	rs148804810		TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24036450C>A	uc001wkl.2	-	2	411	c.74G>T	c.(73-75)CGG>CTG	p.R25L	AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_5'UTR|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_RNA|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.R25L|AP1G2_uc010aks.2_5'UTR|AP1G2_uc010akt.2_5'UTR|AP1G2_uc010tnq.1_RNA	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	25					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)												OREG0022606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	24036450	24036450	743	14	C	A	A	23	23	AP1G2	A	1	1
NFATC4	4776	broad.mit.edu	37	14	24845723	24845723	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24845723G>T	uc001wpc.2	+	9	2601	c.2280G>T	c.(2278-2280)CCG>CCT	p.P760P	NFATC4_uc010tok.1_Silent_p.P823P|NFATC4_uc010tol.1_Silent_p.P823P|NFATC4_uc010alr.2_Silent_p.P823P|NFATC4_uc010tom.1_Silent_p.P773P|NFATC4_uc010ton.1_Silent_p.P773P|NFATC4_uc010too.1_Silent_p.P773P|NFATC4_uc010alt.2_Silent_p.P792P|NFATC4_uc010top.1_Silent_p.P792P|NFATC4_uc010toq.1_Silent_p.P792P|NFATC4_uc010tor.1_Silent_p.P760P|NFATC4_uc010tos.1_Silent_p.P690P|NFATC4_uc010tot.1_Silent_p.P748P|NFATC4_uc010tou.1_Silent_p.P690P|NFATC4_uc010tov.1_Silent_p.P748P|NFATC4_uc010tow.1_Silent_p.P690P|NFATC4_uc010alv.2_Silent_p.P748P|NFATC4_uc010tox.1_Silent_p.P690P|NFATC4_uc001wpd.2_Silent_p.P295P|NFATC4_uc010toy.1_Silent_p.P295P|NFATC4_uc010toz.1_Silent_p.P295P|NFATC4_uc010tpa.1_Silent_p.P48P|NFATC4_uc010tpb.1_Silent_p.P48P	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	760	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)														---	---	---	---	capture		Silent	SNP	24845723	24845723	10765	14	G	T	T	39	39	NFATC4	T	1	1
PRKD1	5587	broad.mit.edu	37	14	30135343	30135343	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:30135343A>G	uc001wqh.2	-	3	656	c.475T>C	c.(475-477)TTC>CTC	p.F159L		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	159	Phorbol-ester/DAG-type 1.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)														---	---	---	---	capture		Missense_Mutation	SNP	30135343	30135343	12961	14	A	G	G	1	1	PRKD1	G	4	4
HEATR4	399671	broad.mit.edu	37	14	73976046	73976046	+	Silent	SNP	G	T	T	rs146144273	byFrequency	TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73976046G>T	uc010tub.1	-	8	2012	c.1690C>A	c.(1690-1692)CGG>AGG	p.R564R	HEATR4_uc010tua.1_Silent_p.R517R	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)														---	---	---	---	capture		Silent	SNP	73976046	73976046	7313	14	G	T	T	39	39	HEATR4	T	1	1
C14orf115	55237	broad.mit.edu	37	14	74824464	74824464	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74824464G>T	uc001xpw.3	+	2	1169	c.978G>T	c.(976-978)CGG>CGT	p.R326R		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	326					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)														---	---	---	---	capture		Silent	SNP	74824464	74824464	1788	14	G	T	T	43	43	C14orf115	T	2	2
POMT2	29954	broad.mit.edu	37	14	77767453	77767453	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77767453C>A	uc001xti.2	-	6	997	c.796G>T	c.(796-798)GGA>TGA	p.G266*	POMT2_uc001xth.1_5'UTR|POMT2_uc010asr.2_Nonsense_Mutation_p.G155*	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	266					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)												OREG0022837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Nonsense_Mutation	SNP	77767453	77767453	12675	14	C	A	A	23	23	POMT2	A	5	1
SERPINA3	12	broad.mit.edu	37	14	95088826	95088826	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95088826C>A	uc001ydp.2	+	4	1145	c.1066C>A	c.(1066-1068)CAG>AAG	p.Q356K	SERPINA3_uc001ydo.3_Missense_Mutation_p.Q381K|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.Q356K|SERPINA3_uc001yds.2_Missense_Mutation_p.Q356K|SERPINA3_uc010avg.2_Missense_Mutation_p.Q356K	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	356					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)														---	---	---	---	capture		Missense_Mutation	SNP	95088826	95088826	14578	14	C	A	A	21	21	SERPINA3	A	2	2
PAPOLA	10914	broad.mit.edu	37	14	97009195	97009195	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:97009195C>A	uc001yfq.2	+	14	1464	c.1254C>A	c.(1252-1254)CCC>CCA	p.P418P	PAPOLA_uc001yfr.2_Silent_p.P418P|PAPOLA_uc010twv.1_Silent_p.P418P|PAPOLA_uc010avp.2_Silent_p.P168P	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	418					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)														---	---	---	---	capture		Silent	SNP	97009195	97009195	11846	14	C	A	A	22	22	PAPOLA	A	2	2
FMN1	342184	broad.mit.edu	37	15	33256413	33256413	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33256413G>T	uc001zhf.3	-	5	2364	c.2364C>A	c.(2362-2364)GAC>GAA	p.D788E		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	1011	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)														---	---	---	---	capture		Missense_Mutation	SNP	33256413	33256413	6191	15	G	T	T	48	48	FMN1	T	2	2
DLL4	54567	broad.mit.edu	37	15	41229653	41229653	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41229653C>A	uc001zng.1	+	10	2301	c.1981C>A	c.(1981-1983)CCC>ACC	p.P661T		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	delta-like 4 protein precursor	661	Cytoplasmic (Potential).				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(2)	2		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)														---	---	---	---	capture		Missense_Mutation	SNP	41229653	41229653	4748	15	C	A	A	22	22	DLL4	A	2	2
GRAMD2	196996	broad.mit.edu	37	15	72455714	72455714	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72455714G>T	uc002atq.2	-	10	873	c.849C>A	c.(847-849)CCC>CCA	p.P283P	GRAMD2_uc010bis.2_Silent_p.P283P|GRAMD2_uc010ukh.1_Silent_p.P77P	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	283						integral to membrane					0																		---	---	---	---	capture		Silent	SNP	72455714	72455714	7026	15	G	T	T	47	47	GRAMD2	T	2	2
IDH3A	3419	broad.mit.edu	37	15	78458546	78458546	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78458546C>A	uc002bdd.2	+	10	946	c.919C>A	c.(919-921)CTC>ATC	p.L307I	IDH3A_uc010umt.1_Missense_Mutation_p.L272I|IDH3A_uc010umu.1_Missense_Mutation_p.L198I|IDH3A_uc002bde.2_Missense_Mutation_p.L257I|IDH3A_uc010umv.1_Missense_Mutation_p.L257I|IDH3A_uc002bdf.2_Missense_Mutation_p.L158I|IDH3A_uc002bdg.2_Missense_Mutation_p.L220I	NM_005530	NP_005521	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	307					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	78458546	78458546	7796	15	C	A	A	24	24	IDH3A	A	2	2
MFGE8	4240	broad.mit.edu	37	15	89442905	89442905	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89442905G>T	uc002bng.3	-	7	1121	c.1008C>A	c.(1006-1008)CCC>CCA	p.P336P	MFGE8_uc002bnf.3_Silent_p.P224P|MFGE8_uc002bnh.3_Intron|MFGE8_uc010bnn.2_Silent_p.P328P|MFGE8_uc010upq.1_Silent_p.P292P|MFGE8_uc010upr.1_Silent_p.P336P	NM_005928	NP_005919	Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein isoform a	336	F5/8 type C 2.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					ovary(1)	1	Lung NSC(78;0.0392)|all_lung(78;0.077)																	---	---	---	---	capture		Silent	SNP	89442905	89442905	9910	15	G	T	T	47	47	MFGE8	T	2	2
KIF7	374654	broad.mit.edu	37	15	90171694	90171694	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90171694G>A	uc002bof.2	-	19	4065	c.3988C>T	c.(3988-3990)CGA>TGA	p.R1330*	KIF7_uc010upw.1_Nonsense_Mutation_p.R816*|C15orf42_uc010upv.1_Intron	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1330					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(2)|lung(1)	3	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)															---	---	---	---	capture		Nonsense_Mutation	SNP	90171694	90171694	8620	15	G	A	A	40	40	KIF7	A	5	1
PCSK6	5046	broad.mit.edu	37	15	101933582	101933582	+	Silent	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101933582G>A	uc002bwy.2	-	9	1358	c.1044C>T	c.(1042-1044)GGC>GGT	p.G348G	PCSK6_uc010bpd.2_Silent_p.G218G|PCSK6_uc010bpe.2_Silent_p.G348G|PCSK6_uc002bxa.2_Silent_p.G348G|PCSK6_uc002bxb.2_Silent_p.G348G|PCSK6_uc002bxc.1_Silent_p.G348G|PCSK6_uc002bxd.1_Silent_p.G348G|PCSK6_uc002bxe.2_Silent_p.G348G|PCSK6_uc002bxg.1_Silent_p.G348G	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	348	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)															---	---	---	---	capture		Silent	SNP	101933582	101933582	12025	15	G	A	A	38	38	PCSK6	A	1	1
BAIAP3	8938	broad.mit.edu	37	16	1388906	1388906	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1388906A>C	uc002clk.1	+	3	240	c.240A>C	c.(238-240)AAA>AAC	p.K80N	BAIAP3_uc002clj.2_Missense_Mutation_p.K45N|BAIAP3_uc010uuz.1_Missense_Mutation_p.K45N|BAIAP3_uc010uva.1_Missense_Mutation_p.K45N|BAIAP3_uc010uvb.1_Missense_Mutation_p.K80N|BAIAP3_uc010uvc.1_Missense_Mutation_p.K45N	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	80					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)																---	---	---	---	capture		Missense_Mutation	SNP	1388906	1388906	1325	16	A	C	C	2	2	BAIAP3	C	4	4
TRAF7	84231	broad.mit.edu	37	16	2223536	2223536	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2223536G>T	uc002cow.2	+	11	1166	c.1067G>T	c.(1066-1068)CGG>CTG	p.R356L		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	356					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	2223536	2223536	16990	16	G	T	T	39	39	TRAF7	T	1	1
TRAP1	10131	broad.mit.edu	37	16	3713427	3713427	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3713427G>T	uc002cvt.3	-	14	1795	c.1706C>A	c.(1705-1707)CCA>CAA	p.P569Q	TRAP1_uc002cvs.2_Missense_Mutation_p.P360Q|TRAP1_uc010uxf.1_Missense_Mutation_p.P516Q|uc002cvu.2_RNA	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	569					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)																---	---	---	---	capture		Missense_Mutation	SNP	3713427	3713427	16999	16	G	T	T	47	47	TRAP1	T	2	2
CREBBP	1387	broad.mit.edu	37	16	3789636	3789636	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3789636C>T	uc002cvv.2	-	25	4427	c.4223G>A	c.(4222-4224)TGC>TAC	p.C1408Y	CREBBP_uc002cvw.2_Missense_Mutation_p.C1370Y	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1408	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.C1408Y(1)		haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)				T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	3789636	3789636	4000	16	C	T	T	25	25	CREBBP	T	2	2
A2BP1	54715	broad.mit.edu	37	16	7629902	7629902	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:7629902G>A	uc002cys.2	+	6	1382	c.394G>A	c.(394-396)GAC>AAC	p.D132N	A2BP1_uc010buf.1_Missense_Mutation_p.D132N|A2BP1_uc002cyr.1_Missense_Mutation_p.D131N|A2BP1_uc002cyt.2_Missense_Mutation_p.D132N|A2BP1_uc010uxz.1_Missense_Mutation_p.D175N|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Missense_Mutation_p.D132N|A2BP1_uc010uyb.1_Missense_Mutation_p.D132N|A2BP1_uc002cyw.2_Missense_Mutation_p.D152N|A2BP1_uc002cyy.2_Missense_Mutation_p.D152N|A2BP1_uc002cyx.2_Missense_Mutation_p.D152N|A2BP1_uc010uyc.1_Missense_Mutation_p.D152N	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	132	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)														---	---	---	---	capture		Missense_Mutation	SNP	7629902	7629902	3	16	G	A	A	41	41	A2BP1	A	2	2
MYH11	4629	broad.mit.edu	37	16	15865568	15865568	+	Silent	SNP	A	G	G			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15865568A>G	uc002ddy.2	-	9	998	c.891T>C	c.(889-891)AGT>AGC	p.S297S	MYH11_uc002ddv.2_Silent_p.S304S|MYH11_uc002ddw.2_Silent_p.S297S|MYH11_uc002ddx.2_Silent_p.S304S|MYH11_uc010bvg.2_Silent_p.S129S|MYH11_uc002dea.1_Silent_p.S3S	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	297	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15								T	CBFB	AML								---	---	---	---	capture		Silent	SNP	15865568	15865568	10426	16	A	G	G	6	6	MYH11	G	4	4
ACSM1	116285	broad.mit.edu	37	16	20638543	20638543	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20638543C>A	uc002dhm.1	-	10	1463	c.1395G>T	c.(1393-1395)CTG>CTT	p.L465L	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.L465L	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	465					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	20638543	20638543	183	16	C	A	A	21	21	ACSM1	A	2	2
ZKSCAN2	342357	broad.mit.edu	37	16	25264319	25264319	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:25264319C>A	uc002dod.3	-	3	1033	c.626G>T	c.(625-627)TGG>TTG	p.W209L	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.M1I|ZKSCAN2_uc002doe.2_Missense_Mutation_p.W209L	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	209					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)														---	---	---	---	capture		Missense_Mutation	SNP	25264319	25264319	18278	16	C	A	A	21	21	ZKSCAN2	A	2	2
EIF3CL	728689	broad.mit.edu	37	16	28734627	28734627	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28734627G>T	uc010byj.2	+	10	1011	c.922G>T	c.(922-924)GGA>TGA	p.G308*	uc010vct.1_Intron|EIF3CL_uc010byi.2_Nonsense_Mutation_p.G307*|EIF3CL_uc002dqs.3_Nonsense_Mutation_p.G307*|EIF3C_uc002dqt.3_Nonsense_Mutation_p.G307*|EIF3CL_uc010vcy.1_Nonsense_Mutation_p.G297*|EIF3C_uc002dqu.3_Nonsense_Mutation_p.G307*|EIF3CL_uc002dqv.3_Nonsense_Mutation_p.G53*	NM_001099661	NP_001093131	B5ME19	B5ME19_HUMAN	eukaryotic translation initiation factor 3,	308						eukaryotic translation initiation factor 3 complex	translation initiation factor activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	28734627	28734627	5204	16	G	T	T	39	39	EIF3CL	T	5	1
MYLK3	91807	broad.mit.edu	37	16	46773983	46773983	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:46773983C>A	uc002eei.3	-	2	670	c.554G>T	c.(553-555)AGG>ATG	p.R185M	MYLK3_uc010vge.1_Translation_Start_Site|MYLK3_uc002eej.1_5'Flank	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	185					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)																---	---	---	---	capture		Missense_Mutation	SNP	46773983	46773983	10453	16	C	A	A	24	24	MYLK3	A	2	2
NETO2	81831	broad.mit.edu	37	16	47162370	47162370	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:47162370G>T	uc002eer.1	-	4	732	c.347C>A	c.(346-348)CCT>CAT	p.P116H	NETO2_uc010vgf.1_5'UTR|NETO2_uc002ees.1_Missense_Mutation_p.P116H	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	116	Extracellular (Potential).|CUB 1.					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)													HNSCC(25;0.065)			---	---	---	---	capture		Missense_Mutation	SNP	47162370	47162370	10739	16	G	T	T	35	35	NETO2	T	2	2
FTO	79068	broad.mit.edu	37	16	53922817	53922817	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:53922817A>T	uc002ehr.2	+	7	1415	c.1193A>T	c.(1192-1194)CAA>CTA	p.Q398L	FTO_uc010vha.1_Missense_Mutation_p.Q102L|FTO_uc010cbz.2_5'UTR	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	398					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---	capture		Missense_Mutation	SNP	53922817	53922817	6337	16	A	T	T	5	5	FTO	T	4	4
