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
ELTD1	64123	broad.mit.edu	37	1	79403931	79403932	+	Nonsense_Mutation	DNP	GT	AA	AA			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:79403931_79403932GT>AA	uc001diq.3	-	5	585_586	c.429_430AC>TT	c.(427-432)CTACAA>CTTTAA	p.Q144*		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	144	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)														---	---	---	---	capture		Nonsense_Mutation	DNP	79403931	79403932	5276	1	GT	AA	AA	48	48	ELTD1	AA	5	2
COL24A1	255631	broad.mit.edu	37	1	86437076	86437077	+	Splice_Site	DNP	CC	AA	AA			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86437076_86437077CC>AA	uc001dlj.2	-	21	2407	c.2365_splice	c.e21-1	p.G789_splice	COL24A1_uc010osd.1_Splice_Site_p.G89_splice|COL24A1_uc001dlk.2_Splice_Site|COL24A1_uc010ose.1_Splice_Site|COL24A1_uc010osf.1_Splice_Site	NM_152890	NP_690850			collagen, type XXIV, alpha 1 precursor						cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)														---	---	---	---	capture		Splice_Site	DNP	86437076	86437077	3821	1	CC	AA	AA	22	22	COL24A1	AA	5	2
TP53	7157	broad.mit.edu	37	17	7577505	7577506	+	Missense_Mutation	DNP	TC	AA	AA			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7577505_7577506TC>AA	uc002gim.2	-	7	969_970	c.775_776GA>TT	c.(775-777)GAC>TTC	p.D259F	TP53_uc002gig.1_Missense_Mutation_p.D259F|TP53_uc002gih.2_Missense_Mutation_p.D259F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D127F|TP53_uc010cng.1_Missense_Mutation_p.D127F|TP53_uc002gii.1_Missense_Mutation_p.D127F|TP53_uc010cnh.1_Missense_Mutation_p.D259F|TP53_uc010cni.1_Missense_Mutation_p.D259F|TP53_uc002gij.2_Missense_Mutation_p.D259F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.D166F|TP53_uc002gio.2_Missense_Mutation_p.D127F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	259	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		D -> Y (in sporadic cancers; somatic mutation).|D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.D259Y(19)|p.D259V(13)|p.0?(7)|p.D259N(6)|p.D259fs*86(4)|p.D259G(4)|p.D259fs*5(3)|p.D259E(3)|p.D259D(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)|p.D259H(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)			111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---	capture		Missense_Mutation	DNP	7577505	7577506	16923	17	TC	AA	AA	58	58	TP53	AA	4	4
KCNH4	23415	broad.mit.edu	37	17	40332908	40332909	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40332908_40332909GC>TT	uc002hzb.2	-	1	388_389	c.55_56GC>AA	c.(55-57)GCC>AAC	p.A19N		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	19	Cytoplasmic (Potential).|PAS.				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)														---	---	---	---	capture		Missense_Mutation	DNP	40332908	40332909	8339	17	GC	TT	TT	42	42	KCNH4	TT	2	2
ZNF524	147807	broad.mit.edu	37	19	56113562	56113563	+	Silent	DNP	CC	AA	AA			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56113562_56113563CC>AA	uc002qlk.1	+	2	167_168	c.84_85CC>AA	c.(82-87)CCCCGG>CCAAGG	p.28_29PR>PR	FIZ1_uc002qli.3_5'Flank|FIZ1_uc002qlj.3_5'Flank	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	zinc finger protein 524	28_29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---	capture		Silent	DNP	56113562	56113563	18560	19	CC	AA	AA	22	22	ZNF524	AA	2	2
NLRP4	147945	broad.mit.edu	37	19	56363600	56363601	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56363600_56363601CG>AT	uc002qmd.3	+	2	576_577	c.154_155CG>AT	c.(154-156)CGG>ATG	p.R52M		NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	52	DAPIN.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)														---	---	---	---	capture		Missense_Mutation	DNP	56363600	56363601	10882	19	CG	AT	AT	23	23	NLRP4	AT	1	1
NLRP8	126205	broad.mit.edu	37	19	56467237	56467238	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56467237_56467238GG>TT	uc002qmh.2	+	3	1884_1885	c.1813_1814GG>TT	c.(1813-1815)GGG>TTG	p.G605L	NLRP8_uc010etg.2_Missense_Mutation_p.G605L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	605						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)														---	---	---	---	capture		Missense_Mutation	DNP	56467237	56467238	10886	19	GG	TT	TT	47	47	NLRP8	TT	2	2
NLRP8	126205	broad.mit.edu	37	19	56477633	56477634	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56477633_56477634GG>TT	uc002qmh.2	+	5	2339_2340	c.2268_2269GG>TT	c.(2266-2271)ACGGGG>ACTTGG	p.G757W	NLRP8_uc010etg.2_Missense_Mutation_p.G757W	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	757						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)														---	---	---	---	capture		Missense_Mutation	DNP	56477633	56477634	10886	19	GG	TT	TT	39	39	NLRP8	TT	1	1
ZSCAN5A	79149	broad.mit.edu	37	19	56733549	56733550	+	Missense_Mutation	DNP	TG	CT	CT			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56733549_56733550TG>CT	uc002qmq.2	-	5	1051_1052	c.885_886CA>AG	c.(883-888)AGCAGT>AGAGGT	p.295_296SS>RG	ZSCAN5A_uc010ygi.1_Missense_Mutation_p.178_179SS>RG|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.295_296SS>RG|ZSCAN5A_uc002qms.1_Missense_Mutation_p.294_295SS>RG	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	295_296					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	DNP	56733549	56733550	18842	19	TG	CT	CT	55	55	ZSCAN5A	CT	4	4
CPS1	1373	broad.mit.edu	37	2	211469956	211469957	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211469956_211469957TG>AT	uc002vee.3	+	17	2099_2100	c.1967_1968TG>AT	c.(1966-1968)ATG>AAT	p.M656N	CPS1_uc010fur.2_Missense_Mutation_p.M662N|CPS1_uc010fus.2_Missense_Mutation_p.M205N	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	656	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)														---	---	---	---	capture		Missense_Mutation	DNP	211469956	211469957	3961	2	TG	AT	AT	51	51	CPS1	AT	4	4
IRX6	79190	broad.mit.edu	37	16	55361548	55361548	+	Frame_Shift_Del	DEL	G	-	-			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55361548delG	uc002ehy.2	+	4	997	c.464delG	c.(463-465)CGGfs	p.R155fs	IRX6_uc002ehx.2_Frame_Shift_Del_p.R155fs|IRX6_uc010ccb.1_RNA	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	155	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	55361548	55361548	8152	16	G	-	-	39	39	IRX6	-	5	5
TET3	200424	broad.mit.edu	37	2	74328275	74328275	+	Frame_Shift_Del	DEL	G	-	-			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74328275delG	uc002skb.3	+	9	3955	c.3955delG	c.(3955-3957)GGCfs	p.G1319fs		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1319							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	74328275	74328275	16298	2	G	-	-	47	47	TET3	-	5	5
PPP2R5D	5528	broad.mit.edu	37	6	42974327	42974327	+	Frame_Shift_Del	DEL	C	-	-			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42974327delC	uc003oth.2	+	3	318	c.232delC	c.(232-234)CCCfs	p.P78fs	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Frame_Shift_Del_p.P78fs|PPP2R5D_uc010jyd.2_Intron|PPP2R5D_uc011dva.1_5'UTR|PPP2R5D_uc003oti.2_5'UTR|PPP2R5D_uc003otj.2_5'UTR	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein	78					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)															---	---	---	---	capture_indel		Frame_Shift_Del	DEL	42974327	42974327	12831	6	C	-	-	26	26	PPP2R5D	-	5	5
MAPK15	225689	broad.mit.edu	37	8	144802438	144802438	+	Frame_Shift_Del	DEL	C	-	-			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144802438delC	uc003yzj.2	+	8	801	c.760delC	c.(760-762)CTGfs	p.L254fs		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	254	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)															---	---	---	---	capture_indel		Frame_Shift_Del	DEL	144802438	144802438	9660	8	C	-	-	28	28	MAPK15	-	5	5
GARNL3	84253	broad.mit.edu	37	9	130104531	130104533	+	In_Frame_Del	DEL	CAA	-	-			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130104531_130104533delCAA	uc011mae.1	+	14	1570_1572	c.1169_1171delCAA	c.(1168-1173)CCAACA>CCA	p.T391del	GARNL3_uc011mad.1_In_Frame_Del_p.T369del|GARNL3_uc004bqt.1_In_Frame_Del_p.T172del	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	391	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture_indel		In_Frame_Del	DEL	130104531	130104533	6505	9	CAA	-	-	21	21	GARNL3	-	5	5
CXorf1	9142	broad.mit.edu	37	X	144909203	144909203	+	Frame_Shift_Del	DEL	C	-	-			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:144909203delC	uc004fch.2	+	1	276	c.8delC	c.(7-9)TCCfs	p.S3fs		NM_004709	NP_004700	O96002	CX001_HUMAN	hypothetical protein LOC9142	3											0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture_indel		Frame_Shift_Del	DEL	144909203	144909203	4260	23	C	-	-	30	30	CXorf1	-	5	5
TAS1R1	80835	broad.mit.edu	37	1	6634893	6634893	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6634893G>T	uc001ant.2	+	3	701	c.701G>T	c.(700-702)GGT>GTT	p.G234V	TAS1R1_uc001anu.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Missense_Mutation_p.G234V	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	234	Extracellular (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---	capture		Missense_Mutation	SNP	6634893	6634893	16084	1	G	T	T	44	44	TAS1R1	T	2	2
SLC45A1	50651	broad.mit.edu	37	1	8384579	8384579	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8384579C>A	uc001apb.2	+	1	190	c.190C>A	c.(190-192)CCC>ACC	p.P64T		NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	64					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Missense_Mutation	SNP	8384579	8384579	15137	1	C	A	A	22	22	SLC45A1	A	2	2
EIF4G3	8672	broad.mit.edu	37	1	21268563	21268563	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21268563G>T	uc001bec.2	-	9	1172	c.916C>A	c.(916-918)CCA>ACA	p.P306T	EIF4G3_uc010odi.1_5'UTR|EIF4G3_uc010odj.1_Missense_Mutation_p.P305T|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Missense_Mutation_p.P306T|EIF4G3_uc001bef.2_Missense_Mutation_p.P305T|EIF4G3_uc001bee.2_Missense_Mutation_p.P312T|EIF4G3_uc001beg.2_Missense_Mutation_p.P305T|EIF4G3_uc010odk.1_Missense_Mutation_p.P306T|EIF4G3_uc001beh.2_Missense_Mutation_p.P317T	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	306					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)														---	---	---	---	capture		Missense_Mutation	SNP	21268563	21268563	5229	1	G	T	T	43	43	EIF4G3	T	2	2
HNRNPR	10236	broad.mit.edu	37	1	23637423	23637423	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23637423C>A	uc001bgr.3	-	11	1585	c.1426G>T	c.(1426-1428)GGT>TGT	p.G476C	HNRNPR_uc001bgo.2_Missense_Mutation_p.G86C|HNRNPR_uc001bgp.3_Missense_Mutation_p.G479C|HNRNPR_uc009vqk.2_Missense_Mutation_p.G378C|HNRNPR_uc001bgs.3_Missense_Mutation_p.G375C|HNRNPR_uc010odw.1_Missense_Mutation_p.G438C|HNRNPR_uc010odx.1_Missense_Mutation_p.G316C|HNRNPR_uc009vql.2_Missense_Mutation_p.G337C	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	476	2.|3 X 11 AA approximate repeats of D-D-Y-Y- G-Y-D-Y-H-D-Y.|RNA-binding RGG-box.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	23637423	23637423	7564	1	C	A	A	21	21	HNRNPR	A	2	2
CATSPER4	378807	broad.mit.edu	37	1	26524831	26524831	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26524831C>A	uc010oez.1	+	6	733	c.733C>A	c.(733-735)CAG>AAG	p.Q245K	CATSPER4_uc010oey.1_Missense_Mutation_p.Q67K|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	245	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Missense_Mutation	SNP	26524831	26524831	2809	1	C	A	A	21	21	CATSPER4	A	2	2
ARID1A	8289	broad.mit.edu	37	1	27057765	27057765	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27057765C>A	uc001bmv.1	+	3	1846	c.1473C>A	c.(1471-1473)TCC>TCA	p.S491S	ARID1A_uc001bmt.1_Silent_p.S491S|ARID1A_uc001bmu.1_Silent_p.S491S|ARID1A_uc001bmw.1_Silent_p.S108S	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	491					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)				Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								---	---	---	---	capture		Silent	SNP	27057765	27057765	928	1	C	A	A	22	22	ARID1A	A	2	2
PUM1	9698	broad.mit.edu	37	1	31465245	31465245	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:31465245G>C	uc001bsi.1	-	7	1263	c.1150C>G	c.(1150-1152)CAA>GAA	p.Q384E	PUM1_uc001bsf.1_Missense_Mutation_p.Q45E|PUM1_uc001bsg.1_Missense_Mutation_p.Q196E|PUM1_uc001bsh.1_Missense_Mutation_p.Q384E|PUM1_uc001bsj.1_Missense_Mutation_p.Q384E|PUM1_uc010oga.1_Missense_Mutation_p.Q288E|PUM1_uc001bsk.1_Missense_Mutation_p.Q420E|PUM1_uc010ogb.1_Missense_Mutation_p.Q324E	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	384					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)														---	---	---	---	capture		Missense_Mutation	SNP	31465245	31465245	13283	1	G	C	C	45	45	PUM1	C	3	3
PUM1	9698	broad.mit.edu	37	1	31465307	31465307	+	Nonsense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:31465307G>C	uc001bsi.1	-	7	1201	c.1088C>G	c.(1087-1089)TCA>TGA	p.S363*	PUM1_uc001bsf.1_Nonsense_Mutation_p.S24*|PUM1_uc001bsg.1_Nonsense_Mutation_p.S175*|PUM1_uc001bsh.1_Nonsense_Mutation_p.S363*|PUM1_uc001bsj.1_Nonsense_Mutation_p.S363*|PUM1_uc010oga.1_Nonsense_Mutation_p.S267*|PUM1_uc001bsk.1_Nonsense_Mutation_p.S399*|PUM1_uc010ogb.1_Nonsense_Mutation_p.S303*	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	363					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)														---	---	---	---	capture		Nonsense_Mutation	SNP	31465307	31465307	13283	1	G	C	C	45	45	PUM1	C	5	3
BAI2	576	broad.mit.edu	37	1	32221657	32221657	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32221657C>T	uc001btn.2	-	4	1135	c.781G>A	c.(781-783)GAG>AAG	p.E261K	BAI2_uc010ogp.1_Missense_Mutation_p.E249K|BAI2_uc010ogq.1_Missense_Mutation_p.E261K|BAI2_uc001bto.2_Missense_Mutation_p.E261K|BAI2_uc001btq.1_Missense_Mutation_p.E249K|BAI2_uc010ogr.1_Missense_Mutation_p.E249K	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	261	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)														---	---	---	---	capture		Missense_Mutation	SNP	32221657	32221657	1320	1	C	T	T	29	29	BAI2	T	2	2
PHC2	1912	broad.mit.edu	37	1	33820487	33820487	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33820487G>C	uc001bxg.1	-	7	1398	c.1344C>G	c.(1342-1344)TTC>TTG	p.F448L	PHC2_uc001bxh.1_Missense_Mutation_p.F419L|PHC2_uc009vuh.1_Missense_Mutation_p.F448L	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	448					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)																---	---	---	---	capture		Missense_Mutation	SNP	33820487	33820487	12240	1	G	C	C	41	41	PHC2	C	3	3
DLGAP3	58512	broad.mit.edu	37	1	35334288	35334288	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35334288C>G	uc001byc.2	-	7	2403	c.2403G>C	c.(2401-2403)ATG>ATC	p.M801I		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	801					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)																---	---	---	---	capture		Missense_Mutation	SNP	35334288	35334288	4741	1	C	G	G	25	25	DLGAP3	G	3	3
MACF1	23499	broad.mit.edu	37	1	39917952	39917952	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39917952G>T	uc010oiu.1	+	51	16003	c.15872G>T	c.(15871-15873)AGC>ATC	p.S5291I	MACF1_uc010ois.1_Missense_Mutation_p.S4789I	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---	capture		Missense_Mutation	SNP	39917952	39917952	9521	1	G	T	T	34	34	MACF1	T	2	2
SMAP2	64744	broad.mit.edu	37	1	40872518	40872518	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40872518C>A	uc001cfj.2	+	2	279	c.214C>A	c.(214-216)CAG>AAG	p.Q72K	SMAP2_uc010ojh.1_Missense_Mutation_p.Q72K|SMAP2_uc001cfk.2_Missense_Mutation_p.Q42K|SMAP2_uc010oji.1_5'UTR	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	72	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)															---	---	---	---	capture		Missense_Mutation	SNP	40872518	40872518	15265	1	C	A	A	21	21	SMAP2	A	2	2
SMAP2	64744	broad.mit.edu	37	1	40879887	40879887	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40879887G>A	uc001cfj.2	+	6	611	c.546G>A	c.(544-546)GCG>GCA	p.A182A	SMAP2_uc010ojh.1_Silent_p.A182A|SMAP2_uc001cfk.2_Silent_p.A152A|SMAP2_uc010oji.1_Silent_p.A99A|SMAP2_uc010ojj.1_5'UTR	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	182	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)															---	---	---	---	capture		Silent	SNP	40879887	40879887	15265	1	G	A	A	38	38	SMAP2	A	1	1
KDM4A	9682	broad.mit.edu	37	1	44133653	44133653	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44133653G>T	uc001cjx.2	+	9	1292	c.1126G>T	c.(1126-1128)GGG>TGG	p.G376W	KDM4A_uc010oki.1_Missense_Mutation_p.G376W	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	376					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	44133653	44133653	8434	1	G	T	T	35	35	KDM4A	T	2	2
HECTD3	79654	broad.mit.edu	37	1	45470361	45470361	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45470361C>A	uc009vxk.2	-	16	2151	c.2053G>T	c.(2053-2055)GGG>TGG	p.G685W	HECTD3_uc001cmx.3_Missense_Mutation_p.G34W|HECTD3_uc001cmy.3_Missense_Mutation_p.G295W|HECTD3_uc010olh.1_Missense_Mutation_p.G401W	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	685	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	45470361	45470361	7324	1	C	A	A	21	21	HECTD3	A	2	2
MAST2	23139	broad.mit.edu	37	1	46494545	46494545	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46494545G>T	uc001cov.2	+	18	2441	c.2158G>T	c.(2158-2160)GTG>TTG	p.V720L	MAST2_uc001cow.2_Missense_Mutation_p.V720L|MAST2_uc001coy.1_Missense_Mutation_p.V394L|MAST2_uc001coz.1_Missense_Mutation_p.V605L|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	720	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)																	---	---	---	---	capture		Missense_Mutation	SNP	46494545	46494545	9709	1	G	T	T	44	44	MAST2	T	2	2
LRRC41	10489	broad.mit.edu	37	1	46763281	46763281	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46763281C>G	uc001cpn.2	-	3	355	c.311G>C	c.(310-312)CGC>CCC	p.R104P	LRRC41_uc010omb.1_Missense_Mutation_p.R104P|LRRC41_uc001cpo.1_Missense_Mutation_p.R104P	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	104										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	46763281	46763281	9374	1	C	G	G	27	27	LRRC41	G	3	3
C1orf87	127795	broad.mit.edu	37	1	60503689	60503689	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:60503689C>T	uc001czs.1	-	6	930	c.838G>A	c.(838-840)GAG>AAG	p.E280K		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	280							calcium ion binding			ovary(1)|breast(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	60503689	60503689	2140	1	C	T	T	29	29	C1orf87	T	2	2
LEPR	3953	broad.mit.edu	37	1	66102686	66102686	+	Silent	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:66102686C>T	uc001dci.2	+	20	3688	c.3486C>T	c.(3484-3486)GAC>GAT	p.D1162D	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	1162	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)														---	---	---	---	capture		Silent	SNP	66102686	66102686	9052	1	C	T	T	18	18	LEPR	T	2	2
SERBP1	26135	broad.mit.edu	37	1	67895690	67895690	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67895690G>A	uc001ddv.2	-	1	434	c.294C>T	c.(292-294)CCC>CCT	p.P98P	SERBP1_uc001ddx.2_Silent_p.P98P|SERBP1_uc001ddy.2_Silent_p.P98P|SERBP1_uc001ddw.2_Silent_p.P98P	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1 isoform 1	98					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			skin(1)	1																		---	---	---	---	capture		Silent	SNP	67895690	67895690	14561	1	G	A	A	39	39	SERBP1	A	1	1
TNNI3K	51086	broad.mit.edu	37	1	75009592	75009592	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75009592T>C	uc001dgf.1	+	25	2485	c.2434T>C	c.(2434-2436)TAT>CAT	p.Y812H	TNNI3K_uc001dge.1_Missense_Mutation_p.Y913H	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	812						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	75009592	75009592	16870	1	T	C	C	53	53	TNNI3K	C	4	4
RABGGTB	5876	broad.mit.edu	37	1	76259838	76259838	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:76259838G>T	uc001dgy.1	+	8	846	c.775G>T	c.(775-777)GAT>TAT	p.D259Y	MSH4_uc001dhd.1_5'Flank|RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_Missense_Mutation_p.D213Y|RABGGTB_uc001dhc.1_RNA	NM_004582	NP_004573	P53611	PGTB2_HUMAN	RAB geranylgeranyltransferase, beta subunit	259					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	76259838	76259838	13427	1	G	T	T	45	45	RABGGTB	T	2	2
WDR63	126820	broad.mit.edu	37	1	85551640	85551640	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85551640C>A	uc001dkt.2	+	7	858	c.667C>A	c.(667-669)CTT>ATT	p.L223I	WDR63_uc009wcl.2_Missense_Mutation_p.L223I	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	223										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)														---	---	---	---	capture		Missense_Mutation	SNP	85551640	85551640	17887	1	C	A	A	24	24	WDR63	A	2	2
BTBD8	284697	broad.mit.edu	37	1	92612763	92612763	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92612763A>G	uc001doo.2	+	8	1224	c.957A>G	c.(955-957)ATA>ATG	p.I319M	BTBD8_uc010otc.1_RNA	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	319						nucleus				ovary(1)	1		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)														---	---	---	---	capture		Missense_Mutation	SNP	92612763	92612763	1581	1	A	G	G	14	14	BTBD8	G	4	4
CCDC18	343099	broad.mit.edu	37	1	93704969	93704969	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:93704969C>A	uc001dpq.2	+	20	3228	c.3060C>A	c.(3058-3060)CTC>CTA	p.L1020L	CCDC18_uc009wdl.1_Silent_p.L537L	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	901	Potential.			L -> F (in Ref. 1; BAC86410).						ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)														---	---	---	---	capture		Silent	SNP	93704969	93704969	2916	1	C	A	A	32	32	CCDC18	A	2	2
SLC35A3	23443	broad.mit.edu	37	1	100477020	100477020	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100477020G>C	uc001dsp.1	+	5	762	c.565G>C	c.(565-567)GCT>CCT	p.A189P	SLC35A3_uc001dsq.1_Missense_Mutation_p.A189P|SLC35A3_uc009wdy.1_Missense_Mutation_p.A189P|SLC35A3_uc001dsr.1_Missense_Mutation_p.A231P|SLC35A3_uc001dss.1_Missense_Mutation_p.A108P	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 member 3A	189	Helical; (Potential).				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)														---	---	---	---	capture		Missense_Mutation	SNP	100477020	100477020	15069	1	G	C	C	46	46	SLC35A3	C	3	3
OLFM3	118427	broad.mit.edu	37	1	102270020	102270020	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:102270020A>C	uc001duf.2	-	6	1282	c.1211T>G	c.(1210-1212)CTG>CGG	p.L404R	OLFM3_uc001dug.2_Missense_Mutation_p.L384R|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.L309R|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	404	Olfactomedin-like.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)														---	---	---	---	capture		Missense_Mutation	SNP	102270020	102270020	11259	1	A	C	C	7	7	OLFM3	C	4	4
AKNAD1	254268	broad.mit.edu	37	1	109394803	109394803	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109394803T>C	uc001dwa.2	-	2	753	c.484A>G	c.(484-486)AAA>GAA	p.K162E	AKNAD1_uc010ovb.1_Intron|AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	162										ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	109394803	109394803	467	1	T	C	C	64	64	AKNAD1	C	4	4
KCNA3	3738	broad.mit.edu	37	1	111215804	111215804	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111215804G>A	uc001dzv.1	-	1	1852	c.1628C>T	c.(1627-1629)CCC>CTC	p.P543L		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	543						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---	capture		Missense_Mutation	SNP	111215804	111215804	8309	1	G	A	A	43	43	KCNA3	A	2	2
FAM46C	54855	broad.mit.edu	37	1	118166109	118166109	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118166109C>A	uc001ehe.2	+	2	818	c.619C>A	c.(619-621)CAC>AAC	p.H207N		NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	hypothetical protein LOC54855	207											0	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)											Multiple Myeloma(3;1.13e-06)			---	---	---	---	capture		Missense_Mutation	SNP	118166109	118166109	5788	1	C	A	A	21	21	FAM46C	A	2	2
PDE4DIP	9659	broad.mit.edu	37	1	144881556	144881556	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144881556G>T	uc001elw.3	-	25	3931	c.3640C>A	c.(3640-3642)CAG>AAG	p.Q1214K	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.Q1170K|PDE4DIP_uc001elv.3_Missense_Mutation_p.Q221K	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1214	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---	capture		Missense_Mutation	SNP	144881556	144881556	12064	1	G	T	T	47	47	PDE4DIP	T	2	2
BCL9	607	broad.mit.edu	37	1	147095796	147095796	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:147095796G>T	uc001epq.2	+	10	4057	c.3317G>T	c.(3316-3318)GGG>GTG	p.G1106V	BCL9_uc010ozr.1_Missense_Mutation_p.G1020V	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1106	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)							T	IGH@|IGL@	B-ALL								---	---	---	---	capture		Missense_Mutation	SNP	147095796	147095796	1402	1	G	T	T	43	43	BCL9	T	2	2
RFX5	5993	broad.mit.edu	37	1	151316184	151316184	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151316184G>T	uc001exv.1	-	9	944	c.730C>A	c.(730-732)CAT>AAT	p.H244N	RFX5_uc001exw.1_Missense_Mutation_p.H244N|RFX5_uc009wmr.1_Missense_Mutation_p.H244N|RFX5_uc010pcx.1_Missense_Mutation_p.H204N	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	244						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---	capture		Missense_Mutation	SNP	151316184	151316184	13738	1	G	T	T	47	47	RFX5	T	2	2
SMCP	4184	broad.mit.edu	37	1	152857202	152857202	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152857202C>A	uc001fat.2	+	2	449	c.304C>A	c.(304-306)CAG>AAG	p.Q102K		NM_030663	NP_109588	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich	102					penetration of zona pellucida|sperm motility	mitochondrial membrane					0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---	capture		Missense_Mutation	SNP	152857202	152857202	15287	1	C	A	A	21	21	SMCP	A	2	2
UBAP2L	9898	broad.mit.edu	37	1	154221798	154221798	+	Silent	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154221798C>T	uc001fep.3	+	12	1265	c.1098C>T	c.(1096-1098)TTC>TTT	p.F366F	UBAP2L_uc009wot.2_Silent_p.F366F|UBAP2L_uc010pek.1_Silent_p.F358F|UBAP2L_uc010pel.1_Silent_p.F376F|UBAP2L_uc010pen.1_Silent_p.F280F	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	366					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		Silent	SNP	154221798	154221798	17395	1	C	T	T	29	29	UBAP2L	T	2	2
GBA	2629	broad.mit.edu	37	1	155208008	155208008	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155208008G>A	uc001fjh.2	-	6	828	c.678C>T	c.(676-678)ACC>ACT	p.T226T	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Silent_p.T113T|GBA_uc010pfx.1_Silent_p.T177T|GBA_uc001fji.2_Silent_p.T226T|GBA_uc001fjj.2_Silent_p.T226T|GBA_uc001fjk.2_Silent_p.T226T|GBA_uc001fjl.2_Silent_p.T226T|GBA_uc010pfy.1_Silent_p.T139T|GBA_uc009wqk.1_Silent_p.T139T	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	226					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			ovary(1)|skin(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)									Gaucher_disease_type_I				---	---	---	---	capture		Silent	SNP	155208008	155208008	6532	1	G	A	A	47	47	GBA	A	2	2
SMG5	23381	broad.mit.edu	37	1	156223290	156223290	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156223290C>T	uc001foc.3	-	17	2601	c.2452G>A	c.(2452-2454)GAA>AAA	p.E818K	SMG5_uc009wrv.2_Missense_Mutation_p.E303K	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	818	Potential.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156223290	156223290	15294	1	C	T	T	30	30	SMG5	T	2	2
C1orf85	112770	broad.mit.edu	37	1	156264624	156264624	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156264624G>T	uc001foh.2	-	2	317	c.304C>A	c.(304-306)CCT>ACT	p.P102T	C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_RNA|C1orf85_uc001foi.2_Missense_Mutation_p.P102T|C1orf85_uc009wrx.2_Missense_Mutation_p.P102T|C1orf85_uc001foj.2_Intron	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	kidney predominant protein NCU-G1 precursor	102	Lumenal (Potential).				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2	Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156264624	156264624	2138	1	G	T	T	43	43	C1orf85	T	2	2
ARHGEF11	9826	broad.mit.edu	37	1	156931483	156931483	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156931483G>T	uc001fqo.2	-	13	2145	c.1105C>A	c.(1105-1107)CTG>ATG	p.L369M	ARHGEF11_uc001fqn.2_Missense_Mutation_p.L409M	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	369	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156931483	156931483	910	1	G	T	T	35	35	ARHGEF11	T	2	2
SPTA1	6708	broad.mit.edu	37	1	158609764	158609764	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158609764G>A	uc001fst.1	-	34	4970	c.4771C>T	c.(4771-4773)CAT>TAT	p.H1591Y		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1591	Spectrin 15.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---	capture		Missense_Mutation	SNP	158609764	158609764	15630	1	G	A	A	45	45	SPTA1	A	2	2
OR6K2	81448	broad.mit.edu	37	1	158669494	158669494	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158669494G>A	uc001fsu.1	-	1	949	c.949C>T	c.(949-951)CCA>TCA	p.P317S		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	317	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)																	---	---	---	---	capture		Missense_Mutation	SNP	158669494	158669494	11612	1	G	A	A	44	44	OR6K2	A	2	2
OR6K6	128371	broad.mit.edu	37	1	158724623	158724623	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158724623G>T	uc001fsw.1	+	1	18	c.18G>T	c.(16-18)GTG>GTT	p.V6V		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)																	---	---	---	---	capture		Silent	SNP	158724623	158724623	11614	1	G	T	T	47	47	OR6K6	T	2	2
PYHIN1	149628	broad.mit.edu	37	1	158943453	158943453	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158943453C>A	uc001ftb.2	+	8	1621	c.1376C>A	c.(1375-1377)CCA>CAA	p.P459Q	PYHIN1_uc001ftc.2_Missense_Mutation_p.P450Q|PYHIN1_uc001ftd.2_Intron|PYHIN1_uc001fte.2_Intron	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	459					cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)																	---	---	---	---	capture		Missense_Mutation	SNP	158943453	158943453	13323	1	C	A	A	21	21	PYHIN1	A	2	2
OR10J1	26476	broad.mit.edu	37	1	159410499	159410499	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159410499G>T	uc010piv.1	+	1	951	c.951G>T	c.(949-951)GGG>GGT	p.G317G	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	317	Cytoplasmic (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)																	---	---	---	---	capture		Silent	SNP	159410499	159410499	11316	1	G	T	T	41	41	OR10J1	T	2	2
COPA	1314	broad.mit.edu	37	1	160261952	160261952	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160261952C>A	uc009wti.2	-	29	3391	c.2997G>T	c.(2995-2997)GTG>GTT	p.V999V	COPA_uc001fvv.3_Silent_p.V1008V	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	999					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---	capture		Silent	SNP	160261952	160261952	3865	1	C	A	A	21	21	COPA	A	2	2
ASTN1	460	broad.mit.edu	37	1	177030384	177030384	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:177030384C>A	uc001glc.2	-	2	513	c.301G>T	c.(301-303)GAG>TAG	p.E101*	ASTN1_uc001glb.1_Nonsense_Mutation_p.E101*|ASTN1_uc001gld.1_Nonsense_Mutation_p.E101*|ASTN1_uc009wwx.1_Nonsense_Mutation_p.E101*	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	101					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15																		---	---	---	---	capture		Nonsense_Mutation	SNP	177030384	177030384	1083	1	C	A	A	32	32	ASTN1	A	5	2
CEP350	9857	broad.mit.edu	37	1	180068043	180068043	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180068043G>C	uc001gnt.2	+	37	9495	c.9112G>C	c.(9112-9114)GAG>CAG	p.E3038Q	CEP350_uc009wxl.2_Missense_Mutation_p.E3037Q|CEP350_uc001gnv.2_Missense_Mutation_p.E1173Q|CEP350_uc001gnw.1_Missense_Mutation_p.E795Q|CEP350_uc001gnx.1_Missense_Mutation_p.E795Q	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	3038						centrosome|nucleus|spindle				ovary(4)	4																		---	---	---	---	capture		Missense_Mutation	SNP	180068043	180068043	3387	1	G	C	C	41	41	CEP350	C	3	3
TPR	7175	broad.mit.edu	37	1	186283765	186283765	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186283765C>G	uc001grv.2	-	50	7329	c.7032G>C	c.(7030-7032)CAG>CAC	p.Q2344H		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2344					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---	capture		Missense_Mutation	SNP	186283765	186283765	16960	1	C	G	G	32	32	TPR	G	3	3
FAM5C	339479	broad.mit.edu	37	1	190067764	190067764	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:190067764T>G	uc001gse.1	-	8	1917	c.1685A>C	c.(1684-1686)AAC>ACC	p.N562T	FAM5C_uc010pot.1_Missense_Mutation_p.N460T	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	562						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)																	---	---	---	---	capture		Missense_Mutation	SNP	190067764	190067764	5817	1	T	G	G	60	60	FAM5C	G	4	4
CFHR5	81494	broad.mit.edu	37	1	196952178	196952178	+	Silent	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196952178A>G	uc001gts.3	+	2	350	c.222A>G	c.(220-222)GAA>GAG	p.E74E		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	74	Sushi 1.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	196952178	196952178	3421	1	A	G	G	3	3	CFHR5	G	4	4
CACNA1S	779	broad.mit.edu	37	1	201012575	201012575	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201012575G>T	uc001gvv.2	-	40	5109	c.4882C>A	c.(4882-4884)CTC>ATC	p.L1628I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1628	Cytoplasmic (Potential).				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)											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	201012575	201012575	2663	1	G	T	T	35	35	CACNA1S	T	2	2
PPFIA4	8497	broad.mit.edu	37	1	203013100	203013100	+	Silent	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203013100A>G	uc009xaj.2	+	8	819	c.819A>G	c.(817-819)GAA>GAG	p.E273E	PPFIA4_uc010pqf.1_5'Flank			O75335	LIPA4_HUMAN	SubName: Full=Liprin alpha4;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5																		---	---	---	---	capture		Silent	SNP	203013100	203013100	12742	1	A	G	G	2	2	PPFIA4	G	4	4
MDM4	4194	broad.mit.edu	37	1	204507405	204507405	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204507405C>A	uc001hba.2	+	7	642	c.480C>A	c.(478-480)ACC>ACA	p.T160T	MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_RNA|MDM4_uc010pqx.1_Silent_p.T33T|MDM4_uc001hay.1_Silent_p.T160T|MDM4_uc001hbb.2_Silent_p.T33T|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_RNA|MDM4_uc009xbe.1_RNA	NM_002393	NP_002384	O15151	MDM4_HUMAN	mouse double minute 4 homolog	160					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding	p.T160S(1)		upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)					A		GBM|bladder|retinoblastoma								---	---	---	---	capture		Silent	SNP	204507405	204507405	9803	1	C	A	A	24	24	MDM4	A	2	2
CNTN2	6900	broad.mit.edu	37	1	205039002	205039002	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205039002G>A	uc001hbr.2	+	18	2513	c.2244G>A	c.(2242-2244)CTG>CTA	p.L748L	CNTN2_uc001hbq.1_Silent_p.L639L|CNTN2_uc001hbs.2_Silent_p.L536L	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	748	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)															---	---	---	---	capture		Silent	SNP	205039002	205039002	3779	1	G	A	A	48	48	CNTN2	A	2	2
CR1	1378	broad.mit.edu	37	1	207785045	207785045	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207785045C>A	uc001hfy.2	+	30	5109	c.4969C>A	c.(4969-4971)CTG>ATG	p.L1657M	CR1_uc001hfx.2_Missense_Mutation_p.L2107M	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1657	Sushi 26.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	207785045	207785045	3979	1	C	A	A	24	24	CR1	A	2	2
CR1L	1379	broad.mit.edu	37	1	207867834	207867834	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207867834G>T	uc001hga.3	+	5	721	c.600G>T	c.(598-600)GTG>GTT	p.V200V	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	200	Sushi 3.					cytoplasm|extracellular region|membrane					0																		---	---	---	---	capture		Silent	SNP	207867834	207867834	3980	1	G	T	T	47	47	CR1L	T	2	2
EPRS	2058	broad.mit.edu	37	1	220206850	220206850	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220206850G>T	uc001hly.1	-	4	652	c.382C>A	c.(382-384)CTA>ATA	p.L128I	EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.L128I|EPRS_uc009xdt.1_5'UTR	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	128					glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)													---	---	---	---	capture		Missense_Mutation	SNP	220206850	220206850	5384	1	G	T	T	35	35	EPRS	T	2	2
TLR5	7100	broad.mit.edu	37	1	223285482	223285482	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223285482C>A	uc001hnv.1	-	4	1338	c.892G>T	c.(892-894)GGG>TGG	p.G298W	TLR5_uc001hnw.1_Missense_Mutation_p.G298W	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	298	Extracellular (Potential).|LRR 5.				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)														---	---	---	---	capture		Missense_Mutation	SNP	223285482	223285482	16484	1	C	A	A	21	21	TLR5	A	2	2
ITPKB	3707	broad.mit.edu	37	1	226835066	226835066	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226835066G>T	uc010pvo.1	-	4	2388	c.2048C>A	c.(2047-2049)GCT>GAT	p.A683D		NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	683							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)																---	---	---	---	capture		Missense_Mutation	SNP	226835066	226835066	8222	1	G	T	T	34	34	ITPKB	T	2	2
ABCB10	23456	broad.mit.edu	37	1	229663013	229663013	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229663013G>T	uc001htp.3	-	9	1731	c.1688C>A	c.(1687-1689)CCA>CAA	p.P563Q		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	563	Mitochondrial intermembrane (Potential).|ABC transporter.|Mitochondrial matrix (Potential).			IRQLNP -> NPSAKPS (in Ref. 6; AAA84438).		integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)																---	---	---	---	capture		Missense_Mutation	SNP	229663013	229663013	42	1	G	T	T	47	47	ABCB10	T	2	2
ABCB10	23456	broad.mit.edu	37	1	229667459	229667459	+	Silent	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229667459C>T	uc001htp.3	-	7	1402	c.1359G>A	c.(1357-1359)TCG>TCA	p.S453S		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	453	Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.|Mitochondrial matrix (Potential).					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)																---	---	---	---	capture		Silent	SNP	229667459	229667459	42	1	C	T	T	23	23	ABCB10	T	1	1