GPR56	9289	broad.mit.edu	37	16	57689812	57689812	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57689812G>T	uc002emb.2	+	8	1217	c.925G>T	c.(925-927)GGT>TGT	p.G309C	GPR56_uc002elz.1_Missense_Mutation_p.G139C|GPR56_uc002ema.1_Missense_Mutation_p.G134C|GPR56_uc002emc.2_Missense_Mutation_p.G309C|GPR56_uc002emf.2_Missense_Mutation_p.G309C|GPR56_uc010vhs.1_Missense_Mutation_p.G309C|GPR56_uc002emd.2_Missense_Mutation_p.G309C|GPR56_uc002eme.2_Missense_Mutation_p.G309C|GPR56_uc010vht.1_Missense_Mutation_p.G314C|GPR56_uc002emg.3_Missense_Mutation_p.G309C|GPR56_uc010vhu.1_Missense_Mutation_p.G134C	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	309	Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	57689812	57689812	6975	16	G	T	T	43	43	GPR56	T	2	2
TK2	7084	broad.mit.edu	37	16	66551064	66551064	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66551064C>A	uc002eos.2	-	8	944	c.719G>T	c.(718-720)AGG>ATG	p.R240M	TK2_uc010vip.1_Missense_Mutation_p.R101M|TK2_uc002eor.2_Missense_Mutation_p.R167M|TK2_uc010cdq.2_Intron|TK2_uc010cdr.2_Missense_Mutation_p.R149M|TK2_uc010viq.1_Missense_Mutation_p.R222M|TK2_uc010vir.1_Missense_Mutation_p.R215M	NM_004614	NP_004605	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	198					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)												OREG0032067	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	---	---	---	---	capture		Missense_Mutation	SNP	66551064	66551064	16462	16	C	A	A	24	24	TK2	A	2	2
FAM65A	79567	broad.mit.edu	37	16	67576555	67576555	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67576555C>A	uc010vjp.1	+	13	2022	c.1926C>A	c.(1924-1926)CCC>CCA	p.P642P	FAM65A_uc010cei.1_Silent_p.P464P|FAM65A_uc002eth.2_Silent_p.P622P|FAM65A_uc010cej.2_Silent_p.P625P|FAM65A_uc002eti.1_Silent_p.P585P|FAM65A_uc010vjq.1_Silent_p.P636P|FAM65A_uc002etj.1_Silent_p.P621P|FAM65A_uc002etk.2_Silent_p.P621P	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	626	Pro-rich.					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		Silent	SNP	67576555	67576555	5822	16	C	A	A	21	21	FAM65A	A	2	2
RANBP10	57610	broad.mit.edu	37	16	67768792	67768792	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67768792G>T	uc002eud.2	-	6	861	c.745C>A	c.(745-747)CGG>AGG	p.R249R	RANBP10_uc010ceo.2_Silent_p.R20R|RANBP10_uc010vju.1_Silent_p.R193R|RANBP10_uc010vjv.1_Silent_p.R132R|RANBP10_uc010vjx.1_Silent_p.R249R|RANBP10_uc010vjy.1_Silent_p.R117R	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	249										ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)														---	---	---	---	capture		Silent	SNP	67768792	67768792	13486	16	G	T	T	39	39	RANBP10	T	1	1
NFATC3	4775	broad.mit.edu	37	16	68156951	68156951	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68156951G>T	uc002evo.1	+	2	1375	c.1165G>T	c.(1165-1167)GGT>TGT	p.G389C	NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.G389C|NFATC3_uc002evm.1_Missense_Mutation_p.G389C|NFATC3_uc002evn.1_Missense_Mutation_p.G389C|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells,	389					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)														---	---	---	---	capture		Missense_Mutation	SNP	68156951	68156951	10764	16	G	T	T	47	47	NFATC3	T	2	2
ADAMTS18	170692	broad.mit.edu	37	16	77325290	77325290	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77325290G>T	uc002ffc.3	-	21	3694	c.3275C>A	c.(3274-3276)CCA>CAA	p.P1092Q		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1092	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18																		---	---	---	---	capture		Missense_Mutation	SNP	77325290	77325290	264	16	G	T	T	47	47	ADAMTS18	T	2	2
NUDT7	283927	broad.mit.edu	37	16	77759466	77759466	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77759466C>A	uc010chd.2	+	2	243	c.174C>A	c.(172-174)ACC>ACA	p.T58T	NUDT7_uc002fff.2_Silent_p.T58T|NUDT7_uc010vnj.1_Silent_p.T58T	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	nudix motif 7	58	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			ovary(1)|kidney(1)	2																		---	---	---	---	capture		Silent	SNP	77759466	77759466	11149	16	C	A	A	23	23	NUDT7	A	1	1
SLC38A8	146167	broad.mit.edu	37	16	84075626	84075626	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84075626G>T	uc002fhg.1	-	1	137	c.137C>A	c.(136-138)CCC>CAC	p.P46H		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	46	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	84075626	84075626	15107	16	G	T	T	43	43	SLC38A8	T	2	2
YWHAE	7531	broad.mit.edu	37	17	1264402	1264402	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1264402G>T	uc002fsj.2	-	4	714	c.562C>A	c.(562-564)CCT>ACT	p.P188T	YWHAE_uc002fsk.2_Missense_Mutation_p.P166T|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_Intron	NM_006761	NP_006752	P62258	1433E_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	188					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			lung(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)														---	---	---	---	capture		Missense_Mutation	SNP	1264402	1264402	18085	17	G	T	T	43	43	YWHAE	T	2	2
SMG6	23293	broad.mit.edu	37	17	2202732	2202732	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2202732C>A	uc002fub.1	-	2	1370	c.1315G>T	c.(1315-1317)GGT>TGT	p.G439C	SMG6_uc002fud.1_Missense_Mutation_p.G408C	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	439	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	2202732	2202732	15295	17	C	A	A	21	21	SMG6	A	2	2
OR1A1	8383	broad.mit.edu	37	17	3118956	3118956	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3118956C>A	uc010vrc.1	+	1	42	c.42C>A	c.(40-42)CTC>CTA	p.L14L		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	3118956	3118956	11355	17	C	A	A	30	30	OR1A1	A	2	2
PSMB6	5694	broad.mit.edu	37	17	4701048	4701048	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4701048G>T	uc002fzb.2	+	4	407	c.374G>T	c.(373-375)CGG>CTG	p.R125L		NM_002798	NP_002789	P28072	PSB6_HUMAN	proteasome beta 6 subunit precursor	125					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	4701048	4701048	13134	17	G	T	T	39	39	PSMB6	T	1	1
SLC16A13	201232	broad.mit.edu	37	17	6943176	6943176	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6943176C>A	uc002geh.2	+	4	1484	c.1176C>A	c.(1174-1176)CCC>CCA	p.P392P		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	monocarboxylate transporter 13	392	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	6943176	6943176	14902	17	C	A	A	22	22	SLC16A13	A	2	2
DLG4	1742	broad.mit.edu	37	17	7094078	7094078	+	Silent	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7094078G>A	uc002get.3	-	22	3454	c.2253C>T	c.(2251-2253)ATC>ATT	p.I751I	DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Silent_p.I648I|DLG4_uc010cly.2_Silent_p.I705I|DLG4_uc010vto.1_Silent_p.I748I	NM_001365	NP_001356	P78352	DLG4_HUMAN	post-synaptic density protein 95 isoform 1	708	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			ovary(1)|breast(1)	2																		---	---	---	---	capture		Silent	SNP	7094078	7094078	4737	17	G	A	A	37	37	DLG4	A	1	1
DNAH2	146754	broad.mit.edu	37	17	7696493	7696493	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7696493C>A	uc002giu.1	+	47	7553	c.7539C>A	c.(7537-7539)GAC>GAA	p.D2513E		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2513	AAA 3 (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	7696493	7696493	4785	17	C	A	A	18	18	DNAH2	A	2	2
SLC47A1	55244	broad.mit.edu	37	17	19470475	19470475	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19470475G>T	uc002gvy.1	+	14	1329	c.1243G>T	c.(1243-1245)GGG>TGG	p.G415W	SLC47A1_uc002gvx.2_Missense_Mutation_p.G415W|SLC47A1_uc010vyz.1_Missense_Mutation_p.G392W|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.G220W|SLC47A1_uc010vza.1_Missense_Mutation_p.G127W|SLC47A1_uc010vzb.1_Missense_Mutation_p.G149W|SLC47A1_uc010vzc.1_Missense_Mutation_p.G87W	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	solute carrier family 47, member 1	415	Helical; (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)																	---	---	---	---	capture		Missense_Mutation	SNP	19470475	19470475	15144	17	G	T	T	47	47	SLC47A1	T	2	2
C17orf75	64149	broad.mit.edu	37	17	30662397	30662397	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30662397G>T	uc002hhg.2	-	6	645	c.614C>A	c.(613-615)CCA>CAA	p.P205Q		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	hypothetical protein LOC64149	205					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)															---	---	---	---	capture		Missense_Mutation	SNP	30662397	30662397	1938	17	G	T	T	47	47	C17orf75	T	2	2
SLFN11	91607	broad.mit.edu	37	17	33690294	33690294	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33690294G>C	uc010ctp.2	-	4	975	c.533C>G	c.(532-534)CCT>CGT	p.P178R	SLFN11_uc010ctq.2_Missense_Mutation_p.P178R|SLFN11_uc002hjh.3_Missense_Mutation_p.P178R|SLFN11_uc002hjg.3_Missense_Mutation_p.P178R|SLFN11_uc010ctr.2_Missense_Mutation_p.P178R	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	178						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---	capture		Missense_Mutation	SNP	33690294	33690294	15230	17	G	C	C	35	35	SLFN11	C	3	3
CWC25	54883	broad.mit.edu	37	17	36958422	36958422	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36958422C>A	uc002hqu.2	-	10	1354	c.1201G>T	c.(1201-1203)GAG>TAG	p.E401*	CWC25_uc010wdv.1_Nonsense_Mutation_p.E338*|PIP4K2B_uc002hqs.2_5'Flank|PIP4K2B_uc010wdt.1_5'Flank	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	coiled-coil domain containing 49	401											0																		---	---	---	---	capture		Nonsense_Mutation	SNP	36958422	36958422	4229	17	C	A	A	30	30	CWC25	A	5	2
KRT39	390792	broad.mit.edu	37	17	39122796	39122796	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39122796C>A	uc002hvo.1	-	1	349	c.313G>T	c.(313-315)GAG>TAG	p.E105*	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	105	Coil 1A.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)																---	---	---	---	capture		Nonsense_Mutation	SNP	39122796	39122796	8791	17	C	A	A	31	31	KRT39	A	5	1
MPP3	4356	broad.mit.edu	37	17	41891655	41891655	+	Nonsense_Mutation	SNP	C	A	A	rs34130012	by1000genomes	TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41891655C>A	uc002iei.3	-	15	1250	c.1084G>T	c.(1084-1086)GGA>TGA	p.G362*	MPP3_uc002ieh.2_Nonsense_Mutation_p.G387*|MPP3_uc002iej.2_RNA	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	362					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)														---	---	---	---	capture		Nonsense_Mutation	SNP	41891655	41891655	10127	17	C	A	A	23	23	MPP3	A	5	1
EFTUD2	9343	broad.mit.edu	37	17	42937901	42937901	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42937901C>A	uc002ihn.2	-	17	1879	c.1618G>T	c.(1618-1620)GAG>TAG	p.E540*	EFTUD2_uc010wje.1_Nonsense_Mutation_p.E505*|EFTUD2_uc010wjf.1_Nonsense_Mutation_p.E530*	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	540						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)																---	---	---	---	capture		Nonsense_Mutation	SNP	42937901	42937901	5150	17	C	A	A	31	31	EFTUD2	A	5	1
SNX11	29916	broad.mit.edu	37	17	46189964	46189964	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46189964C>A	uc002inf.1	+	4	425	c.71C>A	c.(70-72)CCC>CAC	p.P24H	SNX11_uc010wlg.1_Missense_Mutation_p.P16H|SNX11_uc010wlh.1_Missense_Mutation_p.P16H|SNX11_uc010wli.1_5'UTR|SNX11_uc010wlj.1_Intron|SNX11_uc002ing.1_Missense_Mutation_p.P24H|SNX11_uc002inh.1_Missense_Mutation_p.P24H	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	24	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	46189964	46189964	15382	17	C	A	A	22	22	SNX11	A	2	2
MYST2	11143	broad.mit.edu	37	17	47886480	47886480	+	Splice_Site	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47886480G>T	uc002ipm.2	+	6	790	c.664_splice	c.e6-1	p.V222_splice	MYST2_uc002ipl.1_Intron|MYST2_uc010wma.1_Splice_Site_p.V83_splice|MYST2_uc010wmb.1_Intron|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_Splice_Site_p.V66_splice|MYST2_uc010wme.1_Intron	NM_007067	NP_008998			MYST histone acetyltransferase 2						DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---	capture		Splice_Site	SNP	47886480	47886480	10498	17	G	T	T	35	35	MYST2	T	5	2
PDK2	5164	broad.mit.edu	37	17	48183400	48183400	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48183400C>A	uc002iqc.2	+	4	588	c.484C>A	c.(484-486)CGC>AGC	p.R162S	PDK2_uc002iqb.2_Missense_Mutation_p.R98S	NM_002611	NP_002602	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase 2 precursor	162	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(3)	3														Autosomal_Dominant_Polycystic_Kidney_Disease				---	---	---	---	capture		Missense_Mutation	SNP	48183400	48183400	12097	17	C	A	A	23	23	PDK2	A	1	1
CA10	56934	broad.mit.edu	37	17	50008434	50008434	+	Silent	SNP	C	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:50008434C>T	uc002itw.3	-	3	1181	c.195G>A	c.(193-195)CGG>CGA	p.R65R	CA10_uc002itv.3_Silent_p.R71R|CA10_uc002itx.3_Silent_p.R65R|CA10_uc002ity.3_Silent_p.R65R|CA10_uc002itz.2_Silent_p.R65R	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	65					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)															---	---	---	---	capture		Silent	SNP	50008434	50008434	2627	17	C	T	T	26	26	CA10	T	2	2
TOM1L1	10040	broad.mit.edu	37	17	52993166	52993166	+	Silent	SNP	C	T	T	rs141567240		TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:52993166C>T	uc002iud.2	+	7	838	c.663C>T	c.(661-663)GCC>GCT	p.A221A	TOM1L1_uc002iub.2_Silent_p.A186A|TOM1L1_uc002iuc.2_Silent_p.A221A|TOM1L1_uc010dca.1_Silent_p.A221A|TOM1L1_uc010wnb.1_Silent_p.A214A|TOM1L1_uc010wnc.1_Silent_p.A144A|TOM1L1_uc010dbz.2_Silent_p.A144A|TOM1L1_uc010wnd.1_Silent_p.A109A|TOM1L1_uc010dcb.1_RNA	NM_005486	NP_005477	O75674	TM1L1_HUMAN	target of myb1-like 1	221	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	52993166	52993166	16893	17	C	T	T	21	21	TOM1L1	T	2	2
ABCA6	23460	broad.mit.edu	37	17	67079035	67079035	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67079035G>T	uc002jhw.1	-	36	4770	c.4595C>A	c.(4594-4596)CCA>CAA	p.P1532Q		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	1532					transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)																	---	---	---	---	capture		Missense_Mutation	SNP	67079035	67079035	37	17	G	T	T	47	47	ABCA6	T	2	2
SSTR2	6752	broad.mit.edu	37	17	71166359	71166359	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:71166359A>T	uc002jje.2	+	2	1261	c.901A>T	c.(901-903)ACC>TCC	p.T301S		NM_001050	NP_001041	P30874	SSR2_HUMAN	somatostatin receptor 2	301	Helical; Name=7; (Potential).				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity				0			LUSC - Lung squamous cell carcinoma(166;0.197)															---	---	---	---	capture		Missense_Mutation	SNP	71166359	71166359	15714	17	A	T	T	6	6	SSTR2	T	4	4
RECQL5	9400	broad.mit.edu	37	17	73625875	73625875	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73625875C>A	uc010dgl.2	-	15	2016	c.1860G>T	c.(1858-1860)ATG>ATT	p.M620I	RECQL5_uc010dgk.2_Missense_Mutation_p.M593I|RECQL5_uc002jot.3_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	620					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)										Other_identified_genes_with_known_or_suspected_DNA_repair_function					---	---	---	---	capture		Missense_Mutation	SNP	73625875	73625875	13672	17	C	A	A	21	21	RECQL5	A	2	2
MGAT5B	146664	broad.mit.edu	37	17	74878253	74878253	+	Missense_Mutation	SNP	C	A	A	rs142999318		TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74878253C>A	uc002jtg.3	+	3	516	c.202C>A	c.(202-204)CGC>AGC	p.R68S	MGAT5B_uc002jth.2_Missense_Mutation_p.R68S|MGAT5B_uc002jti.2_Missense_Mutation_p.R79S			Q3V5L5	MGT5B_HUMAN	Homo sapiens GnT-IX mRNA for N-Acetylglucosaminyltransferase IX, complete cds.	68	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.R68H(1)		ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	74878253	74878253	9939	17	C	A	A	23	23	MGAT5B	A	1	1
SEC14L1	6397	broad.mit.edu	37	17	75208270	75208270	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:75208270G>A	uc002jto.2	+	15	2117	c.1850G>A	c.(1849-1851)GGA>GAA	p.G617E	SEC14L1_uc010dhc.2_Missense_Mutation_p.G617E|SEC14L1_uc010wth.1_Missense_Mutation_p.G617E|SEC14L1_uc002jtm.2_Missense_Mutation_p.G617E|SEC14L1_uc010wti.1_Missense_Mutation_p.G583E|SEC14L1_uc010wtj.1_Silent_p.R105R|SEC14L1_uc002jtr.2_Missense_Mutation_p.G11E	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	617	GOLD.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	75208270	75208270	14467	17	G	A	A	41	41	SEC14L1	A	2	2
CCDC40	55036	broad.mit.edu	37	17	78039299	78039299	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78039299G>A	uc010dht.2	+	10	1483	c.1456G>A	c.(1456-1458)GAC>AAC	p.D486N	CCDC40_uc010wub.1_Intron|CCDC40_uc002jxm.3_Missense_Mutation_p.D269N	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	486					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)															---	---	---	---	capture		Missense_Mutation	SNP	78039299	78039299	2934	17	G	A	A	37	37	CCDC40	A	1	1
SS18	6760	broad.mit.edu	37	18	23614989	23614989	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23614989G>T	uc002kvm.2	-	9	1154	c.1076C>A	c.(1075-1077)CCA>CAA	p.P359Q	SS18_uc002kvn.2_Missense_Mutation_p.P328Q|SS18_uc010xbf.1_Missense_Mutation_p.P277Q|SS18_uc010xbg.1_Missense_Mutation_p.P276Q|SS18_uc010xbh.1_Missense_Mutation_p.P276Q|SS18_uc010xbi.1_Missense_Mutation_p.P336Q|SS18_uc010dlz.1_Missense_Mutation_p.P307Q	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	359	2.|Gln-rich.|2 X 13 AA imperfect tandem repeats.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)							T	SSX1| SSX2	synovial sarcoma								---	---	---	---	capture		Missense_Mutation	SNP	23614989	23614989	15690	18	G	T	T	47	47	SS18	T	2	2
ASXL3	80816	broad.mit.edu	37	18	31324284	31324284	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31324284T>C	uc010dmg.1	+	12	4527	c.4472T>C	c.(4471-4473)GTT>GCT	p.V1491A	ASXL3_uc002kxq.2_Missense_Mutation_p.V1198A	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	31324284	31324284	1087	18	T	C	C	60	60	ASXL3	C	4	4
SMAD2	4087	broad.mit.edu	37	18	45396917	45396917	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:45396917C>A	uc002lcy.2	-	3	503	c.255G>T	c.(253-255)TGG>TGT	p.W85C	SMAD2_uc002lcz.2_Missense_Mutation_p.W85C|SMAD2_uc010xdc.1_Intron|SMAD2_uc010xdd.1_Intron	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	85	MH1.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			large_intestine(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	45396917	45396917	15256	18	C	A	A	22	22	SMAD2	A	2	2
MYO5B	4645	broad.mit.edu	37	18	47500812	47500812	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47500812G>T	uc002leb.2	-	10	1518	c.1230C>A	c.(1228-1230)GCC>GCA	p.A410A	MYO5B_uc002lec.1_Silent_p.A409A	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	410	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)														---	---	---	---	capture		Silent	SNP	47500812	47500812	10474	18	G	T	T	43	43	MYO5B	T	2	2
CCBE1	147372	broad.mit.edu	37	18	57103212	57103212	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:57103212C>A	uc002lib.2	-	11	1219	c.1149G>T	c.(1147-1149)CTG>CTT	p.L383L	CCBE1_uc010dpq.2_Silent_p.L112L|CCBE1_uc002lia.2_Silent_p.L236L	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	383					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			skin(2)|ovary(1)	3		Colorectal(73;0.175)																---	---	---	---	capture		Silent	SNP	57103212	57103212	2851	18	C	A	A	21	21	CCBE1	A	2	2
ANKRD24	170961	broad.mit.edu	37	19	4217104	4217104	+	Silent	SNP	A	G	G			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4217104A>G	uc010dtt.1	+	18	2223	c.1947A>G	c.(1945-1947)GAA>GAG	p.E649E	ANKRD24_uc002lzs.2_Silent_p.E620E|ANKRD24_uc002lzt.2_Silent_p.E621E	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	649											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)														---	---	---	---	capture		Silent	SNP	4217104	4217104	658	19	A	G	G	3	3	ANKRD24	G	4	4
SH3GL1	6455	broad.mit.edu	37	19	4366964	4366964	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4366964C>A	uc002maj.2	-	2	179	c.73G>T	c.(73-75)GAG>TAG	p.E25*	SH3GL1_uc002mak.2_Nonsense_Mutation_p.E25*|SH3GL1_uc010xig.1_Nonsense_Mutation_p.E25*	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	25	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)				T	MLL	AL								---	---	---	---	capture		Nonsense_Mutation	SNP	4366964	4366964	14742	19	C	A	A	31	31	SH3GL1	A	5	1
SEMA6B	10501	broad.mit.edu	37	19	4548318	4548318	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4548318G>T	uc010duc.1	-	12	1449	c.1411C>A	c.(1411-1413)CTC>ATC	p.L471I	SEMA6B_uc010dud.2_Missense_Mutation_p.L471I|SEMA6B_uc010xih.1_Missense_Mutation_p.L471I	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	471	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---	capture		Missense_Mutation	SNP	4548318	4548318	14526	19	G	T	T	34	34	SEMA6B	T	2	2
SAFB	6294	broad.mit.edu	37	19	5641789	5641789	+	Silent	SNP	C	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5641789C>T	uc002mcf.2	+	4	431	c.378C>T	c.(376-378)ATC>ATT	p.I126I	SAFB_uc010xiq.1_Silent_p.I126I|SAFB_uc002mcg.2_Silent_p.I126I|SAFB_uc002mce.3_Silent_p.I126I|SAFB_uc010xir.1_Silent_p.I126I|SAFB_uc010xis.1_Intron|SAFB_uc010xit.1_Intron|SAFB_uc010xiu.1_Intron	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	126					chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)														---	---	---	---	capture		Silent	SNP	5641789	5641789	14286	19	C	T	T	31	31	SAFB	T	1	1
MUC16	94025	broad.mit.edu	37	19	9047279	9047279	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9047279G>T	uc002mkp.2	-	5	34556	c.34352C>A	c.(34351-34353)CCT>CAT	p.P11451H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11453	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	9047279	9047279	10367	19	G	T	T	35	35	MUC16	T	2	2
MUC16	94025	broad.mit.edu	37	19	9056521	9056521	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9056521C>A	uc002mkp.2	-	3	31129	c.30925G>T	c.(30925-30927)GAG>TAG	p.E10309*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10311	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---	capture		Nonsense_Mutation	SNP	9056521	9056521	10367	19	C	A	A	32	32	MUC16	A	5	2
MUC16	94025	broad.mit.edu	37	19	9089419	9089419	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9089419C>A	uc002mkp.2	-	1	2600	c.2396G>T	c.(2395-2397)GGG>GTG	p.G799V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	799	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	9089419	9089419	10367	19	C	A	A	22	22	MUC16	A	2	2
CDC37	11140	broad.mit.edu	37	19	10506132	10506132	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10506132C>A	uc002mof.1	-	3	582	c.466G>T	c.(466-468)GAG>TAG	p.E156*	CDC37_uc002moe.1_Nonsense_Mutation_p.E111*|CDC37_uc010dxf.1_5'UTR|CDC37_uc002mog.1_Nonsense_Mutation_p.E156*|CDC37_uc002moh.2_Nonsense_Mutation_p.E156*	NM_007065	NP_008996	Q16543	CDC37_HUMAN	cell division cycle 37 protein	156					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding				0			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)														---	---	---	---	capture		Nonsense_Mutation	SNP	10506132	10506132	3196	19	C	A	A	31	31	CDC37	A	5	1
KEAP1	9817	broad.mit.edu	37	19	10610247	10610247	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10610247C>A	uc002moq.1	-	2	619	c.463G>T	c.(463-465)GTC>TTC	p.V155F	KEAP1_uc002mor.1_Missense_Mutation_p.V155F	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)															---	---	---	---	capture		Missense_Mutation	SNP	10610247	10610247	8447	19	C	A	A	19	19	KEAP1	A	1	1
SIN3B	23309	broad.mit.edu	37	19	16962230	16962230	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16962230G>C	uc002ney.1	+	6	748	c.734G>C	c.(733-735)GGA>GCA	p.G245A	SIN3B_uc002new.2_Missense_Mutation_p.G245A|SIN3B_uc002nex.2_Missense_Mutation_p.G177A|SIN3B_uc002nez.1_Missense_Mutation_p.G245A	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	245					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	16962230	16962230	14821	19	G	C	C	41	41	SIN3B	C	3	3
ZNF101	94039	broad.mit.edu	37	19	19790024	19790024	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19790024G>T	uc002nni.1	+	4	336	c.226G>T	c.(226-228)GGG>TGG	p.G76W	ZNF101_uc010ecg.1_Translation_Start_Site|ZNF101_uc002nnj.1_Translation_Start_Site	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	zinc finger protein 101	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	19790024	19790024	18305	19	G	T	T	35	35	ZNF101	T	2	2
ZNF101	94039	broad.mit.edu	37	19	19790255	19790255	+	Missense_Mutation	SNP	C	A	A	rs33967144	byFrequency;by1000genomes	TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19790255C>A	uc002nni.1	+	4	567	c.457C>A	c.(457-459)CCC>ACC	p.P153T	ZNF101_uc010ecg.1_Missense_Mutation_p.P33T|ZNF101_uc002nnj.1_Missense_Mutation_p.P33T	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	zinc finger protein 101	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	19790255	19790255	18305	19	C	A	A	22	22	ZNF101	A	2	2
ZNF493	284443	broad.mit.edu	37	19	21605993	21605993	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21605993G>T	uc002npx.2	+	2	428	c.148G>T	c.(148-150)GGA>TGA	p.G50*	ZNF493_uc002npw.2_Nonsense_Mutation_p.G178*|ZNF493_uc002npy.2_Nonsense_Mutation_p.G50*	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	21605993	21605993	18538	19	G	T	T	47	47	ZNF493	T	5	2
CCNE1	898	broad.mit.edu	37	19	30313450	30313450	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30313450G>T	uc002nsn.2	+	11	1233	c.1050G>T	c.(1048-1050)AGG>AGT	p.R350S	CCNE1_uc002nso.2_Missense_Mutation_p.R335S|CCNE1_uc002nsp.2_Missense_Mutation_p.R97S	NM_001238	NP_001229	P24864	CCNE1_HUMAN	cyclin E1 isoform 1	350					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			lung(2)	2	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	30313450	30313450	3047	19	G	T	T	43	43	CCNE1	T	2	2
LRFN3	79414	broad.mit.edu	37	19	36431031	36431031	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36431031G>T	uc002oco.2	+	2	1156	c.704G>T	c.(703-705)CGG>CTG	p.R235L		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	235	Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---	capture		Missense_Mutation	SNP	36431031	36431031	9312	19	G	T	T	39	39	LRFN3	T	1	1
LRFN3	79414	broad.mit.edu	37	19	36431636	36431636	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36431636G>T	uc002oco.2	+	2	1761	c.1309G>T	c.(1309-1311)GGG>TGG	p.G437W		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	437	Extracellular (Potential).|Fibronectin type-III.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---	capture		Missense_Mutation	SNP	36431636	36431636	9312	19	G	T	T	39	39	LRFN3	T	1	1
ZNF260	339324	broad.mit.edu	37	19	37005242	37005242	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37005242C>A	uc002oee.1	-	4	1743	c.899G>T	c.(898-900)GGA>GTA	p.G300V	ZNF260_uc002oed.1_Missense_Mutation_p.G297V|ZNF260_uc010eey.1_Missense_Mutation_p.G297V|ZNF260_uc002oef.1_Missense_Mutation_p.G297V	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	300					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)																	---	---	---	---	capture		Missense_Mutation	SNP	37005242	37005242	18394	19	C	A	A	30	30	ZNF260	A	2	2
RYR1	6261	broad.mit.edu	37	19	39002950	39002950	+	Nonsense_Mutation	SNP	C	A	A	rs148412985		TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39002950C>A	uc002oit.2	+	63	9429	c.9299C>A	c.(9298-9300)TCG>TAG	p.S3100*	RYR1_uc002oiu.2_Nonsense_Mutation_p.S3100*|RYR1_uc002oiv.1_Nonsense_Mutation_p.S20*|RYR1_uc010xuf.1_Nonsense_Mutation_p.S20*	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3100	Cytoplasmic.				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		Nonsense_Mutation	SNP	39002950	39002950	14248	19	C	A	A	31	31	RYR1	A	5	1
ZFP36	7538	broad.mit.edu	37	19	39898388	39898388	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39898388C>A	uc002olh.1	+	2	88	c.30C>A	c.(28-30)CTC>CTA	p.L10L	ZFP36_uc010egn.1_5'UTR	NM_003407	NP_003398	P26651	TTP_HUMAN	zinc finger protein 36, C3H type, homolog	10					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			pancreas(1)	1	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)															---	---	---	---	capture		Silent	SNP	39898388	39898388	18233	19	C	A	A	30	30	ZFP36	A	2	2
FCGBP	8857	broad.mit.edu	37	19	40421114	40421114	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40421114C>A	uc002omp.3	-	5	2815	c.2807G>T	c.(2806-2808)CGG>CTG	p.R936L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	936	VWFD 2.					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	40421114	40421114	6015	19	C	A	A	23	23	FCGBP	A	1	1
PLD3	23646	broad.mit.edu	37	19	40872569	40872569	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40872569A>T	uc002onm.3	+	4	478	c.80A>T	c.(79-81)GAG>GTG	p.E27V	PLD3_uc002onj.3_Missense_Mutation_p.E27V|PLD3_uc002onk.3_Missense_Mutation_p.E27V|PLD3_uc002onl.3_Missense_Mutation_p.E27V|PLD3_uc002onn.2_Missense_Mutation_p.E27V|PLD3_uc002ono.2_Missense_Mutation_p.E27V	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	27	Cytoplasmic (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)															---	---	---	---	capture		Missense_Mutation	SNP	40872569	40872569	12473	19	A	T	T	11	11	PLD3	T	4	4
CYP2A6	1548	broad.mit.edu	37	19	41351983	41351983	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41351983G>A	uc002opl.3	-	6	872	c.851C>T	c.(850-852)ACG>ATG	p.T284M	CYP2A6_uc010ehe.1_Missense_Mutation_p.T80M|CYP2A6_uc010ehf.1_RNA	NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	284					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)													---	---	---	---	capture		Missense_Mutation	SNP	41351983	41351983	4327	19	G	A	A	40	40	CYP2A6	A	1	1
TMEM91	641649	broad.mit.edu	37	19	41888702	41888702	+	Nonsense_Mutation	SNP	C	A	A	rs140231326	by1000genomes	TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41888702C>A	uc002oqk.3	+	3	587	c.236C>A	c.(235-237)TCG>TAG	p.S79*	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Nonsense_Mutation_p.S79*|TMEM91_uc010ehq.2_Nonsense_Mutation_p.S79*|TMEM91_uc002oql.2_Nonsense_Mutation_p.S79*|TMEM91_uc010ehr.2_Nonsense_Mutation_p.S79*|TMEM91_uc010ehs.2_Nonsense_Mutation_p.S79*|TMEM91_uc010eht.2_Nonsense_Mutation_p.S79*|BCKDHA_uc002oqm.3_Intron|TMEM91_uc002oqn.2_Nonsense_Mutation_p.S79*	NM_001098821	NP_001092291	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91 isoform a	79					response to biotic stimulus	integral to membrane					0																		---	---	---	---	capture		Nonsense_Mutation	SNP	41888702	41888702	16760	19	C	A	A	31	31	TMEM91	A	5	1