MTR	4548	broad.mit.edu	37	1	237016288	237016288	+	Missense_Mutation	SNP	C	A	A	rs34421688		TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237016288C>A	uc001hyi.3	+	18	2276	c.1853C>A	c.(1852-1854)CCT>CAT	p.P618H	MTR_uc010pxw.1_Missense_Mutation_p.P211H|MTR_uc010pxx.1_Missense_Mutation_p.P618H|MTR_uc010pxy.1_Intron	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	618	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)													---	---	---	---	capture		Missense_Mutation	SNP	237016288	237016288	10351	1	C	A	A	24	24	MTR	A	2	2
RYR2	6262	broad.mit.edu	37	1	237729895	237729895	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237729895C>A	uc001hyl.1	+	28	3363	c.3243C>A	c.(3241-3243)ACC>ACA	p.T1081T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1081	Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---	capture		Silent	SNP	237729895	237729895	14249	1	C	A	A	23	23	RYR2	A	1	1
RYR2	6262	broad.mit.edu	37	1	237947823	237947823	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237947823G>T	uc001hyl.1	+	90	12931	c.12811G>T	c.(12811-12813)GTA>TTA	p.V4271L	RYR2_uc010pya.1_Missense_Mutation_p.V686L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4271					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---	capture		Missense_Mutation	SNP	237947823	237947823	14249	1	G	T	T	36	36	RYR2	T	2	2
CNST	163882	broad.mit.edu	37	1	246811036	246811036	+	Silent	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:246811036T>C	uc001ibp.2	+	9	1911	c.1533T>C	c.(1531-1533)TGT>TGC	p.C511C	CNST_uc001ibo.3_Silent_p.C511C	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	511					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0																		---	---	---	---	capture		Silent	SNP	246811036	246811036	3772	1	T	C	C	59	59	CNST	C	4	4
OR2B11	127623	broad.mit.edu	37	1	247614412	247614412	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247614412G>T	uc010pyx.1	-	1	873	c.873C>A	c.(871-873)CCC>CCA	p.P291P		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	291	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)															---	---	---	---	capture		Silent	SNP	247614412	247614412	11394	1	G	T	T	35	35	OR2B11	T	2	2
C1orf150	148823	broad.mit.edu	37	1	247737551	247737551	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247737551T>A	uc001idf.2	+	5	320	c.275T>A	c.(274-276)ATT>AAT	p.I92N	C1orf150_uc009xgw.2_RNA|C1orf150_uc001ida.3_RNA|C1orf150_uc001idb.3_RNA|C1orf150_uc009xgx.2_RNA	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	hypothetical protein LOC148823	92											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;0.0241)															---	---	---	---	capture		Missense_Mutation	SNP	247737551	247737551	2071	1	T	A	A	52	52	C1orf150	A	4	4
ZMYND11	10771	broad.mit.edu	37	10	293350	293350	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:293350C>G	uc010pzt.1	+	12	1599	c.1171C>G	c.(1171-1173)CAA>GAA	p.Q391E	ZMYND11_uc001ifk.2_Missense_Mutation_p.Q390E|ZMYND11_uc010pzu.1_Missense_Mutation_p.Q391E|ZMYND11_uc010pzv.1_Missense_Mutation_p.Q336E|ZMYND11_uc010pzw.1_Missense_Mutation_p.Q306E|ZMYND11_uc001ifm.2_Missense_Mutation_p.Q337E|ZMYND11_uc010pzx.1_Missense_Mutation_p.Q391E|ZMYND11_uc001ifn.2_Missense_Mutation_p.Q337E|ZMYND11_uc009xhg.2_Missense_Mutation_p.Q374E|ZMYND11_uc009xhh.2_Missense_Mutation_p.Q265E|ZMYND11_uc010pzy.1_Missense_Mutation_p.Q243E	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	351					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)														---	---	---	---	capture		Missense_Mutation	SNP	293350	293350	18297	10	C	G	G	29	29	ZMYND11	G	3	3
CUBN	8029	broad.mit.edu	37	10	16949629	16949629	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16949629C>T	uc001ioo.2	-	49	7635	c.7583G>A	c.(7582-7584)AGT>AAT	p.S2528N	CUBN_uc009xjq.1_Intron|CUBN_uc009xjr.1_Intron	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2528	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---	capture		Missense_Mutation	SNP	16949629	16949629	4211	10	C	T	T	20	20	CUBN	T	2	2
PARD3	56288	broad.mit.edu	37	10	34408612	34408612	+	Missense_Mutation	SNP	C	G	G	rs12359558		TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:34408612C>G	uc010qej.1	-	24	3606	c.3606G>C	c.(3604-3606)CAG>CAC	p.Q1202H	PARD3_uc010qek.1_Missense_Mutation_p.Q1199H|PARD3_uc010qel.1_Missense_Mutation_p.Q1165H|PARD3_uc010qem.1_Missense_Mutation_p.Q1186H|PARD3_uc010qen.1_Missense_Mutation_p.Q1156H|PARD3_uc010qeo.1_Missense_Mutation_p.Q1119H|PARD3_uc010qep.1_Missense_Mutation_p.Q1112H|PARD3_uc010qeq.1_Missense_Mutation_p.Q1090H	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	1202	Potential.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)																---	---	---	---	capture		Missense_Mutation	SNP	34408612	34408612	11860	10	C	G	G	32	32	PARD3	G	3	3
ANKRD30A	91074	broad.mit.edu	37	10	37440993	37440993	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:37440993A>T	uc001iza.1	+	12	1582	c.1483A>T	c.(1483-1485)ATG>TTG	p.M495L		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	551						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	37440993	37440993	663	10	A	T	T	12	12	ANKRD30A	T	4	4
ANKRD30A	91074	broad.mit.edu	37	10	37442554	37442554	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:37442554C>G	uc001iza.1	+	13	1693	c.1594C>G	c.(1594-1596)CAA>GAA	p.Q532E		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	588						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	37442554	37442554	663	10	C	G	G	29	29	ANKRD30A	G	3	3
ANKRD30A	91074	broad.mit.edu	37	10	37478449	37478449	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:37478449C>G	uc001iza.1	+	25	2407	c.2308C>G	c.(2308-2310)CAA>GAA	p.Q770E		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	826						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	37478449	37478449	663	10	C	G	G	29	29	ANKRD30A	G	3	3
CDK1	983	broad.mit.edu	37	10	62544477	62544477	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:62544477G>C	uc001jld.2	+	3	186	c.52G>C	c.(52-54)GTG>CTG	p.V18L	CDK1_uc010qii.1_Missense_Mutation_p.V18L|CDK1_uc001jle.2_RNA|CDK1_uc001jlf.2_Missense_Mutation_p.V18L|CDK1_uc001jlg.2_Missense_Mutation_p.V18L	NM_001786	NP_001777	P06493	CDK1_HUMAN	cell division cycle 2 isoform 1	18	ATP (By similarity).|Protein kinase.				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	62544477	62544477	3253	10	G	C	C	48	48	CDK1	C	3	3
CTNNA3	29119	broad.mit.edu	37	10	68280473	68280473	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:68280473G>T	uc009xpn.1	-	11	1556	c.1433C>A	c.(1432-1434)ACC>AAC	p.T478N	CTNNA3_uc001jmw.2_Missense_Mutation_p.T478N|CTNNA3_uc001jmx.3_Missense_Mutation_p.T478N	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	478					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	68280473	68280473	4173	10	G	T	T	44	44	CTNNA3	T	2	2
HERC4	26091	broad.mit.edu	37	10	69700823	69700823	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:69700823T>A	uc001jng.3	-	21	2712	c.2401A>T	c.(2401-2403)ATC>TTC	p.I801F	HERC4_uc009xpq.2_Missense_Mutation_p.I334F|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.I793F|HERC4_uc009xpr.2_Intron|HERC4_uc001jni.3_Missense_Mutation_p.I537F	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	801	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	69700823	69700823	7343	10	T	A	A	49	49	HERC4	A	4	4
STOX1	219736	broad.mit.edu	37	10	70644923	70644923	+	Silent	SNP	T	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70644923T>A	uc001jos.2	+	3	1458	c.1371T>A	c.(1369-1371)GCT>GCA	p.A457A	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Silent_p.A347A	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	457						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	70644923	70644923	15839	10	T	A	A	53	53	STOX1	A	4	4
P4HA1	5033	broad.mit.edu	37	10	74810828	74810828	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:74810828C>A	uc010qka.1	-	8	1217	c.883G>T	c.(883-885)GGG>TGG	p.G295W	P4HA1_uc001jtg.2_Missense_Mutation_p.G295W|P4HA1_uc001jth.2_Missense_Mutation_p.G295W|P4HA1_uc010qkb.1_Missense_Mutation_p.G295W|P4HA1_uc001jti.2_RNA	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha I subunit isoform 2	295						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			ovary(1)	1	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---	capture		Missense_Mutation	SNP	74810828	74810828	11769	10	C	A	A	21	21	P4HA1	A	2	2
SEC24C	9632	broad.mit.edu	37	10	75520083	75520083	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75520083C>A	uc001juw.2	+	6	968	c.789C>A	c.(787-789)CCC>CCA	p.P263P	SEC24C_uc010qkn.1_RNA|SEC24C_uc009xrj.1_Silent_p.P121P|SEC24C_uc001jux.2_Silent_p.P263P|SEC24C_uc010qko.1_Silent_p.P121P|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	NM_004922	NP_004913	P53992	SC24C_HUMAN	SEC24-related protein C	263					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			skin(2)|central_nervous_system(1)	3	Prostate(51;0.0112)																	---	---	---	---	capture		Silent	SNP	75520083	75520083	14482	10	C	A	A	22	22	SEC24C	A	2	2
NDST2	8509	broad.mit.edu	37	10	75562762	75562762	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75562762G>C	uc001jvk.2	-	13	3195	c.2391C>G	c.(2389-2391)ATC>ATG	p.I797M	NDST2_uc010qks.1_Missense_Mutation_p.I423M|NDST2_uc010qkt.1_Missense_Mutation_p.I674M|NDST2_uc001jvl.1_Missense_Mutation_p.I204M|NDST2_uc009xro.2_Missense_Mutation_p.I423M|NDST2_uc010qku.1_Missense_Mutation_p.I672M	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	797	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)																	---	---	---	---	capture		Missense_Mutation	SNP	75562762	75562762	10655	10	G	C	C	45	45	NDST2	C	3	3
NRG3	10718	broad.mit.edu	37	10	84711279	84711279	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:84711279G>A	uc001kco.2	+	5	1136	c.1109G>A	c.(1108-1110)GGA>GAA	p.G370E	NRG3_uc010qlz.1_Missense_Mutation_p.G369E|NRG3_uc001kcp.2_Missense_Mutation_p.G149E|NRG3_uc001kcq.2_Missense_Mutation_p.G20E|NRG3_uc001kcr.2_Missense_Mutation_p.G20E	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	370	Helical; Note=Internal signal sequence; (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)														---	---	---	---	capture		Missense_Mutation	SNP	84711279	84711279	11054	10	G	A	A	41	41	NRG3	A	2	2
ATAD1	84896	broad.mit.edu	37	10	89544272	89544272	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89544272G>T	uc001key.1	-	4	821	c.538C>A	c.(538-540)CTT>ATT	p.L180I	ATAD1_uc010qmr.1_Missense_Mutation_p.L122I|ATAD1_uc009xth.1_RNA|ATAD1_uc001kez.1_Missense_Mutation_p.L180I	NM_032810	NP_116199	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	180						peroxisome	ATP binding|nucleoside-triphosphatase activity			large_intestine(1)|ovary(1)	2		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)														---	---	---	---	capture		Missense_Mutation	SNP	89544272	89544272	1089	10	G	T	T	35	35	ATAD1	T	2	2
IFIT1	3434	broad.mit.edu	37	10	91162570	91162570	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:91162570G>T	uc001kgi.2	+	2	686	c.538G>T	c.(538-540)GGG>TGG	p.G180W	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|IFIT1_uc009xtt.2_Missense_Mutation_p.G180W|IFIT1_uc001kgj.2_Missense_Mutation_p.G149W	NM_001548	NP_001539	P09914	IFIT1_HUMAN	interferon-induced protein with	180					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	91162570	91162570	7822	10	G	T	T	47	47	IFIT1	T	2	2
SORBS1	10580	broad.mit.edu	37	10	97174445	97174445	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97174445T>G	uc001kkp.2	-	7	661	c.616A>C	c.(616-618)ACT>CCT	p.T206P	SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.T206P|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Missense_Mutation_p.T174P|SORBS1_uc001kkw.2_Missense_Mutation_p.T206P|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Missense_Mutation_p.T404P|SORBS1_uc001kkx.1_Missense_Mutation_p.T174P	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	206					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)														---	---	---	---	capture		Missense_Mutation	SNP	97174445	97174445	15427	10	T	G	G	58	58	SORBS1	G	4	4
C10orf76	79591	broad.mit.edu	37	10	103792914	103792914	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103792914G>A	uc009xwy.1	-	4	277	c.175C>T	c.(175-177)CTA>TTA	p.L59L	C10orf76_uc001kui.2_Silent_p.L59L	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	59						integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)														---	---	---	---	capture		Silent	SNP	103792914	103792914	1653	10	G	A	A	35	35	C10orf76	A	2	2
SMC3	9126	broad.mit.edu	37	10	112359487	112359487	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112359487G>T	uc001kze.2	+	21	2470	c.2344G>T	c.(2344-2346)GGA>TGA	p.G782*		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	782	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)														---	---	---	---	capture		Nonsense_Mutation	SNP	112359487	112359487	15282	10	G	T	T	43	43	SMC3	T	5	2
ATRNL1	26033	broad.mit.edu	37	10	117226718	117226718	+	Nonsense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:117226718C>G	uc001lcg.2	+	23	3838	c.3452C>G	c.(3451-3453)TCA>TGA	p.S1151*	ATRNL1_uc010qsm.1_Nonsense_Mutation_p.S280*|ATRNL1_uc010qsn.1_Intron	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1151	Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)														---	---	---	---	capture		Nonsense_Mutation	SNP	117226718	117226718	1226	10	C	G	G	29	29	ATRNL1	G	5	3
FGFR2	2263	broad.mit.edu	37	10	123263411	123263411	+	Silent	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123263411C>G	uc010qtk.1	-	11	1979	c.1332G>C	c.(1330-1332)CTG>CTC	p.L444L	FGFR2_uc010qtg.1_Silent_p.L332L|FGFR2_uc010qth.1_Silent_p.L329L|FGFR2_uc010qti.1_Silent_p.L355L|FGFR2_uc010qtj.1_Silent_p.L445L|FGFR2_uc010qtl.1_Silent_p.L328L|FGFR2_uc010qtm.1_Silent_p.L327L|FGFR2_uc001lfl.3_Silent_p.L445L|FGFR2_uc001lfm.2_Silent_p.L356L|FGFR2_uc001lfg.3_Silent_p.L52L	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	444	Cytoplasmic (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				---	---	---	---	capture		Silent	SNP	123263411	123263411	6103	10	C	G	G	21	21	FGFR2	G	3	3
ZRANB1	54764	broad.mit.edu	37	10	126631403	126631403	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:126631403G>T	uc001lic.2	+	1	712	c.341G>T	c.(340-342)AGG>ATG	p.R114M	ZRANB1_uc010qug.1_Missense_Mutation_p.R140M	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	114					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)														---	---	---	---	capture		Missense_Mutation	SNP	126631403	126631403	18826	10	G	T	T	35	35	ZRANB1	T	2	2
MKI67	4288	broad.mit.edu	37	10	129907016	129907016	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129907016C>A	uc001lke.2	-	13	3283	c.3088G>T	c.(3088-3090)GGG>TGG	p.G1030W	MKI67_uc001lkf.2_Missense_Mutation_p.G670W|MKI67_uc009yav.1_Missense_Mutation_p.G605W|MKI67_uc009yaw.1_Missense_Mutation_p.G180W	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1030	16 X 122 AA approximate repeats.|1.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---	capture		Missense_Mutation	SNP	129907016	129907016	9988	10	C	A	A	22	22	MKI67	A	2	2
LRRC27	80313	broad.mit.edu	37	10	134175004	134175004	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134175004G>T	uc010quw.1	+	9	1409	c.1214G>T	c.(1213-1215)AGG>ATG	p.R405M	LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Missense_Mutation_p.R405M|LRRC27_uc001llj.2_Missense_Mutation_p.R343M|LRRC27_uc001llk.3_Missense_Mutation_p.R278M	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27 isoform a	405										ovary(1)	1		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)														---	---	---	---	capture		Missense_Mutation	SNP	134175004	134175004	9356	10	G	T	T	35	35	LRRC27	T	2	2
OR51M1	390059	broad.mit.edu	37	11	5410783	5410783	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5410783C>T	uc010qzc.1	+	1	155	c.155C>T	c.(154-156)TCA>TTA	p.S52L	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M,	52						integral to membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	5410783	5410783	11513	11	C	T	T	29	29	OR51M1	T	2	2
OR51I1	390063	broad.mit.edu	37	11	5462289	5462289	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5462289G>T	uc010qze.1	-	1	456	c.456C>A	c.(454-456)ACC>ACA	p.T152T	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Silent	SNP	5462289	5462289	11510	11	G	T	T	47	47	OR51I1	T	2	2
OR52N1	79473	broad.mit.edu	37	11	5809636	5809636	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5809636G>A	uc010qzo.1	-	1	411	c.411C>T	c.(409-411)ATC>ATT	p.I137I	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)														---	---	---	---	capture		Silent	SNP	5809636	5809636	11537	11	G	A	A	41	41	OR52N1	A	2	2
OR52W1	120787	broad.mit.edu	37	11	6221231	6221231	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6221231G>T	uc010qzz.1	+	1	778	c.778G>T	c.(778-780)GGT>TGT	p.G260C		NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W,	260	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	6221231	6221231	11542	11	G	T	T	47	47	OR52W1	T	2	2
OR10A4	283297	broad.mit.edu	37	11	6898702	6898702	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6898702T>A	uc010rat.1	+	1	824	c.824T>A	c.(823-825)CTG>CAG	p.L275Q		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	275	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)														---	---	---	---	capture		Missense_Mutation	SNP	6898702	6898702	11298	11	T	A	A	55	55	OR10A4	A	4	4
NLRP14	338323	broad.mit.edu	37	11	7064098	7064098	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7064098C>A	uc001mfb.1	+	4	1164	c.841C>A	c.(841-843)CAA>AAA	p.Q281K		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	281	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)														---	---	---	---	capture		Missense_Mutation	SNP	7064098	7064098	10879	11	C	A	A	21	21	NLRP14	A	2	2
SWAP70	23075	broad.mit.edu	37	11	9715738	9715738	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9715738C>A	uc001mhw.2	+	2	244	c.145C>A	c.(145-147)CCA>ACA	p.P49T	SWAP70_uc001mhv.2_Missense_Mutation_p.P49T|SWAP70_uc001mhx.2_Missense_Mutation_p.P49T	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN	SWAP-70 protein	49						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			ovary(2)|central_nervous_system(1)	3				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)														---	---	---	---	capture		Missense_Mutation	SNP	9715738	9715738	15945	11	C	A	A	22	22	SWAP70	A	2	2
SWAP70	23075	broad.mit.edu	37	11	9759834	9759834	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9759834C>A	uc001mhw.2	+	8	1254	c.1155C>A	c.(1153-1155)GCC>GCA	p.A385A	SWAP70_uc001mhv.2_Silent_p.A385A|SWAP70_uc001mhx.2_Silent_p.A327A	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN	SWAP-70 protein	385	Potential.			A -> S (in Ref. 7).		cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			ovary(2)|central_nervous_system(1)	3				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)														---	---	---	---	capture		Silent	SNP	9759834	9759834	15945	11	C	A	A	21	21	SWAP70	A	2	2
CALCA	796	broad.mit.edu	37	11	14989390	14989390	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14989390G>T	uc001mlt.1	-	4	313	c.238C>A	c.(238-240)CAG>AAG	p.Q80K	CALCA_uc001mlu.1_RNA	NM_001033953	NP_001029125	P06881	CALCA_HUMAN	calcitonin isoform CGRP preproprotein	80					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity	p.P80S(1)		central_nervous_system(1)	1					Phentolamine(DB00692)													---	---	---	---	capture		Missense_Mutation	SNP	14989390	14989390	2691	11	G	T	T	47	47	CALCA	T	2	2
ABCC8	6833	broad.mit.edu	37	11	17430031	17430031	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17430031C>A	uc001mnc.2	-	23	2854	c.2728G>T	c.(2728-2730)GAG>TAG	p.E910*		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	910	ABC transporter 1.|Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)													---	---	---	---	capture		Nonsense_Mutation	SNP	17430031	17430031	59	11	C	A	A	30	30	ABCC8	A	5	2
USH1C	10083	broad.mit.edu	37	11	17554867	17554867	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17554867C>A	uc001mnf.2	-	2	148	c.39G>T	c.(37-39)GTG>GTT	p.V13V	USH1C_uc001mne.2_Silent_p.V13V|USH1C_uc009yhb.2_Silent_p.V13V|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_5'UTR	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	13					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	17554867	17554867	17596	11	C	A	A	21	21	USH1C	A	2	2
E2F8	79733	broad.mit.edu	37	11	19246901	19246901	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:19246901G>T	uc001mpm.2	-	12	2810	c.2288C>A	c.(2287-2289)CCA>CAA	p.P763Q	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.P763Q	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	763					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	19246901	19246901	5059	11	G	T	T	47	47	E2F8	T	2	2
NAV2	89797	broad.mit.edu	37	11	19954754	19954754	+	Nonsense_Mutation	SNP	G	T	T	rs142429988		TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:19954754G>T	uc010rdm.1	+	8	1394	c.1033G>T	c.(1033-1035)GGA>TGA	p.G345*	NAV2_uc001mpp.2_Nonsense_Mutation_p.G258*|NAV2_uc001mpr.3_Nonsense_Mutation_p.G322*	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	345						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6																		---	---	---	---	capture		Nonsense_Mutation	SNP	19954754	19954754	10580	11	G	T	T	39	39	NAV2	T	5	1
EIF3M	10480	broad.mit.edu	37	11	32615473	32615473	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32615473C>A	uc001mtu.2	+	6	638	c.595C>A	c.(595-597)CAG>AAG	p.Q199K	EIF3M_uc010ref.1_Missense_Mutation_p.Q67K	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3,	199						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)|breast(1)|skin(1)	3	Breast(20;0.109)																	---	---	---	---	capture		Missense_Mutation	SNP	32615473	32615473	5214	11	C	A	A	21	21	EIF3M	A	2	2
FNBP4	23360	broad.mit.edu	37	11	47746088	47746088	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47746088G>T	uc009ylv.2	-	13	2404	c.2251C>A	c.(2251-2253)CCT>ACT	p.P751T	FNBP4_uc001ngi.2_Missense_Mutation_p.P65T|FNBP4_uc001ngj.2_Missense_Mutation_p.P658T|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	751										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	47746088	47746088	6209	11	G	T	T	43	43	FNBP4	T	2	2
FNBP4	23360	broad.mit.edu	37	11	47767661	47767661	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47767661C>G	uc009ylv.2	-	7	1345	c.1192G>C	c.(1192-1194)GAG>CAG	p.E398Q	FNBP4_uc001ngj.2_Missense_Mutation_p.E305Q|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	398										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	47767661	47767661	6209	11	C	G	G	30	30	FNBP4	G	3	3
OR5D16	390144	broad.mit.edu	37	11	55606318	55606318	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55606318T>A	uc010rio.1	+	1	91	c.91T>A	c.(91-93)TTT>ATT	p.F31I		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_epithelial(135;0.208)																---	---	---	---	capture		Missense_Mutation	SNP	55606318	55606318	11566	11	T	A	A	56	56	OR5D16	A	4	4
OR5D16	390144	broad.mit.edu	37	11	55606815	55606815	+	Silent	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55606815C>T	uc010rio.1	+	1	588	c.588C>T	c.(586-588)CTC>CTT	p.L196L		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	196	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_epithelial(135;0.208)																---	---	---	---	capture		Silent	SNP	55606815	55606815	11566	11	C	T	T	29	29	OR5D16	T	2	2
OR5M10	390167	broad.mit.edu	37	11	56344480	56344480	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56344480T>A	uc001niz.1	-	1	718	c.718A>T	c.(718-720)ACG>TCG	p.T240S		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	56344480	56344480	11583	11	T	A	A	57	57	OR5M10	A	4	4
LRRC55	219527	broad.mit.edu	37	11	56949826	56949826	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56949826C>A	uc001njl.1	+	1	606	c.459C>A	c.(457-459)CTC>CTA	p.L153L		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	123	LRR 2.					integral to membrane					0																		---	---	---	---	capture		Silent	SNP	56949826	56949826	9386	11	C	A	A	30	30	LRRC55	A	2	2
OR1S1	219959	broad.mit.edu	37	11	57982933	57982933	+	Silent	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57982933G>C	uc010rkc.1	+	1	717	c.717G>C	c.(715-717)CTG>CTC	p.L239L		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	239	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)																---	---	---	---	capture		Silent	SNP	57982933	57982933	11378	11	G	C	C	45	45	OR1S1	C	3	3
OR5B17	219965	broad.mit.edu	37	11	58126157	58126157	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58126157T>C	uc010rke.1	-	1	386	c.386A>G	c.(385-387)CAT>CGT	p.H129R		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)																---	---	---	---	capture		Missense_Mutation	SNP	58126157	58126157	11559	11	T	C	C	51	51	OR5B17	C	4	4
GLYAT	10249	broad.mit.edu	37	11	58491902	58491902	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58491902G>T	uc001nnb.2	-	2	223	c.68C>A	c.(67-69)CCA>CAA	p.P23Q	GLYAT_uc001nnc.2_Missense_Mutation_p.P23Q	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase isoform a	23					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity				0		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)													---	---	---	---	capture		Missense_Mutation	SNP	58491902	58491902	6747	11	G	T	T	47	47	GLYAT	T	2	2
VWCE	220001	broad.mit.edu	37	11	61026151	61026151	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61026151A>G	uc001nra.2	-	20	3143	c.2864T>C	c.(2863-2865)ATG>ACG	p.M955T	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	955						extracellular region	calcium ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	61026151	61026151	17816	11	A	G	G	8	8	VWCE	G	4	4
ROM1	6094	broad.mit.edu	37	11	62382190	62382190	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62382190C>A	uc001ntv.2	+	3	1476	c.935C>A	c.(934-936)CCC>CAC	p.P312H	EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	312	Cytoplasmic (Potential).				cell adhesion|visual perception	integral to plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	62382190	62382190	14000	11	C	A	A	22	22	ROM1	A	2	2
TAF6L	10629	broad.mit.edu	37	11	62545465	62545465	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62545465G>T	uc001nvc.2	+	4	351	c.250G>T	c.(250-252)GGA>TGA	p.G84*	TAF6L_uc010rmg.1_Nonsense_Mutation_p.G84*|TAF6L_uc009yof.2_Nonsense_Mutation_p.G84*	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II	84					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			ovary(3)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	62545465	62545465	16052	11	G	T	T	39	39	TAF6L	T	5	1
SLC3A2	6520	broad.mit.edu	37	11	62652761	62652761	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62652761G>T	uc001nwd.2	+	9	1458	c.1234G>T	c.(1234-1236)GGG>TGG	p.G412W	SLC3A2_uc001nwb.2_Missense_Mutation_p.G443W|SLC3A2_uc001nwc.2_Missense_Mutation_p.G413W|SLC3A2_uc001nwe.2_Missense_Mutation_p.G381W|SLC3A2_uc001nwf.2_Missense_Mutation_p.G350W|SLC3A2_uc001nwg.2_Missense_Mutation_p.G311W	NM_002394	NP_002385	P08195	4F2_HUMAN	solute carrier family 3, member 2 isoform c	412	Extracellular (Potential).			GE -> PQ (in Ref. 4; AAA35536).	blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	62652761	62652761	15124	11	G	T	T	47	47	SLC3A2	T	2	2
NUDT22	84304	broad.mit.edu	37	11	63997406	63997406	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63997406C>T	uc001nyp.3	+	6	1036	c.856C>T	c.(856-858)CAG>TAG	p.Q286*	NUDT22_uc009ype.2_Nonsense_Mutation_p.Q286*|NUDT22_uc001nyq.3_Nonsense_Mutation_p.Q253*|NUDT22_uc010rng.1_RNA|uc001nyr.1_3'UTR|DNAJC4_uc001nys.2_5'Flank|DNAJC4_uc001nyt.2_5'Flank|DNAJC4_uc001nyu.2_5'Flank	NM_032344	NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety	286							hydrolase activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	63997406	63997406	11144	11	C	T	T	29	29	NUDT22	T	5	2
EHBP1L1	254102	broad.mit.edu	37	11	65357998	65357998	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65357998G>C	uc001oeo.3	+	16	4483	c.4218G>C	c.(4216-4218)CAG>CAC	p.Q1406H		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	1406	Potential.									central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	65357998	65357998	5165	11	G	C	C	35	35	EHBP1L1	C	3	3
PPFIA1	8500	broad.mit.edu	37	11	70200458	70200458	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70200458G>A	uc001opo.2	+	17	2413	c.2215G>A	c.(2215-2217)GAA>AAA	p.E739K	PPFIA1_uc001opn.1_Missense_Mutation_p.E739K|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	739					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)															---	---	---	---	capture		Missense_Mutation	SNP	70200458	70200458	12739	11	G	A	A	45	45	PPFIA1	A	2	2
ATG16L2	89849	broad.mit.edu	37	11	72540025	72540025	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:72540025C>A	uc001otd.2	+	17	1808	c.1768C>A	c.(1768-1770)CAT>AAT	p.H590N	ATG16L2_uc001ote.2_Missense_Mutation_p.H484N|ATG16L2_uc009ytj.1_Intron|ATG16L2_uc001otf.2_Missense_Mutation_p.H345N|ATG16L2_uc001otg.2_Missense_Mutation_p.H324N|ATG16L2_uc009ytk.2_Intron	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	ATG16 autophagy related 16-like 2	590	WD 7.				autophagy|protein transport	cytoplasm	protein binding				0			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)															---	---	---	---	capture		Missense_Mutation	SNP	72540025	72540025	1111	11	C	A	A	21	21	ATG16L2	A	2	2
ARHGEF17	9828	broad.mit.edu	37	11	73022151	73022151	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:73022151C>A	uc001otu.2	+	1	2489	c.2468C>A	c.(2467-2469)CCC>CAC	p.P823H		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	823					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	73022151	73022151	914	11	C	A	A	22	22	ARHGEF17	A	2	2
XRRA1	143570	broad.mit.edu	37	11	74632287	74632287	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74632287G>T	uc009yub.2	-	8	936	c.604C>A	c.(604-606)CTG>ATG	p.L202M	XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovo.2_Translation_Start_Site|XRRA1_uc001ovq.3_Missense_Mutation_p.L202M|XRRA1_uc001ovp.3_Translation_Start_Site|XRRA1_uc001ovr.2_Translation_Start_Site	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	202	LRR 4.				response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	74632287	74632287	18044	11	G	T	T	35	35	XRRA1	T	2	2
PCF11	51585	broad.mit.edu	37	11	82895750	82895750	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:82895750C>A	uc001ozx.3	+	16	4827	c.4482C>A	c.(4480-4482)CCC>CCA	p.P1494P		NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	1494					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1																		---	---	---	---	capture		Silent	SNP	82895750	82895750	11993	11	C	A	A	21	21	PCF11	A	2	2
PICALM	8301	broad.mit.edu	37	11	85701351	85701351	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:85701351G>A	uc001pbm.2	-	13	1636	c.1350C>T	c.(1348-1350)TCC>TCT	p.S450S	PICALM_uc001pbl.2_Intron|PICALM_uc001pbn.2_Silent_p.S443S|PICALM_uc010rtl.1_Intron|PICALM_uc010rtk.1_Intron|PICALM_uc001pbo.1_Silent_p.S82S	NM_007166	NP_009097	Q13492	PICAL_HUMAN	phosphatidylinositol-binding clathrin assembly	450					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			urinary_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)						T	MLLT10|MLL	TALL|AML|								---	---	---	---	capture		Silent	SNP	85701351	85701351	12304	11	G	A	A	47	47	PICALM	A	2	2
NAALAD2	10003	broad.mit.edu	37	11	89896494	89896494	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89896494G>T	uc001pdf.3	+	10	1201	c.1092G>T	c.(1090-1092)CTG>CTT	p.L364L	NAALAD2_uc009yvx.2_Silent_p.L331L|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Silent_p.L271L	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	364	Extracellular (Potential).|NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)																---	---	---	---	capture		Silent	SNP	89896494	89896494	10523	11	G	T	T	47	47	NAALAD2	T	2	2
ZC3H12C	85463	broad.mit.edu	37	11	110036441	110036441	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:110036441G>T	uc009yxw.2	+	6	2682	c.2631G>T	c.(2629-2631)GAG>GAT	p.E877D	ZC3H12C_uc010rwc.1_Missense_Mutation_p.E878D|ZC3H12C_uc010rwd.1_Missense_Mutation_p.E878D|ZC3H12C_uc001pkr.3_Missense_Mutation_p.E846D	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	877							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)														---	---	---	---	capture		Missense_Mutation	SNP	110036441	110036441	18151	11	G	T	T	33	33	ZC3H12C	T	2	2
USP28	57646	broad.mit.edu	37	11	113704153	113704153	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113704153C>A	uc001poh.2	-	7	781	c.748G>T	c.(748-750)GAG>TAG	p.E250*	USP28_uc010rwy.1_Nonsense_Mutation_p.E125*|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Nonsense_Mutation_p.E250*|USP28_uc010rwz.1_Nonsense_Mutation_p.E250*	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	250					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)														---	---	---	---	capture		Nonsense_Mutation	SNP	113704153	113704153	17622	11	C	A	A	29	29	USP28	A	5	2
CEP164	22897	broad.mit.edu	37	11	117242073	117242073	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117242073C>A	uc001prc.2	+	9	1190	c.1043C>A	c.(1042-1044)CCA>CAA	p.P348Q	CEP164_uc001prb.2_Missense_Mutation_p.P348Q|CEP164_uc010rxk.1_Missense_Mutation_p.P322Q|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	348					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)														---	---	---	---	capture		Missense_Mutation	SNP	117242073	117242073	3382	11	C	A	A	21	21	CEP164	A	2	2
AMICA1	120425	broad.mit.edu	37	11	118074319	118074319	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118074319C>A	uc001psk.2	-	6	770	c.596G>T	c.(595-597)TGG>TTG	p.W199L	AMICA1_uc001psg.2_Missense_Mutation_p.W9L|AMICA1_uc001psh.2_Missense_Mutation_p.W160L|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.W189L|AMICA1_uc001psj.2_Missense_Mutation_p.W188L|AMICA1_uc010rxw.1_Missense_Mutation_p.W160L|AMICA1_uc010rxx.1_Missense_Mutation_p.W199L|AMICA1_uc001psl.1_Missense_Mutation_p.W155L	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen	199	Ig-like V-type 2.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)														---	---	---	---	capture		Missense_Mutation	SNP	118074319	118074319	577	11	C	A	A	21	21	AMICA1	A	2	2
TECTA	7007	broad.mit.edu	37	11	121038839	121038839	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:121038839G>T	uc010rzo.1	+	18	5663	c.5663G>T	c.(5662-5664)AGG>ATG	p.R1888M		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1888	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)														---	---	---	---	capture		Missense_Mutation	SNP	121038839	121038839	16274	11	G	T	T	35	35	TECTA	T	2	2
OR10G9	219870	broad.mit.edu	37	11	123893777	123893777	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123893777G>T	uc010sad.1	+	1	58	c.58G>T	c.(58-60)GGG>TGG	p.G20W		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)														---	---	---	---	capture		Missense_Mutation	SNP	123893777	123893777	11310	11	G	T	T	35	35	OR10G9	T	2	2
VSIG2	23584	broad.mit.edu	37	11	124617490	124617490	+	Nonsense_Mutation	SNP	T	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124617490T>A	uc001qas.2	-	7	1001	c.925A>T	c.(925-927)AGA>TGA	p.R309*		NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	309	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)														---	---	---	---	capture		Nonsense_Mutation	SNP	124617490	124617490	17792	11	T	A	A	56	56	VSIG2	A	5	4
JAM3	83700	broad.mit.edu	37	11	134014177	134014177	+	Silent	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134014177C>T	uc001qhb.1	+	4	457	c.433C>T	c.(433-435)CTG>TTG	p.L145L	JAM3_uc009zcz.1_Intron	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3 precursor	100	Extracellular (Potential).|Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)														---	---	---	---	capture		Silent	SNP	134014177	134014177	8248	11	C	T	T	24	24	JAM3	T	2	2
RAD52	5893	broad.mit.edu	37	12	1042218	1042218	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1042218C>A	uc001qis.1	-	2	121	c.7G>T	c.(7-9)GGG>TGG	p.G3W	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Intron|RAD52_uc001qiu.1_Missense_Mutation_p.G3W|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA|RAD52_uc010sdu.1_Missense_Mutation_p.G3W|RAD52_uc001qix.1_Missense_Mutation_p.G3W	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	3					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)										Homologous_recombination					---	---	---	---	capture		Missense_Mutation	SNP	1042218	1042218	13451	12	C	A	A	21	21	RAD52	A	2	2
VWF	7450	broad.mit.edu	37	12	6061676	6061676	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6061676T>C	uc001qnn.1	-	49	8246	c.7996A>G	c.(7996-7998)ACG>GCG	p.T2666A	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2666					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)													---	---	---	---	capture		Missense_Mutation	SNP	6061676	6061676	17818	12	T	C	C	58	58	VWF	C	4	4
RBP5	83758	broad.mit.edu	37	12	7277313	7277313	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7277313C>A	uc001qsq.2	-	3	361	c.266G>T	c.(265-267)TGG>TTG	p.W89L		NM_031491	NP_113679	P82980	RET5_HUMAN	retinol binding protein 5, cellular	89						cytoplasm	retinal binding|retinol binding|transporter activity			ovary(1)	1					Vitamin A(DB00162)													---	---	---	---	capture		Missense_Mutation	SNP	7277313	7277313	13628	12	C	A	A	21	21	RBP5	A	2	2
CD163	9332	broad.mit.edu	37	12	7635983	7635983	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7635983T>C	uc001qsz.3	-	12	3196	c.3068A>G	c.(3067-3069)GAC>GGC	p.D1023G	CD163_uc001qta.3_Missense_Mutation_p.D1023G|CD163_uc009zfw.2_Missense_Mutation_p.D1056G	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	1023	SRCR 9.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	7635983	7635983	3094	12	T	C	C	58	58	CD163	C	4	4
DDX47	51202	broad.mit.edu	37	12	12967103	12967103	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:12967103G>T	uc001rav.2	+	5	724	c.126G>T	c.(124-126)TTG>TTT	p.L42F	DDX47_uc009zhw.1_Missense_Mutation_p.L42F|DDX47_uc001rax.2_Missense_Mutation_p.L42F|DDX47_uc001ray.2_Missense_Mutation_p.L42F|DDX47_uc010shn.1_Missense_Mutation_p.L42F	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	42	Q motif.					nucleolus|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding				0		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)														---	---	---	---	capture		Missense_Mutation	SNP	12967103	12967103	4536	12	G	T	T	47	47	DDX47	T	2	2