B3GNT8	374907	broad.mit.edu	37	19	41932031	41932031	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41932031G>C	uc002oqs.2	-	3	1107	c.653C>G	c.(652-654)CCA>CGA	p.P218R	CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal	218	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	41932031	41932031	1284	19	G	C	C	47	47	B3GNT8	C	3	3
PSG2	5670	broad.mit.edu	37	19	43575959	43575959	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43575959A>T	uc002ovr.2	-	4	950	c.857T>A	c.(856-858)CTG>CAG	p.L286Q	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.L286Q|PSG2_uc010eiq.1_Missense_Mutation_p.L286Q|PSG2_uc002ovs.3_Missense_Mutation_p.L286Q|PSG2_uc002ovt.3_Missense_Mutation_p.L286Q	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	286	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)																---	---	---	---	capture		Missense_Mutation	SNP	43575959	43575959	13108	19	A	T	T	7	7	PSG2	T	4	4
ZNF283	284349	broad.mit.edu	37	19	44351910	44351910	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44351910G>T	uc002oxr.3	+	7	1425	c.1157G>T	c.(1156-1158)TGG>TTG	p.W386L	ZNF283_uc002oxp.3_Missense_Mutation_p.W247L	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	386	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)																---	---	---	---	capture		Missense_Mutation	SNP	44351910	44351910	18412	19	G	T	T	47	47	ZNF283	T	2	2
ZNF225	7768	broad.mit.edu	37	19	44622462	44622462	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44622462C>A	uc002oyj.1	+	3	380	c.137C>A	c.(136-138)TCA>TAA	p.S46*	ZNF225_uc010eje.1_5'UTR|ZNF225_uc010ejf.1_Nonsense_Mutation_p.S46*	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)																---	---	---	---	capture		Nonsense_Mutation	SNP	44622462	44622462	18370	19	C	A	A	29	29	ZNF225	A	5	2
ZNF235	9310	broad.mit.edu	37	19	44803816	44803816	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44803816G>T	uc002oza.3	-	3	188	c.85C>A	c.(85-87)CAG>AAG	p.Q29K	ZNF235_uc002oyx.1_RNA|ZNF235_uc010eji.2_Missense_Mutation_p.Q29K|ZNF235_uc002ozb.3_Missense_Mutation_p.Q29K|ZNF235_uc010xwx.1_5'UTR	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)																---	---	---	---	capture		Missense_Mutation	SNP	44803816	44803816	18379	19	G	T	T	47	47	ZNF235	T	2	2
FBXO46	23403	broad.mit.edu	37	19	46216674	46216674	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46216674G>T	uc002pcy.2	-	2	205	c.80C>A	c.(79-81)CCG>CAG	p.P27Q	FBXO46_uc002pcz.2_Missense_Mutation_p.P27Q	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	27							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)														---	---	---	---	capture		Missense_Mutation	SNP	46216674	46216674	5992	19	G	T	T	39	39	FBXO46	T	1	1
IGFL3	388555	broad.mit.edu	37	19	46627192	46627192	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46627192C>A	uc002pea.1	-	3	326	c.301G>T	c.(301-303)GGT>TGT	p.G101C		NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3 precursor	101						extracellular region	protein binding				0		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)														---	---	---	---	capture		Missense_Mutation	SNP	46627192	46627192	7889	19	C	A	A	22	22	IGFL3	A	2	2
CARD8	22900	broad.mit.edu	37	19	48722209	48722209	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48722209C>A	uc002pie.3	-	8	1217	c.904G>T	c.(904-906)GGG>TGG	p.G302W	CARD8_uc002pii.3_Intron|CARD8_uc002pid.1_RNA|CARD8_uc010xzi.1_Missense_Mutation_p.G303W|CARD8_uc010els.2_Intron|CARD8_uc010xzj.1_Missense_Mutation_p.G408W|CARD8_uc010xzk.1_Missense_Mutation_p.G327W|CARD8_uc002pif.3_Intron|CARD8_uc002pig.3_Missense_Mutation_p.G133W|CARD8_uc002pih.3_Missense_Mutation_p.G358W|CARD8_uc010xzl.1_Missense_Mutation_p.G358W|CARD8_uc010xzm.1_Intron	NM_014959	NP_055774	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	302					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity				0		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)														---	---	---	---	capture		Missense_Mutation	SNP	48722209	48722209	2770	19	C	A	A	21	21	CARD8	A	2	2
PPFIA3	8541	broad.mit.edu	37	19	49651375	49651375	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49651375G>T	uc002pmr.2	+	24	3203	c.2871G>T	c.(2869-2871)GTG>GTT	p.V957V	PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Silent_p.V816V|PPFIA3_uc002pmt.2_Silent_p.V96V|PPFIA3_uc002pmu.1_Silent_p.V6V	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	957	SAM 2.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)														---	---	---	---	capture		Silent	SNP	49651375	49651375	12741	19	G	T	T	47	47	PPFIA3	T	2	2
ZNF600	162966	broad.mit.edu	37	19	53270591	53270591	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53270591C>A	uc002qab.3	-	3	704	c.418G>T	c.(418-420)GGG>TGG	p.G140W		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)														---	---	---	---	capture		Missense_Mutation	SNP	53270591	53270591	18625	19	C	A	A	21	21	ZNF600	A	2	2
VSTM1	284415	broad.mit.edu	37	19	54545432	54545432	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54545432G>T	uc002qcw.3	-	6	682	c.506C>A	c.(505-507)TCC>TAC	p.S169Y	VSTM1_uc010erb.2_Intron|VSTM1_uc002qcx.3_Missense_Mutation_p.S138Y	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	169						integral to membrane					0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)														---	---	---	---	capture		Missense_Mutation	SNP	54545432	54545432	17796	19	G	T	T	41	41	VSTM1	T	2	2
KIR2DS4	3809	broad.mit.edu	37	19	55349150	55349150	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55349150G>T	uc002qhm.1	+	3	236	c.190G>T	c.(190-192)GGG>TGG	p.G64W	KIR2DS4_uc010yfj.1_Missense_Mutation_p.G57W|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.G64W|KIR2DS4_uc002qhn.1_Missense_Mutation_p.G11W	NM_012314	NP_036446	P43632	KI2S4_HUMAN	killer cell immunoglobulin-like receptor, two	64	Extracellular (Potential).|Ig-like C2-type 1.					integral to plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)														---	---	---	---	capture		Missense_Mutation	SNP	55349150	55349150	8631	19	G	T	T	43	43	KIR2DS4	T	2	2
NLRP9	338321	broad.mit.edu	37	19	56249550	56249550	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56249550G>T	uc002qly.2	-	1	219	c.191C>A	c.(190-192)CCA>CAA	p.P64Q		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	64	DAPIN.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)														---	---	---	---	capture		Missense_Mutation	SNP	56249550	56249550	10887	19	G	T	T	47	47	NLRP9	T	2	2
NLRP13	126204	broad.mit.edu	37	19	56436016	56436016	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56436016G>T	uc010ygg.1	-	3	422	c.397C>A	c.(397-399)CAG>AAG	p.Q133K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	133							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)														---	---	---	---	capture		Missense_Mutation	SNP	56436016	56436016	10878	19	G	T	T	46	46	NLRP13	T	2	2
ZNF749	388567	broad.mit.edu	37	19	57956622	57956622	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57956622G>T	uc002qoq.2	+	3	2360	c.2106G>T	c.(2104-2106)AGG>AGT	p.R702S	ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	702	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)														---	---	---	---	capture		Missense_Mutation	SNP	57956622	57956622	18729	19	G	T	T	43	43	ZNF749	T	2	2
ZNF134	7693	broad.mit.edu	37	19	58132703	58132703	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58132703G>T	uc002qpn.2	+	3	1315	c.1216G>T	c.(1216-1218)GGG>TGG	p.G406W	ZNF134_uc002qpo.2_Missense_Mutation_p.G233W|ZNF211_uc010yhb.1_5'UTR	NM_003435	NP_003426	P52741	ZN134_HUMAN	zinc finger protein 134	406	C2H2-type 11.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)														---	---	---	---	capture		Missense_Mutation	SNP	58132703	58132703	18315	19	G	T	T	47	47	ZNF134	T	2	2
ZNF256	10172	broad.mit.edu	37	19	58453918	58453918	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58453918G>T	uc002qqu.2	-	3	493	c.258C>A	c.(256-258)CCC>CCA	p.P86P	ZNF256_uc010euj.2_5'UTR	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	86	KRAB.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)														---	---	---	---	capture		Silent	SNP	58453918	58453918	18390	19	G	T	T	43	43	ZNF256	T	2	2
ZNF329	79673	broad.mit.edu	37	19	58639458	58639458	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58639458G>T	uc002qrn.2	-	4	1650	c.1413C>A	c.(1411-1413)ACC>ACA	p.T471T	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	471	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)														---	---	---	---	capture		Silent	SNP	58639458	58639458	18439	19	G	T	T	47	47	ZNF329	T	2	2
APOB	338	broad.mit.edu	37	2	21228607	21228607	+	Silent	SNP	G	C	C			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21228607G>C	uc002red.2	-	26	11261	c.11133C>G	c.(11131-11133)ACC>ACG	p.T3711T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3711					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---	capture		Silent	SNP	21228607	21228607	796	2	G	C	C	47	47	APOB	C	3	3
CAD	790	broad.mit.edu	37	2	27447965	27447965	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27447965G>T	uc002rji.2	+	11	1636	c.1474G>T	c.(1474-1476)GGG>TGG	p.G492W	CAD_uc010eyw.2_Missense_Mutation_p.G492W	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	492	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	27447965	27447965	2681	2	G	T	T	39	39	CAD	T	1	1
BIRC6	57448	broad.mit.edu	37	2	32773032	32773032	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32773032C>T	uc010ezu.2	+	64	13060	c.12926C>T	c.(12925-12927)GCC>GTC	p.A4309V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4309					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	32773032	32773032	1463	2	C	T	T	26	26	BIRC6	T	2	2
EPAS1	2034	broad.mit.edu	37	2	46574062	46574062	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:46574062G>T	uc002ruv.2	+	2	565	c.77G>T	c.(76-78)CGG>CTG	p.R26L		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	26	Basic motif.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---	capture		Missense_Mutation	SNP	46574062	46574062	5343	2	G	T	T	39	39	EPAS1	T	1	1
CNRIP1	25927	broad.mit.edu	37	2	68521097	68521097	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:68521097C>A	uc002sek.3	-	3	1043	c.392G>T	c.(391-393)CGG>CTG	p.R131L	CNRIP1_uc002sej.3_Intron|CNRIP1_uc002sem.1_RNA|CNRIP1_uc002sel.3_RNA	NM_015463	NP_056278	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	131							protein binding			liver(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	68521097	68521097	3771	2	C	A	A	23	23	CNRIP1	A	1	1
ADD2	119	broad.mit.edu	37	2	70931544	70931544	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70931544C>A	uc002sgz.2	-	4	696	c.231G>T	c.(229-231)AAG>AAT	p.K77N	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.K77N|ADD2_uc002sha.2_Missense_Mutation_p.K77N|ADD2_uc002sgx.2_Missense_Mutation_p.K77N|ADD2_uc010fdt.1_Missense_Mutation_p.K77N|ADD2_uc002shc.1_Missense_Mutation_p.K77N|ADD2_uc002shd.1_Missense_Mutation_p.K77N|ADD2_uc010fdu.1_Missense_Mutation_p.K93N	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	77					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	70931544	70931544	306	2	C	A	A	24	24	ADD2	A	2	2
KDM3A	55818	broad.mit.edu	37	2	86705771	86705771	+	Silent	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86705771G>A	uc002sri.3	+	15	2556	c.2229G>A	c.(2227-2229)GCG>GCA	p.A743A	KDM3A_uc010ytj.1_Silent_p.A743A|KDM3A_uc010ytk.1_Silent_p.A691A	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	743					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---	capture		Silent	SNP	86705771	86705771	8432	2	G	A	A	37	37	KDM3A	A	1	1
THNSL2	55258	broad.mit.edu	37	2	88474776	88474776	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88474776G>T	uc002ssz.3	+	4	580	c.427G>T	c.(427-429)GGG>TGG	p.G143W	THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Missense_Mutation_p.G143W|THNSL2_uc002ssx.3_Missense_Mutation_p.G111W|THNSL2_uc002sta.3_5'UTR|THNSL2_uc002ssy.3_Missense_Mutation_p.G143W|THNSL2_uc010fhe.2_5'UTR	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	143					threonine biosynthetic process		threonine synthase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	88474776	88474776	16391	2	G	T	T	47	47	THNSL2	T	2	2
CKAP2L	150468	broad.mit.edu	37	2	113498469	113498469	+	Silent	SNP	C	G	G			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113498469C>G	uc002tie.2	-	8	2017	c.1938G>C	c.(1936-1938)ACG>ACC	p.T646T	CKAP2L_uc002tif.2_Silent_p.T235T|CKAP2L_uc010yxp.1_Silent_p.T481T|uc002tid.2_Intron	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	646						centrosome					0																		---	---	---	---	capture		Silent	SNP	113498469	113498469	3579	2	C	G	G	23	23	CKAP2L	G	3	3
CCDC93	54520	broad.mit.edu	37	2	118693132	118693132	+	Missense_Mutation	SNP	C	A	A	rs138708100		TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:118693132C>A	uc002tlj.2	-	22	1793	c.1667G>T	c.(1666-1668)CGG>CTG	p.R556L		NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	556										large_intestine(1)|ovary(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	118693132	118693132	2997	2	C	A	A	23	23	CCDC93	A	1	1
CNTNAP5	129684	broad.mit.edu	37	2	125547480	125547480	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:125547480G>T	uc002tno.2	+	18	3115	c.2751G>T	c.(2749-2751)GGG>GGT	p.G917G	CNTNAP5_uc010flu.2_Silent_p.G918G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	917	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)														---	---	---	---	capture		Silent	SNP	125547480	125547480	3788	2	G	T	T	43	43	CNTNAP5	T	2	2
MYO7B	4648	broad.mit.edu	37	2	128377914	128377914	+	Splice_Site	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128377914G>T	uc002top.2	+	26	3374	c.3321_splice	c.e26-1	p.R1107_splice	MYO7B_uc002toq.1_Splice_Site|MYO7B_uc002tor.1_Translation_Start_Site	NM_001080527	NP_001073996			myosin VIIB							apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)														---	---	---	---	capture		Splice_Site	SNP	128377914	128377914	10478	2	G	T	T	35	35	MYO7B	T	5	2
CCDC74A	90557	broad.mit.edu	37	2	132288338	132288338	+	Missense_Mutation	SNP	G	A	A	rs140463466	byFrequency	TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:132288338G>A	uc002tta.2	+	3	534	c.482G>A	c.(481-483)CGC>CAC	p.R161H	CCDC74A_uc002ttb.2_Intron	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	161										skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	132288338	132288338	2970	2	G	A	A	38	38	CCDC74A	A	1	1
SCN7A	6332	broad.mit.edu	37	2	167319016	167319016	+	Silent	SNP	A	G	G			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:167319016A>G	uc002udu.1	-	9	1093	c.966T>C	c.(964-966)TGT>TGC	p.C322C	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	322					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1																		---	---	---	---	capture		Silent	SNP	167319016	167319016	14405	2	A	G	G	6	6	SCN7A	G	4	4
LRP2	4036	broad.mit.edu	37	2	170009390	170009390	+	Missense_Mutation	SNP	C	T	T	rs142934522	byFrequency	TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170009390C>T	uc002ues.2	-	67	12593	c.12380G>A	c.(12379-12381)CGC>CAC	p.R4127H		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4127	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	170009390	170009390	9329	2	C	T	T	27	27	LRP2	T	1	1
SLC25A12	8604	broad.mit.edu	37	2	172700882	172700882	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:172700882G>T	uc002uhh.2	-	5	551	c.462C>A	c.(460-462)CTC>CTA	p.L154L	SLC25A12_uc010fqh.2_Silent_p.L47L|SLC25A12_uc010zdv.1_RNA	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25, member 12	154	EF-hand 3.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)													---	---	---	---	capture		Silent	SNP	172700882	172700882	14971	2	G	T	T	41	41	SLC25A12	T	2	2
TTN	7273	broad.mit.edu	37	2	179579055	179579055	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179579055C>A	uc010zfg.1	-	88	22938	c.22714G>T	c.(22714-22716)GGG>TGG	p.G7572W	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4233W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8499							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	179579055	179579055	17290	2	C	A	A	21	21	TTN	A	2	2
COL5A2	1290	broad.mit.edu	37	2	189927746	189927746	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189927746G>T	uc002uqk.2	-	28	2188	c.1913C>A	c.(1912-1914)CCT>CAT	p.P638H	COL5A2_uc010frx.2_Missense_Mutation_p.P214H	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	638					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)															---	---	---	---	capture		Missense_Mutation	SNP	189927746	189927746	3835	2	G	T	T	35	35	COL5A2	T	2	2
RFTN2	130132	broad.mit.edu	37	2	198498590	198498590	+	Silent	SNP	T	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198498590T>A	uc002uuo.3	-	4	972	c.570A>T	c.(568-570)TCA>TCT	p.S190S		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	190						plasma membrane					0																		---	---	---	---	capture		Silent	SNP	198498590	198498590	13731	2	T	A	A	55	55	RFTN2	A	4	4
ALS2	57679	broad.mit.edu	37	2	202625741	202625741	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202625741C>A	uc002uyo.2	-	4	1332	c.976G>T	c.(976-978)GGA>TGA	p.G326*	ALS2_uc002uyp.3_Nonsense_Mutation_p.G326*|ALS2_uc002uyq.2_Nonsense_Mutation_p.G326*|ALS2_uc002uyr.2_Nonsense_Mutation_p.G326*	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	326					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7																		---	---	---	---	capture		Nonsense_Mutation	SNP	202625741	202625741	553	2	C	A	A	22	22	ALS2	A	5	2
VIL1	7429	broad.mit.edu	37	2	219296605	219296605	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219296605T>A	uc002via.2	+	11	1193	c.1128T>A	c.(1126-1128)GAT>GAA	p.D376E	VIL1_uc010zke.1_Missense_Mutation_p.D65E|VIL1_uc002vib.2_Missense_Mutation_p.D376E	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	376	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---	capture		Missense_Mutation	SNP	219296605	219296605	17731	2	T	A	A	51	51	VIL1	A	4	4
USP37	57695	broad.mit.edu	37	2	219328034	219328034	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219328034A>C	uc002vie.2	-	22	2975	c.2522T>G	c.(2521-2523)CTT>CGT	p.L841R	USP37_uc010fvs.1_Missense_Mutation_p.L841R|USP37_uc010zkf.1_Missense_Mutation_p.L841R|USP37_uc002vif.2_Missense_Mutation_p.L841R|USP37_uc002vig.2_Missense_Mutation_p.L747R	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	841	UIM 3.				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)														---	---	---	---	capture		Missense_Mutation	SNP	219328034	219328034	17632	2	A	C	C	3	3	USP37	C	4	4
ZFAND2B	130617	broad.mit.edu	37	2	220072369	220072369	+	Splice_Site	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220072369G>T	uc002vka.2	+	3	323	c.151_splice	c.e3-1	p.D51_splice	ZFAND2B_uc010zkt.1_Splice_Site_p.D51_splice|ZFAND2B_uc010fwd.1_Splice_Site_p.D51_splice|ZFAND2B_uc002vjy.1_Splice_Site_p.D51_splice|ZFAND2B_uc002vjz.1_Splice_Site_p.D51_splice|ZFAND2B_uc002vkb.1_Splice_Site	NM_138802	NP_620157			zinc finger, AN1-type domain 2B							endoplasmic reticulum	protein binding|zinc ion binding				0		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---	capture		Splice_Site	SNP	220072369	220072369	18216	2	G	T	T	35	35	ZFAND2B	T	5	2
SPHKAP	80309	broad.mit.edu	37	2	228882928	228882928	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228882928G>T	uc002vpq.2	-	7	2689	c.2642C>A	c.(2641-2643)CCA>CAA	p.P881Q	SPHKAP_uc002vpp.2_Missense_Mutation_p.P881Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.P881Q	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	881						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)														---	---	---	---	capture		Missense_Mutation	SNP	228882928	228882928	15560	2	G	T	T	47	47	SPHKAP	T	2	2
TRPM8	79054	broad.mit.edu	37	2	234878421	234878421	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234878421C>A	uc002vvh.2	+	16	2148	c.2108C>A	c.(2107-2109)CCC>CAC	p.P703H	TRPM8_uc010fyj.2_Intron	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	703	Helical; Name=1; (Potential).					integral to membrane				skin(4)	4		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)													---	---	---	---	capture		Missense_Mutation	SNP	234878421	234878421	17143	2	C	A	A	22	22	TRPM8	A	2	2
SLC4A11	83959	broad.mit.edu	37	20	3211213	3211213	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3211213G>T	uc002wig.2	-	11	1459	c.1411C>A	c.(1411-1413)CTT>ATT	p.L471I	SLC4A11_uc010zqe.1_Missense_Mutation_p.L498I|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.L455I	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	471	Helical; (Potential).|Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	3211213	3211213	15149	20	G	T	T	35	35	SLC4A11	T	2	2
RALGAPA2	57186	broad.mit.edu	37	20	20505105	20505105	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20505105G>A	uc002wrz.2	-	30	3988	c.3845C>T	c.(3844-3846)GCA>GTA	p.A1282V	RALGAPA2_uc010gcx.2_Missense_Mutation_p.A986V|RALGAPA2_uc010zsg.1_Missense_Mutation_p.A730V|RALGAPA2_uc002wsa.1_Missense_Mutation_p.A54V	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1282					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	20505105	20505105	13474	20	G	A	A	46	46	RALGAPA2	A	2	2
ZNF831	128611	broad.mit.edu	37	20	57829592	57829592	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57829592A>T	uc002yan.2	+	5	4828	c.4828A>T	c.(4828-4830)AGT>TGT	p.S1610C		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1610						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)																	---	---	---	---	capture		Missense_Mutation	SNP	57829592	57829592	18784	20	A	T	T	3	3	ZNF831	T	4	4
SMARCB1	6598	broad.mit.edu	37	22	24143167	24143167	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24143167C>A	uc002zyb.2	+	4	606	c.399C>A	c.(397-399)CCC>CCA	p.P133P	SMARCB1_uc002zyg.2_Silent_p.P133P|SMARCB1_uc011ajb.1_Silent_p.P124P|SMARCB1_uc002zya.2_Silent_p.P133P|SMARCB1_uc002zyc.2_Silent_p.P124P|SMARCB1_uc002zyd.2_Silent_p.P124P|SMARCB1_uc002zye.1_Intron|SMARCB1_uc002zyf.1_Intron|SMARCB1_uc010gue.1_Intron	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	133	DNA-binding (Potential).				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(5)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)						D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				---	---	---	---	capture		Silent	SNP	24143167	24143167	15272	22	C	A	A	21	21	SMARCB1	A	2	2
SLC5A4	6527	broad.mit.edu	37	22	32620394	32620394	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32620394C>A	uc003ami.2	-	13	1527	c.1525G>T	c.(1525-1527)GGG>TGG	p.G509W		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	509	Extracellular (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	32620394	32620394	15164	22	C	A	A	24	24	SLC5A4	A	2	2
MYH9	4627	broad.mit.edu	37	22	36698708	36698708	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36698708C>A	uc003apg.2	-	20	2636	c.2405G>T	c.(2404-2406)CGG>CTG	p.R802L	MYH9_uc003aph.1_Missense_Mutation_p.R666L	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	802	IQ.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11								T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				---	---	---	---	capture		Missense_Mutation	SNP	36698708	36698708	10437	22	C	A	A	23	23	MYH9	A	1	1
PDGFB	5155	broad.mit.edu	37	22	39631864	39631864	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39631864C>A	uc003axf.2	-	2	1068	c.79G>T	c.(79-81)GAG>TAG	p.E27*	PDGFB_uc003axe.2_Nonsense_Mutation_p.E12*	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	27					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)			T	COL1A1	DFSP								---	---	---	---	capture		Nonsense_Mutation	SNP	39631864	39631864	12079	22	C	A	A	31	31	PDGFB	A	5	1
PMM1	5372	broad.mit.edu	37	22	41980049	41980049	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41980049C>A	uc003bal.2	-	5	450	c.388G>T	c.(388-390)GAG>TAG	p.E130*		NM_002676	NP_002667	Q92871	PMM1_HUMAN	phosphomannomutase 1	130					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	41980049	41980049	12562	22	C	A	A	31	31	PMM1	A	5	1
NDUFA6	4700	broad.mit.edu	37	22	42483092	42483092	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42483092G>T	uc003bcb.2	-	2	367	c.305C>A	c.(304-306)CCC>CAC	p.P102H		NM_002490	NP_002481	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	102					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	42483092	42483092	10668	22	G	T	T	43	43	NDUFA6	T	2	2
TTLL12	23170	broad.mit.edu	37	22	43575988	43575988	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43575988G>A	uc003bdq.2	-	4	597	c.565C>T	c.(565-567)CCG>TCG	p.P189S	TTLL12_uc003bdr.1_Missense_Mutation_p.P189S	NM_015140	NP_055955	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	189					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)	1		Ovarian(80;0.221)|Glioma(61;0.222)																---	---	---	---	capture		Missense_Mutation	SNP	43575988	43575988	17280	22	G	A	A	42	42	TTLL12	A	2	2
PARVG	64098	broad.mit.edu	37	22	44583692	44583692	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:44583692G>T	uc011aqe.1	+	5	605	c.181G>T	c.(181-183)GAG>TAG	p.E61*	PARVG_uc010gzo.2_3'UTR|PARVG_uc010gzp.2_RNA|PARVG_uc003bep.2_Nonsense_Mutation_p.E61*|PARVG_uc010gzr.1_RNA|PARVG_uc011aqf.1_Nonsense_Mutation_p.E61*|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN	parvin, gamma	61	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding				0		Ovarian(80;0.024)|all_neural(38;0.0299)																---	---	---	---	capture		Nonsense_Mutation	SNP	44583692	44583692	11887	22	G	T	T	37	37	PARVG	T	5	1
FAM118A	55007	broad.mit.edu	37	22	45728498	45728498	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45728498G>T	uc003bfz.3	+	7	1460	c.844G>T	c.(844-846)GGA>TGA	p.G282*	FAM118A_uc003bga.3_Nonsense_Mutation_p.G282*|FAM118A_uc011aqr.1_Nonsense_Mutation_p.G100*	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	282						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)														---	---	---	---	capture		Nonsense_Mutation	SNP	45728498	45728498	5608	22	G	T	T	39	39	FAM118A	T	5	1
PKDREJ	10343	broad.mit.edu	37	22	46652800	46652800	+	Silent	SNP	T	C	C			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46652800T>C	uc003bhh.2	-	1	6420	c.6420A>G	c.(6418-6420)GAA>GAG	p.E2140E		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	2140	Extracellular (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)														---	---	---	---	capture		Silent	SNP	46652800	46652800	12395	22	T	C	C	52	52	PKDREJ	C	4	4
PIM3	415116	broad.mit.edu	37	22	50356382	50356382	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50356382A>G	uc003bjb.2	+	5	1115	c.662A>G	c.(661-663)TAC>TGC	p.Y221C	PIM3_uc011arj.1_5'UTR	NM_001001852	NP_001001852	Q86V86	PIM3_HUMAN	serine/threonine protein kinase pim-3	221	Protein kinase.				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---	capture		Missense_Mutation	SNP	50356382	50356382	12353	22	A	G	G	14	14	PIM3	G	4	4
IRAK2	3656	broad.mit.edu	37	3	10242095	10242095	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10242095C>A	uc003bve.1	+	3	396	c.320C>A	c.(319-321)CCT>CAT	p.P107H		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	107					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8																		---	---	---	---	capture		Missense_Mutation	SNP	10242095	10242095	8126	3	C	A	A	24	24	IRAK2	A	2	2
CTNNB1	1499	broad.mit.edu	37	3	41275157	41275157	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:41275157G>T	uc010hia.1	+	10	1479	c.1323G>T	c.(1321-1323)GTG>GTT	p.V441V	CTNNB1_uc003ckp.2_Silent_p.V441V|CTNNB1_uc003ckq.2_Silent_p.V441V|CTNNB1_uc003ckr.2_Silent_p.V441V|CTNNB1_uc011azf.1_Silent_p.V434V|CTNNB1_uc011azg.1_Silent_p.V369V|CTNNB1_uc003cks.2_Silent_p.V44V|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	441	ARM 7.				adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				---	---	---	---	capture		Silent	SNP	41275157	41275157	4175	3	G	T	T	47	47	CTNNB1	T	2	2
DNAH1	25981	broad.mit.edu	37	3	52417939	52417939	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52417939C>A	uc011bef.1	+	52	8475	c.8214C>A	c.(8212-8214)ACC>ACA	p.T2738T	DNAH1_uc003ddv.2_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2738	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---	capture		Silent	SNP	52417939	52417939	4779	3	C	A	A	21	21	DNAH1	A	2	2
ITIH3	3699	broad.mit.edu	37	3	52833895	52833895	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52833895C>A	uc003dfv.2	+	9	1069	c.1033C>A	c.(1033-1035)CAG>AAG	p.Q345K	ITIH3_uc011bek.1_Missense_Mutation_p.Q345K	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	345	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)														---	---	---	---	capture		Missense_Mutation	SNP	52833895	52833895	8209	3	C	A	A	21	21	ITIH3	A	2	2
CACNA2D3	55799	broad.mit.edu	37	3	54661821	54661821	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:54661821G>T	uc003dhf.2	+	10	1019	c.971G>T	c.(970-972)AGG>ATG	p.R324M	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.R230M|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.R58M	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	324	Extracellular (Potential).|VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)														---	---	---	---	capture		Missense_Mutation	SNP	54661821	54661821	2666	3	G	T	T	35	35	CACNA2D3	T	2	2
HCLS1	3059	broad.mit.edu	37	3	121363748	121363748	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121363748C>A	uc003eeh.3	-	5	441	c.316G>T	c.(316-318)GAG>TAG	p.E106*	HCLS1_uc011bjj.1_Nonsense_Mutation_p.E106*|HCLS1_uc011bjk.1_RNA|HCLS1_uc011bjl.1_Nonsense_Mutation_p.E106*	NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	106	Cortactin 1.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(114;0.0912)														---	---	---	---	capture		Nonsense_Mutation	SNP	121363748	121363748	7277	3	C	A	A	31	31	HCLS1	A	5	1