WBP11	51729	broad.mit.edu	37	12	14947471	14947471	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14947471C>A	uc001rci.2	-	7	882	c.721G>T	c.(721-723)GCC>TCC	p.A241S		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	241					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	14947471	14947471	17830	12	C	A	A	21	21	WBP11	A	2	2
PTPRO	5800	broad.mit.edu	37	12	15704492	15704492	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15704492G>A	uc001rcv.1	+	15	2619	c.2445G>A	c.(2443-2445)GAG>GAA	p.E815E	PTPRO_uc001rcw.1_Silent_p.E815E|PTPRO_uc001rcx.1_Silent_p.E4E|PTPRO_uc001rcy.1_Silent_p.E4E|PTPRO_uc001rcz.1_Silent_p.E4E|PTPRO_uc001rda.1_Silent_p.E4E	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	815	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)																---	---	---	---	capture		Silent	SNP	15704492	15704492	13266	12	G	A	A	33	33	PTPRO	A	2	2
STRAP	11171	broad.mit.edu	37	12	16052959	16052959	+	Silent	SNP	G	C	C	rs140559082	byFrequency	TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:16052959G>C	uc001rdc.3	+	8	1251	c.897G>C	c.(895-897)ACG>ACC	p.T299T	STRAP_uc010shw.1_Silent_p.T312T|STRAP_uc001rdd.3_Silent_p.T205T	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated	299	WD 7.				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			skin(1)	1		Hepatocellular(102;0.121)																---	---	---	---	capture		Silent	SNP	16052959	16052959	15846	12	G	C	C	40	40	STRAP	C	3	3
ITPR2	3709	broad.mit.edu	37	12	26572033	26572033	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26572033G>A	uc001rhg.2	-	50	7476	c.7059C>T	c.(7057-7059)GTC>GTT	p.V2353V	ITPR2_uc009zjg.1_Silent_p.V504V	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2353	Helical; (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---	capture		Silent	SNP	26572033	26572033	8225	12	G	A	A	41	41	ITPR2	A	2	2
C12orf71	728858	broad.mit.edu	37	12	27235364	27235364	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27235364T>C	uc001rhq.2	-	1	92	c.53A>G	c.(52-54)AAT>AGT	p.N18S		NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	hypothetical protein LOC728858	18											0																		---	---	---	---	capture		Missense_Mutation	SNP	27235364	27235364	1757	12	T	C	C	52	52	C12orf71	C	4	4
FAR2	55711	broad.mit.edu	37	12	29450129	29450129	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29450129C>A	uc001ris.3	+	4	688	c.541C>A	c.(541-543)CTT>ATT	p.L181I	FAR2_uc001rit.2_Missense_Mutation_p.L181I|FAR2_uc009zjm.2_Missense_Mutation_p.L84I|uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	181					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0																		---	---	---	---	capture		Missense_Mutation	SNP	29450129	29450129	5911	12	C	A	A	24	24	FAR2	A	2	2
LRRK2	120892	broad.mit.edu	37	12	40671774	40671774	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40671774T>C	uc001rmg.3	+	17	2147	c.2026T>C	c.(2026-2028)TTC>CTC	p.F676L	LRRK2_uc001rmh.1_Missense_Mutation_p.F298L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	676					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)																---	---	---	---	capture		Missense_Mutation	SNP	40671774	40671774	9409	12	T	C	C	52	52	LRRK2	C	4	4
TMEM117	84216	broad.mit.edu	37	12	44782354	44782354	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:44782354C>A	uc001rod.2	+	8	1510	c.1444C>A	c.(1444-1446)CAC>AAC	p.H482N	TMEM117_uc001roe.2_Missense_Mutation_p.H378N|TMEM117_uc009zkc.2_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	482						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)														---	---	---	---	capture		Missense_Mutation	SNP	44782354	44782354	16562	12	C	A	A	21	21	TMEM117	A	2	2
SLC38A4	55089	broad.mit.edu	37	12	47163091	47163091	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:47163091T>C	uc001rpi.2	-	15	1819	c.1420A>G	c.(1420-1422)ATA>GTA	p.I474V	SLC38A4_uc001rpj.2_Missense_Mutation_p.I474V	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	474	Helical; (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)																	---	---	---	---	capture		Missense_Mutation	SNP	47163091	47163091	15103	12	T	C	C	49	49	SLC38A4	C	4	4
ACCN2	41	broad.mit.edu	37	12	50472716	50472716	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50472716C>A	uc001rvw.2	+	7	1233	c.1004C>A	c.(1003-1005)CCA>CAA	p.P335Q	ACCN2_uc001rvv.2_Missense_Mutation_p.P335Q|ACCN2_uc009zln.2_Missense_Mutation_p.P126Q|ACCN2_uc009zlo.2_Missense_Mutation_p.P335Q	NM_001095	NP_001086	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	335	Extracellular (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)													---	---	---	---	capture		Missense_Mutation	SNP	50472716	50472716	130	12	C	A	A	21	21	ACCN2	A	2	2
LIMA1	51474	broad.mit.edu	37	12	50571758	50571758	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50571758C>A	uc001rwj.3	-	11	1543	c.1369G>T	c.(1369-1371)GGG>TGG	p.G457W	LIMA1_uc001rwg.3_Missense_Mutation_p.G155W|LIMA1_uc001rwh.3_Missense_Mutation_p.G296W|LIMA1_uc001rwi.3_Missense_Mutation_p.G298W|LIMA1_uc001rwk.3_Missense_Mutation_p.G458W|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	457					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		Missense_Mutation	SNP	50571758	50571758	9122	12	C	A	A	21	21	LIMA1	A	2	2
FIGNL2	401720	broad.mit.edu	37	12	52216039	52216039	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52216039G>A	uc001rzc.2	-	1	170	c.159C>T	c.(157-159)GCC>GCT	p.A53A		NM_001013690	NP_001013712	A6NMB9	FIGL2_HUMAN	fidgetin-like 2	53							ATP binding|nucleoside-triphosphatase activity				0				BRCA - Breast invasive adenocarcinoma(357;0.135)														---	---	---	---	capture		Silent	SNP	52216039	52216039	6131	12	G	A	A	43	43	FIGNL2	A	2	2
SMARCC2	6601	broad.mit.edu	37	12	56575865	56575865	+	Splice_Site	SNP	T	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56575865T>A	uc001skb.2	-	8	739	c.633_splice	c.e8-1	p.S211_splice	SMARCC2_uc001skd.2_Splice_Site_p.S211_splice|SMARCC2_uc001ska.2_Splice_Site_p.S211_splice|SMARCC2_uc001skc.2_Splice_Site_p.S211_splice|SMARCC2_uc010sqf.1_Splice_Site_p.S100_splice	NM_003075	NP_003066			SWI/SNF-related matrix-associated						chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)															---	---	---	---	capture		Splice_Site	SNP	56575865	56575865	15274	12	T	A	A	55	55	SMARCC2	A	5	4
OS9	10956	broad.mit.edu	37	12	58089784	58089784	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58089784A>G	uc001spj.2	+	4	502	c.443A>G	c.(442-444)TAC>TGC	p.Y148C	OS9_uc010srx.1_Intron|OS9_uc001spk.2_Missense_Mutation_p.Y148C|OS9_uc001spl.2_Missense_Mutation_p.Y148C|OS9_uc001spm.2_Missense_Mutation_p.Y148C|OS9_uc001spn.2_Missense_Mutation_p.Y148C|OS9_uc010sry.1_Missense_Mutation_p.Y148C|OS9_uc010srz.1_Missense_Mutation_p.Y89C	NM_006812	NP_006803	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum	148	PRKCSH.				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			ovary(1)	1	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)															---	---	---	---	capture		Missense_Mutation	SNP	58089784	58089784	11683	12	A	G	G	14	14	OS9	G	4	4
FAM119B	25895	broad.mit.edu	37	12	58174329	58174329	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58174329A>T	uc001sqg.2	+	3	706	c.581A>T	c.(580-582)CAC>CTC	p.H194L	FAM119B_uc001sqf.2_3'UTR|FAM119B_uc009zqd.2_RNA|TSFM_uc001sqi.2_5'Flank|TSFM_uc010sse.1_5'Flank|TSFM_uc001sqh.2_5'Flank|TSFM_uc010ssf.1_5'Flank	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	hypothetical protein LOC25895 isoform a	194						integral to membrane|intracellular	methyltransferase activity				0	all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)																	---	---	---	---	capture		Missense_Mutation	SNP	58174329	58174329	5611	12	A	T	T	6	6	FAM119B	T	4	4
AVIL	10677	broad.mit.edu	37	12	58200197	58200197	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58200197G>T	uc001sqj.1	-	13	1646	c.1617C>A	c.(1615-1617)TCC>TCA	p.S539S	AVIL_uc009zqe.1_Silent_p.S532S|AVIL_uc001sqk.1_Silent_p.S117S|AVIL_uc001sql.3_Silent_p.S516S	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	539	Gelsolin-like 5.|Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)																	---	---	---	---	capture		Silent	SNP	58200197	58200197	1248	12	G	T	T	47	47	AVIL	T	2	2
GRIP1	23426	broad.mit.edu	37	12	66859137	66859137	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:66859137C>A	uc001stk.2	-	8	1031	c.790G>T	c.(790-792)GGG>TGG	p.G264W	GRIP1_uc010sta.1_Missense_Mutation_p.G208W|GRIP1_uc001stj.2_5'UTR|GRIP1_uc001stl.1_Missense_Mutation_p.G208W|GRIP1_uc001stm.2_Missense_Mutation_p.G264W	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	264	PDZ 3.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)														---	---	---	---	capture		Missense_Mutation	SNP	66859137	66859137	7066	12	C	A	A	21	21	GRIP1	A	2	2
NAV3	89795	broad.mit.edu	37	12	78513121	78513121	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78513121G>T	uc001syp.2	+	15	3318	c.3145G>T	c.(3145-3147)GGG>TGG	p.G1049W	NAV3_uc001syo.2_Missense_Mutation_p.G1049W|NAV3_uc010sub.1_Missense_Mutation_p.G549W|NAV3_uc009zsf.2_Missense_Mutation_p.G57W	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1049	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---	capture		Missense_Mutation	SNP	78513121	78513121	10581	12	G	T	T	35	35	NAV3	T	2	2
RASSF9	9182	broad.mit.edu	37	12	86199048	86199048	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:86199048A>G	uc001taf.1	-	2	1079	c.740T>C	c.(739-741)CTA>CCA	p.L247P		NM_005447	NP_005438	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family	247	Potential.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	86199048	86199048	13554	12	A	G	G	15	15	RASSF9	G	4	4
C12orf63	374467	broad.mit.edu	37	12	97073530	97073530	+	Missense_Mutation	SNP	G	T	T	rs138249141		TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:97073530G>T	uc001tet.1	+	7	1069	c.991G>T	c.(991-993)GAT>TAT	p.D331Y		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	331										skin(6)|ovary(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	97073530	97073530	1750	12	G	T	T	35	35	C12orf63	T	2	2
NEDD1	121441	broad.mit.edu	37	12	97311443	97311443	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:97311443G>T	uc001teu.3	+	5	615	c.276G>T	c.(274-276)TTG>TTT	p.L92F	NEDD1_uc001tev.3_Missense_Mutation_p.L92F|NEDD1_uc010svc.1_Missense_Mutation_p.L3F|NEDD1_uc001tew.2_Missense_Mutation_p.L99F|NEDD1_uc001tex.2_Missense_Mutation_p.L3F	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally	92	WD 3.				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol					0																		---	---	---	---	capture		Missense_Mutation	SNP	97311443	97311443	10708	12	G	T	T	47	47	NEDD1	T	2	2
MYBPC1	4604	broad.mit.edu	37	12	102023238	102023238	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102023238G>T	uc001tii.2	+	4	232	c.130G>T	c.(130-132)GGG>TGG	p.G44W	MYBPC1_uc001tif.1_Missense_Mutation_p.G57W|MYBPC1_uc001tig.2_Missense_Mutation_p.G69W|MYBPC1_uc010svq.1_Missense_Mutation_p.G31W|MYBPC1_uc001tih.2_Missense_Mutation_p.G69W|MYBPC1_uc001tij.2_Missense_Mutation_p.G44W|MYBPC1_uc010svr.1_Missense_Mutation_p.G44W|MYBPC1_uc010svs.1_Missense_Mutation_p.G44W|MYBPC1_uc010svt.1_Missense_Mutation_p.G32W|MYBPC1_uc010svu.1_Missense_Mutation_p.G44W|MYBPC1_uc001tik.2_Missense_Mutation_p.G18W	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	44					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	102023238	102023238	10406	12	G	T	T	47	47	MYBPC1	T	2	2
NFYB	4801	broad.mit.edu	37	12	104515090	104515090	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104515090C>A	uc001tkl.1	-	6	640	c.439G>T	c.(439-441)GGA>TGA	p.G147*	NFYB_uc001tkk.1_Nonsense_Mutation_p.G145*	NM_006166	NP_006157	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	147	C domain.					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	104515090	104515090	10790	12	C	A	A	24	24	NFYB	A	5	2
RBM19	9904	broad.mit.edu	37	12	114395692	114395692	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114395692C>A	uc009zwi.2	-	6	879	c.735G>T	c.(733-735)GAG>GAT	p.E245D	RBM19_uc001tvn.3_Missense_Mutation_p.E245D|RBM19_uc001tvm.2_Missense_Mutation_p.E245D	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	245					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)																	---	---	---	---	capture		Missense_Mutation	SNP	114395692	114395692	13582	12	C	A	A	24	24	RBM19	A	2	2
ACADS	35	broad.mit.edu	37	12	121176442	121176442	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121176442G>T	uc001tza.3	+	7	1020	c.902G>T	c.(901-903)GGG>GTG	p.G301V	ACADS_uc010szl.1_Missense_Mutation_p.G297V|ACADS_uc001tzb.3_Intron	NM_000017	NP_000008	P16219	ACADS_HUMAN	short-chain acyl-CoA dehydrogenase precursor	301						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(2)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	121176442	121176442	115	12	G	T	T	43	43	ACADS	T	2	2
KDM2B	84678	broad.mit.edu	37	12	121880003	121880003	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121880003C>G	uc001uat.2	-	19	3345	c.3241G>C	c.(3241-3243)GAC>CAC	p.D1081H	KDM2B_uc001uaq.2_Missense_Mutation_p.D521H|KDM2B_uc010szy.1_Missense_Mutation_p.D521H|KDM2B_uc001uar.2_Missense_Mutation_p.D672H|KDM2B_uc001uas.2_Missense_Mutation_p.D1012H|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.D329H|KDM2B_uc010szx.1_Missense_Mutation_p.D329H|KDM2B_uc001uap.2_RNA	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	1081	F-box.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	121880003	121880003	8431	12	C	G	G	32	32	KDM2B	G	3	3
DNAH10	196385	broad.mit.edu	37	12	124335508	124335508	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124335508G>A	uc001uft.3	+	34	5847	c.5822G>A	c.(5821-5823)CGC>CAC	p.R1941H		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1941	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---	capture		Missense_Mutation	SNP	124335508	124335508	4780	12	G	A	A	38	38	DNAH10	A	1	1
AACS	65985	broad.mit.edu	37	12	125609519	125609519	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125609519G>T	uc001uhc.2	+	12	1464	c.1258G>T	c.(1258-1260)GAG>TAG	p.E420*	AACS_uc001uhd.2_Nonsense_Mutation_p.E420*|AACS_uc009zyh.2_Intron|AACS_uc009zyi.2_Nonsense_Mutation_p.E18*	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	420					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)														---	---	---	---	capture		Nonsense_Mutation	SNP	125609519	125609519	10	12	G	T	T	37	37	AACS	T	5	1
RIMBP2	23504	broad.mit.edu	37	12	130884265	130884265	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130884265G>T	uc001uil.2	-	18	3255	c.3091C>A	c.(3091-3093)CAC>AAC	p.H1031N		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	1031						cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)														---	---	---	---	capture		Missense_Mutation	SNP	130884265	130884265	13838	12	G	T	T	47	47	RIMBP2	T	2	2
GALNT9	50614	broad.mit.edu	37	12	132688051	132688051	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132688051G>A	uc001ukc.3	-	7	1378	c.1262C>T	c.(1261-1263)TCG>TTG	p.S421L	GALNT9_uc009zyr.2_Missense_Mutation_p.S195L|GALNT9_uc001ukb.2_Missense_Mutation_p.S278L|GALNT9_uc001uka.2_Missense_Mutation_p.S55L	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	421	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)														---	---	---	---	capture		Missense_Mutation	SNP	132688051	132688051	6484	12	G	A	A	37	37	GALNT9	A	1	1
FLT1	2321	broad.mit.edu	37	13	28880836	28880836	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28880836G>T	uc001usb.3	-	29	4079	c.3794C>A	c.(3793-3795)CCC>CAC	p.P1265H	FLT1_uc010aap.2_Missense_Mutation_p.P270H|FLT1_uc010aaq.2_Missense_Mutation_p.P390H|FLT1_uc001usa.3_Missense_Mutation_p.P483H	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1265	Cytoplasmic (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)													---	---	---	---	capture		Missense_Mutation	SNP	28880836	28880836	6183	13	G	T	T	43	43	FLT1	T	2	2
MTUS2	23281	broad.mit.edu	37	13	29599505	29599505	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:29599505G>T	uc001usl.3	+	1	758	c.700G>T	c.(700-702)GCT>TCT	p.A234S		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	224						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	29599505	29599505	10359	13	G	T	T	38	38	MTUS2	T	1	1
TDRD3	81550	broad.mit.edu	37	13	61109311	61109311	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:61109311G>T	uc001via.2	+	12	2571	c.1783G>T	c.(1783-1785)GGA>TGA	p.G595*	TDRD3_uc001vhz.3_Nonsense_Mutation_p.G595*|TDRD3_uc010aeg.2_Nonsense_Mutation_p.G688*|TDRD3_uc001vib.3_Nonsense_Mutation_p.G594*	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	595	Tudor.				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)														---	---	---	---	capture		Nonsense_Mutation	SNP	61109311	61109311	16259	13	G	T	T	39	39	TDRD3	T	5	1
DACH1	1602	broad.mit.edu	37	13	72204798	72204798	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:72204798G>A	uc010thn.1	-	4	1439	c.1016C>T	c.(1015-1017)GCT>GTT	p.A339V	DACH1_uc010tho.1_Missense_Mutation_p.A339V|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	339	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)														---	---	---	---	capture		Missense_Mutation	SNP	72204798	72204798	4386	13	G	A	A	34	34	DACH1	A	2	2
OR4M1	441670	broad.mit.edu	37	14	20249223	20249223	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20249223A>T	uc010tku.1	+	1	742	c.742A>T	c.(742-744)ATT>TTT	p.I248F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	248	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---	capture		Missense_Mutation	SNP	20249223	20249223	11485	14	A	T	T	8	8	OR4M1	T	4	4
OR4K5	79317	broad.mit.edu	37	14	20388954	20388954	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20388954G>T	uc010tkw.1	+	1	189	c.189G>T	c.(187-189)TTG>TTT	p.L63F		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---	capture		Missense_Mutation	SNP	20388954	20388954	11483	14	G	T	T	47	47	OR4K5	T	2	2
OR11H6	122748	broad.mit.edu	37	14	20692525	20692525	+	Silent	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20692525C>T	uc010tlc.1	+	1	657	c.657C>T	c.(655-657)ACC>ACT	p.T219T		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H,	219	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)														---	---	---	---	capture		Silent	SNP	20692525	20692525	11335	14	C	T	T	24	24	OR11H6	T	2	2
RBM23	55147	broad.mit.edu	37	14	23378704	23378704	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23378704C>A	uc001whg.2	-	3	366	c.167G>T	c.(166-168)GGG>GTG	p.G56V	RBM23_uc001whh.2_Missense_Mutation_p.G56V|RBM23_uc001whi.2_Missense_Mutation_p.G56V|RBM23_uc010tne.1_Intron|RBM23_uc001whj.2_Intron|RBM23_uc001whk.1_Missense_Mutation_p.G56V	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	RNA binding motif protein 23 isoform 1	56					mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)														---	---	---	---	capture		Missense_Mutation	SNP	23378704	23378704	13585	14	C	A	A	22	22	RBM23	A	2	2
SLC7A8	23428	broad.mit.edu	37	14	23607195	23607195	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23607195G>A	uc001wiz.2	-	7	1677	c.951C>T	c.(949-951)ATC>ATT	p.I317I	SLC7A8_uc001wix.2_Silent_p.I114I|SLC7A8_uc010tnk.1_Silent_p.I93I|SLC7A8_uc010tnl.1_Silent_p.I212I|SLC7A8_uc001wiy.2_Intron|SLC7A8_uc010akj.2_Intron	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (cationic amino acid	317	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			ovary(1)	1	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)													---	---	---	---	capture		Silent	SNP	23607195	23607195	15201	14	G	A	A	45	45	SLC7A8	A	2	2
SSTR1	6751	broad.mit.edu	37	14	38678807	38678807	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:38678807G>T	uc001wul.1	+	3	830	c.213G>T	c.(211-213)GTG>GTT	p.V71V	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	71	Helical; Name=1; (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)													---	---	---	---	capture		Silent	SNP	38678807	38678807	15713	14	G	T	T	47	47	SSTR1	T	2	2
CLEC14A	161198	broad.mit.edu	37	14	38724318	38724318	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:38724318T>C	uc001wum.1	-	1	1257	c.910A>G	c.(910-912)AGG>GGG	p.R304G		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	304	Extracellular (Potential).					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)														---	---	---	---	capture		Missense_Mutation	SNP	38724318	38724318	3636	14	T	C	C	55	55	CLEC14A	C	4	4
PNN	5411	broad.mit.edu	37	14	39650180	39650180	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39650180A>G	uc001wuw.3	+	9	1364	c.1267A>G	c.(1267-1269)AAA>GAA	p.K423E		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	423	Glu-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)														---	---	---	---	capture		Missense_Mutation	SNP	39650180	39650180	12587	14	A	G	G	5	5	PNN	G	4	4
FANCM	57697	broad.mit.edu	37	14	45605601	45605601	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45605601G>T	uc001wwd.3	+	1	466	c.367G>T	c.(367-369)GTG>TTG	p.V123L	FANCM_uc001wwc.2_Missense_Mutation_p.V123L|FANCM_uc010anf.2_Missense_Mutation_p.V123L|FKBP3_uc010tqf.1_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	123	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---	capture		Missense_Mutation	SNP	45605601	45605601	5907	14	G	T	T	40	40	FANCM	T	1	1
PTGDR	5729	broad.mit.edu	37	14	52735209	52735209	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52735209A>G	uc001wzq.2	+	1	779	c.677A>G	c.(676-678)TAT>TGT	p.Y226C		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	226	Cytoplasmic (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	p.Y226H(1)		ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)													---	---	---	---	capture		Missense_Mutation	SNP	52735209	52735209	13195	14	A	G	G	16	16	PTGDR	G	4	4
ARID4A	5926	broad.mit.edu	37	14	58831935	58831935	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:58831935G>T	uc001xdp.2	+	20	3382	c.3128G>T	c.(3127-3129)AGG>ATG	p.R1043M	ARID4A_uc001xdo.2_Missense_Mutation_p.R1043M|ARID4A_uc001xdq.2_Missense_Mutation_p.R1043M|ARID4A_uc010apg.1_Missense_Mutation_p.R721M	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	1043					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	58831935	58831935	934	14	G	T	T	35	35	ARID4A	T	2	2
SYNE2	23224	broad.mit.edu	37	14	64593056	64593056	+	Silent	SNP	A	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64593056A>C	uc001xgm.2	+	72	13796	c.13566A>C	c.(13564-13566)ACA>ACC	p.T4522T	SYNE2_uc001xgl.2_Silent_p.T4522T|SYNE2_uc010apy.2_Silent_p.T907T|SYNE2_uc010apz.1_Silent_p.T414T	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4522	Cytoplasmic (Potential).|Potential.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)														---	---	---	---	capture		Silent	SNP	64593056	64593056	15967	14	A	C	C	7	7	SYNE2	C	4	4
SPTB	6710	broad.mit.edu	37	14	65261206	65261206	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65261206G>T	uc001xht.2	-	12	1828	c.1774C>A	c.(1774-1776)CTG>ATG	p.L592M	SPTB_uc001xhr.2_Missense_Mutation_p.L592M|SPTB_uc001xhs.2_Missense_Mutation_p.L592M|SPTB_uc001xhu.2_Missense_Mutation_p.L592M	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	592	Spectrin 3.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)														---	---	---	---	capture		Missense_Mutation	SNP	65261206	65261206	15632	14	G	T	T	35	35	SPTB	T	2	2
PLEKHH1	57475	broad.mit.edu	37	14	68052752	68052752	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:68052752C>A	uc001xjl.1	+	28	4013	c.3871C>A	c.(3871-3873)CCA>ACA	p.P1291T	PLEKHH1_uc010tsw.1_Missense_Mutation_p.P859T|PLEKHH1_uc001xjn.1_Missense_Mutation_p.P806T|PLEKHH1_uc010tsx.1_Missense_Mutation_p.P156T|PLEKHH1_uc001xjo.1_Missense_Mutation_p.P156T|PLEKHH1_uc001xjp.1_Missense_Mutation_p.P156T	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	1291	FERM.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)														---	---	---	---	capture		Missense_Mutation	SNP	68052752	68052752	12502	14	C	A	A	22	22	PLEKHH1	A	2	2
ZFP36L1	677	broad.mit.edu	37	14	69256312	69256312	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:69256312G>T	uc001xkh.1	-	2	1085	c.955C>A	c.(955-957)CCG>ACG	p.P319T	ZFP36L1_uc001xki.1_Missense_Mutation_p.P319T	NM_004926	NP_004917	Q07352	TISB_HUMAN	butyrate response factor 1	319					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)												OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	69256312	69256312	18234	14	G	T	T	43	43	ZFP36L1	T	2	2
EXD2	55218	broad.mit.edu	37	14	69701606	69701606	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:69701606G>C	uc001xkt.2	+	7	1191	c.532G>C	c.(532-534)GAG>CAG	p.E178Q	EXD2_uc001xku.2_Missense_Mutation_p.E48Q|EXD2_uc001xkv.2_Missense_Mutation_p.E303Q|EXD2_uc001xkw.2_Missense_Mutation_p.E178Q|EXD2_uc010aqt.2_Missense_Mutation_p.E303Q|EXD2_uc010tte.1_Missense_Mutation_p.E303Q|EXD2_uc001xky.2_Missense_Mutation_p.E178Q	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	178					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	69701606	69701606	5491	14	G	C	C	33	33	EXD2	C	3	3
MAP3K9	4293	broad.mit.edu	37	14	71205067	71205067	+	Missense_Mutation	SNP	G	T	T	rs150993424	byFrequency	TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71205067G>T	uc001xmm.2	-	8	1739	c.1739C>A	c.(1738-1740)CCA>CAA	p.P580Q	MAP3K9_uc010ttk.1_Missense_Mutation_p.P317Q|MAP3K9_uc001xmk.2_Missense_Mutation_p.P322Q|MAP3K9_uc001xml.2_Missense_Mutation_p.P580Q	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	580					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)														---	---	---	---	capture		Missense_Mutation	SNP	71205067	71205067	9640	14	G	T	T	47	47	MAP3K9	T	2	2
TMEM90A	646658	broad.mit.edu	37	14	74876045	74876045	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74876045G>T	uc001xpx.2	-	2	651	c.403C>A	c.(403-405)CAG>AAG	p.Q135K		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	transmembrane protein 90A	135					response to biotic stimulus	Golgi apparatus|integral to membrane					0				BRCA - Breast invasive adenocarcinoma(234;0.00159)														---	---	---	---	capture		Missense_Mutation	SNP	74876045	74876045	16758	14	G	T	T	47	47	TMEM90A	T	2	2
DYNC1H1	1778	broad.mit.edu	37	14	102516143	102516143	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102516143G>A	uc001yks.2	+	76	13772	c.13608G>A	c.(13606-13608)CTG>CTA	p.L4536L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	4536					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---	capture		Silent	SNP	102516143	102516143	5027	14	G	A	A	47	47	DYNC1H1	A	2	2
CDC42BPB	9578	broad.mit.edu	37	14	103416215	103416215	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103416215C>A	uc001ymi.1	-	26	3568	c.3336G>T	c.(3334-3336)AAG>AAT	p.K1112N	CDC42BPB_uc001ymj.1_Missense_Mutation_p.K214N	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	1112	PH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)														---	---	---	---	capture		Missense_Mutation	SNP	103416215	103416215	3201	14	C	A	A	24	24	CDC42BPB	A	2	2
AHNAK2	113146	broad.mit.edu	37	14	105408151	105408151	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105408151A>G	uc010axc.1	-	7	13757	c.13637T>C	c.(13636-13638)CTG>CCG	p.L4546P	AHNAK2_uc001ypx.2_Missense_Mutation_p.L4446P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4546						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---	capture		Missense_Mutation	SNP	105408151	105408151	418	14	A	G	G	7	7	AHNAK2	G	4	4
GABRB3	2562	broad.mit.edu	37	15	26812774	26812774	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:26812774C>A	uc001zaz.2	-	7	931	c.789G>T	c.(787-789)GTG>GTT	p.V263V	GABRB3_uc010uae.1_Silent_p.V178V|GABRB3_uc001zba.2_Silent_p.V263V|GABRB3_uc001zbb.2_Silent_p.V319V	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	263	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)													---	---	---	---	capture		Silent	SNP	26812774	26812774	6419	15	C	A	A	17	17	GABRB3	A	2	2
APBA2	321	broad.mit.edu	37	15	29346344	29346344	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:29346344A>G	uc001zck.2	+	3	464	c.257A>G	c.(256-258)TAT>TGT	p.Y86C	APBA2_uc010azj.2_Missense_Mutation_p.Y86C|APBA2_uc010uat.1_Missense_Mutation_p.Y86C|APBA2_uc001zcl.2_Missense_Mutation_p.Y86C|APBA2_uc010uas.1_Missense_Mutation_p.Y86C	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	86					nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)														---	---	---	---	capture		Missense_Mutation	SNP	29346344	29346344	767	15	A	G	G	16	16	APBA2	G	4	4
RYR3	6263	broad.mit.edu	37	15	33928601	33928601	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33928601G>T	uc001zhi.2	+	27	3476	c.3406G>T	c.(3406-3408)GGG>TGG	p.G1136W	RYR3_uc010bar.2_Missense_Mutation_p.G1136W	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1136	B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---	capture		Missense_Mutation	SNP	33928601	33928601	14250	15	G	T	T	47	47	RYR3	T	2	2
C15orf54	400360	broad.mit.edu	37	15	39544601	39544601	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:39544601C>A	uc001zkg.2	+	2	633	c.265C>A	c.(265-267)CTT>ATT	p.L89I		NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	hypothetical protein LOC400360	89											0		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)														---	---	---	---	capture		Missense_Mutation	SNP	39544601	39544601	1852	15	C	A	A	24	24	C15orf54	A	2	2
CAPN3	825	broad.mit.edu	37	15	42702161	42702161	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42702161G>C	uc001zpn.1	+	19	2389	c.2083G>C	c.(2083-2085)GAG>CAG	p.E695Q	CAPN3_uc001zpk.1_Missense_Mutation_p.E462Q|CAPN3_uc001zpl.1_Missense_Mutation_p.E602Q|CAPN3_uc010udf.1_Missense_Mutation_p.E608Q|CAPN3_uc010udg.1_Missense_Mutation_p.E560Q|CAPN3_uc001zpo.1_Missense_Mutation_p.E689Q|CAPN3_uc001zpp.1_Missense_Mutation_p.E603Q|CAPN3_uc001zpq.1_Missense_Mutation_p.E183Q|CAPN3_uc010bcv.1_Missense_Mutation_p.E30Q|CAPN3_uc001zpr.1_Missense_Mutation_p.E30Q|CAPN3_uc001zps.1_Missense_Mutation_p.E30Q|CAPN3_uc001zpt.1_Missense_Mutation_p.E30Q	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	695	EF-hand 2.|Domain IV.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)														---	---	---	---	capture		Missense_Mutation	SNP	42702161	42702161	2746	15	G	C	C	41	41	CAPN3	C	3	3
UBR1	197131	broad.mit.edu	37	15	43367268	43367268	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43367268C>A	uc001zqq.2	-	4	503	c.437G>T	c.(436-438)GGA>GTA	p.G146V	UBR1_uc010udk.1_Missense_Mutation_p.G146V	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	146	UBR-type.				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)														---	---	---	---	capture		Missense_Mutation	SNP	43367268	43367268	17459	15	C	A	A	30	30	UBR1	A	2	2
SLC24A5	283652	broad.mit.edu	37	15	48426537	48426537	+	Silent	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48426537A>G	uc001zwe.2	+	3	457	c.384A>G	c.(382-384)CTA>CTG	p.L128L	SLC24A5_uc010bel.2_Silent_p.L68L	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	solute carrier family 24, member 5 precursor	128	Helical; Name=2; (Potential).				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity				0		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)														---	---	---	---	capture		Silent	SNP	48426537	48426537	14966	15	A	G	G	15	15	SLC24A5	G	4	4
DMXL2	23312	broad.mit.edu	37	15	51791649	51791649	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51791649C>A	uc002abf.2	-	18	3997	c.3772G>T	c.(3772-3774)GGG>TGG	p.G1258W	DMXL2_uc010ufy.1_Missense_Mutation_p.G1258W|DMXL2_uc010bfa.2_Intron	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1258	WD 10.					cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)														---	---	---	---	capture		Missense_Mutation	SNP	51791649	51791649	4777	15	C	A	A	21	21	DMXL2	A	2	2
MAPK6	5597	broad.mit.edu	37	15	52353627	52353627	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52353627C>G	uc002abp.2	+	5	1791	c.997C>G	c.(997-999)CAT>GAT	p.H333D		NM_002748	NP_002739	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	333					cell cycle		ATP binding|MAP kinase activity			lung(3)|ovary(1)	4				all cancers(107;0.0028)														---	---	---	---	capture		Missense_Mutation	SNP	52353627	52353627	9664	15	C	G	G	29	29	MAPK6	G	3	3
RFX7	64864	broad.mit.edu	37	15	56385972	56385972	+	Silent	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56385972G>C	uc010bfn.2	-	9	3954	c.3954C>G	c.(3952-3954)ACC>ACG	p.T1318T	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Silent_p.T1132T	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	1221					regulation of transcription, DNA-dependent	nucleus	DNA binding				0																		---	---	---	---	capture		Silent	SNP	56385972	56385972	13740	15	G	C	C	47	47	RFX7	C	3	3
ADAM10	102	broad.mit.edu	37	15	58971384	58971384	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:58971384C>G	uc002afd.1	-	4	867	c.423G>C	c.(421-423)GAG>GAC	p.E141D	ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron|ADAM10_uc002afg.2_Missense_Mutation_p.E141D	NM_001110	NP_001101	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10 precursor	141	Extracellular (Potential).				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			skin(2)	2				GBM - Glioblastoma multiforme(80;0.202)														---	---	---	---	capture		Missense_Mutation	SNP	58971384	58971384	235	15	C	G	G	32	32	ADAM10	G	3	3
CA12	771	broad.mit.edu	37	15	63634235	63634235	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63634235G>A	uc002amc.2	-	5	647	c.491C>T	c.(490-492)TCA>TTA	p.S164L	CA12_uc002amd.2_Missense_Mutation_p.S164L|CA12_uc002ame.2_Missense_Mutation_p.S104L	NM_001218	NP_001209	O43570	CAH12_HUMAN	carbonic anhydrase XII isoform 1 precursor	164	Extracellular (Potential).				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			ovary(1)	1					Acetazolamide(DB00819)													---	---	---	---	capture		Missense_Mutation	SNP	63634235	63634235	2629	15	G	A	A	45	45	CA12	A	2	2
PIAS1	8554	broad.mit.edu	37	15	68379011	68379011	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68379011C>A	uc002aqz.2	+	2	488	c.392C>A	c.(391-393)CCA>CAA	p.P131Q	PIAS1_uc010ujx.1_Missense_Mutation_p.P131Q	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	131	PINIT.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	68379011	68379011	12299	15	C	A	A	21	21	PIAS1	A	2	2
HEXA	3073	broad.mit.edu	37	15	72639016	72639016	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72639016C>A	uc002aun.3	-	11	1389	c.1182G>T	c.(1180-1182)GAG>GAT	p.E394D	uc002aug.2_RNA|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Missense_Mutation_p.E405D|HEXA_uc002auo.3_Missense_Mutation_p.E257D|HEXA_uc010bix.2_Missense_Mutation_p.E394D|HEXA_uc010biy.2_Missense_Mutation_p.E257D|HEXA_uc010uko.1_Missense_Mutation_p.E220D|HEXA_uc010biz.1_RNA	NM_000520	NP_000511	P06865	HEXA_HUMAN	hexosaminidase A preproprotein	394					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	72639016	72639016	7356	15	C	A	A	24	24	HEXA	A	2	2
NEO1	4756	broad.mit.edu	37	15	73468876	73468876	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73468876C>A	uc002avm.3	+	6	1290	c.1148C>A	c.(1147-1149)CCA>CAA	p.P383Q	NEO1_uc010ukx.1_Missense_Mutation_p.P383Q|NEO1_uc010uky.1_Missense_Mutation_p.P383Q|NEO1_uc010ukz.1_5'UTR|NEO1_uc002avn.3_Missense_Mutation_p.P28Q	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	383	Extracellular (Potential).|Ig-like C2-type 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	73468876	73468876	10735	15	C	A	A	21	21	NEO1	A	2	2
SGK269	79834	broad.mit.edu	37	15	77474158	77474158	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:77474158G>T	uc002bcm.2	-	3	419	c.111C>A	c.(109-111)CCC>CCA	p.P37P	SGK269_uc002bcn.2_Silent_p.P37P	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	37					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)														---	---	---	---	capture		Silent	SNP	77474158	77474158	14702	15	G	T	T	47	47	SGK269	T	2	2
KIAA1199	57214	broad.mit.edu	37	15	81224341	81224341	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81224341C>A	uc002bfw.1	+	21	3014	c.2754C>A	c.(2752-2754)CCC>CCA	p.P918P	KIAA1199_uc010unn.1_Silent_p.P918P	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	918										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	81224341	81224341	8521	15	C	A	A	22	22	KIAA1199	A	2	2
AP3B2	8120	broad.mit.edu	37	15	83332678	83332678	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83332678C>G	uc010uoh.1	-	19	2431	c.2254G>C	c.(2254-2256)GAG>CAG	p.E752Q	AP3B2_uc010uoi.1_Missense_Mutation_p.E771Q|AP3B2_uc010uoj.1_Missense_Mutation_p.E720Q|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.E388Q|AP3B2_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	752	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)															---	---	---	---	capture		Missense_Mutation	SNP	83332678	83332678	755	15	C	G	G	32	32	AP3B2	G	3	3
BNC1	646	broad.mit.edu	37	15	83935710	83935710	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83935710G>A	uc002bjt.1	-	3	401	c.313C>T	c.(313-315)CCC>TCC	p.P105S	BNC1_uc010uos.1_Missense_Mutation_p.P93S	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	105					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	83935710	83935710	1499	15	G	A	A	43	43	BNC1	A	2	2
ADAMTSL3	57188	broad.mit.edu	37	15	84553954	84553954	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:84553954G>T	uc002bjz.3	+	10	1286	c.1062G>T	c.(1060-1062)ACG>ACT	p.T354T	ADAMTSL3_uc010bmt.1_Silent_p.T354T|ADAMTSL3_uc010bmu.1_Silent_p.T354T	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	354						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)															---	---	---	---	capture		Silent	SNP	84553954	84553954	277	15	G	T	T	40	40	ADAMTSL3	T	1	1
NTRK3	4916	broad.mit.edu	37	15	88678483	88678483	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:88678483T>A	uc002bme.1	-	9	1215	c.1053A>T	c.(1051-1053)GAA>GAT	p.E351D	NTRK3_uc002bmh.2_Missense_Mutation_p.E351D|NTRK3_uc002bmf.1_Missense_Mutation_p.E351D|NTRK3_uc010upl.1_Missense_Mutation_p.E253D|NTRK3_uc010bnh.1_Missense_Mutation_p.E351D|NTRK3_uc002bmg.2_Missense_Mutation_p.E351D	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	351	Ig-like C2-type 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)					T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			---	---	---	---	capture		Missense_Mutation	SNP	88678483	88678483	11113	15	T	A	A	52	52	NTRK3	A	4	4