SLC15A2	6565	broad.mit.edu	37	3	121631906	121631906	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121631906G>T	uc003eep.2	+	5	620	c.467G>T	c.(466-468)GGG>GTG	p.G156V	SLC15A2_uc011bjn.1_Missense_Mutation_p.G125V	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	156	Helical; (Potential).				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)													---	---	---	---	capture		Missense_Mutation	SNP	121631906	121631906	14894	3	G	T	T	43	43	SLC15A2	T	2	2
PIK3CA	5290	broad.mit.edu	37	3	178927980	178927980	+	Missense_Mutation	SNP	T	C	C	rs121913272		TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178927980T>C	uc003fjk.2	+	8	1415	c.1258T>C	c.(1258-1260)TGT>CGT	p.C420R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	420	C2 PI3K-type.		C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C420R(26)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			C420R(EFM192A_BREAST)|C420R(OVISE_OVARY)|C420R(HEC151_ENDOMETRIUM)|C420R(CCK81_LARGE_INTESTINE)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---	capture		Missense_Mutation	SNP	178927980	178927980	12337	3	T	C	C	55	55	PIK3CA	C	4	4
YEATS2	55689	broad.mit.edu	37	3	183495410	183495410	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183495410G>T	uc003fly.2	+	19	2853	c.2658G>T	c.(2656-2658)CTG>CTT	p.L886L	YEATS2_uc003flz.2_5'UTR	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	886					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---	capture		Silent	SNP	183495410	183495410	18055	3	G	T	T	47	47	YEATS2	T	2	2
EIF2B5	8893	broad.mit.edu	37	3	183858330	183858330	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183858330C>A	uc003fmp.2	+	7	1332	c.968C>A	c.(967-969)CCA>CAA	p.P323Q	EIF2B5_uc003fmq.2_Missense_Mutation_p.P44Q|EIF2B5_uc003fmr.2_5'Flank	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	323					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)															---	---	---	---	capture		Missense_Mutation	SNP	183858330	183858330	5193	3	C	A	A	21	21	EIF2B5	A	2	2
ECE2	9718	broad.mit.edu	37	3	183995720	183995720	+	Silent	SNP	C	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183995720C>T	uc003fni.3	+	5	878	c.840C>T	c.(838-840)ACC>ACT	p.T280T	ECE2_uc011brg.1_Silent_p.T208T|ECE2_uc011brh.1_Silent_p.T133T|ECE2_uc003fnl.3_Silent_p.T208T|ECE2_uc003fnm.3_Silent_p.T162T|ECE2_uc003fnk.3_Silent_p.T133T|ECE2_uc011bri.1_Silent_p.T195T|ECE2_uc010hxv.2_5'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	280	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---	capture		Silent	SNP	183995720	183995720	5077	3	C	T	T	21	21	ECE2	T	2	2
POLR2H	5437	broad.mit.edu	37	3	184086008	184086008	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184086008G>T	uc003fok.1	+	5	466	c.379G>T	c.(379-381)GGG>TGG	p.G127W	POLR2H_uc003foj.1_RNA	NM_006232	NP_006223	P52434	RPAB3_HUMAN	RNA polymerase II, polypeptide H	127					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---	capture		Missense_Mutation	SNP	184086008	184086008	12649	3	G	T	T	43	43	POLR2H	T	2	2
SH3BP2	6452	broad.mit.edu	37	4	2822396	2822396	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2822396C>A	uc003gfi.3	+	2	172	c.52C>A	c.(52-54)CAG>AAG	p.Q18K	SH3BP2_uc010icn.2_Missense_Mutation_p.Q18K|SH3BP2_uc011bvp.1_Missense_Mutation_p.Q46K|SH3BP2_uc003gfj.3_Missense_Mutation_p.Q75K|SH3BP2_uc003gfk.3_Missense_Mutation_p.Q18K|SH3BP2_uc003gfl.3_5'UTR	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a	18					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)										Cherubism				---	---	---	---	capture		Missense_Mutation	SNP	2822396	2822396	14736	4	C	A	A	21	21	SH3BP2	A	2	2
SLIT2	9353	broad.mit.edu	37	4	20598114	20598114	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20598114G>T	uc003gpr.1	+	32	3601	c.3397G>T	c.(3397-3399)GGA>TGA	p.G1133*	SLIT2_uc003gps.1_Nonsense_Mutation_p.G1125*	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1133	EGF-like 6.				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		Nonsense_Mutation	SNP	20598114	20598114	15238	4	G	T	T	47	47	SLIT2	T	5	2
OCIAD2	132299	broad.mit.edu	37	4	48899839	48899839	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48899839G>T	uc003gyt.2	-	4	402	c.199C>A	c.(199-201)CAG>AAG	p.Q67K	OCIAD2_uc003gyu.2_Missense_Mutation_p.Q67K	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2 isoform 1	67	OCIA.					endosome					0																		---	---	---	---	capture		Missense_Mutation	SNP	48899839	48899839	11223	4	G	T	T	47	47	OCIAD2	T	2	2
ENAM	10117	broad.mit.edu	37	4	71508884	71508884	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71508884G>T	uc011caw.1	+	9	2022	c.1741G>T	c.(1741-1743)GGG>TGG	p.G581W		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	581					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)															---	---	---	---	capture		Missense_Mutation	SNP	71508884	71508884	5305	4	G	T	T	35	35	ENAM	T	2	2
ENAM	10117	broad.mit.edu	37	4	71509219	71509219	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71509219C>A	uc011caw.1	+	9	2357	c.2076C>A	c.(2074-2076)ACC>ACA	p.T692T		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	692					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)															---	---	---	---	capture		Silent	SNP	71509219	71509219	5305	4	C	A	A	24	24	ENAM	A	2	2
PPEF2	5470	broad.mit.edu	37	4	76788552	76788552	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76788552G>T	uc003hix.2	-	14	2027	c.1670C>A	c.(1669-1671)TCG>TAG	p.S557*	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Nonsense_Mutation_p.S557*	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	557					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---	capture		Nonsense_Mutation	SNP	76788552	76788552	12738	4	G	T	T	37	37	PPEF2	T	5	1
ANKRD56	345079	broad.mit.edu	37	4	77816806	77816806	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77816806G>T	uc003hki.2	-	1	2197	c.2197C>A	c.(2197-2199)CCT>ACT	p.P733T		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	733											0																		---	---	---	---	capture		Missense_Mutation	SNP	77816806	77816806	690	4	G	T	T	43	43	ANKRD56	T	2	2
FAT4	79633	broad.mit.edu	37	4	126239230	126239230	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126239230G>T	uc003ifj.3	+	1	1664	c.1664G>T	c.(1663-1665)CGG>CTG	p.R555L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	555	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	126239230	126239230	5928	4	G	T	T	39	39	FAT4	T	1	1
EDNRA	1909	broad.mit.edu	37	4	148453804	148453804	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:148453804G>T	uc003iky.2	+	4	1387	c.695G>T	c.(694-696)AGG>ATG	p.R232M	EDNRA_uc011cid.1_Missense_Mutation_p.R7M|EDNRA_uc010ipe.1_3'UTR|EDNRA_uc010ipf.1_Intron|EDNRA_uc010ipg.1_Intron	NM_001957	NP_001948	P25101	EDNRA_HUMAN	endothelin receptor type A isoform a precursor	232	Extracellular (Potential).				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|breast(1)	2	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)													---	---	---	---	capture		Missense_Mutation	SNP	148453804	148453804	5106	4	G	T	T	35	35	EDNRA	T	2	2
KIAA0922	23240	broad.mit.edu	37	4	154525134	154525134	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154525134C>A	uc003inm.3	+	25	3019	c.2967C>A	c.(2965-2967)ACC>ACA	p.T989T	KIAA0922_uc010ipp.2_Silent_p.T990T|KIAA0922_uc010ipq.2_Silent_p.T758T	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	989	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)																---	---	---	---	capture		Silent	SNP	154525134	154525134	8508	4	C	A	A	21	21	KIAA0922	A	2	2
FNIP2	57600	broad.mit.edu	37	4	159782561	159782561	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159782561G>T	uc003iqe.3	+	11	1399	c.1216G>T	c.(1216-1218)GGC>TGC	p.G406C		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	406					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)														---	---	---	---	capture		Missense_Mutation	SNP	159782561	159782561	6218	4	G	T	T	39	39	FNIP2	T	1	1
HMGB2	3148	broad.mit.edu	37	4	174254762	174254762	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:174254762C>A	uc011ckc.1	-	1	159	c.39G>T	c.(37-39)ATG>ATT	p.M13I	HMGB2_uc003ita.3_Missense_Mutation_p.M13I|HMGB2_uc003itb.2_Missense_Mutation_p.M13I|HMGB2_uc003itc.2_Missense_Mutation_p.M13I	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN	high-mobility group box 2	13	HMG box 1.				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding				0		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)														---	---	---	---	capture		Missense_Mutation	SNP	174254762	174254762	7517	4	C	A	A	17	17	HMGB2	A	2	2
F11	2160	broad.mit.edu	37	4	187201417	187201417	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187201417G>T	uc003iza.1	+	9	1239	c.906G>T	c.(904-906)TTG>TTT	p.L302F		NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	302	Apple 4.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)													---	---	---	---	capture		Missense_Mutation	SNP	187201417	187201417	5531	4	G	T	T	47	47	F11	T	2	2
RNASEN	29102	broad.mit.edu	37	5	31526375	31526375	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31526375G>T	uc003jhg.2	-	4	1024	c.665C>A	c.(664-666)CCA>CAA	p.P222Q	RNASEN_uc003jhh.2_Missense_Mutation_p.P222Q|RNASEN_uc003jhi.2_Missense_Mutation_p.P222Q|RNASEN_uc010iui.1_Missense_Mutation_p.P213Q	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	222	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	31526375	31526375	13894	5	G	T	T	47	47	RNASEN	T	2	2
HEATR7B2	133558	broad.mit.edu	37	5	41055934	41055934	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41055934T>G	uc003jmj.3	-	10	1433	c.943A>C	c.(943-945)ATG>CTG	p.M315L	HEATR7B2_uc003jmi.3_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	315	HEAT 4.						binding			ovary(6)|central_nervous_system(2)	8																		---	---	---	---	capture		Missense_Mutation	SNP	41055934	41055934	7318	5	T	G	G	50	50	HEATR7B2	G	4	4
DHX29	54505	broad.mit.edu	37	5	54555722	54555722	+	Silent	SNP	A	G	G			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:54555722A>G	uc003jpx.2	-	26	4131	c.4011T>C	c.(4009-4011)GAT>GAC	p.D1337D	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1337							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)																---	---	---	---	capture		Silent	SNP	54555722	54555722	4682	5	A	G	G	4	4	DHX29	G	4	4
CAMK4	814	broad.mit.edu	37	5	110809031	110809031	+	Silent	SNP	T	C	C			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:110809031T>C	uc011cvj.1	+	9	747	c.648T>C	c.(646-648)TGT>TGC	p.C216C	CAMK4_uc003kpf.2_Silent_p.C216C|CAMK4_uc010jbv.2_Silent_p.C19C	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	216	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)														---	---	---	---	capture		Silent	SNP	110809031	110809031	2722	5	T	C	C	59	59	CAMK4	C	4	4
PCDHB16	57717	broad.mit.edu	37	5	140564336	140564336	+	Silent	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140564336G>A	uc003liv.2	+	1	3357	c.2202G>A	c.(2200-2202)GGG>GGA	p.G734G	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	734	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---	capture		Silent	SNP	140564336	140564336	11961	5	G	A	A	42	42	PCDHB16	A	2	2
PPARGC1B	133522	broad.mit.edu	37	5	149212301	149212301	+	Nonsense_Mutation	SNP	C	A	A	rs75266799	by1000genomes	TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149212301C>A	uc003lrc.2	+	5	707	c.665C>A	c.(664-666)TCG>TAG	p.S222*	PPARGC1B_uc003lrb.1_Nonsense_Mutation_p.S222*|PPARGC1B_uc003lrd.2_Nonsense_Mutation_p.S183*|PPARGC1B_uc003lrf.2_Nonsense_Mutation_p.S201*|PPARGC1B_uc003lre.1_Nonsense_Mutation_p.S201*	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	222					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)															---	---	---	---	capture		Nonsense_Mutation	SNP	149212301	149212301	12731	5	C	A	A	31	31	PPARGC1B	A	5	1
FAT2	2196	broad.mit.edu	37	5	150934188	150934188	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150934188C>A	uc003lue.3	-	4	3693	c.3680G>T	c.(3679-3681)AGG>ATG	p.R1227M	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1227	Extracellular (Potential).|Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---	capture		Missense_Mutation	SNP	150934188	150934188	5926	5	C	A	A	24	24	FAT2	A	2	2
RPL26L1	51121	broad.mit.edu	37	5	172386973	172386973	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:172386973C>A	uc003mcc.2	+	2	139	c.97C>A	c.(97-99)CCG>ACG	p.P33T	LOC100268168_uc011dfb.1_5'Flank|LOC100268168_uc011dfc.1_5'Flank	NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	33					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)															---	---	---	---	capture		Missense_Mutation	SNP	172386973	172386973	14053	5	C	A	A	22	22	RPL26L1	A	2	2
PRPF4B	8899	broad.mit.edu	37	6	4032475	4032475	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									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
DSP	1832	broad.mit.edu	37	6	7584770	7584770	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7584770C>A	uc003mxp.1	+	24	7554	c.7275C>A	c.(7273-7275)ACC>ACA	p.T2425T	DSP_uc003mxq.1_Silent_p.T1826T	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2425	Plectin 11.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---	capture		Silent	SNP	7584770	7584770	4965	6	C	A	A	24	24	DSP	A	2	2
C6orf105	84830	broad.mit.edu	37	6	11723606	11723606	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:11723606C>A	uc003nab.2	-	5	922	c.634G>T	c.(634-636)GAG>TAG	p.E212*	C6orf105_uc003naa.2_RNA|C6orf105_uc011dip.1_Nonsense_Mutation_p.E230*	NM_032744	NP_116133	Q96IZ2	CF105_HUMAN	hypothetical protein LOC84830 isoform 2	212						integral to membrane					0	Ovarian(93;0.0848)|Breast(50;0.0871)	all_hematologic(90;0.135)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.193)															---	---	---	---	capture		Nonsense_Mutation	SNP	11723606	11723606	2420	6	C	A	A	32	32	C6orf105	A	5	2
HIVEP1	3096	broad.mit.edu	37	6	12164614	12164614	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:12164614C>G	uc003nac.2	+	9	8256	c.8077C>G	c.(8077-8079)CTA>GTA	p.L2693V	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	2693					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)																---	---	---	---	capture		Missense_Mutation	SNP	12164614	12164614	7477	6	C	G	G	20	20	HIVEP1	G	3	3
LRRC16A	55604	broad.mit.edu	37	6	25600743	25600743	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25600743C>A	uc011djw.1	+	33	3697	c.3321C>A	c.(3319-3321)CCC>CCA	p.P1107P	LRRC16A_uc010jpx.2_Silent_p.P1107P|LRRC16A_uc010jpy.2_Silent_p.P1107P	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1107					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---	capture		Silent	SNP	25600743	25600743	9345	6	C	A	A	21	21	LRRC16A	A	2	2
OR12D2	26529	broad.mit.edu	37	6	29364649	29364649	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29364649A>T	uc003nmf.3	+	1	234	c.173A>T	c.(172-174)TAT>TTT	p.Y58F		NM_013936	NP_039224	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	29364649	29364649	11337	6	A	T	T	16	16	OR12D2	T	4	4
LTA	4049	broad.mit.edu	37	6	31541418	31541418	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31541418C>A	uc011dnu.1	+	4	779	c.566C>A	c.(565-567)CCC>CAC	p.P189H	LTA_uc003nue.1_Missense_Mutation_p.P189H|LTA_uc003nuf.2_Intron|LTA_uc003nuh.2_Intron|LTA_uc003nug.2_Silent_p.P98P|LTA_uc010jsr.2_RNA|TNF_uc003nui.2_5'Flank|TNF_uc003nuj.2_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	lymphotoxin alpha precursor	189					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0					Etanercept(DB00005)													---	---	---	---	capture		Missense_Mutation	SNP	31541418	31541418	9444	6	C	A	A	22	22	LTA	A	2	2