SRRM2	23524	broad.mit.edu	37	16	2811803	2811803	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2811803C>A	uc002crk.2	+	11	1823	c.1274C>A	c.(1273-1275)CCT>CAT	p.P425H	SRRM2_uc002crj.1_Missense_Mutation_p.P329H|SRRM2_uc002crl.1_Missense_Mutation_p.P425H|SRRM2_uc010bsu.1_Missense_Mutation_p.P329H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	425	Pro-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	2811803	2811803	15683	16	C	A	A	24	24	SRRM2	A	2	2
SRRM2	23524	broad.mit.edu	37	16	2814691	2814691	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2814691C>A	uc002crk.2	+	11	4711	c.4162C>A	c.(4162-4164)CCA>ACA	p.P1388T	SRRM2_uc002crj.1_Missense_Mutation_p.P1292T|SRRM2_uc002crl.1_Missense_Mutation_p.P1388T|SRRM2_uc010bsu.1_Missense_Mutation_p.P1292T	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1388	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	2814691	2814691	15683	16	C	A	A	22	22	SRRM2	A	2	2
ZSCAN10	84891	broad.mit.edu	37	16	3142733	3142733	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3142733C>A	uc002ctv.1	-	1	129	c.41G>T	c.(40-42)TGC>TTC	p.C14F	ZSCAN10_uc002cty.1_Intron|ZSCAN10_uc002ctw.1_Silent_p.L21L|ZSCAN10_uc002ctx.1_5'UTR	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	14	SCAN box.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	3142733	3142733	18831	16	C	A	A	25	25	ZSCAN10	A	2	2
MEFV	4210	broad.mit.edu	37	16	3304583	3304583	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3304583C>G	uc002cun.1	-	2	525	c.485G>C	c.(484-486)AGA>ACA	p.R162T		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	162					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)													---	---	---	---	capture		Missense_Mutation	SNP	3304583	3304583	9848	16	C	G	G	32	32	MEFV	G	3	3
CREBBP	1387	broad.mit.edu	37	16	3778059	3778059	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3778059A>C	uc002cvv.2	-	31	7193	c.6989T>G	c.(6988-6990)CTC>CGC	p.L2330R	CREBBP_uc002cvw.2_Missense_Mutation_p.L2292R	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2330					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)				T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	3778059	3778059	4000	16	A	C	C	11	11	CREBBP	C	4	4
NOMO1	23420	broad.mit.edu	37	16	14960470	14960470	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14960470G>T	uc002dcv.2	+	15	1794	c.1728G>T	c.(1726-1728)CTG>CTT	p.L576L		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	576	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	14960470	14960470	10934	16	G	T	T	47	47	NOMO1	T	2	2
NOMO1	23420	broad.mit.edu	37	16	14983069	14983069	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14983069C>A	uc002dcv.2	+	29	3507	c.3441C>A	c.(3439-3441)CCC>CCA	p.P1147P		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	1147	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	14983069	14983069	10934	16	C	A	A	21	21	NOMO1	A	2	2
ACSM1	116285	broad.mit.edu	37	16	20638586	20638586	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20638586C>A	uc002dhm.1	-	10	1420	c.1352G>T	c.(1351-1353)GGG>GTG	p.G451V	ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.G451V	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	451					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	20638586	20638586	183	16	C	A	A	22	22	ACSM1	A	2	2
PLK1	5347	broad.mit.edu	37	16	23690581	23690581	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23690581C>A	uc002dlz.1	+	1	381	c.328C>A	c.(328-330)CAC>AAC	p.H110N		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	110	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)														---	---	---	---	capture		Missense_Mutation	SNP	23690581	23690581	12520	16	C	A	A	21	21	PLK1	A	2	2
GTF3C1	2975	broad.mit.edu	37	16	27497327	27497327	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27497327G>T	uc002dov.1	-	24	3889	c.3849C>A	c.(3847-3849)CTC>CTA	p.L1283L	GTF3C1_uc002dou.2_Silent_p.L1283L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1283						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5																		---	---	---	---	capture		Silent	SNP	27497327	27497327	7152	16	G	T	T	45	45	GTF3C1	T	2	2
MAZ	4150	broad.mit.edu	37	16	29819136	29819136	+	Nonsense_Mutation	SNP	A	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29819136A>T	uc002dty.2	+	2	1198	c.1030A>T	c.(1030-1032)AAG>TAG	p.K344*	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Nonsense_Mutation_p.K321*|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Nonsense_Mutation_p.K344*|MAZ_uc010bzg.2_Intron|MAZ_uc002dtz.1_Nonsense_Mutation_p.K62*|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	NM_002383	NP_002374	P56270	MAZ_HUMAN	MYC-associated zinc finger protein isoform 1	344	C2H2-type 4.				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	29819136	29819136	9724	16	A	T	T	5	5	MAZ	T	5	4
ZNF267	10308	broad.mit.edu	37	16	31926601	31926601	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31926601C>A	uc002ecs.3	+	4	1240	c.1031C>A	c.(1030-1032)CCT>CAT	p.P344H		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	344					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	31926601	31926601	18398	16	C	A	A	24	24	ZNF267	A	2	2
ZNF267	10308	broad.mit.edu	37	16	31927618	31927618	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31927618C>G	uc002ecs.3	+	4	2257	c.2048C>G	c.(2047-2049)ACT>AGT	p.T683S		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	683					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	31927618	31927618	18398	16	C	G	G	20	20	ZNF267	G	3	3
CHD9	80205	broad.mit.edu	37	16	53279391	53279391	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:53279391G>T	uc002ehb.2	+	13	3362	c.3198G>T	c.(3196-3198)CAG>CAT	p.Q1066H	CHD9_uc002egy.2_Missense_Mutation_p.Q1066H|CHD9_uc002eha.1_Missense_Mutation_p.Q1066H|CHD9_uc002ehc.2_Missense_Mutation_p.Q1066H|CHD9_uc002ehf.2_Missense_Mutation_p.Q180H|CHD9_uc002ehd.2_Missense_Mutation_p.Q592H|CHD9_uc002ehe.1_Missense_Mutation_p.Q180H	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1066					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)																---	---	---	---	capture		Missense_Mutation	SNP	53279391	53279391	3466	16	G	T	T	35	35	CHD9	T	2	2
NLRC5	84166	broad.mit.edu	37	16	57059801	57059801	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57059801A>G	uc002ekk.1	+	6	1171	c.946A>G	c.(946-948)ATG>GTG	p.M316V	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.M121V|NLRC5_uc002ekl.2_Missense_Mutation_p.M121V|NLRC5_uc002ekm.2_Missense_Mutation_p.M121V|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	316	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)																---	---	---	---	capture		Missense_Mutation	SNP	57059801	57059801	10873	16	A	G	G	16	16	NLRC5	G	4	4
PDPR	55066	broad.mit.edu	37	16	70190383	70190383	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70190383G>T	uc002eyf.1	+	19	3198	c.2241G>T	c.(2239-2241)ATG>ATT	p.M747I	CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.M647I|PDPR_uc002eyg.1_Missense_Mutation_p.M414I|PDPR_uc002eyh.2_Missense_Mutation_p.M92I|PDPR_uc010vls.1_Missense_Mutation_p.M92I	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory	747					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.124)														---	---	---	---	capture		Missense_Mutation	SNP	70190383	70190383	12110	16	G	T	T	47	47	PDPR	T	2	2
COG4	25839	broad.mit.edu	37	16	70543256	70543256	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70543256C>A	uc002ezc.2	-	7	891	c.880G>T	c.(880-882)GTG>TTG	p.V294L	COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.V294L|COG4_uc002eze.2_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	290					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)																---	---	---	---	capture		Missense_Mutation	SNP	70543256	70543256	3798	16	C	A	A	20	20	COG4	A	2	2
PMFBP1	83449	broad.mit.edu	37	16	72170400	72170400	+	Missense_Mutation	SNP	C	G	G	rs149950926	byFrequency;by1000genomes	TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72170400C>G	uc002fcc.3	-	9	1322	c.1150G>C	c.(1150-1152)GAG>CAG	p.E384Q	PMFBP1_uc002fcd.2_Missense_Mutation_p.E384Q|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.E239Q	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	384	Potential.									ovary(2)	2		Ovarian(137;0.179)																---	---	---	---	capture		Missense_Mutation	SNP	72170400	72170400	12560	16	C	G	G	30	30	PMFBP1	G	3	3
BCMO1	53630	broad.mit.edu	37	16	81298358	81298358	+	Missense_Mutation	SNP	G	T	T	rs145899743		TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81298358G>T	uc002fgn.1	+	5	803	c.585G>T	c.(583-585)AAG>AAT	p.K195N	BCMO1_uc010vnp.1_Missense_Mutation_p.K126N	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	195					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	81298358	81298358	1405	16	G	T	T	36	36	BCMO1	T	2	2
PLCG2	5336	broad.mit.edu	37	16	81819732	81819732	+	Silent	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81819732C>T	uc002fgt.2	+	2	290	c.138C>T	c.(136-138)ATC>ATT	p.I46I	PLCG2_uc010chg.1_Silent_p.I46I	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	46	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8																		---	---	---	---	capture		Silent	SNP	81819732	81819732	12462	16	C	T	T	29	29	PLCG2	T	2	2
SMYD4	114826	broad.mit.edu	37	17	1687711	1687711	+	Silent	SNP	G	A	A	rs144396164		TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1687711G>A	uc002ftm.3	-	8	2097	c.1929C>T	c.(1927-1929)TCC>TCT	p.S643S	SMYD4_uc002ftn.1_Silent_p.S498S	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	643							zinc ion binding			skin(3)|kidney(2)	5																OREG0024075	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	1687711	1687711	15324	17	G	A	A	39	39	SMYD4	A	1	1
UBE2G1	7326	broad.mit.edu	37	17	4192629	4192629	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4192629C>A	uc002fxs.2	-	4	680	c.322G>T	c.(322-324)GAG>TAG	p.E108*		NM_003342	NP_003333	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	108					protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	4192629	4192629	17413	17	C	A	A	32	32	UBE2G1	A	5	2
ZNF594	84622	broad.mit.edu	37	17	5086471	5086471	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5086471C>A	uc010cla.1	-	2	1237	c.1081G>T	c.(1081-1083)GAG>TAG	p.E361*		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	361	C2H2-type 9; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	5086471	5086471	18619	17	C	A	A	29	29	ZNF594	A	5	2
TMEM102	284114	broad.mit.edu	37	17	7339322	7339322	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7339322G>T	uc002ggx.1	+	2	405	c.132G>T	c.(130-132)CTG>CTT	p.L44L	FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Silent_p.L44L	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	transmembrane protein 102	44	Extracellular (Potential).				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding				0		Prostate(122;0.173)																---	---	---	---	capture		Silent	SNP	7339322	7339322	16547	17	G	T	T	47	47	TMEM102	T	2	2
MYH10	4628	broad.mit.edu	37	17	8417213	8417213	+	Splice_Site	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8417213C>A	uc002gll.2	-	20	2508	c.2412_splice	c.e20-1	p.K804_splice	MYH10_uc002glm.2_Splice_Site_p.K835_splice|MYH10_uc010cnx.2_Splice_Site_p.K813_splice	NM_005964	NP_005955			myosin, heavy polypeptide 10, non-muscle						actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2																		---	---	---	---	capture		Splice_Site	SNP	8417213	8417213	10425	17	C	A	A	24	24	MYH10	A	5	2
TOP3A	7156	broad.mit.edu	37	17	18196077	18196077	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18196077C>T	uc002gsx.1	-	11	1392	c.1163G>A	c.(1162-1164)CGC>CAC	p.R388H	TOP3A_uc010cpz.1_5'Flank|TOP3A_uc010vxr.1_Intron|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Missense_Mutation_p.R286H	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	388					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	18196077	18196077	16909	17	C	T	T	27	27	TOP3A	T	1	1
CDK12	51755	broad.mit.edu	37	17	37627579	37627579	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37627579G>T	uc010cvv.2	+	2	2080	c.1494G>T	c.(1492-1494)CAG>CAT	p.Q498H	CDK12_uc010wef.1_Missense_Mutation_p.Q497H|CDK12_uc002hrw.3_Missense_Mutation_p.Q498H	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	498					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19															TCGA Ovarian(9;0.13)			---	---	---	---	capture		Missense_Mutation	SNP	37627579	37627579	3257	17	G	T	T	35	35	CDK12	T	2	2
PTRF	284119	broad.mit.edu	37	17	40575028	40575028	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40575028G>C	uc002hzo.2	-	1	247	c.88C>G	c.(88-90)CAG>GAG	p.Q30E	PTRF_uc010wgi.1_Missense_Mutation_p.Q30E	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	30					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)														---	---	---	---	capture		Missense_Mutation	SNP	40575028	40575028	13273	17	G	C	C	45	45	PTRF	C	3	3
PTRF	284119	broad.mit.edu	37	17	40575045	40575045	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40575045G>A	uc002hzo.2	-	1	230	c.71C>T	c.(70-72)CCT>CTT	p.P24L	PTRF_uc010wgi.1_Missense_Mutation_p.P24L	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	24					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)														---	---	---	---	capture		Missense_Mutation	SNP	40575045	40575045	13273	17	G	A	A	35	35	PTRF	A	2	2
EZH1	2145	broad.mit.edu	37	17	40871141	40871141	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40871141G>T	uc002iaz.2	-	8	894	c.749C>A	c.(748-750)CCA>CAA	p.P250Q	EZH1_uc002iba.2_Missense_Mutation_p.P241Q|EZH1_uc010wgt.1_Missense_Mutation_p.P180Q|EZH1_uc010wgu.1_Missense_Mutation_p.P256Q|EZH1_uc010wgv.1_Missense_Mutation_p.P210Q|EZH1_uc010wgw.1_Missense_Mutation_p.P111Q|EZH1_uc010cyp.2_Missense_Mutation_p.P151Q|EZH1_uc010cyq.2_Missense_Mutation_p.P167Q|EZH1_uc010cys.2_Missense_Mutation_p.P201Q|EZH1_uc010cyo.1_Intron|EZH1_uc010cyr.1_5'UTR	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	250					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)														---	---	---	---	capture		Missense_Mutation	SNP	40871141	40871141	5527	17	G	T	T	47	47	EZH1	T	2	2
BECN1	8678	broad.mit.edu	37	17	40966595	40966595	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40966595C>G	uc002ibo.3	-	9	1062	c.927G>C	c.(925-927)CAG>CAC	p.Q309H	BECN1_uc010whb.1_Missense_Mutation_p.Q222H|BECN1_uc010whc.1_Missense_Mutation_p.Q233H|BECN1_uc002ibn.2_Missense_Mutation_p.Q309H	NM_003766	NP_003757	Q14457	BECN1_HUMAN	beclin 1	309					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)														---	---	---	---	capture		Missense_Mutation	SNP	40966595	40966595	1419	17	C	G	G	32	32	BECN1	G	3	3
RUNDC1	146923	broad.mit.edu	37	17	41143505	41143505	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41143505G>A	uc002ici.1	+	5	1626	c.1614G>A	c.(1612-1614)TTG>TTA	p.L538L	RUNDC1_uc010whi.1_Silent_p.L308L	NM_173079	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	538	RUN.										0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)														---	---	---	---	capture		Silent	SNP	41143505	41143505	14222	17	G	A	A	45	45	RUNDC1	A	2	2
GPATCH8	23131	broad.mit.edu	37	17	42478693	42478693	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42478693G>T	uc002igw.1	-	8	816	c.752C>A	c.(751-753)TCT>TAT	p.S251Y	GPATCH8_uc002igv.1_Missense_Mutation_p.S173Y|GPATCH8_uc010wiz.1_Missense_Mutation_p.S173Y	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	251						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)														---	---	---	---	capture		Missense_Mutation	SNP	42478693	42478693	6868	17	G	T	T	33	33	GPATCH8	T	2	2
ACBD4	79777	broad.mit.edu	37	17	43214419	43214419	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43214419G>C	uc002iid.2	+	5	672	c.328G>C	c.(328-330)GAG>CAG	p.E110Q	ACBD4_uc010wjj.1_Missense_Mutation_p.E110Q|ACBD4_uc002iie.2_Missense_Mutation_p.E110Q|ACBD4_uc002iif.2_Missense_Mutation_p.E110Q|ACBD4_uc002iic.2_Missense_Mutation_p.E110Q|ACBD4_uc010dae.2_Missense_Mutation_p.E32Q	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	110							fatty-acyl-CoA binding			ovary(1)|kidney(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	43214419	43214419	125	17	G	C	C	33	33	ACBD4	C	3	3
KIAA1267	284058	broad.mit.edu	37	17	44248240	44248240	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44248240C>A	uc002ikb.2	-	1	1355	c.1270G>T	c.(1270-1272)GAG>TAG	p.E424*	KIAA1267_uc002ikc.2_Nonsense_Mutation_p.E424*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.E424*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.E424*	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	424						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)																---	---	---	---	capture		Nonsense_Mutation	SNP	44248240	44248240	8528	17	C	A	A	31	31	KIAA1267	A	5	1
OSBPL7	114881	broad.mit.edu	37	17	45886014	45886014	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45886014C>A	uc002ilx.1	-	22	2513	c.2310G>T	c.(2308-2310)GAG>GAT	p.E770D	OSBPL7_uc002ilw.1_Missense_Mutation_p.E332D	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	770					lipid transport		lipid binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	45886014	45886014	11693	17	C	A	A	24	24	OSBPL7	A	2	2
IGF2BP1	10642	broad.mit.edu	37	17	47115592	47115592	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47115592C>A	uc002iom.2	+	6	798	c.464C>A	c.(463-465)CCC>CAC	p.P155H	IGF2BP1_uc010dbj.2_Intron	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	155	RRM 2.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	47115592	47115592	7874	17	C	A	A	22	22	IGF2BP1	A	2	2
ITGA3	3675	broad.mit.edu	37	17	48148268	48148268	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48148268C>A	uc010dbl.2	+	5	1189	c.725C>A	c.(724-726)CCA>CAA	p.P242Q	ITGA3_uc010dbm.2_Missense_Mutation_p.P242Q	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	242	FG-GAP 4.|Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	48148268	48148268	8181	17	C	A	A	21	21	ITGA3	A	2	2
RSAD1	55316	broad.mit.edu	37	17	48560734	48560734	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48560734G>A	uc002iqw.1	+	6	994	c.938G>A	c.(937-939)GGA>GAA	p.G313E	RSAD1_uc010wmq.1_RNA	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing	313					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)															---	---	---	---	capture		Missense_Mutation	SNP	48560734	48560734	14174	17	G	A	A	41	41	RSAD1	A	2	2
DGKE	8526	broad.mit.edu	37	17	54912380	54912380	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:54912380G>T	uc002iur.2	+	2	404	c.224G>T	c.(223-225)TGC>TTC	p.C75F	DGKE_uc002ius.1_Missense_Mutation_p.C75F|C17orf67_uc002iuq.2_5'Flank	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	75	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(2)	2	Breast(9;3.59e-07)																	---	---	---	---	capture		Missense_Mutation	SNP	54912380	54912380	4647	17	G	T	T	46	46	DGKE	T	2	2
BZRAP1	9256	broad.mit.edu	37	17	56387418	56387418	+	Silent	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56387418C>T	uc002ivx.3	-	21	4672	c.3801G>A	c.(3799-3801)GAG>GAA	p.E1267E	BZRAP1_uc010dcs.2_Silent_p.E1207E|BZRAP1_uc010wnt.1_Silent_p.E1267E	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1267	Poly-Glu.					mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---	capture		Silent	SNP	56387418	56387418	1611	17	C	T	T	24	24	BZRAP1	T	2	2
BCAS3	54828	broad.mit.edu	37	17	59155868	59155868	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59155868G>T	uc002iyv.3	+	22	2459	c.2350G>T	c.(2350-2352)GAT>TAT	p.D784Y	BCAS3_uc002iyu.3_Missense_Mutation_p.D769Y|BCAS3_uc002iyw.3_Missense_Mutation_p.D765Y|BCAS3_uc002iyy.3_Missense_Mutation_p.D540Y|BCAS3_uc002iyz.3_Missense_Mutation_p.D338Y|BCAS3_uc002iza.3_Missense_Mutation_p.D323Y	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	784						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)															---	---	---	---	capture		Missense_Mutation	SNP	59155868	59155868	1373	17	G	T	T	45	45	BCAS3	T	2	2
SCN4A	6329	broad.mit.edu	37	17	62034644	62034644	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62034644G>T	uc002jds.1	-	13	2331	c.2254C>A	c.(2254-2256)CTC>ATC	p.L752I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	752	II.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)													---	---	---	---	capture		Missense_Mutation	SNP	62034644	62034644	14402	17	G	T	T	35	35	SCN4A	T	2	2
DDX5	1655	broad.mit.edu	37	17	62500359	62500359	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62500359A>C	uc002jek.2	-	3	535	c.288T>G	c.(286-288)TTT>TTG	p.F96L	CCDC45_uc002jem.2_5'Flank|CCDC45_uc002jen.2_5'Flank|CCDC45_uc010wqb.1_5'Flank|DDX5_uc010deh.2_Missense_Mutation_p.F96L|DDX5_uc002jej.2_5'UTR|DDX5_uc010wqa.1_Intron|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	96	Q motif.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)					T	ETV4	prostate								---	---	---	---	capture		Missense_Mutation	SNP	62500359	62500359	4538	17	A	C	C	1	1	DDX5	C	4	4
SLC16A5	9121	broad.mit.edu	37	17	73096800	73096800	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73096800C>A	uc002jmr.2	+	5	1414	c.1042C>A	c.(1042-1044)CTC>ATC	p.L348I	SLC16A5_uc002jms.1_Missense_Mutation_p.L348I|SLC16A5_uc002jmt.2_Missense_Mutation_p.L348I|SLC16A5_uc002jmu.2_Missense_Mutation_p.L348I|SLC16A5_uc010wrt.1_Missense_Mutation_p.L388I	NM_004695	NP_004686	O15375	MOT6_HUMAN	solute carrier family 16, member 5	348	Helical; (Potential).				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)													---	---	---	---	capture		Missense_Mutation	SNP	73096800	73096800	14907	17	C	A	A	24	24	SLC16A5	A	2	2
RNF213	57674	broad.mit.edu	37	17	78322000	78322000	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78322000C>T	uc002jyh.1	+	4	4307	c.4084C>T	c.(4084-4086)CAC>TAC	p.H1362Y		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---	capture		Missense_Mutation	SNP	78322000	78322000	13955	17	C	T	T	29	29	RNF213	T	2	2
PYCR1	5831	broad.mit.edu	37	17	79891161	79891161	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79891161C>T	uc002kcr.1	-	7	1167	c.889G>A	c.(889-891)GGG>AGG	p.G297R	PYCR1_uc002kcq.1_3'UTR|PYCR1_uc002kcp.2_Intron|PYCR1_uc002kcs.1_3'UTR|PYCR1_uc010wvd.1_Missense_Mutation_p.G324R|PYCR1_uc002kct.1_Missense_Mutation_p.G297R|PYCR1_uc002kcu.1_Missense_Mutation_p.G266R	NM_006907	NP_008838	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1 isoform 1	297					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	79891161	79891161	13313	17	C	T	T	24	24	PYCR1	T	2	2
FASN	2194	broad.mit.edu	37	17	80053236	80053236	+	Silent	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80053236C>T	uc002kdu.2	-	3	357	c.240G>A	c.(238-240)CGG>CGA	p.R80R		NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	80	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)													---	---	---	---	capture		Silent	SNP	80053236	80053236	5919	17	C	T	T	26	26	FASN	T	2	2
C17orf101	79701	broad.mit.edu	37	17	80369398	80369398	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80369398G>A	uc002keu.1	-	3	414	c.313C>T	c.(313-315)CCC>TCC	p.P105S	C17orf101_uc002ket.1_Missense_Mutation_p.P105S|C17orf101_uc010dip.1_RNA	NM_024648	NP_078924	Q6PK18	CQ101_HUMAN	hypothetical protein LOC79701 isoform 1	105	Lumenal (Potential).					integral to membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	80369398	80369398	1901	17	G	A	A	41	41	C17orf101	A	2	2
L3MBTL4	91133	broad.mit.edu	37	18	5956269	5956269	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5956269G>T	uc002kmz.3	-	20	1982	c.1822C>A	c.(1822-1824)CAG>AAG	p.Q608K	L3MBTL4_uc010dkt.2_Missense_Mutation_p.Q608K|L3MBTL4_uc002kmy.3_Missense_Mutation_p.Q437K	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	608					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)																---	---	---	---	capture		Missense_Mutation	SNP	5956269	5956269	8917	18	G	T	T	47	47	L3MBTL4	T	2	2
LAMA1	284217	broad.mit.edu	37	18	6949175	6949175	+	Silent	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6949175T>C	uc002knm.2	-	59	8575	c.8481A>G	c.(8479-8481)GGA>GGG	p.G2827G	LAMA1_uc002knk.2_Silent_p.G157G|LAMA1_uc002knl.2_Silent_p.G280G|LAMA1_uc010wzj.1_Silent_p.G2303G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2827	Laminin G-like 4.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---	capture		Silent	SNP	6949175	6949175	8928	18	T	C	C	62	62	LAMA1	C	4	4
ROCK1	6093	broad.mit.edu	37	18	18608740	18608740	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:18608740C>T	uc002kte.2	-	10	2149	c.1208G>A	c.(1207-1209)CGT>CAT	p.R403H		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	403	Interaction with FHOD1.|AGC-kinase C-terminal.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)																	---	---	---	---	capture		Missense_Mutation	SNP	18608740	18608740	13996	18	C	T	T	19	19	ROCK1	T	1	1
ZNF521	25925	broad.mit.edu	37	18	22804669	22804669	+	Silent	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:22804669G>C	uc002kvk.2	-	4	3460	c.3213C>G	c.(3211-3213)CTC>CTG	p.L1071L	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.L1071L|ZNF521_uc002kvl.2_Silent_p.L851L	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1071	C2H2-type 25; degenerate.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)							T	PAX5	ALL								---	---	---	---	capture		Silent	SNP	22804669	22804669	18559	18	G	C	C	45	45	ZNF521	C	3	3
SYT4	6860	broad.mit.edu	37	18	40850348	40850348	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:40850348G>A	uc002law.2	-	4	1605	c.1236C>T	c.(1234-1236)CCC>CCT	p.P412P	SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Silent_p.P394P|SYT4_uc010dnh.2_RNA	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	412	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5																		---	---	---	---	capture		Silent	SNP	40850348	40850348	15997	18	G	A	A	47	47	SYT4	A	2	2
ME2	4200	broad.mit.edu	37	18	48434457	48434457	+	Nonsense_Mutation	SNP	C	T	T	rs138563580		TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:48434457C>T	uc002ley.2	+	3	389	c.133C>T	c.(133-135)CGA>TGA	p.R45*	ME2_uc010dpd.2_Nonsense_Mutation_p.R45*	NM_002396	NP_002387	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	45					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding				0		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)													---	---	---	---	capture		Nonsense_Mutation	SNP	48434457	48434457	9807	18	C	T	T	19	19	ME2	T	5	1
CTDP1	9150	broad.mit.edu	37	18	77475153	77475153	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77475153G>T	uc002lnh.1	+	8	1840	c.1693G>T	c.(1693-1695)GGG>TGG	p.G565W	CTDP1_uc002lni.1_Missense_Mutation_p.G565W|CTDP1_uc010drd.1_Missense_Mutation_p.G565W	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	565					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)														---	---	---	---	capture		Missense_Mutation	SNP	77475153	77475153	4161	18	G	T	T	43	43	CTDP1	T	2	2
STXBP2	6813	broad.mit.edu	37	19	7712063	7712063	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7712063C>T	uc002mha.3	+	17	1513	c.1468C>T	c.(1468-1470)CGG>TGG	p.R490W	STXBP2_uc002mhb.3_Missense_Mutation_p.R487W|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.R501W|STXBP2_uc010dvk.2_Missense_Mutation_p.R458W|STXBP2_uc002mhc.3_Missense_Mutation_p.R226W|STXBP2_uc002mhe.1_3'UTR	NM_006949	NP_008880	Q15833	STXB2_HUMAN	syntaxin binding protein 2 isoform a	490					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	7712063	7712063	15873	19	C	T	T	23	23	STXBP2	T	1	1
MUC16	94025	broad.mit.edu	37	19	8993007	8993007	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8993007T>C	uc002mkp.2	-	67	41956	c.41752A>G	c.(41752-41754)ACC>GCC	p.T13918A	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.T735A|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13921	Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---	capture		Missense_Mutation	SNP	8993007	8993007	10367	19	T	C	C	55	55	MUC16	C	4	4
MUC16	94025	broad.mit.edu	37	19	9082912	9082912	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9082912G>T	uc002mkp.2	-	1	9107	c.8903C>A	c.(8902-8904)CCT>CAT	p.P2968H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2969	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		Missense_Mutation	SNP	9082912	9082912	10367	19	G	T	T	35	35	MUC16	T	2	2
ZNF560	147741	broad.mit.edu	37	19	9577339	9577339	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9577339G>C	uc002mlp.1	-	10	2494	c.2284C>G	c.(2284-2286)CAT>GAT	p.H762D	ZNF560_uc010dwr.1_Missense_Mutation_p.H656D	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	762	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	9577339	9577339	18586	19	G	C	C	45	45	ZNF560	C	3	3
COL5A3	50509	broad.mit.edu	37	19	10083669	10083669	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10083669A>G	uc002mmq.1	-	51	3786	c.3700T>C	c.(3700-3702)TCA>CCA	p.S1234P		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1234	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)															---	---	---	---	capture		Missense_Mutation	SNP	10083669	10083669	3836	19	A	G	G	11	11	COL5A3	G	4	4
ANGPTL6	83854	broad.mit.edu	37	19	10204045	10204045	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10204045C>A	uc002mmx.1	-	5	1320	c.1202G>T	c.(1201-1203)AGG>ATG	p.R401M	ANGPTL6_uc002mmy.1_Missense_Mutation_p.R401M	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6 precursor	401	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding				0			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)													OREG0006893	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=FLJ11286|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	---	---	---	---	capture		Missense_Mutation	SNP	10204045	10204045	621	19	C	A	A	24	24	ANGPTL6	A	2	2
DOCK6	57572	broad.mit.edu	37	19	11362852	11362852	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11362852G>A	uc002mqs.3	-	5	491	c.450C>T	c.(448-450)CCC>CCT	p.P150P		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	150					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	11362852	11362852	4875	19	G	A	A	43	43	DOCK6	A	2	2
CCDC151	115948	broad.mit.edu	37	19	11537557	11537557	+	Silent	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11537557C>G	uc002mrs.2	-	5	803	c.660G>C	c.(658-660)GCG>GCC	p.A220A	CCDC151_uc002mrr.2_Silent_p.A155A|CCDC151_uc010dxz.2_Intron	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	220	Potential.									ovary(1)	1																		---	---	---	---	capture		Silent	SNP	11537557	11537557	2906	19	C	G	G	27	27	CCDC151	G	3	3
ELAVL3	1995	broad.mit.edu	37	19	11577040	11577040	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11577040C>T	uc002mry.1	-	3	660	c.280G>A	c.(280-282)GAC>AAC	p.D94N	ELAVL3_uc002mrx.1_Missense_Mutation_p.D94N	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	94	RRM 1.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	11577040	11577040	5242	19	C	T	T	32	32	ELAVL3	T	2	2
ZNF700	90592	broad.mit.edu	37	19	12059659	12059659	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12059659G>T	uc002msu.2	+	4	946	c.820G>T	c.(820-822)GGG>TGG	p.G274W	ZNF700_uc010xme.1_Missense_Mutation_p.G292W|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	12059659	12059659	18699	19	G	T	T	47	47	ZNF700	T	2	2
FARSA	2193	broad.mit.edu	37	19	13041515	13041515	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13041515C>T	uc002mvs.2	-	2	244	c.196G>A	c.(196-198)GAG>AAG	p.E66K	FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.E66K|FARSA_uc010dyy.1_Intron	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	66					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			ovary(1)	1					L-Phenylalanine(DB00120)													---	---	---	---	capture		Missense_Mutation	SNP	13041515	13041515	5915	19	C	T	T	30	30	FARSA	T	2	2
OR7A10	390892	broad.mit.edu	37	19	14951900	14951900	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14951900C>G	uc002mzx.1	-	1	790	c.790G>C	c.(790-792)GCC>CCC	p.A264P		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)																	---	---	---	---	capture		Missense_Mutation	SNP	14951900	14951900	11625	19	C	G	G	25	25	OR7A10	G	3	3
SLC35E1	79939	broad.mit.edu	37	19	16664518	16664518	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16664518G>T	uc010xph.1	-	6	1223	c.1205C>A	c.(1204-1206)TCG>TAG	p.S402*	MED26_uc002nee.2_Intron	NM_024881	NP_079157	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	402					transport	integral to membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	16664518	16664518	15081	19	G	T	T	37	37	SLC35E1	T	5	1
KIAA1683	80726	broad.mit.edu	37	19	18377263	18377263	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18377263G>T	uc002nin.2	-	3	1303	c.1087C>A	c.(1087-1089)CCA>ACA	p.P363T	KIAA1683_uc010ebn.2_Missense_Mutation_p.P363T|KIAA1683_uc010xqe.1_Missense_Mutation_p.P317T	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	363	Thr-rich.					mitochondrion				ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	18377263	18377263	8561	19	G	T	T	43	43	KIAA1683	T	2	2
SFRS14	10147	broad.mit.edu	37	19	19112431	19112431	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19112431G>T	uc002nkx.2	-	8	3128	c.2982C>A	c.(2980-2982)TCC>TCA	p.S994S	SFRS14_uc002nkz.1_Silent_p.S1008S|SFRS14_uc002nla.1_Silent_p.S994S|SFRS14_uc002nlb.2_Silent_p.S994S|SFRS14_uc010xqk.1_Silent_p.S763S	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	994					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)															---	---	---	---	capture		Silent	SNP	19112431	19112431	14660	19	G	T	T	47	47	SFRS14	T	2	2
ZNF99	7652	broad.mit.edu	37	19	22941187	22941187	+	Silent	SNP	A	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22941187A>T	uc010xrh.1	-	5	1251	c.1251T>A	c.(1249-1251)CCT>CCA	p.P417P		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)																---	---	---	---	capture		Silent	SNP	22941187	22941187	18808	19	A	T	T	3	3	ZNF99	T	4	4
CHST8	64377	broad.mit.edu	37	19	34262868	34262868	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34262868C>T	uc002nus.3	+	5	680	c.175C>T	c.(175-177)CCA>TCA	p.P59S	CHST8_uc002nut.3_Missense_Mutation_p.P59S|CHST8_uc002nuu.2_Missense_Mutation_p.P59S	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	59	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)																	---	---	---	---	capture		Missense_Mutation	SNP	34262868	34262868	3544	19	C	T	T	22	22	CHST8	T	2	2
CD22	933	broad.mit.edu	37	19	35823475	35823475	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35823475C>A	uc010edt.2	+	3	137	c.60C>A	c.(58-60)GAC>GAA	p.D20E	CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Missense_Mutation_p.D20E|CD22_uc010edv.2_Missense_Mutation_p.D20E|CD22_uc002nzb.3_Missense_Mutation_p.D20E	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	20	Extracellular (Potential).|Ig-like V-type.				cell adhesion		protein binding|sugar binding			ovary(5)|lung(3)|breast(1)	9	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)													---	---	---	---	capture		Missense_Mutation	SNP	35823475	35823475	3112	19	C	A	A	20	20	CD22	A	2	2
ZNF585B	92285	broad.mit.edu	37	19	37680650	37680650	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37680650G>C	uc002ofq.2	-	4	459	c.205C>G	c.(205-207)CAA>GAA	p.Q69E	ZNF585B_uc002ofr.1_Translation_Start_Site	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	zinc finger protein 585B	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---	capture		Missense_Mutation	SNP	37680650	37680650	18613	19	G	C	C	45	45	ZNF585B	C	3	3
ZNF383	163087	broad.mit.edu	37	19	37734138	37734138	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37734138G>T	uc002oft.1	+	8	1580	c.1000G>T	c.(1000-1002)GGT>TGT	p.G334C	ZNF383_uc002ofs.1_Missense_Mutation_p.G269C|ZNF383_uc002ofu.1_Missense_Mutation_p.G334C	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	zinc finger protein 383	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---	capture		Missense_Mutation	SNP	37734138	37734138	18466	19	G	T	T	47	47	ZNF383	T	2	2
SIPA1L3	23094	broad.mit.edu	37	19	38609997	38609997	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38609997C>A	uc002ohk.2	+	9	2852	c.2343C>A	c.(2341-2343)CCC>CCA	p.P781P		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	781	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)															---	---	---	---	capture		Silent	SNP	38609997	38609997	14826	19	C	A	A	21	21	SIPA1L3	A	2	2
RPS19	6223	broad.mit.edu	37	19	42373788	42373788	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42373788C>T	uc002ort.2	+	5	748	c.376C>T	c.(376-378)CAG>TAG	p.Q126*		NM_001022	NP_001013	P39019	RS19_HUMAN	ribosomal protein S19	126					endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0														Diamond-Blackfan_Anemia				---	---	---	---	capture		Nonsense_Mutation	SNP	42373788	42373788	14109	19	C	T	T	29	29	RPS19	T	5	2
PSG5	5673	broad.mit.edu	37	19	43689235	43689235	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43689235G>T	uc002ovu.2	-	2	260	c.129C>A	c.(127-129)CCC>CCA	p.P43P	PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_5'UTR|PSG5_uc002ovx.2_Silent_p.P43P|PSG5_uc002ovv.2_Silent_p.P43P|PSG5_uc002ovw.2_Silent_p.P43P	NM_002781	NP_002772	Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	43	Ig-like V-type.				female pregnancy	extracellular region				skin(3)	3		Prostate(69;0.00899)																---	---	---	---	capture		Silent	SNP	43689235	43689235	13111	19	G	T	T	47	47	PSG5	T	2	2
CLPTM1	1209	broad.mit.edu	37	19	45493665	45493665	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45493665G>T	uc002pai.2	+	10	1160	c.1145G>T	c.(1144-1146)TGG>TTG	p.W382L	CLPTM1_uc010xxf.1_Missense_Mutation_p.W280L|CLPTM1_uc010xxg.1_Missense_Mutation_p.W368L	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	382	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)														---	---	---	---	capture		Missense_Mutation	SNP	45493665	45493665	3692	19	G	T	T	47	47	CLPTM1	T	2	2
PGLYRP1	8993	broad.mit.edu	37	19	46526200	46526200	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46526200G>T	uc002pdx.1	-	1	124	c.80C>A	c.(79-81)CCG>CAG	p.P27Q		NM_005091	NP_005082	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1 precursor	27					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)	2		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)														---	---	---	---	capture		Missense_Mutation	SNP	46526200	46526200	12216	19	G	T	T	39	39	PGLYRP1	T	1	1
GRWD1	83743	broad.mit.edu	37	19	48949683	48949683	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48949683G>T	uc002pjd.2	+	2	462	c.229G>T	c.(229-231)GGA>TGA	p.G77*		NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	77						nucleolus				ovary(1)	1		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)												OREG0025607	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Nonsense_Mutation	SNP	48949683	48949683	7091	19	G	T	T	43	43	GRWD1	T	5	2
CCDC155	147872	broad.mit.edu	37	19	49916236	49916236	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49916236G>T	uc002pnm.1	+	16	1455	c.1281G>T	c.(1279-1281)CAG>CAT	p.Q427H	CCDC155_uc010emx.1_Missense_Mutation_p.Q398H	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	427						integral to membrane	calcium ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	49916236	49916236	2910	19	G	T	T	35	35	CCDC155	T	2	2
RCN3	57333	broad.mit.edu	37	19	50040310	50040310	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50040310G>C	uc002poj.2	+	4	913	c.466G>C	c.(466-468)GAG>CAG	p.E156Q		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	156						endoplasmic reticulum lumen	calcium ion binding|protein binding			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)														---	---	---	---	capture		Missense_Mutation	SNP	50040310	50040310	13650	19	G	C	C	41	41	RCN3	C	3	3
IL4I1	259307	broad.mit.edu	37	19	50394707	50394707	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50394707C>A	uc002pqt.1	-	6	669	c.591G>T	c.(589-591)CTG>CTT	p.L197L	IL4I1_uc002pqv.1_Silent_p.L206L|IL4I1_uc010eno.1_Silent_p.L205L|IL4I1_uc002pqw.1_Silent_p.L205L|IL4I1_uc002pqu.1_Silent_p.L219L	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	197						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)														---	---	---	---	capture		Silent	SNP	50394707	50394707	7998	19	C	A	A	21	21	IL4I1	A	2	2
SIGLEC11	114132	broad.mit.edu	37	19	50463852	50463852	+	Silent	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50463852C>G	uc010ybh.1	-	2	508	c.417G>C	c.(415-417)GTG>GTC	p.V139V	SIGLEC11_uc010ybi.1_Silent_p.V139V	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11 isoform 1	139	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|central_nervous_system(2)|pancreas(1)	6		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)														---	---	---	---	capture		Silent	SNP	50463852	50463852	14802	19	C	G	G	29	29	SIGLEC11	G	3	3
ZNF611	81856	broad.mit.edu	37	19	53208399	53208399	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53208399G>T	uc002pzz.2	-	7	2226	c.1909C>A	c.(1909-1911)CTT>ATT	p.L637I	ZNF611_uc010eqc.2_Missense_Mutation_p.L567I|ZNF611_uc010ydo.1_Missense_Mutation_p.L567I|ZNF611_uc010ydr.1_Missense_Mutation_p.L568I|ZNF611_uc010ydp.1_Missense_Mutation_p.L637I|ZNF611_uc010ydq.1_Missense_Mutation_p.L637I|ZNF611_uc002qaa.3_Missense_Mutation_p.L567I	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	637	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)														---	---	---	---	capture		Missense_Mutation	SNP	53208399	53208399	18632	19	G	T	T	35	35	ZNF611	T	2	2
ZNF415	55786	broad.mit.edu	37	19	53619569	53619569	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53619569G>T	uc002qax.2	-	4	420	c.71C>A	c.(70-72)CCT>CAT	p.P24H	ZNF415_uc002qat.2_Missense_Mutation_p.P24H|ZNF415_uc002qaw.2_Missense_Mutation_p.L45M|ZNF415_uc010yds.1_Missense_Mutation_p.L45M|ZNF415_uc010ydt.1_Missense_Mutation_p.L45M|ZNF415_uc002qau.2_Translation_Start_Site|ZNF415_uc002qav.2_Missense_Mutation_p.P24H|ZNF415_uc002qba.2_Intron|ZNF415_uc002qay.2_Translation_Start_Site|ZNF415_uc002qaz.2_Missense_Mutation_p.P24H	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)														---	---	---	---	capture		Missense_Mutation	SNP	53619569	53619569	18485	19	G	T	T	35	35	ZNF415	T	2	2
PRKCG	5582	broad.mit.edu	37	19	54401227	54401227	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54401227C>A	uc002qcq.1	+	10	1236	c.954C>A	c.(952-954)GGC>GGA	p.G318G	PRKCG_uc010yef.1_Missense_Mutation_p.A289D|PRKCG_uc010yeg.1_Silent_p.G318G|PRKCG_uc010yeh.1_Silent_p.G205G	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	318					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)														---	---	---	---	capture		Silent	SNP	54401227	54401227	12955	19	C	A	A	26	26	PRKCG	A	2	2
LILRA2	11027	broad.mit.edu	37	19	55086892	55086892	+	Silent	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55086892C>T	uc002qgg.3	+	5	914	c.825C>T	c.(823-825)CTC>CTT	p.L275L	LILRA2_uc010ern.2_Silent_p.L275L|LILRA2_uc002qgf.2_Silent_p.L275L|LILRA2_uc010yfe.1_Silent_p.L275L|LILRA2_uc010yff.1_Silent_p.L263L|LILRA2_uc010ero.2_Silent_p.L263L|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	275	Ig-like C2-type 3.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)														---	---	---	---	capture		Silent	SNP	55086892	55086892	9111	19	C	T	T	32	32	LILRA2	T	2	2
LILRA2	11027	broad.mit.edu	37	19	55098751	55098751	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55098751G>T	uc002qgg.3	+	8	1479	c.1390G>T	c.(1390-1392)GGG>TGG	p.G464W	LILRA2_uc010ern.2_3'UTR|LILRA2_uc002qgf.2_Missense_Mutation_p.G447W|LILRA2_uc010ero.2_Missense_Mutation_p.G435W|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	464	Helical; (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)														---	---	---	---	capture		Missense_Mutation	SNP	55098751	55098751	9111	19	G	T	T	39	39	LILRA2	T	1	1
PPP1R12C	54776	broad.mit.edu	37	19	55605763	55605763	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55605763G>T	uc002qix.2	-	13	1649	c.1633C>A	c.(1633-1635)CAG>AAG	p.Q545K	PPP1R12C_uc010yfs.1_Missense_Mutation_p.Q471K|PPP1R12C_uc002qiy.2_Missense_Mutation_p.Q544K	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	545						cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)														---	---	---	---	capture		Missense_Mutation	SNP	55605763	55605763	12791	19	G	T	T	47	47	PPP1R12C	T	2	2
PPP1R12C	54776	broad.mit.edu	37	19	55607264	55607264	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55607264G>T	uc002qix.2	-	9	1214	c.1198C>A	c.(1198-1200)CCG>ACG	p.P400T	PPP1R12C_uc010yfs.1_Missense_Mutation_p.P326T|PPP1R12C_uc002qiy.2_Missense_Mutation_p.P400T	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	400						cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)														---	---	---	---	capture		Missense_Mutation	SNP	55607264	55607264	12791	19	G	T	T	43	43	PPP1R12C	T	2	2
C19orf51	352909	broad.mit.edu	37	19	55670926	55670926	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55670926C>A	uc002qji.1	-	11	1247	c.1213G>T	c.(1213-1215)GGG>TGG	p.G405W	TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.G220W|C19orf51_uc002qjj.1_Missense_Mutation_p.G452W|C19orf51_uc002qjk.1_Missense_Mutation_p.G351W|C19orf51_uc002qjl.1_Missense_Mutation_p.G472W			Q8N9W5	CS051_HUMAN	RecName: Full=UPF0470 protein C19orf51;	405											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)														---	---	---	---	capture		Missense_Mutation	SNP	55670926	55670926	1997	19	C	A	A	24	24	C19orf51	A	2	2
PTPRH	5794	broad.mit.edu	37	19	55713428	55713428	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55713428G>T	uc002qjq.2	-	6	1222	c.1149C>A	c.(1147-1149)ACC>ACA	p.T383T	PTPRH_uc010esv.2_Silent_p.T205T|PTPRH_uc002qjs.2_Silent_p.T390T	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	383	Extracellular (Potential).|Fibronectin type-III 4.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)														---	---	---	---	capture		Silent	SNP	55713428	55713428	13260	19	G	T	T	47	47	PTPRH	T	2	2
BRSK1	84446	broad.mit.edu	37	19	55813535	55813535	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55813535C>A	uc002qkg.2	+	9	1133	c.856C>A	c.(856-858)CTA>ATA	p.L286I	BRSK1_uc002qkf.2_Missense_Mutation_p.L302I|BRSK1_uc002qkh.2_5'UTR	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	286					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)												OREG0025680	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	55813535	55813535	1554	19	C	A	A	24	24	BRSK1	A	2	2
UBE2S	27338	broad.mit.edu	37	19	55912921	55912921	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55912921G>T	uc002qkx.1	-	4	920	c.552C>A	c.(550-552)GCC>GCA	p.A184A		NM_014501	NP_055316	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	184					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity				0	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)														---	---	---	---	capture		Silent	SNP	55912921	55912921	17430	19	G	T	T	43	43	UBE2S	T	2	2
ZNF524	147807	broad.mit.edu	37	19	56113488	56113488	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56113488C>A	uc002qlk.1	+	2	93	c.10C>A	c.(10-12)CCC>ACC	p.P4T	FIZ1_uc002qli.3_5'Flank|FIZ1_uc002qlj.3_5'Flank	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	zinc finger protein 524	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---	capture		Missense_Mutation	SNP	56113488	56113488	18560	19	C	A	A	22	22	ZNF524	A	2	2
ZNF580	51157	broad.mit.edu	37	19	56153944	56153944	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56153944C>A	uc002qlo.2	+	2	240	c.70C>A	c.(70-72)CCC>ACC	p.P24T	ZNF580_uc002qlm.2_Missense_Mutation_p.P37T|ZNF581_uc002qln.2_Intron|ZNF580_uc002qlp.2_Missense_Mutation_p.P24T|ZNF580_uc010ygd.1_Missense_Mutation_p.P24T|ZNF581_uc002qlq.2_5'Flank	NM_207115	NP_996998	Q9UK33	ZN580_HUMAN	zinc finger protein 580	24	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---	capture		Missense_Mutation	SNP	56153944	56153944	18607	19	C	A	A	22	22	ZNF580	A	2	2
CCDC106	29903	broad.mit.edu	37	19	56160605	56160605	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56160605C>A	uc002qlr.2	+	3	801	c.66C>A	c.(64-66)CCC>CCA	p.P22P	CCDC106_uc002qls.2_Silent_p.P22P	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	22						nucleus					0		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---	capture		Silent	SNP	56160605	56160605	2861	19	C	A	A	24	24	CCDC106	A	2	2
NLRP9	338321	broad.mit.edu	37	19	56228165	56228165	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56228165G>T	uc002qly.2	-	5	2287	c.2259C>A	c.(2257-2259)CCC>CCA	p.P753P		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	753	LRR 1.					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		Silent	SNP	56228165	56228165	10887	19	G	T	T	35	35	NLRP9	T	2	2
NLRP9	338321	broad.mit.edu	37	19	56243885	56243885	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56243885C>A	uc002qly.2	-	2	1340	c.1312G>T	c.(1312-1314)GGG>TGG	p.G438W		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	438	NACHT.					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	56243885	56243885	10887	19	C	A	A	24	24	NLRP9	A	2	2
NLRP9	338321	broad.mit.edu	37	19	56243959	56243959	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56243959C>A	uc002qly.2	-	2	1266	c.1238G>T	c.(1237-1239)GGG>GTG	p.G413V		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	413	NACHT.					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	56243959	56243959	10887	19	C	A	A	22	22	NLRP9	A	2	2
NLRP11	204801	broad.mit.edu	37	19	56303725	56303725	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56303725C>A	uc010ygf.1	-	9	3166	c.2455G>T	c.(2455-2457)GGA>TGA	p.G819*	NLRP11_uc002qlz.2_Nonsense_Mutation_p.G666*|NLRP11_uc002qmb.2_Nonsense_Mutation_p.G720*|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	819	LRR 4.						ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)														---	---	---	---	capture		Nonsense_Mutation	SNP	56303725	56303725	10876	19	C	A	A	23	23	NLRP11	A	5	1
NLRP11	204801	broad.mit.edu	37	19	56329358	56329358	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56329358C>A	uc010ygf.1	-	4	894	c.183G>T	c.(181-183)GAG>GAT	p.E61D	NLRP11_uc002qmb.2_Intron|NLRP11_uc002qmc.2_Intron|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	61	DAPIN.						ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)														---	---	---	---	capture		Missense_Mutation	SNP	56329358	56329358	10876	19	C	A	A	24	24	NLRP11	A	2	2
NLRP4	147945	broad.mit.edu	37	19	56369237	56369237	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56369237G>T	uc002qmd.3	+	3	900	c.478G>T	c.(478-480)GGA>TGA	p.G160*	NLRP4_uc002qmf.2_Nonsense_Mutation_p.G85*|NLRP4_uc010etf.2_5'UTR	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	160	NACHT.|ATP (Potential).						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)														---	---	---	---	capture		Nonsense_Mutation	SNP	56369237	56369237	10882	19	G	T	T	47	47	NLRP4	T	5	2
NLRP4	147945	broad.mit.edu	37	19	56372833	56372833	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56372833G>T	uc002qmd.3	+	4	2360	c.1938G>T	c.(1936-1938)CAG>CAT	p.Q646H	NLRP4_uc002qmf.2_Missense_Mutation_p.Q571H|NLRP4_uc010etf.2_Missense_Mutation_p.Q477H	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	646	LRR 1.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)														---	---	---	---	capture		Missense_Mutation	SNP	56372833	56372833	10882	19	G	T	T	35	35	NLRP4	T	2	2
NLRP4	147945	broad.mit.edu	37	19	56372849	56372849	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56372849G>T	uc002qmd.3	+	4	2376	c.1954G>T	c.(1954-1956)GAG>TAG	p.E652*	NLRP4_uc002qmf.2_Nonsense_Mutation_p.E577*|NLRP4_uc010etf.2_Nonsense_Mutation_p.E483*	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	652	LRR 1.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)														---	---	---	---	capture		Nonsense_Mutation	SNP	56372849	56372849	10882	19	G	T	T	37	37	NLRP4	T	5	1
NLRP4	147945	broad.mit.edu	37	19	56388531	56388531	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56388531G>T	uc002qmd.3	+	8	3117	c.2695G>T	c.(2695-2697)GGG>TGG	p.G899W	NLRP4_uc002qmf.2_Missense_Mutation_p.G824W|NLRP4_uc010etf.2_Missense_Mutation_p.G674W	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	899							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)														---	---	---	---	capture		Missense_Mutation	SNP	56388531	56388531	10882	19	G	T	T	47	47	NLRP4	T	2	2
NLRP13	126204	broad.mit.edu	37	19	56416391	56416391	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56416391C>A	uc010ygg.1	-	8	2560	c.2535G>T	c.(2533-2535)CTG>CTT	p.L845L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	845	LRR 3.						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		Silent	SNP	56416391	56416391	10878	19	C	A	A	21	21	NLRP13	A	2	2
NLRP13	126204	broad.mit.edu	37	19	56419207	56419207	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56419207G>T	uc010ygg.1	-	7	2423	c.2398C>A	c.(2398-2400)CTG>ATG	p.L800M		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	800	LRR 2.						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	56419207	56419207	10878	19	G	T	T	35	35	NLRP13	T	2	2
NLRP13	126204	broad.mit.edu	37	19	56423247	56423247	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56423247G>T	uc010ygg.1	-	5	1961	c.1936C>A	c.(1936-1938)CAG>AAG	p.Q646K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	646							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	56423247	56423247	10878	19	G	T	T	47	47	NLRP13	T	2	2
NLRP13	126204	broad.mit.edu	37	19	56423905	56423905	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56423905C>A	uc010ygg.1	-	5	1303	c.1278G>T	c.(1276-1278)ATG>ATT	p.M426I		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	426	NACHT.						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	56423905	56423905	10878	19	C	A	A	21	21	NLRP13	A	2	2
NLRP13	126204	broad.mit.edu	37	19	56424117	56424117	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56424117G>T	uc010ygg.1	-	5	1091	c.1066C>A	c.(1066-1068)CTG>ATG	p.L356M		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	356	NACHT.						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	56424117	56424117	10878	19	G	T	T	35	35	NLRP13	T	2	2
NLRP8	126205	broad.mit.edu	37	19	56459346	56459346	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56459346C>A	uc002qmh.2	+	1	149	c.78C>A	c.(76-78)CCC>CCA	p.P26P	NLRP8_uc010etg.2_Silent_p.P26P	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	26						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)														---	---	---	---	capture		Silent	SNP	56459346	56459346	10886	19	C	A	A	24	24	NLRP8	A	2	2
NLRP8	126205	broad.mit.edu	37	19	56459374	56459374	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56459374C>A	uc002qmh.2	+	1	177	c.106C>A	c.(106-108)CCA>ACA	p.P36T	NLRP8_uc010etg.2_Missense_Mutation_p.P36T	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	36	DAPIN.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)														---	---	---	---	capture		Missense_Mutation	SNP	56459374	56459374	10886	19	C	A	A	22	22	NLRP8	A	2	2
NLRP8	126205	broad.mit.edu	37	19	56465898	56465898	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56465898G>T	uc002qmh.2	+	3	545	c.474G>T	c.(472-474)ATG>ATT	p.M158I	NLRP8_uc010etg.2_Missense_Mutation_p.M158I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	158						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)														---	---	---	---	capture		Missense_Mutation	SNP	56465898	56465898	10886	19	G	T	T	47	47	NLRP8	T	2	2
NLRP8	126205	broad.mit.edu	37	19	56465912	56465912	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56465912C>A	uc002qmh.2	+	3	559	c.488C>A	c.(487-489)CCC>CAC	p.P163H	NLRP8_uc010etg.2_Missense_Mutation_p.P163H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	163						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)														---	---	---	---	capture		Missense_Mutation	SNP	56465912	56465912	10886	19	C	A	A	22	22	NLRP8	A	2	2
NLRP8	126205	broad.mit.edu	37	19	56466104	56466104	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56466104G>T	uc002qmh.2	+	3	751	c.680G>T	c.(679-681)TGG>TTG	p.W227L	NLRP8_uc010etg.2_Missense_Mutation_p.W227L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	227	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)														---	---	---	---	capture		Missense_Mutation	SNP	56466104	56466104	10886	19	G	T	T	47	47	NLRP8	T	2	2
NLRP8	126205	broad.mit.edu	37	19	56466490	56466490	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56466490G>T	uc002qmh.2	+	3	1137	c.1066G>T	c.(1066-1068)GGG>TGG	p.G356W	NLRP8_uc010etg.2_Missense_Mutation_p.G356W	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	356	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)														---	---	---	---	capture		Missense_Mutation	SNP	56466490	56466490	10886	19	G	T	T	43	43	NLRP8	T	2	2
NLRP5	126206	broad.mit.edu	37	19	56538558	56538558	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56538558C>A	uc002qmj.2	+	7	959	c.959C>A	c.(958-960)CCC>CAC	p.P320H	NLRP5_uc002qmi.2_Missense_Mutation_p.P301H	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	320	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)														---	---	---	---	capture		Missense_Mutation	SNP	56538558	56538558	10883	19	C	A	A	22	22	NLRP5	A	2	2
NLRP5	126206	broad.mit.edu	37	19	56549482	56549482	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56549482G>T	uc002qmj.2	+	10	2707	c.2707G>T	c.(2707-2709)GGA>TGA	p.G903*	NLRP5_uc002qmi.2_Nonsense_Mutation_p.G884*	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	903	LRR 7.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)														---	---	---	---	capture		Nonsense_Mutation	SNP	56549482	56549482	10883	19	G	T	T	35	35	NLRP5	T	5	2
GALP	85569	broad.mit.edu	37	19	56694541	56694541	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56694541G>T	uc002qmo.1	+	5	337	c.255G>T	c.(253-255)AAG>AAT	p.K85N	GALP_uc010eti.2_3'UTR	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	galanin-like peptide isoform 1 precursor	85					neuropeptide signaling pathway	extracellular region	hormone activity				0		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)														---	---	---	---	capture		Missense_Mutation	SNP	56694541	56694541	6490	19	G	T	T	33	33	GALP	T	2	2
ZSCAN5B	342933	broad.mit.edu	37	19	56701730	56701730	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56701730C>A	uc010ygh.1	-	4	954	c.954G>T	c.(952-954)GTG>GTT	p.V318V		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	318					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	56701730	56701730	18843	19	C	A	A	21	21	ZSCAN5B	A	2	2
ZSCAN5B	342933	broad.mit.edu	37	19	56701770	56701770	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56701770G>T	uc010ygh.1	-	4	914	c.914C>A	c.(913-915)TCC>TAC	p.S305Y		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	305					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	56701770	56701770	18843	19	G	T	T	41	41	ZSCAN5B	T	2	2
ZSCAN5B	342933	broad.mit.edu	37	19	56701913	56701913	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56701913G>T	uc010ygh.1	-	4	771	c.771C>A	c.(769-771)CCC>CCA	p.P257P		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	257					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	56701913	56701913	18843	19	G	T	T	43	43	ZSCAN5B	T	2	2
ZSCAN5A	79149	broad.mit.edu	37	19	56733294	56733294	+	Nonsense_Mutation	SNP	C	A	A	rs142761513	byFrequency	TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56733294C>A	uc002qmq.2	-	5	1307	c.1141G>T	c.(1141-1143)GAG>TAG	p.E381*	ZSCAN5A_uc010ygi.1_Nonsense_Mutation_p.E264*|ZSCAN5A_uc002qmr.2_Nonsense_Mutation_p.E381*|ZSCAN5A_uc002qms.1_Nonsense_Mutation_p.E380*	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	381					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	56733294	56733294	18842	19	C	A	A	31	31	ZSCAN5A	A	5	1
ZSCAN5A	79149	broad.mit.edu	37	19	56733660	56733660	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56733660G>T	uc002qmq.2	-	5	941	c.775C>A	c.(775-777)CCA>ACA	p.P259T	ZSCAN5A_uc010ygi.1_Missense_Mutation_p.P142T|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.P259T|ZSCAN5A_uc002qms.1_Missense_Mutation_p.P258T	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	259					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	56733660	56733660	18842	19	G	T	T	43	43	ZSCAN5A	T	2	2
GREB1	9687	broad.mit.edu	37	2	11752682	11752682	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11752682T>G	uc002rbk.1	+	19	3368	c.3068T>G	c.(3067-3069)CTG>CGG	p.L1023R	GREB1_uc002rbp.1_Missense_Mutation_p.L21R	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1023						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)														---	---	---	---	capture		Missense_Mutation	SNP	11752682	11752682	7037	2	T	G	G	55	55	GREB1	G	4	4
GEN1	348654	broad.mit.edu	37	2	17953948	17953948	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17953948G>A	uc002rct.2	+	8	923	c.850G>A	c.(850-852)GAT>AAT	p.D284N	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.D284N|GEN1_uc002rcu.2_Missense_Mutation_p.D284N	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	284					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)												Homologous_recombination					---	---	---	---	capture		Missense_Mutation	SNP	17953948	17953948	6603	2	G	A	A	45	45	GEN1	A	2	2
C2orf44	80304	broad.mit.edu	37	2	24261180	24261180	+	Silent	SNP	T	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24261180T>G	uc002rep.2	-	2	1316	c.1185A>C	c.(1183-1185)ACA>ACC	p.T395T	C2orf44_uc010eya.2_Silent_p.T395T	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	395							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---	capture		Silent	SNP	24261180	24261180	2256	2	T	G	G	55	55	C2orf44	G	4	4
EIF2B4	8890	broad.mit.edu	37	2	27591276	27591276	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27591276G>A	uc002rkb.2	-	6	696	c.553C>T	c.(553-555)CAG>TAG	p.Q185*	EIF2B4_uc002rjz.2_Nonsense_Mutation_p.Q205*|EIF2B4_uc002rka.2_Nonsense_Mutation_p.Q170*|EIF2B4_uc002rkc.2_Nonsense_Mutation_p.Q184*|EIF2B4_uc002rkd.2_5'UTR|EIF2B4_uc002rke.2_Nonsense_Mutation_p.Q154*|EIF2B4_uc002rkf.1_3'UTR|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc010ylq.1_5'Flank	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	185					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---	capture		Nonsense_Mutation	SNP	27591276	27591276	5192	2	G	A	A	47	47	EIF2B4	A	5	2
RBKS	64080	broad.mit.edu	37	2	28050574	28050574	+	Nonsense_Mutation	SNP	C	A	A	rs141229815		TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:28050574C>A	uc002rlo.1	-	7	666	c.655G>T	c.(655-657)GAG>TAG	p.E219*	RBKS_uc010ezi.1_Nonsense_Mutation_p.E152*|RBKS_uc010ymg.1_Nonsense_Mutation_p.E219*	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	ribokinase	219					D-ribose metabolic process		ATP binding|ribokinase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Nonsense_Mutation	SNP	28050574	28050574	13569	2	C	A	A	30	30	RBKS	A	5	2
PLB1	151056	broad.mit.edu	37	2	28815573	28815573	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:28815573G>T	uc002rmb.1	+	32	2234	c.2234G>T	c.(2233-2235)GGG>GTG	p.G745V	PLB1_uc010ezj.1_Missense_Mutation_p.G734V|PLB1_uc002rmc.2_Missense_Mutation_p.G433V|PLB1_uc002rmd.1_Missense_Mutation_p.G255V	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	745	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	28815573	28815573	12450	2	G	T	T	43	43	PLB1	T	2	2
WDR43	23160	broad.mit.edu	37	2	29165192	29165192	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29165192G>T	uc002rmo.2	+	16	1781	c.1749G>T	c.(1747-1749)GAG>GAT	p.E583D		NM_015131	NP_055946	Q15061	WDR43_HUMAN	WD repeat domain 43	583						nucleolus				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	29165192	29165192	17868	2	G	T	T	33	33	WDR43	T	2	2
ALK	238	broad.mit.edu	37	2	29449925	29449925	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29449925C>A	uc002rmy.2	-	18	3837	c.2930G>T	c.(2929-2931)GGG>GTG	p.G977V		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	977	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				---	---	---	---	capture		Missense_Mutation	SNP	29449925	29449925	528	2	C	A	A	22	22	ALK	A	2	2
BIRC6	57448	broad.mit.edu	37	2	32740388	32740388	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32740388C>G	uc010ezu.2	+	55	11034	c.10900C>G	c.(10900-10902)CTT>GTT	p.L3634V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3634					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	32740388	32740388	1463	2	C	G	G	32	32	BIRC6	G	3	3
FAM98A	25940	broad.mit.edu	37	2	33809864	33809864	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33809864C>A	uc002rpa.1	-	8	1610	c.1536G>T	c.(1534-1536)CAG>CAT	p.Q512H	FAM98A_uc010yne.1_Missense_Mutation_p.Q317H|FAM98A_uc010ynd.1_Missense_Mutation_p.Q343H|FAM98A_uc002roz.1_Missense_Mutation_p.Q350H	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	513	Gly-rich.									ovary(1)	1	all_hematologic(175;0.115)																	---	---	---	---	capture		Missense_Mutation	SNP	33809864	33809864	5892	2	C	A	A	24	24	FAM98A	A	2	2
STRN	6801	broad.mit.edu	37	2	37126694	37126694	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37126694C>G	uc002rpn.2	-	6	776	c.767G>C	c.(766-768)AGA>ACA	p.R256T	STRN_uc010ezx.2_Missense_Mutation_p.R256T	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	256					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)																---	---	---	---	capture		Missense_Mutation	SNP	37126694	37126694	15849	2	C	G	G	32	32	STRN	G	3	3
EPAS1	2034	broad.mit.edu	37	2	46603782	46603782	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:46603782G>T	uc002ruv.2	+	9	1627	c.1139G>T	c.(1138-1140)GGG>GTG	p.G380V		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	380					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	46603782	46603782	5343	2	G	T	T	43	43	EPAS1	T	2	2
PEX13	5194	broad.mit.edu	37	2	61258923	61258923	+	Silent	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61258923C>G	uc002sau.3	+	2	545	c.462C>G	c.(460-462)GTC>GTG	p.V154V		NM_002618	NP_002609	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	154	Targeting to peroxisomes.|Lumenal (Potential).				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)															---	---	---	---	capture		Silent	SNP	61258923	61258923	12163	2	C	G	G	32	32	PEX13	G	3	3
ZNF638	27332	broad.mit.edu	37	2	71577240	71577240	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71577240G>T	uc002shx.2	+	2	1475	c.1156G>T	c.(1156-1158)GGT>TGT	p.G386C	ZNF638_uc010fec.2_Missense_Mutation_p.G492C|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.G386C|ZNF638_uc002shy.2_Missense_Mutation_p.G386C|ZNF638_uc002shz.2_Missense_Mutation_p.G386C|ZNF638_uc002sia.2_Missense_Mutation_p.G386C|ZNF638_uc002sib.1_Missense_Mutation_p.G386C	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	386					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	71577240	71577240	18650	2	G	T	T	47	47	ZNF638	T	2	2
SLC4A5	57835	broad.mit.edu	37	2	74481805	74481805	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74481805C>A	uc002sko.1	-	9	1056	c.1054G>T	c.(1054-1056)GGG>TGG	p.G352W	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.G352W|SLC4A5_uc010ffc.1_Missense_Mutation_p.G352W|SLC4A5_uc002skp.1_Missense_Mutation_p.G288W|SLC4A5_uc002sks.1_Missense_Mutation_p.G352W	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	352	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	74481805	74481805	15154	2	C	A	A	21	21	SLC4A5	A	2	2
C2orf3	6936	broad.mit.edu	37	2	75916191	75916191	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:75916191G>T	uc002sno.2	-	10	1630	c.1500C>A	c.(1498-1500)CCC>CCA	p.P500P	C2orf3_uc010ffs.2_Silent_p.P62P|C2orf3_uc002snn.2_Silent_p.P331P|C2orf3_uc010fft.2_Silent_p.P175P	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	500					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Silent	SNP	75916191	75916191	2250	2	G	T	T	43	43	C2orf3	T	2	2
IMMT	10989	broad.mit.edu	37	2	86371396	86371396	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86371396C>G	uc002sqz.3	-	15	2660	c.2272G>C	c.(2272-2274)GAG>CAG	p.E758Q	IMMT_uc002sqy.3_Missense_Mutation_p.E499Q|IMMT_uc002srb.3_Missense_Mutation_p.E747Q|IMMT_uc002sra.3_Missense_Mutation_p.E757Q|IMMT_uc010ytd.1_Missense_Mutation_p.E746Q|IMMT_uc010yte.1_Missense_Mutation_p.E711Q	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	758	Mitochondrial intermembrane (Potential).			E -> D (in Ref. 3; CAG33074).		integral to mitochondrial inner membrane	protein binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	86371396	86371396	8019	2	C	G	G	32	32	IMMT	G	3	3
ITPRIPL1	150771	broad.mit.edu	37	2	96993213	96993213	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96993213G>A	uc002svx.2	+	3	1179	c.844G>A	c.(844-846)GTG>ATG	p.V282M	ITPRIPL1_uc010yuk.1_Missense_Mutation_p.V274M|ITPRIPL1_uc002svy.2_Missense_Mutation_p.V290M|ITPRIPL1_uc010yul.1_Missense_Mutation_p.V274M	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-triphosphate receptor interacting	282	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(2)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	96993213	96993213	8228	2	G	A	A	40	40	ITPRIPL1	A	1	1
CKAP2L	150468	broad.mit.edu	37	2	113509924	113509924	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113509924C>A	uc002tie.2	-	5	1601	c.1522G>T	c.(1522-1524)GAG>TAG	p.E508*	CKAP2L_uc002tif.2_Nonsense_Mutation_p.E97*|CKAP2L_uc010yxp.1_Nonsense_Mutation_p.E343*|CKAP2L_uc010yxq.1_Nonsense_Mutation_p.E343*	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	508						centrosome					0																		---	---	---	---	capture		Nonsense_Mutation	SNP	113509924	113509924	3579	2	C	A	A	32	32	CKAP2L	A	5	2
PCDP1	200373	broad.mit.edu	37	2	120388460	120388460	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120388460G>A	uc002tmb.2	+	20	2191	c.1099G>A	c.(1099-1101)GAT>AAT	p.D367N	PCDP1_uc010yyq.1_Missense_Mutation_p.D497N	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	653						cilium	calmodulin binding				0	Colorectal(110;0.196)																	---	---	---	---	capture		Missense_Mutation	SNP	120388460	120388460	11992	2	G	A	A	45	45	PCDP1	A	2	2
SAP130	79595	broad.mit.edu	37	2	128753976	128753976	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128753976C>A	uc002tpp.2	-	11	1513	c.1381G>T	c.(1381-1383)GGA>TGA	p.G461*	SAP130_uc002tpn.2_Nonsense_Mutation_p.G222*|SAP130_uc002tpo.2_Nonsense_Mutation_p.G206*|SAP130_uc010fmd.2_Nonsense_Mutation_p.G461*|SAP130_uc002tpq.1_Nonsense_Mutation_p.G434*	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	461					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)														---	---	---	---	capture		Nonsense_Mutation	SNP	128753976	128753976	14311	2	C	A	A	23	23	SAP130	A	5	1
CFC1B	653275	broad.mit.edu	37	2	131356251	131356251	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131356251C>A	uc002tro.1	-	3	602	c.211G>T	c.(211-213)GAG>TAG	p.E71*		NM_001079530	NP_001072998	P0CG36	CFC1B_HUMAN	cripto, FRL-1, cryptic family 1B	71					gastrulation	extracellular region					0	Colorectal(110;0.1)																	---	---	---	---	capture		Nonsense_Mutation	SNP	131356251	131356251	3413	2	C	A	A	30	30	CFC1B	A	5	2
ZRANB3	84083	broad.mit.edu	37	2	135975078	135975078	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135975078C>T	uc002tum.2	-	17	2569	c.2452G>A	c.(2452-2454)GAA>AAA	p.E818K	ZRANB3_uc002tuk.2_Missense_Mutation_p.E361K|ZRANB3_uc002tul.2_Missense_Mutation_p.E816K	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	818						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	135975078	135975078	18828	2	C	T	T	30	30	ZRANB3	T	2	2
ZRANB3	84083	broad.mit.edu	37	2	136026712	136026712	+	Splice_Site	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136026712C>A	uc002tum.2	-	11	1324	c.1207_splice	c.e11-1	p.G403_splice	ZRANB3_uc002tuk.2_Splice_Site|ZRANB3_uc002tul.2_Splice_Site_p.G403_splice|ZRANB3_uc002tun.1_Intron	NM_032143	NP_115519			zinc finger, RAN-binding domain containing 3							intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)														---	---	---	---	capture		Splice_Site	SNP	136026712	136026712	18828	2	C	A	A	24	24	ZRANB3	A	5	2
CXCR4	7852	broad.mit.edu	37	2	136873010	136873010	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136873010G>T	uc002tuz.2	-	2	583	c.488C>A	c.(487-489)CCT>CAT	p.P163H	CXCR4_uc002tuy.2_Missense_Mutation_p.P167H|CXCR4_uc010fnk.2_Missense_Mutation_p.P148H	NM_003467	NP_003458	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4 isoform b	163	Helical; Name=4.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)													---	---	---	---	capture		Missense_Mutation	SNP	136873010	136873010	4253	2	G	T	T	35	35	CXCR4	T	2	2
LRP1B	53353	broad.mit.edu	37	2	141739765	141739765	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141739765C>A	uc002tvj.1	-	18	3823	c.2851G>T	c.(2851-2853)GAC>TAC	p.D951Y	LRP1B_uc010fnl.1_Missense_Mutation_p.D133Y	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	951	Extracellular (Potential).|LDL-receptor class A 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---	capture		Missense_Mutation	SNP	141739765	141739765	9328	2	C	A	A	31	31	LRP1B	A	1	1
NEB	4703	broad.mit.edu	37	2	152370906	152370906	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152370906C>A	uc010fnx.2	-	131	18141	c.17950G>T	c.(17950-17952)GGG>TGG	p.G5984W	NEB_uc002txr.2_Missense_Mutation_p.G2407W|NEB_uc002txt.3_Missense_Mutation_p.G489W	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5984					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---	capture		Missense_Mutation	SNP	152370906	152370906	10701	2	C	A	A	21	21	NEB	A	2	2
NR4A2	4929	broad.mit.edu	37	2	157182288	157182288	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:157182288C>G	uc002tyz.3	-	8	2187	c.1765G>C	c.(1765-1767)GAC>CAC	p.D589H	NR4A2_uc002tyx.3_Missense_Mutation_p.D526H|NR4A2_uc010zcf.1_Missense_Mutation_p.D589H	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	589					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	157182288	157182288	11038	2	C	G	G	29	29	NR4A2	G	3	3
PRKRA	8575	broad.mit.edu	37	2	179315055	179315055	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179315055G>T	uc002umf.2	-	2	350	c.149C>A	c.(148-150)CCA>CAA	p.P50Q	PRKRA_uc002umd.2_Missense_Mutation_p.P25Q|PRKRA_uc002ume.2_Missense_Mutation_p.P39Q|PRKRA_uc002umg.2_5'UTR|DFNB59_uc002umi.3_5'Flank	NM_003690	NP_003681	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double	50	Sufficient for self-association and interaction with TARBP2.|DRBM 1.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)															---	---	---	---	capture		Missense_Mutation	SNP	179315055	179315055	12967	2	G	T	T	47	47	PRKRA	T	2	2
TTN	7273	broad.mit.edu	37	2	179593231	179593231	+	Silent	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179593231C>T	uc010zfg.1	-	63	15914	c.15690G>A	c.(15688-15690)GTG>GTA	p.V5230V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V1891V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6157							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture		Silent	SNP	179593231	179593231	17290	2	C	T	T	25	25	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179634819	179634819	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179634819T>A	uc010zfg.1	-	36	8833	c.8609A>T	c.(8608-8610)CAA>CTA	p.Q2870L	TTN_uc010zfh.1_Missense_Mutation_p.Q2824L|TTN_uc010zfi.1_Missense_Mutation_p.Q2824L|TTN_uc010zfj.1_Missense_Mutation_p.Q2824L|TTN_uc002unb.2_Missense_Mutation_p.Q2870L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2870							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	179634819	179634819	17290	2	T	A	A	63	63	TTN	A	4	4
TTN	7273	broad.mit.edu	37	2	179647559	179647559	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179647559C>T	uc010zfg.1	-	18	3298	c.3074G>A	c.(3073-3075)AGC>AAC	p.S1025N	TTN_uc010zfh.1_Missense_Mutation_p.S979N|TTN_uc010zfi.1_Missense_Mutation_p.S979N|TTN_uc010zfj.1_Missense_Mutation_p.S979N|TTN_uc002unb.2_Missense_Mutation_p.S1025N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1025							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	179647559	179647559	17290	2	C	T	T	28	28	TTN	T	2	2
MFSD6	54842	broad.mit.edu	37	2	191353382	191353382	+	Splice_Site	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191353382G>T	uc002urz.2	+	5	1955	c.1631_splice	c.e5-1	p.G544_splice	MFSD6_uc010zge.1_Splice_Site_p.G6_splice	NM_017694	NP_060164			major facilitator superfamily domain containing						transmembrane transport	integral to membrane				ovary(2)	2																		---	---	---	---	capture		Splice_Site	SNP	191353382	191353382	9925	2	G	T	T	35	35	MFSD6	T	5	2
MFSD6	54842	broad.mit.edu	37	2	191353495	191353495	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191353495G>T	uc002urz.2	+	5	2067	c.1743G>T	c.(1741-1743)TTG>TTT	p.L581F	MFSD6_uc010zge.1_Missense_Mutation_p.L43F	NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	581	Helical; (Potential).				transmembrane transport	integral to membrane				ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	191353495	191353495	9925	2	G	T	T	47	47	MFSD6	T	2	2