C6orf27	80737	broad.mit.edu	37	6	31733544	31733544	+	Silent	SNP	G	T	T	rs28399997		TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31733544G>T	uc011dog.1	-	17	2741	c.2503C>A	c.(2503-2505)CGG>AGG	p.R835R		NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	835						extracellular region		p.R835Q(1)		ovary(3)	3																		---	---	---	---	capture		Silent	SNP	31733544	31733544	2467	6	G	T	T	39	39	C6orf27	T	1	1
EHMT2	10919	broad.mit.edu	37	6	31852716	31852716	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31852716C>A	uc003nxz.1	-	19	2431	c.2421G>T	c.(2419-2421)CGG>CGT	p.R807R	EHMT2_uc003nxv.1_5'Flank|EHMT2_uc003nxw.1_5'Flank|EHMT2_uc003nxx.1_Silent_p.R5R|EHMT2_uc003nxy.1_Silent_p.R598R|EHMT2_uc011don.1_Silent_p.R830R|EHMT2_uc003nya.1_Silent_p.R773R	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	807	ANK 5.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	31852716	31852716	5173	6	C	A	A	22	22	EHMT2	A	2	2
NOTCH4	4855	broad.mit.edu	37	6	32169010	32169010	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32169010G>T	uc003obb.2	-	22	4162	c.4023C>A	c.(4021-4023)CCC>CCA	p.P1341P	NOTCH4_uc003oba.2_Silent_p.P4P|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1341	Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22																		---	---	---	---	capture		Silent	SNP	32169010	32169010	10954	6	G	T	T	35	35	NOTCH4	T	2	2
TAP1	6890	broad.mit.edu	37	6	32818803	32818803	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32818803C>G	uc003ocg.2	-	4	1303	c.1148G>C	c.(1147-1149)GGA>GCA	p.G383A	TAP1_uc011dqi.1_Missense_Mutation_p.G122A	NM_000593	NP_000584	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family	383	Lumenal (Potential).|ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	32818803	32818803	16071	6	C	G	G	30	30	TAP1	G	3	3
COL11A2	1302	broad.mit.edu	37	6	33134299	33134299	+	Silent	SNP	G	T	T	rs148262058	byFrequency	TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33134299G>T	uc003ocx.1	-	60	4611	c.4383C>A	c.(4381-4383)CCC>CCA	p.P1461P	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.P1375P|COL11A2_uc003ocz.1_Silent_p.P1354P	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1461	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5																		---	---	---	---	capture		Silent	SNP	33134299	33134299	3806	6	G	T	T	39	39	COL11A2	T	1	1
WDR46	9277	broad.mit.edu	37	6	33256002	33256002	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33256002C>A	uc003ods.2	-	5	528	c.484G>T	c.(484-486)GGG>TGG	p.G162W	WDR46_uc011dra.1_Missense_Mutation_p.G108W|WDR46_uc010juo.1_RNA|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank	NM_005452	NP_005443	O15213	WDR46_HUMAN	WD repeat domain 46 isoform 1	162											0																		---	---	---	---	capture		Missense_Mutation	SNP	33256002	33256002	17872	6	C	A	A	24	24	WDR46	A	2	2
HTR1E	3354	broad.mit.edu	37	6	87725275	87725275	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:87725275G>A	uc003pli.2	+	2	926	c.223G>A	c.(223-225)GTC>ATC	p.V75I		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	75	Helical; Name=2; (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		Missense_Mutation	SNP	87725275	87725275	7739	6	G	A	A	40	40	HTR1E	A	1	1
AKD1	221264	broad.mit.edu	37	6	109819056	109819056	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109819056G>T	uc003ptn.2	-	37	5236	c.5159C>A	c.(5158-5160)CCT>CAT	p.P1720H	AKD1_uc011eas.1_Missense_Mutation_p.P105H	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1720					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	109819056	109819056	463	6	G	T	T	35	35	AKD1	T	2	2
MCM9	254394	broad.mit.edu	37	6	119245215	119245215	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:119245215C>A	uc003pyh.2	-	3	645	c.382G>T	c.(382-384)GGG>TGG	p.G128W		NM_153255	NP_694987	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	128					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			ovary(1)	1		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)														---	---	---	---	capture		Missense_Mutation	SNP	119245215	119245215	9783	6	C	A	A	21	21	MCM9	A	2	2
PAPOLB	56903	broad.mit.edu	37	7	4900001	4900001	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4900001C>A	uc003snk.2	-	1	1625	c.1441G>T	c.(1441-1443)GGT>TGT	p.G481C	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	480					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)														---	---	---	---	capture		Missense_Mutation	SNP	4900001	4900001	11847	7	C	A	A	22	22	PAPOLB	A	2	2
EIF2AK1	27102	broad.mit.edu	37	7	6078219	6078219	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6078219C>A	uc003spp.2	-	10	1349	c.1203G>T	c.(1201-1203)CGG>CGT	p.R401R	EIF2AK1_uc003spq.2_Silent_p.R400R|EIF2AK1_uc011jwm.1_Silent_p.R277R	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	401	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)														---	---	---	---	capture		Silent	SNP	6078219	6078219	5185	7	C	A	A	22	22	EIF2AK1	A	2	2
ARL4A	10124	broad.mit.edu	37	7	12728023	12728023	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:12728023C>A	uc003ssp.2	+	2	421	c.144C>A	c.(142-144)ACC>ACA	p.T48T	ARL4A_uc003ssq.2_Silent_p.T48T|ARL4A_uc003ssr.2_Silent_p.T48T|ARL4A_uc003sss.2_Silent_p.T48T	NM_001037164	NP_001032241	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	48					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)														---	---	---	---	capture		Silent	SNP	12728023	12728023	953	7	C	A	A	23	23	ARL4A	A	1	1
PRPS1L1	221823	broad.mit.edu	37	7	18067280	18067280	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:18067280C>A	uc003stz.2	-	1	207	c.126G>T	c.(124-126)GTG>GTT	p.V42V		NM_175886	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like	42					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			ovary(1)	1	Lung NSC(10;0.0385)|all_lung(11;0.0736)																	---	---	---	---	capture		Silent	SNP	18067280	18067280	13022	7	C	A	A	21	21	PRPS1L1	A	2	2
TXNDC3	51314	broad.mit.edu	37	7	37901736	37901736	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37901736C>T	uc003tfn.2	+	7	749	c.377C>T	c.(376-378)GCT>GTT	p.A126V		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	126					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3														Kartagener_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	37901736	37901736	17354	7	C	T	T	28	28	TXNDC3	T	2	2
POU6F2	11281	broad.mit.edu	37	7	39504151	39504151	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:39504151C>A	uc003thb.1	+	10	1984	c.1942C>A	c.(1942-1944)CGA>AGA	p.R648R		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	648	Homeobox (By similarity).				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	39504151	39504151	12715	7	C	A	A	23	23	POU6F2	A	1	1
HIP1	3092	broad.mit.edu	37	7	75192298	75192298	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75192298G>T	uc003uds.1	-	11	1002	c.961C>A	c.(961-963)CCC>ACC	p.P321T	HIP1_uc011kfz.1_Missense_Mutation_p.P198T	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	321					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8								T	PDGFRB	CMML								---	---	---	---	capture		Missense_Mutation	SNP	75192298	75192298	7399	7	G	T	T	43	43	HIP1	T	2	2
PCOLCE	5118	broad.mit.edu	37	7	100205276	100205276	+	Silent	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100205276G>A	uc003uvo.2	+	8	1227	c.1029G>A	c.(1027-1029)GTG>GTA	p.V343V	PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_RNA	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	343	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity				0	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)																	---	---	---	---	capture		Silent	SNP	100205276	100205276	12014	7	G	A	A	45	45	PCOLCE	A	2	2
ZAN	7455	broad.mit.edu	37	7	100350821	100350821	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100350821G>T	uc003uwj.2	+	14	3258	c.3093G>T	c.(3091-3093)CTG>CTT	p.L1031L	ZAN_uc003uwk.2_Silent_p.L1031L|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1031	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)															---	---	---	---	capture		Silent	SNP	100350821	100350821	18096	7	G	T	T	47	47	ZAN	T	2	2
ZAN	7455	broad.mit.edu	37	7	100373092	100373092	+	Silent	SNP	C	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100373092C>T	uc003uwj.2	+	33	6087	c.5922C>T	c.(5920-5922)GCC>GCT	p.A1974A	ZAN_uc003uwk.2_Silent_p.A1974A|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.A61A	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1974	Extracellular (Potential).|VWFD 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)															---	---	---	---	capture		Silent	SNP	100373092	100373092	18096	7	C	T	T	21	21	ZAN	T	2	2
MUC17	140453	broad.mit.edu	37	7	100683976	100683976	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100683976C>A	uc003uxp.1	+	3	9332	c.9279C>A	c.(9277-9279)ACC>ACA	p.T3093T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3093	Extracellular (Potential).|Ser-rich.|50.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---	capture		Silent	SNP	100683976	100683976	10368	7	C	A	A	21	21	MUC17	A	2	2
PPP1R3A	5506	broad.mit.edu	37	7	113518998	113518998	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:113518998C>T	uc010ljy.1	-	4	2180	c.2149G>A	c.(2149-2151)GCT>ACT	p.A717T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	717					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34																		---	---	---	---	capture		Missense_Mutation	SNP	113518998	113518998	12806	7	C	T	T	28	28	PPP1R3A	T	2	2
HYAL4	23553	broad.mit.edu	37	7	123508765	123508765	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:123508765G>T	uc003vlc.2	+	3	1076	c.438G>T	c.(436-438)TGG>TGT	p.W146C	HYAL4_uc011knz.1_Missense_Mutation_p.W146C	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	146	Extracellular (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	123508765	123508765	7766	7	G	T	T	43	43	HYAL4	T	2	2
SLC35B4	84912	broad.mit.edu	37	7	133979782	133979782	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:133979782G>T	uc003vrn.2	-	10	1123	c.799C>A	c.(799-801)CTC>ATC	p.L267I	SLC35B4_uc010lmk.2_Missense_Mutation_p.L131I|SLC35B4_uc010lml.1_Intron	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	solute carrier family 35, member B4	267	Helical; (Potential).					Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	133979782	133979782	15075	7	G	T	T	35	35	SLC35B4	T	2	2
CNOT4	4850	broad.mit.edu	37	7	135078943	135078943	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135078943C>A	uc003vsv.1	-	10	1661	c.1354G>T	c.(1354-1356)GGA>TGA	p.G452*	CNOT4_uc003vss.2_Nonsense_Mutation_p.G449*|CNOT4_uc011kpz.1_Nonsense_Mutation_p.G449*|CNOT4_uc003vst.2_Nonsense_Mutation_p.G452*|CNOT4_uc003vsu.1_Nonsense_Mutation_p.G449*|CNOT4_uc011kpy.1_Nonsense_Mutation_p.G452*	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	452					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	135078943	135078943	3759	7	C	A	A	21	21	CNOT4	A	5	2
EPHA1	2041	broad.mit.edu	37	7	143092508	143092508	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143092508G>T	uc003wcz.2	-	12	2074	c.1987C>A	c.(1987-1989)CCA>ACA	p.P663T		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	663	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)														OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	143092508	143092508	5358	7	G	T	T	43	43	EPHA1	T	2	2
CDK5	1020	broad.mit.edu	37	7	150754239	150754239	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150754239C>A	uc003wir.1	-	2	107	c.46G>T	c.(46-48)GGA>TGA	p.G16*	CDK5_uc003wis.1_Nonsense_Mutation_p.G16*|SLC4A2_uc003wit.3_5'Flank	NM_004935	NP_004926	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5 isoform 1	16	ATP (By similarity).|Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	p.G16R(1)		lung(1)|central_nervous_system(1)	2		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)														---	---	---	---	capture		Nonsense_Mutation	SNP	150754239	150754239	3271	7	C	A	A	23	23	CDK5	A	5	1
OPRK1	4986	broad.mit.edu	37	8	54141975	54141975	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54141975C>A	uc003xrh.1	-	3	1400	c.1025G>T	c.(1024-1026)CGG>CTG	p.R342L	OPRK1_uc003xri.1_Missense_Mutation_p.R342L|OPRK1_uc010lyc.1_Missense_Mutation_p.R253L	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	342	Cytoplasmic (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)													---	---	---	---	capture		Missense_Mutation	SNP	54141975	54141975	11291	8	C	A	A	23	23	OPRK1	A	1	1
TOX	9760	broad.mit.edu	37	8	59852027	59852027	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59852027G>T	uc003xtw.1	-	3	466	c.245C>A	c.(244-246)TCG>TAG	p.S82*		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	82						nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)																---	---	---	---	capture		Nonsense_Mutation	SNP	59852027	59852027	16919	8	G	T	T	37	37	TOX	T	5	1
TRPA1	8989	broad.mit.edu	37	8	72958758	72958758	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72958758G>A	uc003xza.2	-	17	2226	c.2051C>T	c.(2050-2052)ACA>ATA	p.T684I	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	684	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)													---	---	---	---	capture		Missense_Mutation	SNP	72958758	72958758	17128	8	G	A	A	48	48	TRPA1	A	2	2
HNF4G	3174	broad.mit.edu	37	8	76456141	76456141	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:76456141G>T	uc003yaq.2	+	3	343	c.73G>T	c.(73-75)GGG>TGG	p.G25W	HNF4G_uc003yap.1_Missense_Mutation_p.G25W|HNF4G_uc003yar.2_Missense_Mutation_p.G62W	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	25	Nuclear receptor.|NR C4-type.				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)															---	---	---	---	capture		Missense_Mutation	SNP	76456141	76456141	7546	8	G	T	T	47	47	HNF4G	T	2	2
ZFHX4	79776	broad.mit.edu	37	8	77616509	77616509	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77616509G>T	uc003yav.2	+	2	573	c.186G>T	c.(184-186)CTG>CTT	p.L62L	ZFHX4_uc003yat.1_Silent_p.L62L|ZFHX4_uc003yau.1_Silent_p.L62L|ZFHX4_uc003yaw.1_Silent_p.L62L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	62						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		Silent	SNP	77616509	77616509	18223	8	G	T	T	47	47	ZFHX4	T	2	2
ZFHX4	79776	broad.mit.edu	37	8	77618422	77618422	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77618422G>A	uc003yav.2	+	2	2486	c.2099G>A	c.(2098-2100)CGT>CAT	p.R700H	ZFHX4_uc003yat.1_Missense_Mutation_p.R700H|ZFHX4_uc003yau.1_Missense_Mutation_p.R700H|ZFHX4_uc003yaw.1_Missense_Mutation_p.R700H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	700	C2H2-type 3.					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	77618422	77618422	18223	8	G	A	A	40	40	ZFHX4	A	1	1