NDUFS1	4719	broad.mit.edu	37	2	207012498	207012498	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207012498C>A	uc002vbe.2	-	6	526	c.399G>T	c.(397-399)CAG>CAT	p.Q133H	NDUFS1_uc010ziq.1_Missense_Mutation_p.Q147H|NDUFS1_uc010zir.1_Missense_Mutation_p.Q97H|NDUFS1_uc010zis.1_Missense_Mutation_p.Q76H|NDUFS1_uc010zit.1_Missense_Mutation_p.Q22H|NDUFS1_uc010ziu.1_Missense_Mutation_p.Q17H	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	133					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	207012498	207012498	10690	2	C	A	A	24	24	NDUFS1	A	2	2
MAP2	4133	broad.mit.edu	37	2	210559200	210559200	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210559200T>C	uc002vde.1	+	7	2554	c.2306T>C	c.(2305-2307)ATA>ACA	p.I769T	MAP2_uc002vdc.1_Missense_Mutation_p.I769T|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.I765T	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	769					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---	capture		Missense_Mutation	SNP	210559200	210559200	9618	2	T	C	C	49	49	MAP2	C	4	4
CXCR2	3579	broad.mit.edu	37	2	218999763	218999763	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218999763G>A	uc002vgz.1	+	4	464	c.239G>A	c.(238-240)CGC>CAC	p.R80H	CXCR2_uc002vha.1_Missense_Mutation_p.R80H|CXCR2_uc002vhb.1_Missense_Mutation_p.R80H	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	80	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	218999763	218999763	4251	2	G	A	A	38	38	CXCR2	A	1	1
TTLL4	9654	broad.mit.edu	37	2	219603028	219603028	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219603028C>A	uc002viy.2	+	3	999	c.629C>A	c.(628-630)TCT>TAT	p.S210Y	TTLL4_uc010zkl.1_Missense_Mutation_p.S45Y|TTLL4_uc010fvx.2_Missense_Mutation_p.S210Y	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	210					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)														---	---	---	---	capture		Missense_Mutation	SNP	219603028	219603028	17284	2	C	A	A	32	32	TTLL4	A	2	2
EPHA4	2043	broad.mit.edu	37	2	222428692	222428692	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:222428692C>A	uc002vmq.2	-	3	624	c.582G>T	c.(580-582)CTG>CTT	p.L194L	EPHA4_uc002vmr.2_Silent_p.L194L|EPHA4_uc010zlm.1_Silent_p.L135L|EPHA4_uc010zln.1_Silent_p.L194L	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	194	Cys-rich.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)														---	---	---	---	capture		Silent	SNP	222428692	222428692	5362	2	C	A	A	21	21	EPHA4	A	2	2
PAX3	5077	broad.mit.edu	37	2	223086078	223086078	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:223086078C>A	uc010fwo.2	-	6	1187	c.821G>T	c.(820-822)TGG>TTG	p.W274L	PAX3_uc002vmt.1_Missense_Mutation_p.W274L|PAX3_uc002vmy.1_Missense_Mutation_p.W273L|PAX3_uc002vmv.1_Missense_Mutation_p.W274L|PAX3_uc002vmw.1_Missense_Mutation_p.W274L|PAX3_uc002vmx.1_Missense_Mutation_p.W274L	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	274	Homeobox.				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)				T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						---	---	---	---	capture		Missense_Mutation	SNP	223086078	223086078	11900	2	C	A	A	21	21	PAX3	A	2	2
COL4A3	1285	broad.mit.edu	37	2	228135633	228135633	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228135633G>T	uc002vom.1	+	25	1885	c.1723G>T	c.(1723-1725)GGA>TGA	p.G575*	COL4A3_uc002von.1_Nonsense_Mutation_p.G575*|COL4A3_uc002voo.1_Nonsense_Mutation_p.G575*|COL4A3_uc002vop.1_Nonsense_Mutation_p.G575*|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	575	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)														---	---	---	---	capture		Nonsense_Mutation	SNP	228135633	228135633	3829	2	G	T	T	43	43	COL4A3	T	5	2
TRIP12	9320	broad.mit.edu	37	2	230638891	230638891	+	Silent	SNP	T	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230638891T>A	uc002vpw.1	-	37	5500	c.5391A>T	c.(5389-5391)CCA>CCT	p.P1797P	TRIP12_uc002vpx.1_Silent_p.P1845P|TRIP12_uc002vpy.1_Silent_p.P1527P	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1797					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)														---	---	---	---	capture		Silent	SNP	230638891	230638891	17106	2	T	A	A	55	55	TRIP12	A	4	4
CHRNG	1146	broad.mit.edu	37	2	233404757	233404757	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233404757C>A	uc002vsx.1	+	2	132	c.111C>A	c.(109-111)TAC>TAA	p.Y37*	CHRNG_uc010fyd.2_Nonsense_Mutation_p.Y37*|CHRNG_uc010fye.1_Nonsense_Mutation_p.Y37*	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	37	Extracellular (Potential).				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)														---	---	---	---	capture		Nonsense_Mutation	SNP	233404757	233404757	3530	2	C	A	A	19	19	CHRNG	A	5	1
ANKRD5	63926	broad.mit.edu	37	20	10030078	10030078	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10030078C>A	uc002wno.2	+	7	1254	c.861C>A	c.(859-861)CCC>CCA	p.P287P	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.P287P|ANKRD5_uc010gbz.2_Silent_p.P98P	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	287							calcium ion binding			ovary(1)|breast(1)	2																		---	---	---	---	capture		Silent	SNP	10030078	10030078	684	20	C	A	A	21	21	ANKRD5	A	2	2
BTBD3	22903	broad.mit.edu	37	20	11899249	11899249	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:11899249G>T	uc002wnz.2	+	1	685	c.326G>T	c.(325-327)AGA>ATA	p.R109I	BTBD3_uc002wny.2_Missense_Mutation_p.R48I|BTBD3_uc002woa.2_Missense_Mutation_p.R48I|BTBD3_uc010zrf.1_5'UTR|BTBD3_uc010zrg.1_5'Flank|BTBD3_uc010zrh.1_5'Flank	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN	BTB/POZ domain containing protein 3 isoform a	109										ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	11899249	11899249	1578	20	G	T	T	35	35	BTBD3	T	2	2
SEL1L2	80343	broad.mit.edu	37	20	13971175	13971175	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13971175C>G	uc010gcf.2	-	1	88	c.6G>C	c.(4-6)AAG>AAC	p.K2N	SEL1L2_uc002woq.3_5'UTR|SEL1L2_uc010zrl.1_Missense_Mutation_p.K2N|SEL1L2_uc002wor.2_Intron	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	2						integral to membrane	binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	13971175	13971175	14497	20	C	G	G	28	28	SEL1L2	G	3	3
KIF16B	55614	broad.mit.edu	37	20	16360239	16360239	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:16360239C>T	uc002wpg.1	-	19	2566	c.2408G>A	c.(2407-2409)CGG>CAG	p.R803Q	KIF16B_uc002wpe.1_Missense_Mutation_p.R185Q|KIF16B_uc002wpf.1_Missense_Mutation_p.R185Q|KIF16B_uc010gch.1_Missense_Mutation_p.R803Q|KIF16B_uc010gci.1_Missense_Mutation_p.R803Q|KIF16B_uc010gcj.1_Missense_Mutation_p.R814Q	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	803	Glu-rich.|Potential.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.R803L(1)		skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	16360239	16360239	8589	20	C	T	T	23	23	KIF16B	T	1	1
BFSP1	631	broad.mit.edu	37	20	17474875	17474875	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17474875G>T	uc002wpo.2	-	8	1881	c.1842C>A	c.(1840-1842)CCC>CCA	p.P614P	BFSP1_uc002wpp.2_Silent_p.P489P|BFSP1_uc010zrn.1_Silent_p.P475P|BFSP1_uc010zro.1_Silent_p.P475P	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin isoform 1	614	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	17474875	17474875	1439	20	G	T	T	47	47	BFSP1	T	2	2
CST7	8530	broad.mit.edu	37	20	24938088	24938088	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:24938088T>C	uc002wtx.1	+	2	512	c.302T>C	c.(301-303)CTA>CCA	p.L101P		NM_003650	NP_003641	O76096	CYTF_HUMAN	cystatin F	79					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	24938088	24938088	4118	20	T	C	C	53	53	CST7	C	4	4
ZNF341	84905	broad.mit.edu	37	20	32332998	32332998	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32332998G>T	uc002wzy.2	+	3	252	c.232G>T	c.(232-234)GGG>TGG	p.G78W	ZNF341_uc002wzx.2_Missense_Mutation_p.G78W|ZNF341_uc010geq.2_Intron|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	32332998	32332998	18449	20	G	T	T	43	43	ZNF341	T	2	2
RBM12	10137	broad.mit.edu	37	20	34240640	34240640	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34240640T>C	uc002xdq.2	-	3	2837	c.2605A>G	c.(2605-2607)ATT>GTT	p.I869V	CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.I869V|RBM12_uc002xds.2_Missense_Mutation_p.I869V	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	869	RRM 3.					nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)															---	---	---	---	capture		Missense_Mutation	SNP	34240640	34240640	13574	20	T	C	C	49	49	RBM12	C	4	4
C20orf117	140710	broad.mit.edu	37	20	35443706	35443706	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35443706G>A	uc002xgd.1	-	5	1752	c.1425C>T	c.(1423-1425)ATC>ATT	p.I475I	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	475											0		Myeloproliferative disorder(115;0.00874)																---	---	---	---	capture		Silent	SNP	35443706	35443706	2159	20	G	A	A	41	41	C20orf117	A	2	2
C20orf117	140710	broad.mit.edu	37	20	35443718	35443718	+	Silent	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35443718G>C	uc002xgd.1	-	5	1740	c.1413C>G	c.(1411-1413)CTC>CTG	p.L471L	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	471											0		Myeloproliferative disorder(115;0.00874)																---	---	---	---	capture		Silent	SNP	35443718	35443718	2159	20	G	C	C	45	45	C20orf117	C	3	3
C20orf117	140710	broad.mit.edu	37	20	35444418	35444418	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35444418G>A	uc002xgd.1	-	5	1040	c.713C>T	c.(712-714)GCT>GTT	p.A238V	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	238											0		Myeloproliferative disorder(115;0.00874)																---	---	---	---	capture		Missense_Mutation	SNP	35444418	35444418	2159	20	G	A	A	34	34	C20orf117	A	2	2
RALGAPB	57148	broad.mit.edu	37	20	37137763	37137763	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37137763G>T	uc002xiw.2	+	6	1041	c.784G>T	c.(784-786)GTT>TTT	p.V262F	RALGAPB_uc010zvz.1_Missense_Mutation_p.V262F|RALGAPB_uc002xix.2_Missense_Mutation_p.V262F|RALGAPB_uc002xiy.1_Missense_Mutation_p.V262F|RALGAPB_uc002xiz.2_Missense_Mutation_p.V40F|RALGAPB_uc002xja.1_5'UTR	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	262					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	37137763	37137763	13475	20	G	T	T	36	36	RALGAPB	T	2	2
DHX35	60625	broad.mit.edu	37	20	37634927	37634927	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37634927C>A	uc002xjh.2	+	12	1161	c.1150C>A	c.(1150-1152)CAG>AAG	p.Q384K	DHX35_uc010zwa.1_Missense_Mutation_p.Q229K|DHX35_uc010zwb.1_Missense_Mutation_p.Q229K|DHX35_uc010zwc.1_Missense_Mutation_p.Q353K	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	384	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)																---	---	---	---	capture		Missense_Mutation	SNP	37634927	37634927	4687	20	C	A	A	21	21	DHX35	A	2	2
KCNS1	3787	broad.mit.edu	37	20	43723776	43723776	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43723776G>T	uc002xnc.2	-	5	1713	c.1316C>A	c.(1315-1317)TCA>TAA	p.S439*	KCNS1_uc002xnd.2_Nonsense_Mutation_p.S439*	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	439	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)																---	---	---	---	capture		Nonsense_Mutation	SNP	43723776	43723776	8393	20	G	T	T	45	45	KCNS1	T	5	2
PIGT	51604	broad.mit.edu	37	20	44050036	44050036	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44050036G>T	uc002xoh.1	+	9	1120	c.1047G>T	c.(1045-1047)GTG>GTT	p.V349V	PIGT_uc010ghd.1_Silent_p.V256V|PIGT_uc010ghc.1_RNA|PIGT_uc010ghe.1_Silent_p.V312V|PIGT_uc010ghf.1_Silent_p.V302V|PIGT_uc002xoj.1_Intron|PIGT_uc002xok.1_Silent_p.V314V|PIGT_uc010zwu.1_Silent_p.V87V|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Silent_p.V87V|PIGT_uc010zww.1_Silent_p.V293V|PIGT_uc010zwx.1_Silent_p.V184V|PIGT_uc010zwy.1_Silent_p.V247V|PIGT_uc010zwz.1_Silent_p.V87V|PIGT_uc010zxa.1_Silent_p.V187V|PIGT_uc002xol.1_Intron|PIGT_uc010zxb.1_Silent_p.V25V|PIGT_uc002xom.1_5'Flank	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	349	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---	capture		Silent	SNP	44050036	44050036	12323	20	G	T	T	46	46	PIGT	T	2	2
PLTP	5360	broad.mit.edu	37	20	44533736	44533736	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44533736C>T	uc002xqn.1	-	9	807	c.727G>A	c.(727-729)GAG>AAG	p.E243K	PLTP_uc002xql.1_Missense_Mutation_p.E155K|PLTP_uc002xqm.1_Missense_Mutation_p.E263K|PLTP_uc002xqo.1_Missense_Mutation_p.E191K|PLTP_uc002xqp.1_Missense_Mutation_p.E243K|PLTP_uc002xqq.1_Missense_Mutation_p.E212K|PLTP_uc010zxj.1_Missense_Mutation_p.E148K|PLTP_uc010ghj.1_Missense_Mutation_p.E243K	NM_006227	NP_006218	P55058	PLTP_HUMAN	phospholipid transfer protein isoform a	243					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---	capture		Missense_Mutation	SNP	44533736	44533736	12540	20	C	T	T	29	29	PLTP	T	2	2
ZNF335	63925	broad.mit.edu	37	20	44581131	44581131	+	Silent	SNP	T	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44581131T>A	uc002xqw.2	-	20	2967	c.2844A>T	c.(2842-2844)CCA>CCT	p.P948P	ZNF335_uc002xqv.2_Silent_p.P60P|ZNF335_uc010zxk.1_Silent_p.P793P	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	948					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)																---	---	---	---	capture		Silent	SNP	44581131	44581131	18444	20	T	A	A	63	63	ZNF335	A	4	4
B4GALT5	9334	broad.mit.edu	37	20	48260104	48260104	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:48260104C>A	uc002xuu.3	-	4	642	c.448G>T	c.(448-450)GGA>TGA	p.G150*		NM_004776	NP_004767	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	150	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)															---	---	---	---	capture		Nonsense_Mutation	SNP	48260104	48260104	1295	20	C	A	A	23	23	B4GALT5	A	5	1
TAF4	6874	broad.mit.edu	37	20	60572686	60572686	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60572686C>G	uc002ybs.2	-	14	3010	c.3010G>C	c.(3010-3012)GCC>CCC	p.A1004P		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	1004					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)															---	---	---	---	capture		Missense_Mutation	SNP	60572686	60572686	16047	20	C	G	G	27	27	TAF4	G	3	3
CLDN17	26285	broad.mit.edu	37	21	31538660	31538660	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31538660C>G	uc011acv.1	-	1	276	c.276G>C	c.(274-276)TTG>TTC	p.L92F		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	92	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	31538660	31538660	3614	21	C	G	G	29	29	CLDN17	G	3	3
C21orf63	59271	broad.mit.edu	37	21	33825772	33825772	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:33825772C>A	uc002ypr.1	+	2	723	c.313C>A	c.(313-315)CAG>AAG	p.Q105K	C21orf63_uc002ypq.1_Missense_Mutation_p.Q105K|C21orf63_uc002yps.1_Intron|C21orf63_uc010glw.1_Missense_Mutation_p.Q105K|C21orf63_uc002ypt.1_Intron|C21orf63_uc002ypu.1_Missense_Mutation_p.Q10K	NM_058187	NP_478067	P58658	CU063_HUMAN	hypothetical protein LOC59271 precursor	105	SUEL-type lectin 1.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(2)|pancreas(1)	3																OREG0003572	type=REGULATORY REGION|Gene=C21orf63|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---	capture		Missense_Mutation	SNP	33825772	33825772	2211	21	C	A	A	21	21	C21orf63	A	2	2
GCFC1	94104	broad.mit.edu	37	21	34117169	34117169	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34117169C>A	uc002yqn.2	-	13	2314	c.2124G>T	c.(2122-2124)GTG>GTT	p.V708V	GCFC1_uc002yql.2_Silent_p.V217V|GCFC1_uc002yqm.2_Silent_p.V202V|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Silent_p.V708V	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	708				Missing (in Ref. 5; AAD34617).		cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2																		---	---	---	---	capture		Silent	SNP	34117169	34117169	6555	21	C	A	A	21	21	GCFC1	A	2	2
SON	6651	broad.mit.edu	37	21	34921900	34921900	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34921900G>T	uc002yse.1	+	3	412	c.363G>T	c.(361-363)AAG>AAT	p.K121N	SON_uc002ysb.1_Missense_Mutation_p.K121N|SON_uc002ysc.2_Missense_Mutation_p.K121N|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	121					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6																OREG0003562	type=REGULATORY REGION|Gene=AK091233|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---	capture		Missense_Mutation	SNP	34921900	34921900	15426	21	G	T	T	33	33	SON	T	2	2
RIPK4	54101	broad.mit.edu	37	21	43161628	43161628	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43161628G>A	uc002yzn.1	-	8	1773	c.1725C>T	c.(1723-1725)CAC>CAT	p.H575H		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	575						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7																		---	---	---	---	capture		Silent	SNP	43161628	43161628	13860	21	G	A	A	36	36	RIPK4	A	2	2
DGCR8	54487	broad.mit.edu	37	22	20094896	20094896	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20094896G>T	uc002zri.2	+	12	2449	c.2099G>T	c.(2098-2100)CGT>CTT	p.R700L	DGCR8_uc010grz.2_Missense_Mutation_p.R667L|DGCR8_uc002zrj.2_Missense_Mutation_p.R343L	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	700	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)																	---	---	---	---	capture		Missense_Mutation	SNP	20094896	20094896	4643	22	G	T	T	40	40	DGCR8	T	1	1
HPS4	89781	broad.mit.edu	37	22	26860753	26860753	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26860753G>A	uc003acl.2	-	11	1502	c.843C>T	c.(841-843)GCC>GCT	p.A281A	HPS4_uc003aci.2_Silent_p.A276A|HPS4_uc003acj.2_Silent_p.A145A|HPS4_uc003ack.2_Silent_p.A72A|HPS4_uc003acn.2_Silent_p.A127A|HPS4_uc010gvd.1_Silent_p.A299A|HPS4_uc003ach.2_Silent_p.A16A	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	281					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0														Hermansky-Pudlak_syndrome				---	---	---	---	capture		Silent	SNP	26860753	26860753	7633	22	G	A	A	43	43	HPS4	A	2	2
RFPL1	5988	broad.mit.edu	37	22	29837739	29837739	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29837739G>T	uc003afn.2	+	2	791	c.582G>T	c.(580-582)CTG>CTT	p.L194L	RFPL1S_uc003afm.1_RNA	NM_021026	NP_066306	O75677	RFPL1_HUMAN	ret finger protein-like 1	194	B30.2/SPRY.						zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	29837739	29837739	13724	22	G	T	T	47	47	RFPL1	T	2	2
C22orf42	150297	broad.mit.edu	37	22	32555004	32555004	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32555004G>T	uc003amd.2	-	1	240	c.199C>A	c.(199-201)CCG>ACG	p.P67T		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	67										ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	32555004	32555004	2231	22	G	T	T	43	43	C22orf42	T	2	2
C22orf28	51493	broad.mit.edu	37	22	32794076	32794076	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32794076C>A	uc003amm.2	-	7	797	c.666G>T	c.(664-666)CTG>CTT	p.L222L	C22orf28_uc011ama.1_RNA	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	hypothetical protein LOC51493	222					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding				0																		---	---	---	---	capture		Silent	SNP	32794076	32794076	2221	22	C	A	A	21	21	C22orf28	A	2	2
EP300	2033	broad.mit.edu	37	22	41565505	41565505	+	Splice_Site	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41565505A>G	uc003azl.3	+	26	4568	c.4173_splice	c.e26-2	p.R1391_splice		NM_001429	NP_001420			E1A binding protein p300						apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64								T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				---	---	---	---	capture		Splice_Site	SNP	41565505	41565505	5341	22	A	G	G	15	15	EP300	G	5	4
PRR5	55615	broad.mit.edu	37	22	45133115	45133115	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45133115G>T	uc003bfb.1	+	8	1427	c.1155G>T	c.(1153-1155)CAG>CAT	p.Q385H	PRR5_uc003bew.1_Missense_Mutation_p.Q376H|PRR5_uc003bex.1_Missense_Mutation_p.Q290H|PRR5_uc010gzt.1_Missense_Mutation_p.Q408H|PRR5_uc010gzu.1_Missense_Mutation_p.Q349H|PRR5_uc003bey.1_Missense_Mutation_p.Q376H|PRR5_uc003bez.1_Missense_Mutation_p.Q290H|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc003bfd.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.Q278H|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.Q284H	NM_181333	NP_851850	P85299	PRR5_HUMAN	proline rich 5 (renal) isoform 1	385					cell cycle					skin(1)	1		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)														---	---	---	---	capture		Missense_Mutation	SNP	45133115	45133115	13049	22	G	T	T	33	33	PRR5	T	2	2
TATDN2	9797	broad.mit.edu	37	3	10311830	10311830	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10311830G>T	uc003bvg.2	+	4	1545	c.964G>T	c.(964-966)GTG>TTG	p.V322L	TATDN2_uc003bvf.2_Missense_Mutation_p.V322L|TATDN2_uc011atr.1_Missense_Mutation_p.V322L|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	NM_014760	NP_055575	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	322						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			pancreas(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	10311830	10311830	16114	3	G	T	T	44	44	TATDN2	T	2	2
SYN2	6854	broad.mit.edu	37	3	12224840	12224840	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12224840G>T	uc003bwm.2	+	15	1501	c.1337G>T	c.(1336-1338)AGC>ATC	p.S446I	SYN2_uc003bwl.1_Missense_Mutation_p.S446I|SYN2_uc003bwn.2_Missense_Mutation_p.S120I	NM_133625	NP_598328	Q92777	SYN2_HUMAN	synapsin II isoform IIa	446					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	12224840	12224840	15962	3	G	T	T	34	34	SYN2	T	2	2
NUP210	23225	broad.mit.edu	37	3	13395089	13395089	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:13395089C>A	uc003bxv.1	-	18	2676	c.2593G>T	c.(2593-2595)GAG>TAG	p.E865*	NUP210_uc003bxw.2_Nonsense_Mutation_p.E41*|NUP210_uc003bxx.2_Nonsense_Mutation_p.E537*	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	865	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)																	---	---	---	---	capture		Nonsense_Mutation	SNP	13395089	13395089	11165	3	C	A	A	30	30	NUP210	A	5	2
MRPS25	64432	broad.mit.edu	37	3	15094002	15094002	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15094002G>T	uc003bzl.2	-	4	583	c.468C>A	c.(466-468)CCC>CCA	p.P156P	MRPS25_uc011avl.1_Missense_Mutation_p.P127Q|MRPS25_uc011avm.1_Intron	NM_022497	NP_071942	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	156					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0																		---	---	---	---	capture		Silent	SNP	15094002	15094002	10229	3	G	T	T	47	47	MRPS25	T	2	2
ITGA9	3680	broad.mit.edu	37	3	37778403	37778403	+	Silent	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37778403C>T	uc003chd.2	+	20	2216	c.2163C>T	c.(2161-2163)TTC>TTT	p.F721F		NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	721	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)														---	---	---	---	capture		Silent	SNP	37778403	37778403	8187	3	C	T	T	29	29	ITGA9	T	2	2
XYLB	9942	broad.mit.edu	37	3	38420752	38420752	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38420752G>T	uc003cic.2	+	15	1319	c.1210G>T	c.(1210-1212)GGG>TGG	p.G404W	XYLB_uc011ayp.1_Missense_Mutation_p.G267W|XYLB_uc003cid.1_Missense_Mutation_p.G326W	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	404					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)														---	---	---	---	capture		Missense_Mutation	SNP	38420752	38420752	18045	3	G	T	T	47	47	XYLB	T	2	2
ZNF197	10168	broad.mit.edu	37	3	44670938	44670938	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44670938A>T	uc003cnm.2	+	2	498	c.292A>T	c.(292-294)ATT>TTT	p.I98F	ZNF197_uc003cnn.2_Missense_Mutation_p.I98F|ZNF197_uc003cno.2_RNA|ZNF197_uc003cnp.2_Missense_Mutation_p.I98F	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	98	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)														---	---	---	---	capture		Missense_Mutation	SNP	44670938	44670938	18350	3	A	T	T	12	12	ZNF197	T	4	4
CCR9	10803	broad.mit.edu	37	3	45942943	45942943	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:45942943G>T	uc003coz.1	+	3	820	c.663G>T	c.(661-663)CTG>CTT	p.L221L	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.1_Silent_p.L209L|CCR9_uc003cpa.1_Silent_p.L209L	NM_031200	NP_112477	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9 isoform A	221	Helical; Name=5; (Potential).				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				ovary(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)														---	---	---	---	capture		Silent	SNP	45942943	45942943	3075	3	G	T	T	47	47	CCR9	T	2	2
SETD2	29072	broad.mit.edu	37	3	47103752	47103752	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47103752G>T	uc003cqs.2	-	14	6247	c.6194C>A	c.(6193-6195)CCA>CAA	p.P2065Q	SETD2_uc003cqv.2_Missense_Mutation_p.P2132Q|SETD2_uc003cqt.1_RNA	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2065					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)				N|F|S|Mis		clear cell renal carcinoma								---	---	---	---	capture		Missense_Mutation	SNP	47103752	47103752	14620	3	G	T	T	47	47	SETD2	T	2	2
PTPN23	25930	broad.mit.edu	37	3	47452148	47452148	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47452148C>T	uc003crf.1	+	20	2956	c.2860C>T	c.(2860-2862)CAG>TAG	p.Q954*	PTPN23_uc011baw.1_Nonsense_Mutation_p.Q919*|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Nonsense_Mutation_p.Q824*	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	954	6 X 2 AA approximate tandem repeats of P- Q.|1.|Pro-rich.|His.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---	capture		Nonsense_Mutation	SNP	47452148	47452148	13245	3	C	T	T	21	21	PTPN23	T	5	2
ARIH2	10425	broad.mit.edu	37	3	49006060	49006060	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49006060G>T	uc003cvb.2	+	7	944	c.632G>T	c.(631-633)AGG>ATG	p.R211M	ARIH2_uc003cvc.2_Missense_Mutation_p.R211M|ARIH2_uc003cvf.2_Missense_Mutation_p.R129M|ARIH2_uc010hkl.2_Missense_Mutation_p.R211M	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	211	IBR-type.				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)														---	---	---	---	capture		Missense_Mutation	SNP	49006060	49006060	939	3	G	T	T	35	35	ARIH2	T	2	2
MST1R	4486	broad.mit.edu	37	3	49935084	49935084	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49935084C>G	uc003cxy.3	-	6	2179	c.1915G>C	c.(1915-1917)GAG>CAG	p.E639Q	MST1R_uc011bdd.1_Missense_Mutation_p.E639Q|MST1R_uc011bdc.1_5'Flank	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	639	IPT/TIG 1.|Extracellular (Potential).				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)														---	---	---	---	capture		Missense_Mutation	SNP	49935084	49935084	10284	3	C	G	G	29	29	MST1R	G	3	3
PBRM1	55193	broad.mit.edu	37	3	52623100	52623100	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52623100C>A	uc003des.2	-	18	2963	c.2951G>T	c.(2950-2952)TGG>TTG	p.W984L	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.W984L|PBRM1_uc003der.2_Missense_Mutation_p.W952L|PBRM1_uc003det.2_Missense_Mutation_p.W999L|PBRM1_uc003deu.2_Missense_Mutation_p.W999L|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.W984L|PBRM1_uc010hmk.1_Missense_Mutation_p.W984L|PBRM1_uc003dey.2_Missense_Mutation_p.W984L|PBRM1_uc003dez.1_Missense_Mutation_p.W983L|PBRM1_uc003dfb.1_Missense_Mutation_p.W896L|PBRM1_uc003dfa.1_Missense_Mutation_p.W330L	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	984	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)				Mis|N|F|S|D|O		clear cell renal carcinoma|breast								---	---	---	---	capture		Missense_Mutation	SNP	52623100	52623100	11911	3	C	A	A	21	21	PBRM1	A	2	2
SFMBT1	51460	broad.mit.edu	37	3	52966255	52966255	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52966255C>A	uc003dgf.2	-	7	1092	c.523G>T	c.(523-525)GAC>TAC	p.D175Y	SFMBT1_uc010hmr.2_Missense_Mutation_p.D122Y|SFMBT1_uc003dgg.2_Missense_Mutation_p.D175Y|SFMBT1_uc003dgh.2_Missense_Mutation_p.D175Y	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	175	MBT 2.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)														---	---	---	---	capture		Missense_Mutation	SNP	52966255	52966255	14646	3	C	A	A	30	30	SFMBT1	A	2	2
FLNB	2317	broad.mit.edu	37	3	58062793	58062793	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58062793G>T	uc003djj.2	+	2	478	c.313G>T	c.(313-315)GGG>TGG	p.G105W	FLNB_uc010hne.2_Missense_Mutation_p.G105W|FLNB_uc003djk.2_Missense_Mutation_p.G105W|FLNB_uc010hnf.2_Missense_Mutation_p.G105W|FLNB_uc003djl.2_5'Flank|FLNB_uc003djm.2_5'Flank	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	105	Actin-binding.|CH 1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)														---	---	---	---	capture		Missense_Mutation	SNP	58062793	58062793	6176	3	G	T	T	47	47	FLNB	T	2	2
PTPRG	5793	broad.mit.edu	37	3	62216897	62216897	+	Splice_Site	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:62216897A>G	uc003dlb.2	+	14	3008	c.2289_splice	c.e14-2	p.R763_splice	PTPRG_uc003dlc.2_Intron|PTPRG_uc011bfi.1_Intron	NM_002841	NP_002832			protein tyrosine phosphatase, receptor type, G						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)														---	---	---	---	capture		Splice_Site	SNP	62216897	62216897	13259	3	A	G	G	15	15	PTPRG	G	5	4
PRICKLE2	166336	broad.mit.edu	37	3	64085478	64085478	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64085478G>T	uc003dmf.2	-	8	2370	c.1784C>A	c.(1783-1785)TCG>TAG	p.S595*		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	595						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)														---	---	---	---	capture		Nonsense_Mutation	SNP	64085478	64085478	12930	3	G	T	T	37	37	PRICKLE2	T	5	1
LRIG1	26018	broad.mit.edu	37	3	66430866	66430866	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:66430866C>T	uc003dmx.2	-	19	3117	c.3103G>A	c.(3103-3105)GAG>AAG	p.E1035K	SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Missense_Mutation_p.E655K|LRIG1_uc003dmw.2_Missense_Mutation_p.E701K|LRIG1_uc010hnz.2_Missense_Mutation_p.E751K|LRIG1_uc010hoa.2_Missense_Mutation_p.E1012K	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	1035	Cytoplasmic (Potential).					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)														---	---	---	---	capture		Missense_Mutation	SNP	66430866	66430866	9317	3	C	T	T	32	32	LRIG1	T	2	2
FOXP1	27086	broad.mit.edu	37	3	71015079	71015079	+	Silent	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:71015079C>T	uc003dol.2	-	16	2174	c.1851G>A	c.(1849-1851)GAG>GAA	p.E617E	FOXP1_uc003dom.2_Silent_p.E541E|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.E616E|FOXP1_uc003dop.2_Silent_p.E617E|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Silent_p.E517E|FOXP1_uc003doj.2_Silent_p.E517E|FOXP1_uc003dok.2_Silent_p.E430E	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	617					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)				T	PAX5	ALL								---	---	---	---	capture		Silent	SNP	71015079	71015079	6272	3	C	T	T	32	32	FOXP1	T	2	2
EPHA6	285220	broad.mit.edu	37	3	96706629	96706629	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:96706629C>A	uc010how.1	+	3	949	c.906C>A	c.(904-906)CCC>CCA	p.P302P	EPHA6_uc003drp.1_Silent_p.P302P	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	207	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16																		---	---	---	---	capture		Silent	SNP	96706629	96706629	5364	3	C	A	A	24	24	EPHA6	A	2	2
ARL6	84100	broad.mit.edu	37	3	97506911	97506911	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97506911G>T	uc003drv.2	+	7	740	c.427G>T	c.(427-429)GTG>TTG	p.V143L	ARL6_uc003drw.2_RNA|ARL6_uc003dru.2_Missense_Mutation_p.V143L|ARL6_uc010hoy.2_Missense_Mutation_p.V143L	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	143					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding				0		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)										Bardet-Biedl_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	97506911	97506911	959	3	G	T	T	36	36	ARL6	T	2	2
CRYBG3	131544	broad.mit.edu	37	3	97660093	97660093	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97660093C>A	uc003drx.2	+	17	2827	c.2763C>A	c.(2761-2763)CCC>CCA	p.P921P	CRYBG3_uc010hoz.1_RNA	NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0																		---	---	---	---	capture		Silent	SNP	97660093	97660093	4052	3	C	A	A	24	24	CRYBG3	A	2	2
MINA	84864	broad.mit.edu	37	3	97669727	97669727	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97669727C>A	uc003drz.1	-	6	1297	c.791G>T	c.(790-792)TGG>TTG	p.W264L	MINA_uc003dry.1_5'Flank|MINA_uc003dsa.1_Missense_Mutation_p.W264L|MINA_uc003dsb.1_Missense_Mutation_p.W264L|MINA_uc003dsc.1_Missense_Mutation_p.W264L|MINA_uc010hpa.1_RNA	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	264	JmjC.				ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	97669727	97669727	9976	3	C	A	A	21	21	MINA	A	2	2
OR5H15	403274	broad.mit.edu	37	3	97887902	97887902	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97887902A>T	uc011bgu.1	+	1	359	c.359A>T	c.(358-360)TAT>TTT	p.Y120F		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	120	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	97887902	97887902	11571	3	A	T	T	16	16	OR5H15	T	4	4
LNP1	348801	broad.mit.edu	37	3	100170718	100170718	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100170718C>A	uc003dtx.3	+	3	1592	c.312C>A	c.(310-312)TCC>TCA	p.S104S	LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	104											0																		---	---	---	---	capture		Silent	SNP	100170718	100170718	9192	3	C	A	A	22	22	LNP1	A	2	2
DPPA4	55211	broad.mit.edu	37	3	109047782	109047782	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:109047782G>T	uc003dxq.3	-	6	888	c.833C>A	c.(832-834)CCC>CAC	p.P278H	DPPA4_uc011bho.1_Silent_p.T179T	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	278						nucleus	protein binding			upper_aerodigestive_tract(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	109047782	109047782	4920	3	G	T	T	43	43	DPPA4	T	2	2
WDR52	55779	broad.mit.edu	37	3	113122773	113122773	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113122773G>A	uc003eae.1	-	9	1142	c.1096C>T	c.(1096-1098)CAC>TAC	p.H366Y		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	366	WD 4.									central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	113122773	113122773	17877	3	G	A	A	45	45	WDR52	A	2	2
C3orf30	152405	broad.mit.edu	37	3	118870112	118870112	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:118870112C>A	uc003ecb.1	+	3	1624	c.1584C>A	c.(1582-1584)CCC>CCA	p.P528P	C3orf30_uc011biw.1_Silent_p.P527P	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	528										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)														---	---	---	---	capture		Silent	SNP	118870112	118870112	2313	3	C	A	A	22	22	C3orf30	A	2	2
ARHGAP31	57514	broad.mit.edu	37	3	119134028	119134028	+	Silent	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119134028C>T	uc003ecj.3	+	12	3784	c.3252C>T	c.(3250-3252)CAC>CAT	p.H1084H		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	1084					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2																		---	---	---	---	capture		Silent	SNP	119134028	119134028	892	3	C	T	T	18	18	ARHGAP31	T	2	2
POLQ	10721	broad.mit.edu	37	3	121238841	121238841	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121238841C>A	uc003eee.3	-	9	1474	c.1345G>T	c.(1345-1347)GGG>TGG	p.G449W		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	449	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)									DNA_polymerases_(catalytic_subunits)					---	---	---	---	capture		Missense_Mutation	SNP	121238841	121238841	12636	3	C	A	A	21	21	POLQ	A	2	2
KALRN	8997	broad.mit.edu	37	3	124397067	124397067	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124397067G>T	uc003ehg.2	+	50	7351	c.7224G>T	c.(7222-7224)ATG>ATT	p.M2408I	KALRN_uc003ehk.2_Missense_Mutation_p.M711I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2407					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	124397067	124397067	8279	3	G	T	T	45	45	KALRN	T	2	2
CCDC37	348807	broad.mit.edu	37	3	126132997	126132997	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126132997A>G	uc003eiu.1	+	4	299	c.200A>G	c.(199-201)GAT>GGT	p.D67G	CCDC37_uc010hsg.1_Missense_Mutation_p.D67G	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	67										ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.166)														---	---	---	---	capture		Missense_Mutation	SNP	126132997	126132997	2931	3	A	G	G	12	12	CCDC37	G	4	4
RAB43	339122	broad.mit.edu	37	3	128852967	128852967	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128852967C>T	uc003elo.1	-	9	824	c.613G>A	c.(613-615)GAG>AAG	p.E205K	ISY1_uc010hsz.1_Intron|ISY1_uc003elp.1_Missense_Mutation_p.E205K|ISY1_uc010hta.1_Missense_Mutation_p.E227K	NM_020701	NP_065752	Q86YS6	RAB43_HUMAN	ISY1 splicing factor homolog	Error:Variant_position_missing_in_Q86YS6_after_alignment					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			lung(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	128852967	128852967	13404	3	C	T	T	30	30	RAB43	T	2	2
MED12L	116931	broad.mit.edu	37	3	150876568	150876568	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150876568G>T	uc003eyp.2	+	6	857	c.819G>T	c.(817-819)TTG>TTT	p.L273F	MED12L_uc011bnz.1_Missense_Mutation_p.L273F|MED12L_uc003eym.1_Missense_Mutation_p.L273F|MED12L_uc003eyn.2_Missense_Mutation_p.L273F|MED12L_uc003eyo.2_Missense_Mutation_p.L273F	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	273					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---	capture		Missense_Mutation	SNP	150876568	150876568	9818	3	G	T	T	46	46	MED12L	T	2	2
IGSF10	285313	broad.mit.edu	37	3	151165007	151165007	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151165007G>T	uc011bod.1	-	4	2762	c.2762C>A	c.(2761-2763)CCA>CAA	p.P921Q		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	921					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---	capture		Missense_Mutation	SNP	151165007	151165007	7898	3	G	T	T	47	47	IGSF10	T	2	2
KCNAB1	7881	broad.mit.edu	37	3	156241655	156241655	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:156241655G>T	uc003far.2	+	12	1064	c.1000G>T	c.(1000-1002)GGG>TGG	p.G334W	KCNAB1_uc011bon.1_Missense_Mutation_p.G305W|KCNAB1_uc003fas.2_Missense_Mutation_p.G323W|KCNAB1_uc003fat.2_Missense_Mutation_p.G316W|KCNAB1_uc010hvt.1_Missense_Mutation_p.G287W|KCNAB1_uc011boo.1_Missense_Mutation_p.G210W	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related	334						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)															---	---	---	---	capture		Missense_Mutation	SNP	156241655	156241655	8314	3	G	T	T	35	35	KCNAB1	T	2	2
SI	6476	broad.mit.edu	37	3	164739160	164739160	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164739160G>T	uc003fei.2	-	27	3173	c.3111C>A	c.(3109-3111)CCC>CCA	p.P1037P		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1037	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---	capture		Silent	SNP	164739160	164739160	14792	3	G	T	T	43	43	SI	T	2	2