SLC10A5	347051	broad.mit.edu	37	8	82606191	82606191	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82606191C>A	uc011lfs.1	-	1	1017	c.1017G>T	c.(1015-1017)TTG>TTT	p.L339F		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	solute carrier family 10 (sodium/bile acid	339	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	82606191	82606191	14872	8	C	A	A	21	21	SLC10A5	A	2	2
SNTB1	6641	broad.mit.edu	37	8	121644768	121644768	+	Silent	SNP	C	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121644768C>T	uc010mdg.2	-	3	1138	c.912G>A	c.(910-912)GTG>GTA	p.V304V	SNTB1_uc003ype.2_Silent_p.V304V	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	304					muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---	capture		Silent	SNP	121644768	121644768	15372	8	C	T	T	29	29	SNTB1	T	2	2
NDRG1	10397	broad.mit.edu	37	8	134276808	134276808	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134276808G>T	uc003yuh.2	-	4	773	c.187C>A	c.(187-189)CAT>AAT	p.H63N	NDRG1_uc003yug.2_Missense_Mutation_p.H63N|NDRG1_uc010mee.2_Intron|NDRG1_uc010mef.2_5'UTR|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Intron	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	63					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding			ovary(4)	4	all_epithelial(106;4.26e-24)|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	134276808	134276808	10650	8	G	T	T	47	47	NDRG1	T	2	2
KDM4C	23081	broad.mit.edu	37	9	7174612	7174612	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:7174612G>T	uc003zkh.2	+	22	3634	c.3054G>T	c.(3052-3054)GGG>GGT	p.G1018G	KDM4C_uc011lmk.1_Silent_p.G763G|KDM4C_uc011lml.1_Silent_p.G705G	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	1018					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	7174612	7174612	8436	9	G	T	T	43	43	KDM4C	T	2	2
FAM154A	158297	broad.mit.edu	37	9	18928612	18928612	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:18928612G>T	uc003zni.1	-	4	1141	c.863C>A	c.(862-864)TCC>TAC	p.S288Y	FAM154A_uc010mip.1_Missense_Mutation_p.S96Y	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	288										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)														---	---	---	---	capture		Missense_Mutation	SNP	18928612	18928612	5661	9	G	T	T	41	41	FAM154A	T	2	2
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21971029C>T	uc003zpk.2	-	2	541	c.329G>A	c.(328-330)TGG>TAG	p.W110*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.L165L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	110	ANK 4.				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.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(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		Nonsense_Mutation	SNP	21971029	21971029	3290	9	C	T	T	21	21	CDKN2A	T	5	2
GNE	10020	broad.mit.edu	37	9	36227385	36227385	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:36227385C>A	uc010mlh.2	-	7	1356	c.1141G>T	c.(1141-1143)GAG>TAG	p.E381*	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Nonsense_Mutation_p.E381*|GNE_uc011lpl.1_Nonsense_Mutation_p.E271*|GNE_uc010mli.2_Nonsense_Mutation_p.E412*|GNE_uc010mlj.2_Nonsense_Mutation_p.E376*	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	381	UDP-N-acetylglucosamine 2-epimerase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)															---	---	---	---	capture		Nonsense_Mutation	SNP	36227385	36227385	6791	9	C	A	A	32	32	GNE	A	5	2
ZCCHC7	84186	broad.mit.edu	37	9	37126507	37126507	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37126507G>T	uc003zzq.2	+	2	351	c.178G>T	c.(178-180)GGG>TGG	p.G60W	ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Missense_Mutation_p.G59W|ZCCHC7_uc010mlt.2_Missense_Mutation_p.G59W|ZCCHC7_uc003zzs.1_Missense_Mutation_p.G59W	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	60							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)														---	---	---	---	capture		Missense_Mutation	SNP	37126507	37126507	18181	9	G	T	T	47	47	ZCCHC7	T	2	2
FAM122A	116224	broad.mit.edu	37	9	71395585	71395585	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:71395585G>T	uc004agw.1	+	1	622	c.505G>T	c.(505-507)GGA>TGA	p.G169*	PIP5K1B_uc004agu.2_Intron|PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_Intron	NM_138333	NP_612206	Q96E09	F122A_HUMAN	hypothetical protein LOC116224	169											0																		---	---	---	---	capture		Nonsense_Mutation	SNP	71395585	71395585	5616	9	G	T	T	39	39	FAM122A	T	5	1
TLE1	7088	broad.mit.edu	37	9	84199152	84199152	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84199152C>A	uc004aly.2	-	20	2715	c.2274G>T	c.(2272-2274)TCG>TCT	p.S758S	TLE1_uc004alz.2_Silent_p.S768S|TLE1_uc011lsr.1_Silent_p.S743S	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	758	WD 6.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	84199152	84199152	16468	9	C	A	A	23	23	TLE1	A	1	1
FLJ46321	389763	broad.mit.edu	37	9	84606846	84606846	+	Silent	SNP	A	G	G			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84606846A>G	uc004amn.2	+	4	1508	c.1461A>G	c.(1459-1461)CCA>CCG	p.P487P		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	487						integral to membrane					0																		---	---	---	---	capture		Silent	SNP	84606846	84606846	6174	9	A	G	G	6	6	FLJ46321	G	4	4
C9orf3	84909	broad.mit.edu	37	9	97844879	97844879	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:97844879G>T	uc004ava.2	+	15	2477	c.2342G>T	c.(2341-2343)GGG>GTG	p.G781V	C9orf3_uc004auy.2_Missense_Mutation_p.G682V|C9orf3_uc004avc.2_Intron|C9orf3_uc011luj.1_Missense_Mutation_p.G143V|C9orf3_uc011luk.1_Missense_Mutation_p.G122V|C9orf3_uc004avd.2_Missense_Mutation_p.G143V|MIR23B_hsa-mir-23b|MI0000439_5'Flank|uc004avg.3_5'Flank|MIR27B_hsa-mir-27b|MI0000440_5'Flank	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	781					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)														---	---	---	---	capture		Missense_Mutation	SNP	97844879	97844879	2592	9	G	T	T	43	43	C9orf3	T	2	2
PPP3R2	5535	broad.mit.edu	37	9	104356757	104356757	+	Silent	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104356757G>T	uc004bbr.2	-	1	527	c.456C>A	c.(454-456)TCC>TCA	p.S152S	GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	protein phosphatase 3 regulatory subunit B, beta	149	EF-hand 4.|4.						calcium ion binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)													---	---	---	---	capture		Silent	SNP	104356757	104356757	12837	9	G	T	T	35	35	PPP3R2	T	2	2
SVEP1	79987	broad.mit.edu	37	9	113169931	113169931	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113169931G>T	uc010mtz.2	-	38	8286	c.7949C>A	c.(7948-7950)CCT>CAT	p.P2650H	SVEP1_uc010mty.2_Missense_Mutation_p.P576H	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2650					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7																		---	---	---	---	capture		Missense_Mutation	SNP	113169931	113169931	15940	9	G	T	T	35	35	SVEP1	T	2	2
PRPF4	9128	broad.mit.edu	37	9	116038942	116038942	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116038942G>T	uc004bgx.2	+	2	195	c.145G>T	c.(145-147)GGG>TGG	p.G49W	FKBP15_uc010muu.1_5'Flank|CDC26_uc004bgw.2_5'Flank|PRPF4_uc004bgy.2_Missense_Mutation_p.G48W	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	49						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	116038942	116038942	13013	9	G	T	T	47	47	PRPF4	T	2	2
TNC	3371	broad.mit.edu	37	9	117798447	117798447	+	Silent	SNP	T	C	C			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117798447T>C	uc004bjj.3	-	21	5948	c.5586A>G	c.(5584-5586)GAA>GAG	p.E1862E	TNC_uc010mvf.2_Silent_p.E1589E	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1862	Fibronectin type-III 14.				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	117798447	117798447	16811	9	T	C	C	52	52	TNC	C	4	4
NUP188	23511	broad.mit.edu	37	9	131760858	131760858	+	Silent	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131760858C>A	uc004bws.1	+	32	3493	c.3471C>A	c.(3469-3471)TCC>TCA	p.S1157S	NUP188_uc004bwu.2_Silent_p.S500S	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1157					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7																		---	---	---	---	capture		Silent	SNP	131760858	131760858	11163	9	C	A	A	21	21	NUP188	A	2	2
PPP2R4	5524	broad.mit.edu	37	9	131898812	131898812	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131898812G>T	uc004bxm.1	+	8	995	c.728G>T	c.(727-729)GGA>GTA	p.G243V	PPP2R4_uc004bxl.1_Missense_Mutation_p.G208V|PPP2R4_uc011mbo.1_Missense_Mutation_p.G243V|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Missense_Mutation_p.G208V|PPP2R4_uc004bxo.1_Missense_Mutation_p.G166V|PPP2R4_uc011mbp.1_Missense_Mutation_p.G179V|PPP2R4_uc011mbq.1_Missense_Mutation_p.G166V|PPP2R4_uc010mys.1_Missense_Mutation_p.G173V|PPP2R4_uc011mbr.1_5'Flank	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	243					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)														---	---	---	---	capture		Missense_Mutation	SNP	131898812	131898812	12827	9	G	T	T	41	41	PPP2R4	T	2	2
USP20	10868	broad.mit.edu	37	9	132642491	132642491	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132642491C>A	uc004bys.2	+	25	2895	c.2684C>A	c.(2683-2685)CCG>CAG	p.P895Q	USP20_uc004byr.2_Missense_Mutation_p.P895Q|USP20_uc004byt.1_Missense_Mutation_p.P895Q|USP20_uc004byu.1_Missense_Mutation_p.P81Q	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	895					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)																---	---	---	---	capture		Missense_Mutation	SNP	132642491	132642491	17615	9	C	A	A	23	23	USP20	A	1	1
NCS1	23413	broad.mit.edu	37	9	132982045	132982045	+	Silent	SNP	G	T	T	rs11552457	byFrequency	TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132982045G>T	uc004bzi.2	+	4	356	c.270G>T	c.(268-270)TCG>TCT	p.S90S	NCS1_uc010myz.1_Silent_p.S72S	NM_014286	NP_055101	P62166	NCS1_HUMAN	frequenin homolog isoform 1	90	EF-hand 2.			S -> P (in Ref. 4; AAF01804).	negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding				0																		---	---	---	---	capture		Silent	SNP	132982045	132982045	10639	9	G	T	T	39	39	NCS1	T	1	1
SETX	23064	broad.mit.edu	37	9	135139709	135139709	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135139709G>T	uc004cbk.2	-	26	8134	c.7951C>A	c.(7951-7953)CAT>AAT	p.H2651N	SETX_uc004cbj.2_Missense_Mutation_p.H2299N|SETX_uc010mzt.2_Missense_Mutation_p.H2237N	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2651					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)														---	---	---	---	capture		Missense_Mutation	SNP	135139709	135139709	14630	9	G	T	T	47	47	SETX	T	2	2
TSC1	7248	broad.mit.edu	37	9	135786433	135786433	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135786433G>T	uc004cca.2	-	11	1331	c.1097C>A	c.(1096-1098)CCA>CAA	p.P366Q	TSC1_uc004ccb.3_Missense_Mutation_p.P366Q|TSC1_uc011mcq.1_Missense_Mutation_p.P315Q|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Missense_Mutation_p.P245Q|TSC1_uc004ccc.1_Missense_Mutation_p.P366Q|TSC1_uc004ccd.2_3'UTR|TSC1_uc004cce.1_3'UTR	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	366					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)				D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				---	---	---	---	capture		Missense_Mutation	SNP	135786433	135786433	17156	9	G	T	T	47	47	TSC1	T	2	2
SURF2	6835	broad.mit.edu	37	9	136226940	136226940	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136226940G>T	uc004cdi.2	+	4	500	c.452G>T	c.(451-453)TGG>TTG	p.W151L		NM_017503	NP_059973	Q15527	SURF2_HUMAN	surfeit 2	151							protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)														---	---	---	---	capture		Missense_Mutation	SNP	136226940	136226940	15924	9	G	T	T	47	47	SURF2	T	2	2
SEC16A	9919	broad.mit.edu	37	9	139371928	139371928	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139371928G>T	uc004chx.2	-	3	449	c.140C>A	c.(139-141)CCG>CAG	p.P47Q	SEC16A_uc004chv.3_5'Flank|SEC16A_uc004chw.2_Missense_Mutation_p.P47Q|SEC16A_uc010nbn.2_Missense_Mutation_p.P47Q|SEC16A_uc010nbo.1_Missense_Mutation_p.P47Q	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)														---	---	---	---	capture		Missense_Mutation	SNP	139371928	139371928	14472	9	G	T	T	39	39	SEC16A	T	1	1
IL3RA	3563	broad.mit.edu	37	X	1467403	1467403	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1467403C>A	uc004cps.2	+	4	612	c.263C>A	c.(262-264)CCA>CAA	p.P88Q	IL3RA_uc011mhd.1_Intron	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	88	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)													---	---	---	---	capture		Missense_Mutation	SNP	1467403	1467403	7996	23	C	A	A	21	21	IL3RA	A	2	2
IQSEC2	23096	broad.mit.edu	37	X	53279723	53279723	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53279723G>A	uc004dsd.2	-	5	2236	c.2035C>T	c.(2035-2037)CGG>TGG	p.R679W	IQSEC2_uc004dsc.2_Missense_Mutation_p.R474W	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	669					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	53279723	53279723	8121	23	G	A	A	37	37	IQSEC2	A	1	1
TEX11	56159	broad.mit.edu	37	X	69898679	69898679	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69898679C>G	uc004dyl.2	-	16	1424	c.1262G>C	c.(1261-1263)TGG>TCG	p.W421S	TEX11_uc004dyk.2_Missense_Mutation_p.W96S|TEX11_uc004dym.2_Missense_Mutation_p.W406S	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	testis expressed sequence 11 isoform 1	421							protein binding			ovary(3)|breast(1)|skin(1)	5	Renal(35;0.156)																	---	---	---	---	capture		Missense_Mutation	SNP	69898679	69898679	16301	23	C	G	G	21	21	TEX11	G	3	3
TCEAL2	140597	broad.mit.edu	37	X	101381881	101381881	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101381881G>T	uc004eip.2	+	3	298	c.79G>T	c.(79-81)GAG>TAG	p.E27*		NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0																		---	---	---	---	capture		Nonsense_Mutation	SNP	101381881	101381881	16197	23	G	T	T	37	37	TCEAL2	T	5	1
RBMX2	51634	broad.mit.edu	37	X	129537803	129537803	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129537803G>T	uc004evt.2	+	3	213	c.149G>T	c.(148-150)GGG>GTG	p.G50V		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	50	RRM.						nucleotide binding|RNA binding			breast(3)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	129537803	129537803	13614	23	G	T	T	43	43	RBMX2	T	2	2
ZIC3	7547	broad.mit.edu	37	X	136649856	136649856	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:136649856G>T	uc004fak.2	+	1	1511	c.1006G>T	c.(1006-1008)GGG>TGG	p.G336W		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	336	C2H2-type 3.|Nuclear localization signal.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture		Missense_Mutation	SNP	136649856	136649856	18271	23	G	T	T	39	39	ZIC3	T	1	1
PLXNB3	5365	broad.mit.edu	37	X	153036446	153036446	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3407-01	TCGA-18-3407-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153036446G>T	uc004fii.2	+	12	2337	c.2163G>T	c.(2161-2163)TGG>TGT	p.W721C	PLXNB3_uc011mzb.1_Missense_Mutation_p.G177V|PLXNB3_uc011mzc.1_Missense_Mutation_p.W403C|PLXNB3_uc010nuk.2_Missense_Mutation_p.W744C|PLXNB3_uc011mzd.1_Missense_Mutation_p.W360C	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	721	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	153036446	153036446	12551	23	G	T	T	42	42	PLXNB3	T	2	2