SI	6476	broad.mit.edu	37	3	164773014	164773014	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164773014G>T	uc003fei.2	-	13	1542	c.1480C>A	c.(1480-1482)CAT>AAT	p.H494N		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	494	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---	capture		Missense_Mutation	SNP	164773014	164773014	14792	3	G	T	T	47	47	SI	T	2	2
TNIK	23043	broad.mit.edu	37	3	170784375	170784375	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170784375G>T	uc003fhh.2	-	31	4194	c.3849C>A	c.(3847-3849)CCC>CCA	p.P1283P	TNIK_uc003fhi.2_Silent_p.P1228P|TNIK_uc003fhj.2_Silent_p.P1254P|TNIK_uc003fhk.2_Silent_p.P1275P|TNIK_uc003fhl.2_Silent_p.P1199P|TNIK_uc003fhm.2_Silent_p.P1220P|TNIK_uc003fhn.2_Silent_p.P1246P|TNIK_uc003fho.2_Silent_p.P1191P|TNIK_uc003fhg.2_Silent_p.P461P|TNIK_uc003fhp.2_Silent_p.P215P	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	1283	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)															---	---	---	---	capture		Silent	SNP	170784375	170784375	16854	3	G	T	T	47	47	TNIK	T	2	2
GHSR	2693	broad.mit.edu	37	3	172163133	172163133	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172163133C>T	uc003fib.1	-	2	919	c.919G>A	c.(919-921)GTG>ATG	p.V307M		NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	307	Helical; Name=7; (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)															---	---	---	---	capture		Missense_Mutation	SNP	172163133	172163133	6643	3	C	T	T	19	19	GHSR	T	1	1
YEATS2	55689	broad.mit.edu	37	3	183476656	183476656	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183476656C>A	uc003fly.2	+	13	1754	c.1559C>A	c.(1558-1560)CCT>CAT	p.P520H		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	520					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---	capture		Missense_Mutation	SNP	183476656	183476656	18055	3	C	A	A	24	24	YEATS2	A	2	2
HTR3C	170572	broad.mit.edu	37	3	183776363	183776363	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183776363G>C	uc003fmk.2	+	6	742	c.708G>C	c.(706-708)CAG>CAC	p.Q236H		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine receptor 3 subunit C	236	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)															---	---	---	---	capture		Missense_Mutation	SNP	183776363	183776363	7746	3	G	C	C	33	33	HTR3C	C	3	3
DGKG	1608	broad.mit.edu	37	3	185969618	185969618	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185969618G>T	uc003fqa.2	-	19	2228	c.1691C>A	c.(1690-1692)CCC>CAC	p.P564H	DGKG_uc003fqb.2_Missense_Mutation_p.P525H|DGKG_uc003fqc.2_Missense_Mutation_p.P539H|DGKG_uc011brx.1_Missense_Mutation_p.P505H	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	564	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)													---	---	---	---	capture		Missense_Mutation	SNP	185969618	185969618	4648	3	G	T	T	43	43	DGKG	T	2	2
ATP13A4	84239	broad.mit.edu	37	3	193182778	193182778	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193182778G>T	uc003ftd.2	-	12	1520	c.1412C>A	c.(1411-1413)CCC>CAC	p.P471H	ATP13A4_uc003fte.1_Missense_Mutation_p.P471H|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.2_RNA|ATP13A4_uc003ftf.3_Missense_Mutation_p.P177H	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	471	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)														---	---	---	---	capture		Missense_Mutation	SNP	193182778	193182778	1145	3	G	T	T	43	43	ATP13A4	T	2	2
ATP13A4	84239	broad.mit.edu	37	3	193207607	193207607	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193207607C>A	uc003ftd.2	-	7	758	c.650G>T	c.(649-651)TGG>TTG	p.W217L	ATP13A4_uc003fte.1_Missense_Mutation_p.W217L|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	217	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)														---	---	---	---	capture		Missense_Mutation	SNP	193207607	193207607	1145	3	C	A	A	21	21	ATP13A4	A	2	2
TFRC	7037	broad.mit.edu	37	3	195798304	195798304	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195798304C>A	uc003fvz.3	-	6	933	c.650G>T	c.(649-651)GGG>GTG	p.G217V	TFRC_uc003fwa.3_Missense_Mutation_p.G217V|TFRC_uc010hzy.2_Missense_Mutation_p.G136V|TFRC_uc011btr.1_5'UTR	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	217	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)				T	BCL6	NHL								---	---	---	---	capture		Missense_Mutation	SNP	195798304	195798304	16340	3	C	A	A	22	22	TFRC	A	2	2
HAUS3	79441	broad.mit.edu	37	4	2241768	2241768	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2241768G>A	uc003ges.1	-	2	1136	c.906C>T	c.(904-906)AGC>AGT	p.S302S	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Silent_p.S302S|HAUS3_uc003get.1_Silent_p.S302S	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	302					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4																		---	---	---	---	capture		Silent	SNP	2241768	2241768	7249	4	G	A	A	46	46	HAUS3	A	2	2
FAM193A	8603	broad.mit.edu	37	4	2673998	2673998	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2673998C>A	uc010icl.2	+	11	1708	c.1357C>A	c.(1357-1359)CCT>ACT	p.P453T	FAM193A_uc010ick.2_Missense_Mutation_p.P653T|FAM193A_uc003gfd.2_Missense_Mutation_p.P453T|FAM193A_uc011bvm.1_Missense_Mutation_p.P475T|FAM193A_uc011bvn.1_Missense_Mutation_p.P453T|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.P307T	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	453										ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	2673998	2673998	5735	4	C	A	A	22	22	FAM193A	A	2	2
STK32B	55351	broad.mit.edu	37	4	5448438	5448438	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5448438G>A	uc003gih.1	+	7	665	c.601G>A	c.(601-603)GGA>AGA	p.G201R	STK32B_uc010ida.1_Missense_Mutation_p.G154R	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	201	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	5448438	5448438	15818	4	G	A	A	39	39	STK32B	A	1	1
KCNIP4	80333	broad.mit.edu	37	4	20751284	20751284	+	Splice_Site	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20751284C>T	uc003gqe.2	-	4	462	c.378_splice	c.e4+1	p.E126_splice	KCNIP4_uc003gqf.1_Splice_Site_p.E122_splice|KCNIP4_uc003gqg.1_Splice_Site_p.E81_splice|KCNIP4_uc003gqh.1_Splice_Site_p.E118_splice|KCNIP4_uc003gqi.1_Splice_Site_p.E81_splice|PACRGL_uc003gpu.2_Intron|PACRGL_uc003gpx.3_Intron|PACRGL_uc003gpw.2_Intron|KCNIP4_uc010iel.2_Splice_Site_p.E123_splice|KCNIP4_uc003gqd.3_Splice_Site_p.E106_splice	NM_147182	NP_671711			Kv channel interacting protein 4 isoform 3							plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)																---	---	---	---	capture		Splice_Site	SNP	20751284	20751284	8347	4	C	T	T	18	18	KCNIP4	T	5	2
GPR125	166647	broad.mit.edu	37	4	22449131	22449131	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:22449131G>C	uc003gqm.1	-	5	742	c.477C>G	c.(475-477)AAC>AAG	p.N159K	GPR125_uc010ieo.1_Missense_Mutation_p.N33K|GPR125_uc003gqo.2_Missense_Mutation_p.N159K	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	159	Extracellular (Potential).|LRR 4.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)																---	---	---	---	capture		Missense_Mutation	SNP	22449131	22449131	6913	4	G	C	C	44	44	GPR125	C	3	3
PCDH7	5099	broad.mit.edu	37	4	30724912	30724912	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:30724912C>G	uc003gsk.1	+	1	2876	c.1868C>G	c.(1867-1869)ACT>AGT	p.T623S	PCDH7_uc011bxw.1_Missense_Mutation_p.T576S|PCDH7_uc011bxx.1_Missense_Mutation_p.T623S	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	623	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	30724912	30724912	11936	4	C	G	G	20	20	PCDH7	G	3	3
GUF1	60558	broad.mit.edu	37	4	44688624	44688624	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:44688624G>T	uc003gww.3	+	8	1039	c.832G>T	c.(832-834)GGA>TGA	p.G278*	GUF1_uc010ifz.1_RNA	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	278					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	44688624	44688624	7179	4	G	T	T	39	39	GUF1	T	5	1
CORIN	10699	broad.mit.edu	37	4	47597740	47597740	+	Nonstop_Mutation	SNP	A	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47597740A>T	uc003gxm.2	-	22	3220	c.3127T>A	c.(3127-3129)TAA>AAA	p.*1043K	CORIN_uc011bzf.1_Nonstop_Mutation_p.*904K|CORIN_uc011bzg.1_Nonstop_Mutation_p.*976K	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	1043					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Nonstop_Mutation	SNP	47597740	47597740	3890	4	A	T	T	15	15	CORIN	T	5	4
KDR	3791	broad.mit.edu	37	4	55970835	55970835	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55970835G>T	uc003has.2	-	13	2264	c.1962C>A	c.(1960-1962)TGC>TGA	p.C654*	KDR_uc003hat.1_Nonsense_Mutation_p.C654*|KDR_uc011bzx.1_Nonsense_Mutation_p.C654*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	654	Ig-like C2-type 6.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			---	---	---	---	capture		Nonsense_Mutation	SNP	55970835	55970835	8445	4	G	T	T	38	38	KDR	T	5	1
CLOCK	9575	broad.mit.edu	37	4	56308750	56308750	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:56308750G>C	uc003haz.1	-	22	2880	c.1954C>G	c.(1954-1956)CAG>GAG	p.Q652E	CLOCK_uc003hba.1_Missense_Mutation_p.Q652E|CLOCK_uc010igu.1_RNA	NM_004898	NP_004889	O15516	CLOCK_HUMAN	clock	652					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.Q652K(1)		central_nervous_system(2)|ovary(1)	3	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)															---	---	---	---	capture		Missense_Mutation	SNP	56308750	56308750	3687	4	G	C	C	45	45	CLOCK	C	3	3
C4orf35	85438	broad.mit.edu	37	4	71201572	71201572	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71201572C>A	uc003hff.2	+	1	902	c.816C>A	c.(814-816)ACC>ACA	p.T272T		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	272						flagellum	calcium ion binding				0		all_hematologic(202;0.196)																---	---	---	---	capture		Silent	SNP	71201572	71201572	2360	4	C	A	A	24	24	C4orf35	A	2	2
SLC4A4	8671	broad.mit.edu	37	4	72306394	72306394	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:72306394G>T	uc003hfy.2	+	8	986	c.869G>T	c.(868-870)GGG>GTG	p.G290V	SLC4A4_uc010iic.2_Missense_Mutation_p.G290V|SLC4A4_uc010iib.2_Missense_Mutation_p.G290V|SLC4A4_uc003hfz.2_Missense_Mutation_p.G290V|SLC4A4_uc003hgc.3_Missense_Mutation_p.G246V|SLC4A4_uc003hga.2_Missense_Mutation_p.G168V|SLC4A4_uc003hgb.3_Missense_Mutation_p.G246V	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	290	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)															---	---	---	---	capture		Missense_Mutation	SNP	72306394	72306394	15153	4	G	T	T	43	43	SLC4A4	T	2	2
ANKRD17	26057	broad.mit.edu	37	4	73956955	73956955	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73956955G>T	uc003hgp.2	-	29	6507	c.6390C>A	c.(6388-6390)CCC>CCA	p.P2130P	ANKRD17_uc003hgo.2_Silent_p.P2017P|ANKRD17_uc003hgq.2_Silent_p.P1879P|ANKRD17_uc003hgr.2_Silent_p.P2129P	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2130					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---	capture		Silent	SNP	73956955	73956955	649	4	G	T	T	43	43	ANKRD17	T	2	2
PARM1	25849	broad.mit.edu	37	4	75938085	75938085	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:75938085C>A	uc003hih.1	+	2	734	c.494C>A	c.(493-495)CCA>CAA	p.P165Q		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	prostatic androgen-repressed message-1	165	Extracellular (Potential).				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	75938085	75938085	11869	4	C	A	A	21	21	PARM1	A	2	2
G3BP2	9908	broad.mit.edu	37	4	76570869	76570869	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76570869C>A	uc003hir.2	-	12	1359	c.1194G>T	c.(1192-1194)GGG>GGT	p.G398G	G3BP2_uc003his.2_Silent_p.G398G|G3BP2_uc003hit.2_Silent_p.G365G	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	398	RRM.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)															---	---	---	---	capture		Silent	SNP	76570869	76570869	6393	4	C	A	A	22	22	G3BP2	A	2	2
SDAD1	55153	broad.mit.edu	37	4	76879088	76879088	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76879088C>A	uc003hje.3	-	18	1609	c.1490G>T	c.(1489-1491)TGG>TTG	p.W497L	SDAD1_uc003hjf.3_Missense_Mutation_p.W400L|SDAD1_uc011cbr.1_Missense_Mutation_p.W460L	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	497					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---	capture		Missense_Mutation	SNP	76879088	76879088	14435	4	C	A	A	21	21	SDAD1	A	2	2
PLA2G12A	81579	broad.mit.edu	37	4	110635635	110635635	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110635635C>A	uc003hzp.2	-	4	745	c.468G>T	c.(466-468)GTG>GTT	p.V156V	PLA2G12A_uc010img.2_Silent_p.V154V	NM_030821	NP_110448	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA precursor	156					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity				0				OV - Ovarian serous cystadenocarcinoma(123;0.000268)														---	---	---	---	capture		Silent	SNP	110635635	110635635	12416	4	C	A	A	21	21	PLA2G12A	A	2	2
CAMK2D	817	broad.mit.edu	37	4	114378622	114378622	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114378622G>A	uc003ibi.2	-	17	2161	c.1302C>T	c.(1300-1302)CTC>CTT	p.L434L	CAMK2D_uc003ibj.2_Silent_p.L434L|CAMK2D_uc003ibk.2_Silent_p.L434L|CAMK2D_uc003ibo.3_Silent_p.L468L|CAMK2D_uc003ibm.2_Silent_p.L448L|CAMK2D_uc003ibn.2_Silent_p.L445L|CAMK2D_uc003ibl.2_Silent_p.L434L	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II	434					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)														---	---	---	---	capture		Silent	SNP	114378622	114378622	2718	4	G	A	A	45	45	CAMK2D	A	2	2
GAB1	2549	broad.mit.edu	37	4	144387363	144387363	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:144387363C>A	uc003ije.2	+	9	2270	c.1911C>A	c.(1909-1911)TCC>TCA	p.S637S	GAB1_uc003ijd.2_Silent_p.S667S|GAB1_uc011chq.1_Silent_p.S534S	NM_002039	NP_002030	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1 isoform b	637					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(2)|lung(1)|skin(1)	4	all_hematologic(180;0.158)																	---	---	---	---	capture		Silent	SNP	144387363	144387363	6399	4	C	A	A	21	21	GAB1	A	2	2
PRMT10	90826	broad.mit.edu	37	4	148605110	148605110	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:148605110C>A	uc003ilc.2	-	1	171	c.29G>T	c.(28-30)CGA>CTA	p.R10L	PRMT10_uc003ild.2_5'UTR	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	10						cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	148605110	148605110	12979	4	C	A	A	31	31	PRMT10	A	1	1
SH3D19	152503	broad.mit.edu	37	4	152095916	152095916	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:152095916C>A	uc010ipl.1	-	7	1690	c.600G>T	c.(598-600)TTG>TTT	p.L200F	SH3D19_uc003imc.2_Missense_Mutation_p.L200F|SH3D19_uc003ime.2_Missense_Mutation_p.L200F|SH3D19_uc010ipm.2_Missense_Mutation_p.L200F	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	SH3 domain containing 19 isoform a	200	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			ovary(1)|skin(1)	2	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)																---	---	---	---	capture		Missense_Mutation	SNP	152095916	152095916	14740	4	C	A	A	21	21	SH3D19	A	2	2
DCHS2	54798	broad.mit.edu	37	4	155156418	155156418	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155156418C>A	uc003inw.2	-	25	8021	c.8021G>T	c.(8020-8022)AGG>ATG	p.R2674M		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2674					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)														---	---	---	---	capture		Missense_Mutation	SNP	155156418	155156418	4459	4	C	A	A	24	24	DCHS2	A	2	2
FAM198B	51313	broad.mit.edu	37	4	159052033	159052033	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159052033C>A	uc003ipp.3	-	4	1709	c.1257G>T	c.(1255-1257)AAG>AAT	p.K419N	FAM198B_uc003ipq.3_Missense_Mutation_p.K427N|FAM198B_uc003ipr.3_Missense_Mutation_p.K419N	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	419	Extracellular (Potential).					Golgi membrane|integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	159052033	159052033	5743	4	C	A	A	28	28	FAM198B	A	2	2
C4orf46	201725	broad.mit.edu	37	4	159592877	159592877	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159592877G>C	uc003iqa.2	-	1	326	c.77C>G	c.(76-78)TCT>TGT	p.S26C	C4orf46_uc010iqp.1_Intron|ETFDH_uc010iqq.2_5'Flank|ETFDH_uc003iqb.2_5'Flank|ETFDH_uc011cjg.1_5'Flank|ETFDH_uc010iqr.2_5'Flank	NM_001008393	NP_001008394	Q504U0	CD046_HUMAN	hypothetical protein LOC201725	26										skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	159592877	159592877	2369	4	G	C	C	33	33	C4orf46	C	3	3
C4orf39	152756	broad.mit.edu	37	4	165878325	165878325	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:165878325G>T	uc003iqx.1	+	1	226	c.151G>T	c.(151-153)GGC>TGC	p.G51C	TRIM61_uc003iqw.2_Intron	NM_153027	NP_694572	Q96MZ4	CD039_HUMAN	hypothetical protein LOC152756	51											0	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.146)														---	---	---	---	capture		Missense_Mutation	SNP	165878325	165878325	2363	4	G	T	T	39	39	C4orf39	T	1	1
KIAA1712	80817	broad.mit.edu	37	4	175231093	175231093	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:175231093G>T	uc003itr.2	+	8	1185	c.771G>T	c.(769-771)AGG>AGT	p.R257S	KIAA1712_uc010iro.2_Missense_Mutation_p.R257S|KIAA1712_uc003its.2_RNA	NM_001040157	NP_001035247	Q9C0F1	CEP44_HUMAN	HBV PreS1-transactivated protein 3 isoform a	257	Potential.					centrosome|midbody|spindle pole					0		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)														---	---	---	---	capture		Missense_Mutation	SNP	175231093	175231093	8563	4	G	T	T	44	44	KIAA1712	T	2	2
ANKH	56172	broad.mit.edu	37	5	14711350	14711350	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14711350C>A	uc003jfm.3	-	12	1766	c.1435G>T	c.(1435-1437)GAG>TAG	p.E479*	ANKH_uc003jfl.3_Nonsense_Mutation_p.E192*	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	479	Cytoplasmic (Potential).				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			upper_aerodigestive_tract(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	14711350	14711350	630	5	C	A	A	32	32	ANKH	A	5	2
NIPBL	25836	broad.mit.edu	37	5	36984825	36984825	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36984825G>T	uc003jkl.3	+	10	2042	c.1543G>T	c.(1543-1545)GGG>TGG	p.G515W	NIPBL_uc003jkk.3_Missense_Mutation_p.G515W|NIPBL_uc003jkm.1_Missense_Mutation_p.G394W	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	515					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	36984825	36984825	10829	5	G	T	T	47	47	NIPBL	T	2	2
NIPBL	25836	broad.mit.edu	37	5	36986048	36986048	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36986048G>T	uc003jkl.3	+	10	3265	c.2766G>T	c.(2764-2766)GAG>GAT	p.E922D	NIPBL_uc003jkk.3_Missense_Mutation_p.E922D|NIPBL_uc003jkm.1_Missense_Mutation_p.E801D	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	922					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	36986048	36986048	10829	5	G	T	T	35	35	NIPBL	T	2	2
MAST4	375449	broad.mit.edu	37	5	66460893	66460893	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:66460893C>A	uc003jut.1	+	28	5387	c.5319C>A	c.(5317-5319)TCC>TCA	p.S1773S	MAST4_uc003juw.2_Silent_p.S1701S|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1965						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)														---	---	---	---	capture		Silent	SNP	66460893	66460893	9711	5	C	A	A	22	22	MAST4	A	2	2
HMGCR	3156	broad.mit.edu	37	5	74651226	74651226	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74651226G>T	uc003kdp.2	+	14	1915	c.1759G>T	c.(1759-1761)GGG>TGG	p.G587W	HMGCR_uc011cst.1_Missense_Mutation_p.G607W|HMGCR_uc003kdq.2_Missense_Mutation_p.G534W	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	587	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)													---	---	---	---	capture		Missense_Mutation	SNP	74651226	74651226	7522	5	G	T	T	47	47	HMGCR	T	2	2
FER	2241	broad.mit.edu	37	5	108290449	108290449	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108290449T>G	uc003kop.1	+	12	1733	c.1349T>G	c.(1348-1350)ATC>AGC	p.I450S	FER_uc011cvf.1_RNA|FER_uc011cvg.1_Missense_Mutation_p.I275S	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	450					intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)														---	---	---	---	capture		Missense_Mutation	SNP	108290449	108290449	6050	5	T	G	G	50	50	FER	G	4	4
PJA2	9867	broad.mit.edu	37	5	108714608	108714608	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108714608G>A	uc003kos.3	-	4	800	c.580C>T	c.(580-582)CAG>TAG	p.Q194*		NM_014819	NP_055634	O43164	PJA2_HUMAN	praja 2, RING-H2 motif containing	194					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)														---	---	---	---	capture		Nonsense_Mutation	SNP	108714608	108714608	12386	5	G	A	A	47	47	PJA2	A	5	2
YTHDC2	64848	broad.mit.edu	37	5	112899572	112899572	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112899572A>G	uc003kqn.2	+	20	2642	c.2459A>G	c.(2458-2460)GAT>GGT	p.D820G		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	820							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)														---	---	---	---	capture		Missense_Mutation	SNP	112899572	112899572	18080	5	A	G	G	12	12	YTHDC2	G	4	4
AQPEP	206338	broad.mit.edu	37	5	115351326	115351326	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115351326T>C	uc003kro.2	+	18	2784	c.2620T>C	c.(2620-2622)TAT>CAT	p.Y874H	AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	874	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	115351326	115351326	845	5	T	C	C	49	49	AQPEP	C	4	4
FBN2	2201	broad.mit.edu	37	5	127597470	127597470	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127597470G>T	uc003kuu.2	-	64	8761	c.8322C>A	c.(8320-8322)GAC>GAA	p.D2774E		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2774					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---	capture		Missense_Mutation	SNP	127597470	127597470	5939	5	G	T	T	48	48	FBN2	T	2	2
TGFBI	7045	broad.mit.edu	37	5	135388688	135388688	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:135388688G>A	uc003lbf.3	+	8	1167	c.1006G>A	c.(1006-1008)GAG>AAG	p.E336K	TGFBI_uc003lbg.3_Missense_Mutation_p.E69K|TGFBI_uc003lbh.3_Missense_Mutation_p.E162K|TGFBI_uc011cyb.1_Missense_Mutation_p.E162K|TGFBI_uc010jed.2_Missense_Mutation_p.E69K	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	336	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---	capture		Missense_Mutation	SNP	135388688	135388688	16348	5	G	A	A	41	41	TGFBI	A	2	2
KDM3B	51780	broad.mit.edu	37	5	137761207	137761207	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137761207G>C	uc003lcy.1	+	17	4547	c.4347G>C	c.(4345-4347)AGG>AGC	p.R1449S	KDM3B_uc010jew.1_Missense_Mutation_p.R1105S|KDM3B_uc011cys.1_Missense_Mutation_p.R481S	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1449					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11																		---	---	---	---	capture		Missense_Mutation	SNP	137761207	137761207	8433	5	G	C	C	41	41	KDM3B	C	3	3
PCDHGC5	56097	broad.mit.edu	37	5	140870107	140870107	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140870107C>A	uc003lla.1	+	1	1300	c.1300C>A	c.(1300-1302)CTA>ATA	p.L434I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.L434I	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	434	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140870107	140870107	11991	5	C	A	A	24	24	PCDHGC5	A	2	2
ABLIM3	22885	broad.mit.edu	37	5	148619402	148619402	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148619402G>T	uc003lpy.2	+	13	1406	c.1155G>T	c.(1153-1155)CAG>CAT	p.Q385H	ABLIM3_uc003lpz.1_Missense_Mutation_p.Q385H|ABLIM3_uc003lqa.1_Missense_Mutation_p.Q331H|ABLIM3_uc003lqb.2_Missense_Mutation_p.Q323H|ABLIM3_uc003lqc.1_Missense_Mutation_p.Q385H|ABLIM3_uc003lqd.1_Missense_Mutation_p.Q323H|ABLIM3_uc003lqf.2_Missense_Mutation_p.Q323H|ABLIM3_uc003lqe.1_Missense_Mutation_p.Q323H	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	385					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	148619402	148619402	97	5	G	T	T	35	35	ABLIM3	T	2	2
CYFIP2	26999	broad.mit.edu	37	5	156731318	156731318	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156731318G>T	uc003lwq.2	+	10	877	c.739G>T	c.(739-741)GAT>TAT	p.D247Y	CYFIP2_uc011ddn.1_Missense_Mutation_p.D221Y|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Missense_Mutation_p.D247Y|CYFIP2_uc003lws.2_Missense_Mutation_p.D247Y|CYFIP2_uc003lwt.2_Missense_Mutation_p.D125Y|CYFIP2_uc011ddp.1_Intron|CYFIP2_uc003lwp.2_Missense_Mutation_p.D125Y	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	247					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---	capture		Missense_Mutation	SNP	156731318	156731318	4303	5	G	T	T	41	41	CYFIP2	T	2	2
IL12B	3593	broad.mit.edu	37	5	158747500	158747500	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:158747500C>A	uc003lxr.1	-	5	553	c.511G>T	c.(511-513)GGA>TGA	p.G171*		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	171					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---	capture		Nonsense_Mutation	SNP	158747500	158747500	7926	5	C	A	A	23	23	IL12B	A	5	1
ADRA1B	147	broad.mit.edu	37	5	159398990	159398990	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:159398990A>C	uc003lxt.1	+	2	1227	c.1054A>C	c.(1054-1056)AGC>CGC	p.S352R		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	352	Cytoplasmic (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			lung(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)													---	---	---	---	capture		Missense_Mutation	SNP	159398990	159398990	336	5	A	C	C	7	7	ADRA1B	C	4	4
PWWP2A	114825	broad.mit.edu	37	5	159520835	159520835	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:159520835G>T	uc011ded.1	-	2	879	c.822C>A	c.(820-822)CCC>CCA	p.P274P	PWWP2A_uc003lxv.3_Silent_p.P274P|PWWP2A_uc011dec.1_Silent_p.P274P	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A isoform b	274	Pro-rich.										0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---	capture		Silent	SNP	159520835	159520835	13303	5	G	T	T	43	43	PWWP2A	T	2	2
GABRG2	2566	broad.mit.edu	37	5	161495049	161495049	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:161495049C>A	uc003lyz.3	+	1	402	c.44C>A	c.(43-45)TCG>TAG	p.S15*	GABRG2_uc010jjc.2_Nonsense_Mutation_p.S15*|GABRG2_uc003lyy.3_Nonsense_Mutation_p.S15*|GABRG2_uc011dej.1_5'UTR	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	15					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)														---	---	---	---	capture		Nonsense_Mutation	SNP	161495049	161495049	6423	5	C	A	A	31	31	GABRG2	A	5	1
WWC1	23286	broad.mit.edu	37	5	167833230	167833230	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167833230G>T	uc003lzu.2	+	6	711	c.618G>T	c.(616-618)CAG>CAT	p.Q206H	WWC1_uc003lzv.2_Missense_Mutation_p.Q206H|WWC1_uc011den.1_Missense_Mutation_p.Q206H|WWC1_uc003lzw.2_Missense_Mutation_p.Q5H	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	206					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)														---	---	---	---	capture		Missense_Mutation	SNP	167833230	167833230	17985	5	G	T	T	35	35	WWC1	T	2	2
PANK3	79646	broad.mit.edu	37	5	167995926	167995926	+	Nonsense_Mutation	SNP	C	A	A	rs71603869		TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167995926C>A	uc003lzz.1	-	2	406	c.106G>T	c.(106-108)GAG>TAG	p.E36*		NM_024594	NP_078870	Q9H999	PANK3_HUMAN	pantothenate kinase 3	36					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)														---	---	---	---	capture		Nonsense_Mutation	SNP	167995926	167995926	11835	5	C	A	A	32	32	PANK3	A	5	2
RANBP17	64901	broad.mit.edu	37	5	170337973	170337973	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170337973G>A	uc003mba.2	+	7	611	c.595G>A	c.(595-597)GTG>ATG	p.V199M	RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA|RANBP17_uc003maw.2_3'UTR|RANBP17_uc011dew.1_Missense_Mutation_p.V199M	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	199				V -> A (in Ref. 3; BAB55427).	mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)					T	TRD@	ALL								---	---	---	---	capture		Missense_Mutation	SNP	170337973	170337973	13487	5	G	A	A	44	44	RANBP17	A	2	2
BOD1	91272	broad.mit.edu	37	5	173036295	173036295	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:173036295G>T	uc003mcq.2	-	3	732	c.505C>A	c.(505-507)CCT>ACT	p.P169T	BOD1_uc003mcr.2_Intron	NM_138369	NP_612378	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	169					cell division|mitosis	condensed chromosome kinetochore|microtubule organizing center				ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	173036295	173036295	1507	5	G	T	T	43	43	BOD1	T	2	2
HMP19	51617	broad.mit.edu	37	5	173534370	173534370	+	Silent	SNP	C	G	G	rs11557147		TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:173534370C>G	uc003mcx.2	+	5	523	c.378C>G	c.(376-378)CCC>CCG	p.P126P	HMP19_uc011dfh.1_Missense_Mutation_p.P30R	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	HMP19 protein	126	Lumenal (Potential).				dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)															---	---	---	---	capture		Silent	SNP	173534370	173534370	7537	5	C	G	G	21	21	HMP19	G	3	3
SFXN1	94081	broad.mit.edu	37	5	174919163	174919163	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:174919163C>G	uc003mda.2	+	2	195	c.57C>G	c.(55-57)AGC>AGG	p.S19R	SFXN1_uc003mdb.1_5'UTR	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	19					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			ovary(1)	1	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)															---	---	---	---	capture		Missense_Mutation	SNP	174919163	174919163	14685	5	C	G	G	25	25	SFXN1	G	3	3
NSD1	64324	broad.mit.edu	37	5	176562369	176562369	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176562369G>T	uc003mfr.3	+	2	403	c.265G>T	c.(265-267)GGG>TGG	p.G89W	NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Missense_Mutation_p.G89W|NSD1_uc011dfx.1_Intron|NSD1_uc003mfp.2_Missense_Mutation_p.G89W|NSD1_uc003mfq.2_Missense_Mutation_p.G89W	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	89					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)				T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			---	---	---	---	capture		Missense_Mutation	SNP	176562369	176562369	11074	5	G	T	T	47	47	NSD1	T	2	2
ZNF454	285676	broad.mit.edu	37	5	178391831	178391831	+	Silent	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178391831C>T	uc003mjo.1	+	5	697	c.426C>T	c.(424-426)CTC>CTT	p.L142L	ZNF454_uc010jkz.1_Silent_p.L142L	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)														---	---	---	---	capture		Silent	SNP	178391831	178391831	18516	5	C	T	T	29	29	ZNF454	T	2	2
MAPK9	5601	broad.mit.edu	37	5	179668071	179668071	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179668071G>T	uc003mls.3	-	9	1227	c.956C>A	c.(955-957)CCA>CAA	p.P319Q	MAPK9_uc003mlt.3_Missense_Mutation_p.P319Q|MAPK9_uc010jlc.2_Missense_Mutation_p.P319Q|MAPK9_uc003mlv.3_Missense_Mutation_p.P319Q	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	319	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---	capture		Missense_Mutation	SNP	179668071	179668071	9670	5	G	T	T	47	47	MAPK9	T	2	2
TXNDC5	81567	broad.mit.edu	37	6	7884689	7884689	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7884689C>A	uc003mxv.2	-	9	1111	c.1079G>T	c.(1078-1080)TGG>TTG	p.W360L	TXNDC5_uc003mxw.2_Missense_Mutation_p.W317L|TXNDC5_uc010jnz.2_Missense_Mutation_p.W252L	NM_030810	NP_110437	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 isoform 1	360	Thioredoxin 3.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity				0	Ovarian(93;0.0398)																	---	---	---	---	capture		Missense_Mutation	SNP	7884689	7884689	17355	6	C	A	A	21	21	TXNDC5	A	2	2
CDKAL1	54901	broad.mit.edu	37	6	20546619	20546619	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:20546619T>C	uc003ndc.1	+	3	212	c.38T>C	c.(37-39)ATC>ACC	p.I13T	CDKAL1_uc003ndd.1_Missense_Mutation_p.I13T|CDKAL1_uc003nde.1_5'UTR|CDKAL1_uc010jpo.1_Missense_Mutation_p.I13T|CDKAL1_uc003ndb.1_Missense_Mutation_p.I13T	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	13					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)															---	---	---	---	capture		Missense_Mutation	SNP	20546619	20546619	3281	6	T	C	C	50	50	CDKAL1	C	4	4
C6orf62	81688	broad.mit.edu	37	6	24718892	24718892	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24718892C>A	uc003nel.2	-	1	512	c.5G>T	c.(4-6)GGG>GTG	p.G2V		NM_030939	NP_112201	Q9GZU0	CF062_HUMAN	hypothetical protein LOC81688	2						intracellular					0																		---	---	---	---	capture		Missense_Mutation	SNP	24718892	24718892	2474	6	C	A	A	22	22	C6orf62	A	2	2
HIST1H2BM	8342	broad.mit.edu	37	6	27783015	27783015	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27783015C>G	uc003njo.2	+	1	194	c.194C>G	c.(193-195)TCC>TGC	p.S65C	HIST1H2AJ_uc003njn.1_5'Flank	NM_003521	NP_003512	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	65					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	27783015	27783015	7437	6	C	G	G	30	30	HIST1H2BM	G	3	3
ZNF192	7745	broad.mit.edu	37	6	28121094	28121094	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28121094G>T	uc003nkn.1	+	6	1220	c.1036G>T	c.(1036-1038)GGG>TGG	p.G346W	ZNF192_uc010jqx.1_Missense_Mutation_p.G346W|ZNF192_uc010jqy.1_Missense_Mutation_p.G159W|ZNF192_uc011dkz.1_Missense_Mutation_p.G159W	NM_006298	NP_006289	Q15776	ZN192_HUMAN	zinc finger protein 192	346					viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	28121094	28121094	18347	6	G	T	T	47	47	ZNF192	T	2	2
GPX5	2880	broad.mit.edu	37	6	28493833	28493833	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28493833C>A	uc003nll.2	+	1	45	c.43C>A	c.(43-45)CTA>ATA	p.L15I	GPX5_uc003nlm.2_Missense_Mutation_p.L15I|GPX5_uc003nln.2_5'Flank	NM_001509	NP_001500	O75715	GPX5_HUMAN	glutathione peroxidase 5 isoform 1 precursor	15					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			skin(1)	1					Glutathione(DB00143)													---	---	---	---	capture		Missense_Mutation	SNP	28493833	28493833	7019	6	C	A	A	24	24	GPX5	A	2	2
HLA-A	3105	broad.mit.edu	37	6	29911087	29911087	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29911087C>A	uc003nol.2	+	3	386	c.386C>A	c.(385-387)TCG>TAG	p.S129*	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_Nonsense_Mutation_p.S8*|HLA-A_uc003nok.2_Nonsense_Mutation_p.S8*|HLA-A_uc003non.2_Nonsense_Mutation_p.S129*|HLA-A_uc003noo.2_Nonsense_Mutation_p.S129*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.S129*|HLA-A_uc003nom.2_Nonsense_Mutation_p.S8*|HLA-A_uc010klp.2_Nonsense_Mutation_p.S101*|HLA-A_uc011dmc.1_Nonsense_Mutation_p.S8*|HLA-A_uc011dmd.1_Nonsense_Mutation_p.S8*	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	129	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2														Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			---	---	---	---	capture		Nonsense_Mutation	SNP	29911087	29911087	7486	6	C	A	A	31	31	HLA-A	A	5	1
MUC21	394263	broad.mit.edu	37	6	30954993	30954993	+	Silent	SNP	C	T	T	rs55809174		TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30954993C>T	uc003nsh.2	+	2	1292	c.1041C>T	c.(1039-1041)AAC>AAT	p.N347N	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	347	Ser-rich.|28 X 15 AA approximate tandem repeats.|22.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	30954993	30954993	10371	6	C	T	T	20	20	MUC21	T	2	2
APOM	55937	broad.mit.edu	37	6	31624395	31624395	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31624395C>A	uc003nvl.2	+	2	334	c.261C>A	c.(259-261)ACC>ACA	p.T87T	APOM_uc003nvk.2_Silent_p.T15T	NM_019101	NP_061974	O95445	APOM_HUMAN	apolipoprotein M	87					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity				0																		---	---	---	---	capture		Silent	SNP	31624395	31624395	823	6	C	A	A	21	21	APOM	A	2	2
C6orf27	80737	broad.mit.edu	37	6	31733715	31733715	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31733715G>T	uc011dog.1	-	16	2682	c.2444C>A	c.(2443-2445)CCA>CAA	p.P815Q		NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	815						extracellular region				ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	31733715	31733715	2467	6	G	T	T	47	47	C6orf27	T	2	2
HLA-DQA1	3117	broad.mit.edu	37	6	32610020	32610020	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32610020G>T	uc003obr.2	+	3	656	c.603G>T	c.(601-603)CTG>CTT	p.L201L	HLA-DQA1_uc003obs.2_RNA|HLA-DQA1_uc003obt.1_Silent_p.L201L|HLA-DQA1_uc003obu.2_5'Flank	NM_002122	NP_002113	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ	200	Ig-like C1-type.|Alpha-2.|Extracellular (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0																		---	---	---	---	capture		Silent	SNP	32610020	32610020	7495	6	G	T	T	45	45	HLA-DQA1	T	2	2
HLA-DQA2	3118	broad.mit.edu	37	6	32713839	32713839	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32713839G>T	uc003obx.2	+	3	661	c.603G>T	c.(601-603)CTG>CTT	p.L201L		NM_020056	NP_064440	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ	201	Alpha-2.|Extracellular (Potential).|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---	capture		Silent	SNP	32713839	32713839	7496	6	G	T	T	45	45	HLA-DQA2	T	2	2
HLA-DOB	3112	broad.mit.edu	37	6	32781028	32781028	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32781028C>A	uc003oca.2	-	6	884	c.787G>T	c.(787-789)GTC>TTC	p.V263F		NM_002120	NP_002111	P13765	DOB_HUMAN	major histocompatibility complex, class II, DO	263	Cytoplasmic (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	32781028	32781028	7492	6	C	A	A	18	18	HLA-DOB	A	2	2
PSMB8	5696	broad.mit.edu	37	6	32808780	32808780	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32808780C>A	uc003oce.2	-	6	830	c.787G>T	c.(787-789)GAT>TAT	p.D263Y	TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003occ.2_5'Flank|TAP2_uc003ocd.2_5'Flank|PSMB8_uc003ocf.2_Missense_Mutation_p.D259Y	NM_148919	NP_683720	P28062	PSB8_HUMAN	proteasome beta 8 subunit isoform E2 proprotein	263					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|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	32808780	32808780	13136	6	C	A	A	32	32	PSMB8	A	2	2
ITPR3	3710	broad.mit.edu	37	6	33659584	33659584	+	Missense_Mutation	SNP	G	T	T	rs146607771		TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33659584G>T	uc011drk.1	+	54	7556	c.7337G>T	c.(7336-7338)AGG>ATG	p.R2446M	ITPR3_uc003oey.2_Missense_Mutation_p.R533M	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2446	Extracellular (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19																		---	---	---	---	capture		Missense_Mutation	SNP	33659584	33659584	8226	6	G	T	T	35	35	ITPR3	T	2	2
PGK2	5232	broad.mit.edu	37	6	49754273	49754273	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49754273C>A	uc003ozu.2	-	1	735	c.628G>T	c.(628-630)GCT>TCT	p.A210S		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	210					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)																	---	---	---	---	capture		Missense_Mutation	SNP	49754273	49754273	12214	6	C	A	A	26	26	PGK2	A	2	2
DST	667	broad.mit.edu	37	6	56334983	56334983	+	Silent	SNP	A	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56334983A>C	uc003pdf.2	-	90	16090	c.16062T>G	c.(16060-16062)CTT>CTG	p.L5354L	DST_uc003pcz.3_Silent_p.L5176L|DST_uc011dxj.1_Silent_p.L5205L|DST_uc011dxk.1_Silent_p.L5216L|DST_uc003pcy.3_Silent_p.L4850L|DST_uc003pcw.3_5'Flank|DST_uc003pcx.3_5'Flank	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7262	EF-hand 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---	capture		Silent	SNP	56334983	56334983	4967	6	A	C	C	9	9	DST	C	4	4
RIMS1	22999	broad.mit.edu	37	6	72957822	72957822	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:72957822C>T	uc003pga.2	+	12	2310	c.2233C>T	c.(2233-2235)CAA>TAA	p.Q745*	RIMS1_uc011dyb.1_Nonsense_Mutation_p.Q371*|RIMS1_uc003pgc.2_Nonsense_Mutation_p.Q371*|RIMS1_uc010kaq.2_Nonsense_Mutation_p.Q219*|RIMS1_uc011dyc.1_Nonsense_Mutation_p.Q219*|RIMS1_uc010kar.2_Nonsense_Mutation_p.Q138*|RIMS1_uc011dyd.1_Nonsense_Mutation_p.Q204*|RIMS1_uc003pgf.2_5'Flank|RIMS1_uc003pgg.2_5'Flank|RIMS1_uc003pgi.2_5'Flank|RIMS1_uc003pgh.2_5'Flank|RIMS1_uc003pgd.2_5'Flank|RIMS1_uc003pge.2_5'Flank|RIMS1_uc003pgb.3_Nonsense_Mutation_p.Q371*|RIMS1_uc010kas.1_Nonsense_Mutation_p.Q204*	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	745	C2 1.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)																---	---	---	---	capture		Nonsense_Mutation	SNP	72957822	72957822	13844	6	C	T	T	25	25	RIMS1	T	5	2
DPPA5	340168	broad.mit.edu	37	6	74063911	74063911	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74063911C>A	uc003pgs.1	-	1	43	c.38G>T	c.(37-39)TGG>TTG	p.W13L		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	13					multicellular organismal development	cytoplasm	RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	74063911	74063911	4921	6	C	A	A	21	21	DPPA5	A	2	2
MYO6	4646	broad.mit.edu	37	6	76566857	76566857	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76566857C>A	uc003pih.1	+	13	1546	c.1267C>A	c.(1267-1269)CTG>ATG	p.L423M	MYO6_uc003pig.1_Missense_Mutation_p.L423M|MYO6_uc003pii.1_Missense_Mutation_p.L423M	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	423	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)														---	---	---	---	capture		Missense_Mutation	SNP	76566857	76566857	10476	6	C	A	A	24	24	MYO6	A	2	2
PHIP	55023	broad.mit.edu	37	6	79672829	79672829	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:79672829G>T	uc003pir.2	-	30	3746	c.3520C>A	c.(3520-3522)CAG>AAG	p.Q1174K	PHIP_uc003piq.2_Missense_Mutation_p.Q198K|PHIP_uc011dyp.1_Missense_Mutation_p.Q1173K|PHIP_uc003pio.3_Missense_Mutation_p.Q60K	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1174					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)														---	---	---	---	capture		Missense_Mutation	SNP	79672829	79672829	12266	6	G	T	T	47	47	PHIP	T	2	2
DOPEY1	23033	broad.mit.edu	37	6	83861601	83861601	+	Splice_Site	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83861601G>T	uc003pjs.1	+	29	6165	c.5905_splice	c.e29-1	p.D1969_splice	DOPEY1_uc011dyy.1_Splice_Site_p.D1960_splice|DOPEY1_uc010kbl.1_Splice_Site_p.D1960_splice|DOPEY1_uc003pjt.2_Splice_Site	NM_015018	NP_055833			dopey family member 1						protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---	capture		Splice_Site	SNP	83861601	83861601	4891	6	G	T	T	35	35	DOPEY1	T	5	2
ORC3L	23595	broad.mit.edu	37	6	88362927	88362927	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88362927G>C	uc003pmh.2	+	14	1520	c.1476G>C	c.(1474-1476)AAG>AAC	p.K492N	ORC3L_uc011dzl.1_Missense_Mutation_p.K492N|ORC3L_uc011dzm.1_Missense_Mutation_p.K492N|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.K492N|ORC3L_uc003pmi.2_Missense_Mutation_p.K454N|ORC3L_uc011dzo.1_Missense_Mutation_p.K349N|ORC3L_uc011dzp.1_Missense_Mutation_p.K349N	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3 isoform 2	492					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.0469)														---	---	---	---	capture		Missense_Mutation	SNP	88362927	88362927	11674	6	G	C	C	33	33	ORC3L	C	3	3
MDN1	23195	broad.mit.edu	37	6	90387321	90387321	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90387321G>T	uc003pnn.1	-	76	12623	c.12507C>A	c.(12505-12507)TCC>TCA	p.S4169S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4169					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---	capture		Silent	SNP	90387321	90387321	9804	6	G	T	T	47	47	MDN1	T	2	2
PRDM1	639	broad.mit.edu	37	6	106547368	106547368	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:106547368G>C	uc003prd.2	+	4	839	c.605G>C	c.(604-606)CGG>CCG	p.R202P	PRDM1_uc003pre.2_Missense_Mutation_p.R68P	NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	202	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)				D|N|Mis|F|S		DLBCL								---	---	---	---	capture		Missense_Mutation	SNP	106547368	106547368	12892	6	G	C	C	39	39	PRDM1	C	3	3
PCMT1	5110	broad.mit.edu	37	6	150117553	150117553	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:150117553G>T	uc003qne.2	+	6	628	c.595G>T	c.(595-597)GGG>TGG	p.G199W	PCMT1_uc003qna.2_Missense_Mutation_p.G199W|PCMT1_uc003qnb.2_Missense_Mutation_p.G199W|PCMT1_uc011eeg.1_Missense_Mutation_p.G164W|PCMT1_uc003qnc.2_Missense_Mutation_p.G78W|PCMT1_uc003qnd.2_Missense_Mutation_p.G164W|PCMT1_uc003qnf.2_Missense_Mutation_p.G164W	NM_005389	NP_005380			protein-L-isoaspartate (D-aspartate)											ovary(1)	1		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)														---	---	---	---	capture		Missense_Mutation	SNP	150117553	150117553	12005	6	G	T	T	43	43	PCMT1	T	2	2
SYNE1	23345	broad.mit.edu	37	6	152746534	152746534	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152746534G>T	uc010kiw.2	-	39	5851	c.5249C>A	c.(5248-5250)CCA>CAA	p.P1750Q	SYNE1_uc003qot.3_Missense_Mutation_p.P1757Q|SYNE1_uc003qou.3_Missense_Mutation_p.P1750Q|SYNE1_uc010kjb.1_Missense_Mutation_p.P1733Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1750	Spectrin 2.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---	capture		Missense_Mutation	SNP	152746534	152746534	15966	6	G	T	T	47	47	SYNE1	T	2	2
IGF2R	3482	broad.mit.edu	37	6	160467639	160467639	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160467639C>A	uc003qta.2	+	15	2161	c.2013C>A	c.(2011-2013)CCC>CCA	p.P671P		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	671	5.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)														---	---	---	---	capture		Silent	SNP	160467639	160467639	7877	6	C	A	A	24	24	IGF2R	A	2	2
MAP3K4	4216	broad.mit.edu	37	6	161507647	161507647	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161507647C>T	uc003qtn.2	+	9	2646	c.2504C>T	c.(2503-2505)TCA>TTA	p.S835L	MAP3K4_uc010kkc.1_Missense_Mutation_p.S835L|MAP3K4_uc003qto.2_Missense_Mutation_p.S835L|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.S288L	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	835					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)														---	---	---	---	capture		Missense_Mutation	SNP	161507647	161507647	9635	6	C	T	T	29	29	MAP3K4	T	2	2
TNRC18	84629	broad.mit.edu	37	7	5352184	5352184	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5352184C>A	uc003soi.3	-	27	8687	c.8338G>T	c.(8338-8340)GCC>TCC	p.A2780S		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2780							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)														---	---	---	---	capture		Missense_Mutation	SNP	5352184	5352184	16880	7	C	A	A	27	27	TNRC18	A	1	1
HOXA13	3209	broad.mit.edu	37	7	27237878	27237878	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27237878C>A	uc003szb.1	-	2	1135	c.1106G>T	c.(1105-1107)TGG>TTG	p.W369L	uc003szc.1_5'Flank	NM_000522	NP_000513	P31271	HXA13_HUMAN	homeobox A13	369	Homeobox.				skeletal system development	nucleus	sequence-specific DNA binding			breast(1)	1								T	NUP98	AML								---	---	---	---	capture		Missense_Mutation	SNP	27237878	27237878	7583	7	C	A	A	21	21	HOXA13	A	2	2
CCM2	83605	broad.mit.edu	37	7	45115438	45115438	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45115438G>T	uc003tmo.2	+	10	1263	c.1117G>T	c.(1117-1119)GGC>TGC	p.G373C	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.G315C|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.G282C|CCM2_uc003tms.2_Missense_Mutation_p.G394C	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	373					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0														Familial_Cerebral_Cavernous_Angioma				---	---	---	---	capture		Missense_Mutation	SNP	45115438	45115438	3035	7	G	T	T	47	47	CCM2	T	2	2
CLIP2	7461	broad.mit.edu	37	7	73803542	73803542	+	Silent	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73803542C>T	uc003uam.2	+	13	3000	c.2673C>T	c.(2671-2673)GCC>GCT	p.A891A	CLIP2_uc003uan.2_Silent_p.A856A	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	891	Potential.					microtubule associated complex				skin(3)	3																		---	---	---	---	capture		Silent	SNP	73803542	73803542	3671	7	C	T	T	24	24	CLIP2	T	2	2
GTF2IRD1	9569	broad.mit.edu	37	7	73929890	73929890	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73929890C>T	uc003uaq.2	+	4	778	c.385C>T	c.(385-387)CGG>TGG	p.R129W	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.R161W|GTF2IRD1_uc003uap.2_Missense_Mutation_p.R129W|GTF2IRD1_uc003uar.1_Missense_Mutation_p.R129W	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	129	GTF2I-like 1.					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4																		---	---	---	---	capture		Missense_Mutation	SNP	73929890	73929890	7148	7	C	T	T	27	27	GTF2IRD1	T	1	1
SPDYE5	442590	broad.mit.edu	37	7	75130753	75130753	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75130753G>T	uc011kfy.1	+	5	839	c.703G>T	c.(703-705)GGG>TGG	p.G235W		NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	speedy homolog E5	235											0																		---	---	---	---	capture		Missense_Mutation	SNP	75130753	75130753	15544	7	G	T	T	47	47	SPDYE5	T	2	2
DTX2	113878	broad.mit.edu	37	7	76112361	76112361	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76112361G>C	uc003uff.3	+	5	1361	c.805G>C	c.(805-807)GCA>CCA	p.A269P	DTX2_uc011kgk.1_Missense_Mutation_p.A178P|DTX2_uc003ufg.3_Missense_Mutation_p.A269P|DTX2_uc003ufh.3_Missense_Mutation_p.A269P|DTX2_uc003ufj.3_Missense_Mutation_p.A269P	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	deltex 2 isoform a	269					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	76112361	76112361	4979	7	G	C	C	38	38	DTX2	C	3	3
PHTF2	57157	broad.mit.edu	37	7	77549663	77549663	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77549663G>T	uc003ugs.3	+	9	970	c.844G>T	c.(844-846)GGG>TGG	p.G282W	PHTF2_uc003ugo.3_Missense_Mutation_p.G244W|PHTF2_uc003ugp.2_Missense_Mutation_p.G244W|PHTF2_uc003ugq.3_Missense_Mutation_p.G244W|PHTF2_uc010ldv.2_Missense_Mutation_p.G244W|PHTF2_uc003ugr.3_Missense_Mutation_p.G248W|PHTF2_uc003ugt.3_Missense_Mutation_p.G248W|PHTF2_uc003ugu.3_Missense_Mutation_p.G244W|PHTF2_uc003ugv.2_Missense_Mutation_p.G107W|PHTF2_uc010ldw.1_Missense_Mutation_p.G107W	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	77549663	77549663	12287	7	G	T	T	47	47	PHTF2	T	2	2
HGF	3082	broad.mit.edu	37	7	81388038	81388038	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:81388038C>T	uc003uhl.2	-	3	502	c.337G>A	c.(337-339)GGC>AGC	p.G113S	HGF_uc003uhm.2_Missense_Mutation_p.G113S|HGF_uc003uhn.1_Missense_Mutation_p.G113S|HGF_uc003uho.1_Missense_Mutation_p.G113S|HGF_uc003uhp.2_Missense_Mutation_p.G113S	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	113	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	81388038	81388038	7369	7	C	T	T	21	21	HGF	T	2	2
PCLO	27445	broad.mit.edu	37	7	82585078	82585078	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82585078G>T	uc003uhx.2	-	5	5480	c.5191C>A	c.(5191-5193)CCT>ACT	p.P1731T	PCLO_uc003uhv.2_Missense_Mutation_p.P1731T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1662					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---	capture		Missense_Mutation	SNP	82585078	82585078	12003	7	G	T	T	43	43	PCLO	T	2	2
AKAP9	10142	broad.mit.edu	37	7	91674422	91674422	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:91674422G>T	uc003ulg.2	+	21	5488	c.5263G>T	c.(5263-5265)GGG>TGG	p.G1755W	AKAP9_uc003ulf.2_Missense_Mutation_p.G1755W|AKAP9_uc003uli.2_Missense_Mutation_p.G1380W	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1767					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)					T	BRAF	papillary thyroid								---	---	---	---	capture		Missense_Mutation	SNP	91674422	91674422	462	7	G	T	T	47	47	AKAP9	T	2	2
CASD1	64921	broad.mit.edu	37	7	94178901	94178901	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:94178901A>T	uc003uni.3	+	14	1997	c.1770A>T	c.(1768-1770)AAA>AAT	p.K590N	CASD1_uc003unj.3_Missense_Mutation_p.K590N	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	590						integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)															---	---	---	---	capture		Missense_Mutation	SNP	94178901	94178901	2783	7	A	T	T	3	3	CASD1	T	4	4
LMTK2	22853	broad.mit.edu	37	7	97800947	97800947	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97800947C>T	uc003upd.1	+	7	1045	c.752C>T	c.(751-753)GCG>GTG	p.A251V		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	251	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)																	---	---	---	---	capture		Missense_Mutation	SNP	97800947	97800947	9188	7	C	T	T	27	27	LMTK2	T	1	1
CBLL1	79872	broad.mit.edu	37	7	107399486	107399486	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107399486G>T	uc003veq.2	+	6	1669	c.1339G>T	c.(1339-1341)GGG>TGG	p.G447W	CBLL1_uc011kme.1_Missense_Mutation_p.G326W|CBLL1_uc011kmf.1_Missense_Mutation_p.G446W	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Cas-Br-M (murine) ecotropic retroviral	447	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|skin(2)|lung(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	107399486	107399486	2822	7	G	T	T	35	35	CBLL1	T	2	2
TFEC	22797	broad.mit.edu	37	7	115594691	115594691	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:115594691C>T	uc003vhj.1	-	5	572	c.388G>A	c.(388-390)GAC>AAC	p.D130N	TFEC_uc003vhk.1_Missense_Mutation_p.D101N|TFEC_uc003vhl.3_Missense_Mutation_p.D101N|TFEC_uc011kmw.1_Missense_Mutation_p.D220N	NM_012252	NP_036384	O14948	TFEC_HUMAN	transcription factor EC isoform a	130	Basic motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)	1			STAD - Stomach adenocarcinoma(10;0.00878)															---	---	---	---	capture		Missense_Mutation	SNP	115594691	115594691	16330	7	C	T	T	29	29	TFEC	T	2	2
PAX4	5078	broad.mit.edu	37	7	127255047	127255047	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127255047G>T	uc010lld.1	-	2	429	c.223C>A	c.(223-225)CCT>ACT	p.P75T	PAX4_uc003vmf.2_Missense_Mutation_p.P73T|PAX4_uc003vmg.1_Missense_Mutation_p.P75T|PAX4_uc003vmh.2_Missense_Mutation_p.P73T	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	83	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	127255047	127255047	11901	7	G	T	T	43	43	PAX4	T	2	2
PLXNA4	91584	broad.mit.edu	37	7	131883284	131883284	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131883284C>A	uc003vra.3	-	13	2927	c.2698G>T	c.(2698-2700)GAG>TAG	p.E900*		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	900	IPT/TIG 1.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	131883284	131883284	12548	7	C	A	A	30	30	PLXNA4	A	5	2
TTC26	79989	broad.mit.edu	37	7	138819449	138819449	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138819449G>A	uc003vus.2	+	2	166	c.52G>A	c.(52-54)GAC>AAC	p.D18N	TTC26_uc003vuq.2_Missense_Mutation_p.D18N|TTC26_uc011kqm.1_Missense_Mutation_p.D18N|TTC26_uc003vur.3_Missense_Mutation_p.D18N|TTC26_uc011kqn.1_Missense_Mutation_p.D18N|TTC26_uc011kqo.1_Missense_Mutation_p.D18N|TTC26_uc011kqp.1_5'UTR|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Missense_Mutation_p.D18N	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26 isoform 1	18							binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	138819449	138819449	17248	7	G	A	A	45	45	TTC26	A	2	2
EPHA1	2041	broad.mit.edu	37	7	143091352	143091352	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143091352C>A	uc003wcz.2	-	15	2524	c.2437G>T	c.(2437-2439)GGG>TGG	p.G813W		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	813	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)																---	---	---	---	capture		Missense_Mutation	SNP	143091352	143091352	5358	7	C	A	A	21	21	EPHA1	A	2	2
ACTR3B	57180	broad.mit.edu	37	7	152517413	152517413	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:152517413C>G	uc003wle.1	+	7	687	c.570C>G	c.(568-570)ATC>ATG	p.I190M	ACTR3B_uc003wlf.1_Missense_Mutation_p.I190M|ACTR3B_uc003wlg.1_Missense_Mutation_p.I102M|ACTR3B_uc011kvp.1_Missense_Mutation_p.I102M	NM_020445	NP_065178	Q9P1U1	ARP3B_HUMAN	actin-related protein 3-beta isoform 1	190					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding				0		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)														---	---	---	---	capture		Missense_Mutation	SNP	152517413	152517413	214	7	C	G	G	29	29	ACTR3B	G	3	3
CSMD1	64478	broad.mit.edu	37	8	3216692	3216692	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3216692G>T	uc011kwk.1	-	21	3679	c.3289C>A	c.(3289-3291)CCT>ACT	p.P1097T	CSMD1_uc011kwj.1_Missense_Mutation_p.P489T|CSMD1_uc003wqe.2_Missense_Mutation_p.P253T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1097	Sushi 6.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---	capture		Missense_Mutation	SNP	3216692	3216692	4085	8	G	T	T	44	44	CSMD1	T	2	2
CSMD1	64478	broad.mit.edu	37	8	3889546	3889546	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3889546C>G	uc011kwk.1	-	4	881	c.491G>C	c.(490-492)GGA>GCA	p.G164A		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	164	Extracellular (Potential).|Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---	capture		Missense_Mutation	SNP	3889546	3889546	4085	8	C	G	G	30	30	CSMD1	G	3	3
LETM2	137994	broad.mit.edu	37	8	38257911	38257911	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38257911C>A	uc003xlm.1	+	5	797	c.626C>A	c.(625-627)TCA>TAA	p.S209*	LETM2_uc011lbn.1_Nonsense_Mutation_p.S53*|LETM2_uc003xll.1_Nonsense_Mutation_p.S161*|LETM2_uc003xln.1_Nonsense_Mutation_p.S53*|LETM2_uc003xlo.1_Nonsense_Mutation_p.S53*	NM_144652	NP_653253	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane	256	LETM1.|Mitochondrial matrix (Potential).					integral to membrane|mitochondrial inner membrane					0	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)															---	---	---	---	capture		Nonsense_Mutation	SNP	38257911	38257911	9059	8	C	A	A	29	29	LETM2	A	5	2
FGFR1	2260	broad.mit.edu	37	8	38275764	38275764	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38275764C>A	uc003xlp.2	-	11	2354	c.1412G>T	c.(1411-1413)TGG>TTG	p.W471L	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.W469L|FGFR1_uc011lbp.1_Missense_Mutation_p.W382L|FGFR1_uc011lbq.1_Missense_Mutation_p.W380L|FGFR1_uc010lwk.2_Missense_Mutation_p.W461L	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	471	Cytoplasmic (Potential).				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						---	---	---	---	capture		Missense_Mutation	SNP	38275764	38275764	6100	8	C	A	A	21	21	FGFR1	A	2	2
NSMAF	8439	broad.mit.edu	37	8	59514692	59514692	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59514692C>A	uc003xtt.2	-	14	1264	c.1050G>T	c.(1048-1050)TTG>TTT	p.L350F	NSMAF_uc011lee.1_Missense_Mutation_p.L381F|NSMAF_uc003xtu.2_Missense_Mutation_p.L350F	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	350	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)																---	---	---	---	capture		Missense_Mutation	SNP	59514692	59514692	11079	8	C	A	A	17	17	NSMAF	A	2	2
C8orf34	116328	broad.mit.edu	37	8	69688634	69688634	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69688634G>T	uc010lyz.2	+	11	1196	c.1147G>T	c.(1147-1149)GGA>TGA	p.G383*	C8orf34_uc003xyb.2_Nonsense_Mutation_p.G358*	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	383					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)															---	---	---	---	capture		Nonsense_Mutation	SNP	69688634	69688634	2532	8	G	T	T	43	43	C8orf34	T	5	2
KCNB2	9312	broad.mit.edu	37	8	73849877	73849877	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73849877C>A	uc003xzb.2	+	3	2875	c.2287C>A	c.(2287-2289)CAG>AAG	p.Q763K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	763	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---	capture		Missense_Mutation	SNP	73849877	73849877	8318	8	C	A	A	21	21	KCNB2	A	2	2
CNGB3	54714	broad.mit.edu	37	8	87660080	87660080	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87660080G>T	uc003ydx.2	-	8	985	c.939C>A	c.(937-939)TGC>TGA	p.C313*	CNGB3_uc010maj.2_Nonsense_Mutation_p.C175*	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	313	Helical; Name=H3; (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	87660080	87660080	3739	8	G	T	T	34	34	CNGB3	T	5	2
SLC26A7	115111	broad.mit.edu	37	8	92330528	92330528	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:92330528A>G	uc003yex.2	+	6	840	c.562A>G	c.(562-564)ACC>GCC	p.T188A	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.T188A|SLC26A7_uc003yfa.2_Missense_Mutation_p.T188A	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	188	Extracellular (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)															---	---	---	---	capture		Missense_Mutation	SNP	92330528	92330528	15019	8	A	G	G	6	6	SLC26A7	G	4	4
ESRP1	54845	broad.mit.edu	37	8	95680306	95680306	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95680306G>T	uc003ygq.3	+	10	1244	c.1061G>T	c.(1060-1062)GGG>GTG	p.G354V	ESRP1_uc003ygr.3_Missense_Mutation_p.G354V|ESRP1_uc003ygs.3_Missense_Mutation_p.G354V|ESRP1_uc003ygt.3_Missense_Mutation_p.G354V|ESRP1_uc003ygu.3_Missense_Mutation_p.G354V|ESRP1_uc003ygv.2_Missense_Mutation_p.G194V|ESRP1_uc003ygw.2_Missense_Mutation_p.G194V	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	354	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4																		---	---	---	---	capture		Missense_Mutation	SNP	95680306	95680306	5451	8	G	T	T	43	43	ESRP1	T	2	2
LRP12	29967	broad.mit.edu	37	8	105509802	105509802	+	Missense_Mutation	SNP	G	C	C	rs138841847		TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105509802G>C	uc003yma.2	-	5	1073	c.978C>G	c.(976-978)CAC>CAG	p.H326Q	LRP12_uc003ymb.2_Missense_Mutation_p.H307Q|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	326	Extracellular (Potential).|CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---	capture		Missense_Mutation	SNP	105509802	105509802	9327	8	G	C	C	48	48	LRP12	C	3	3
PKHD1L1	93035	broad.mit.edu	37	8	110442258	110442258	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110442258C>A	uc003yne.2	+	27	3325	c.3221C>A	c.(3220-3222)CCT>CAT	p.P1074H		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1074	Extracellular (Potential).|IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)												HNSCC(38;0.096)			---	---	---	---	capture		Missense_Mutation	SNP	110442258	110442258	12397	8	C	A	A	24	24	PKHD1L1	A	2	2
CSMD3	114788	broad.mit.edu	37	8	113237101	113237101	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113237101C>T	uc003ynu.2	-	71	11182	c.11023G>A	c.(11023-11025)GCA>ACA	p.A3675T	CSMD3_uc003yns.2_Missense_Mutation_p.A2877T|CSMD3_uc003ynt.2_Missense_Mutation_p.A3635T|CSMD3_uc011lhx.1_Missense_Mutation_p.A3506T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3675	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---	capture		Missense_Mutation	SNP	113237101	113237101	4087	8	C	T	T	28	28	CSMD3	T	2	2
HAS2	3037	broad.mit.edu	37	8	122641246	122641246	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:122641246G>T	uc003yph.2	-	2	873	c.335C>A	c.(334-336)CCT>CAT	p.P112H		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	112	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---	capture		Missense_Mutation	SNP	122641246	122641246	7244	8	G	T	T	35	35	HAS2	T	2	2
FAM135B	51059	broad.mit.edu	37	8	139153478	139153478	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139153478C>A	uc003yuy.2	-	17	3924	c.3753G>T	c.(3751-3753)CTG>CTT	p.L1251L	FAM135B_uc003yux.2_Silent_p.L1152L|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1251										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)												HNSCC(54;0.14)			---	---	---	---	capture		Silent	SNP	139153478	139153478	5646	8	C	A	A	21	21	FAM135B	A	2	2
COL22A1	169044	broad.mit.edu	37	8	139611024	139611024	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139611024C>A	uc003yvd.2	-	61	4750	c.4303G>T	c.(4303-4305)GGG>TGG	p.G1435W	COL22A1_uc011ljo.1_Missense_Mutation_p.G715W	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1435	Pro-rich.|Gly-rich.|Collagen-like 14.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)												HNSCC(7;0.00092)			---	---	---	---	capture		Missense_Mutation	SNP	139611024	139611024	3819	8	C	A	A	21	21	COL22A1	A	2	2
PLEC	5339	broad.mit.edu	37	8	144998324	144998324	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144998324C>A	uc003zaf.1	-	31	6354	c.6184G>T	c.(6184-6186)GAG>TAG	p.E2062*	PLEC_uc003zab.1_Nonsense_Mutation_p.E1925*|PLEC_uc003zac.1_Nonsense_Mutation_p.E1929*|PLEC_uc003zad.2_Nonsense_Mutation_p.E1925*|PLEC_uc003zae.1_Nonsense_Mutation_p.E1893*|PLEC_uc003zag.1_Nonsense_Mutation_p.E1903*|PLEC_uc003zah.2_Nonsense_Mutation_p.E1911*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E1952*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2062	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---	capture		Nonsense_Mutation	SNP	144998324	144998324	12478	8	C	A	A	30	30	PLEC	A	5	2
SLC39A4	55630	broad.mit.edu	37	8	145638176	145638176	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145638176G>A	uc003zcq.2	-	11	1882	c.1782C>T	c.(1780-1782)ACC>ACT	p.T594T	SLC39A4_uc003zcm.1_Silent_p.T96T|SLC39A4_uc003zcn.2_Silent_p.T96T|SLC39A4_uc003zco.2_Silent_p.T318T|SLC39A4_uc003zcp.2_Silent_p.T569T	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	594	Helical; Name=5; (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)															---	---	---	---	capture		Silent	SNP	145638176	145638176	15117	8	G	A	A	39	39	SLC39A4	A	1	1
IFNA6	3443	broad.mit.edu	37	9	21350809	21350809	+	Silent	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21350809C>T	uc011lni.1	-	1	78	c.78G>A	c.(76-78)CTG>CTA	p.L26L		NM_021002	NP_066282	P05013	IFNA6_HUMAN	interferon, alpha 6 precursor	26					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)														---	---	---	---	capture		Silent	SNP	21350809	21350809	7842	9	C	T	T	25	25	IFNA6	T	2	2
LINGO2	158038	broad.mit.edu	37	9	27949203	27949203	+	Silent	SNP	A	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27949203A>T	uc003zqu.1	-	2	1661	c.1467T>A	c.(1465-1467)GCT>GCA	p.A489A	LINGO2_uc010mjf.1_Silent_p.A489A|LINGO2_uc003zqv.1_Silent_p.A489A	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	489	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)														---	---	---	---	capture		Silent	SNP	27949203	27949203	9142	9	A	T	T	7	7	LINGO2	T	4	4
ACO1	48	broad.mit.edu	37	9	32448965	32448965	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32448965C>G	uc003zqw.3	+	20	2597	c.2442C>G	c.(2440-2442)ATC>ATG	p.I814M	ACO1_uc003zqx.3_Missense_Mutation_p.I814M|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	814					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)														---	---	---	---	capture		Missense_Mutation	SNP	32448965	32448965	147	9	C	G	G	30	30	ACO1	G	3	3
FAM166B	730112	broad.mit.edu	37	9	35563230	35563230	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35563230G>T	uc010mkr.2	-	2	290	c.219C>A	c.(217-219)CCC>CCA	p.P73P	FAM166B_uc011lov.1_Silent_p.P73P|FAM166B_uc011low.1_Silent_p.P73P|FAM166B_uc003zwy.2_Silent_p.P73P	NM_001164310	NP_001157782	A8MTA8	F166B_HUMAN	hypothetical protein LOC730112 isoform 1	73											0																		---	---	---	---	capture		Silent	SNP	35563230	35563230	5686	9	G	T	T	47	47	FAM166B	T	2	2
DCAF10	79269	broad.mit.edu	37	9	37861493	37861493	+	Silent	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37861493G>A	uc004aao.2	+	7	1742	c.1668G>A	c.(1666-1668)CAG>CAA	p.Q556Q	DCAF10_uc010mlz.2_Silent_p.Q383Q|DCAF10_uc004aap.2_Silent_p.Q207Q	NM_024345	NP_077321	Q5QP82	DCA10_HUMAN	WD repeat domain 32	556	WD 7.					CUL4 RING ubiquitin ligase complex				central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	37861493	37861493	4432	9	G	A	A	34	34	DCAF10	A	2	2
TRPM3	80036	broad.mit.edu	37	9	73225606	73225606	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:73225606C>A	uc004aid.2	-	18	2794	c.2550G>T	c.(2548-2550)CAG>CAT	p.Q850H	TRPM3_uc004ahu.2_Missense_Mutation_p.Q680H|TRPM3_uc004ahv.2_Missense_Mutation_p.Q652H|TRPM3_uc004ahw.2_Missense_Mutation_p.Q722H|TRPM3_uc004ahx.2_Missense_Mutation_p.Q709H|TRPM3_uc004ahy.2_Missense_Mutation_p.Q712H|TRPM3_uc004ahz.2_Missense_Mutation_p.Q699H|TRPM3_uc004aia.2_Missense_Mutation_p.Q697H|TRPM3_uc004aib.2_Missense_Mutation_p.Q687H|TRPM3_uc004aic.2_Missense_Mutation_p.Q850H	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	875	Extracellular (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9																		---	---	---	---	capture		Missense_Mutation	SNP	73225606	73225606	17138	9	C	A	A	32	32	TRPM3	A	2	2
PRUNE2	158471	broad.mit.edu	37	9	79322116	79322116	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79322116C>A	uc010mpk.2	-	8	5198	c.5074G>T	c.(5074-5076)GTC>TTC	p.V1692F		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1692					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	79322116	79322116	13092	9	C	A	A	17	17	PRUNE2	A	2	2
TLE4	7091	broad.mit.edu	37	9	82320816	82320816	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82320816G>T	uc004ald.2	+	10	1570	c.721G>T	c.(721-723)GAG>TAG	p.E241*	TLE4_uc004alc.2_Nonsense_Mutation_p.E248*|TLE4_uc010mpr.2_Nonsense_Mutation_p.E127*|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Nonsense_Mutation_p.E216*|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Nonsense_Mutation_p.E187*	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5																		---	---	---	---	capture		Nonsense_Mutation	SNP	82320816	82320816	16471	9	G	T	T	45	45	TLE4	T	5	2
COL15A1	1306	broad.mit.edu	37	9	101810117	101810117	+	Missense_Mutation	SNP	G	T	T	rs138040776		TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101810117G>T	uc004azb.1	+	27	2935	c.2729G>T	c.(2728-2730)CGA>CTA	p.R910L		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	910	Triple-helical region 5 (COL5).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)																---	---	---	---	capture		Missense_Mutation	SNP	101810117	101810117	3810	9	G	T	T	37	37	COL15A1	T	1	1
EPB41L4B	54566	broad.mit.edu	37	9	111938886	111938886	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111938886C>T	uc004bdz.1	-	25	2873	c.2578G>A	c.(2578-2580)GTC>ATC	p.V860I		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	860						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	111938886	111938886	5349	9	C	T	T	19	19	EPB41L4B	T	1	1
ZNF883	169834	broad.mit.edu	37	9	115760433	115760433	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115760433A>G	uc011lwy.1	-	5	1346	c.107T>C	c.(106-108)ATT>ACT	p.I36T		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	hypothetical protein LOC169834	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	115760433	115760433	18802	9	A	G	G	4	4	ZNF883	G	4	4
AKNA	80709	broad.mit.edu	37	9	117120298	117120298	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117120298G>A	uc004biq.3	-	11	2777	c.2642C>T	c.(2641-2643)GCA>GTA	p.A881V	AKNA_uc004bin.3_Missense_Mutation_p.A128V|AKNA_uc004bio.3_Missense_Mutation_p.A341V|AKNA_uc004bip.3_Missense_Mutation_p.A800V|AKNA_uc004bir.3_Missense_Mutation_p.A881V|AKNA_uc004bis.3_Missense_Mutation_p.A881V|AKNA_uc010mve.2_Missense_Mutation_p.A762V	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	881					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---	capture		Missense_Mutation	SNP	117120298	117120298	466	9	G	A	A	46	46	AKNA	A	2	2
C9orf119	375757	broad.mit.edu	37	9	131046897	131046897	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131046897C>A	uc004bup.2	+	3	535	c.535C>A	c.(535-537)CAG>AAG	p.Q179K	C9orf119_uc010mxx.1_Missense_Mutation_p.Q179K	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	hypothetical protein LOC375757	179	Potential.				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	131046897	131046897	2565	9	C	A	A	21	21	C9orf119	A	2	2
COL5A1	1289	broad.mit.edu	37	9	137714873	137714873	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137714873C>A	uc004cfe.2	+	60	5020	c.4638C>A	c.(4636-4638)GGC>GGA	p.G1546G	uc004cff.2_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1546	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)														---	---	---	---	capture		Silent	SNP	137714873	137714873	3834	9	C	A	A	28	28	COL5A1	A	2	2
KAL1	3730	broad.mit.edu	37	X	8503661	8503661	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:8503661T>A	uc004csf.2	-	12	1963	c.1813A>T	c.(1813-1815)ATT>TTT	p.I605F		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	605	Fibronectin type-III 4.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	8503661	8503661	8278	23	T	A	A	51	51	KAL1	A	4	4
GEMIN8	54960	broad.mit.edu	37	X	14027118	14027118	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:14027118T>C	uc004cwb.2	-	5	986	c.643A>G	c.(643-645)ATG>GTG	p.M215V	GEMIN8_uc004cwc.2_Missense_Mutation_p.M215V|GEMIN8_uc004cwd.2_Missense_Mutation_p.M215V	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	215					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	14027118	14027118	6602	23	T	C	C	51	51	GEMIN8	C	4	4
BEND2	139105	broad.mit.edu	37	X	18189144	18189144	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18189144G>T	uc004cyj.3	-	13	2316	c.2162C>A	c.(2161-2163)CCC>CAC	p.P721H	BEND2_uc010nfb.2_Missense_Mutation_p.P630H	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	721	BEN 2.									ovary(3)|kidney(1)|central_nervous_system(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	18189144	18189144	1421	23	G	T	T	43	43	BEND2	T	2	2
GPR64	10149	broad.mit.edu	37	X	19021038	19021038	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:19021038A>G	uc004cyx.2	-	24	2320	c.2156T>C	c.(2155-2157)ATG>ACG	p.M719T	GPR64_uc004cyy.2_Missense_Mutation_p.M716T|GPR64_uc004cyz.2_Missense_Mutation_p.M705T|GPR64_uc004czb.2_Missense_Mutation_p.M719T|GPR64_uc004czc.2_Missense_Mutation_p.M703T|GPR64_uc004czd.2_Missense_Mutation_p.M695T|GPR64_uc004cze.2_Missense_Mutation_p.M689T|GPR64_uc004czf.2_Missense_Mutation_p.M681T|GPR64_uc004cza.2_Missense_Mutation_p.M697T|GPR64_uc004cyw.2_Missense_Mutation_p.M703T|GPR64_uc010nfj.2_Missense_Mutation_p.M600T	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	719	Cytoplasmic (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)																	---	---	---	---	capture		Missense_Mutation	SNP	19021038	19021038	6980	23	A	G	G	8	8	GPR64	G	4	4
PPP1R3F	89801	broad.mit.edu	37	X	49143531	49143531	+	Silent	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49143531C>G	uc004dnh.1	+	4	2395	c.2379C>G	c.(2377-2379)CTC>CTG	p.L793L	PPP1R3F_uc011mnd.1_Silent_p.L464L|PPP1R3F_uc004dni.2_Silent_p.L447L|PPP1R3F_uc004dnj.1_Silent_p.L447L	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	793	Cytoplasmic (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)																	---	---	---	---	capture		Silent	SNP	49143531	49143531	12810	23	C	G	G	32	32	PPP1R3F	G	3	3
UBQLN2	29978	broad.mit.edu	37	X	56591546	56591546	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:56591546C>T	uc004dus.2	+	1	1475	c.1240C>T	c.(1240-1242)CCG>TCG	p.P414S	UBQLN2_uc011moq.1_Missense_Mutation_p.P414S	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	414						cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	56591546	56591546	17455	23	C	T	T	22	22	UBQLN2	T	2	2
MAGEE1	57692	broad.mit.edu	37	X	75649174	75649174	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:75649174T>C	uc004ecm.1	+	1	1058	c.851T>C	c.(850-852)TTG>TCG	p.L284S		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	284	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	75649174	75649174	9568	23	T	C	C	63	63	MAGEE1	C	4	4
APOOL	139322	broad.mit.edu	37	X	84329345	84329345	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:84329345C>A	uc004eem.2	+	8	680	c.666C>A	c.(664-666)CCC>CCA	p.P222P	APOOL_uc010nmp.2_Intron	NM_198450	NP_940852	Q6UXV4	APOOL_HUMAN	apolipoprotein O-like precursor	222						extracellular region					0																		---	---	---	---	capture		Silent	SNP	84329345	84329345	825	23	C	A	A	24	24	APOOL	A	2	2
NAP1L3	4675	broad.mit.edu	37	X	92927345	92927345	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:92927345T>A	uc004efq.2	-	1	1264	c.959A>T	c.(958-960)AAG>ATG	p.K320M	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	320					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	92927345	92927345	10554	23	T	A	A	56	56	NAP1L3	A	4	4
MCART6	401612	broad.mit.edu	37	X	103349486	103349486	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:103349486G>T	uc004elu.2	-	2	636	c.455C>A	c.(454-456)CCC>CAC	p.P152H		NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	mitochondrial carrier triple repeat 6	152	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	103349486	103349486	9760	23	G	T	T	43	43	MCART6	T	2	2
NRK	203447	broad.mit.edu	37	X	105075047	105075047	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105075047G>A	uc004emd.2	+	2	361	c.58G>A	c.(58-60)GAT>AAT	p.D20N	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	20							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14															HNSCC(51;0.14)			---	---	---	---	capture		Missense_Mutation	SNP	105075047	105075047	11060	23	G	A	A	41	41	NRK	A	2	2
GRIA3	2892	broad.mit.edu	37	X	122551402	122551402	+	Silent	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122551402C>A	uc004etq.3	+	12	1943	c.1650C>A	c.(1648-1650)CCC>CCA	p.P550P	GRIA3_uc004etr.3_Silent_p.P550P|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.P534P	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	550	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)													---	---	---	---	capture		Silent	SNP	122551402	122551402	7047	23	C	A	A	22	22	GRIA3	A	2	2
XPNPEP2	7512	broad.mit.edu	37	X	128902323	128902323	+	Silent	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128902323G>T	uc004eut.1	+	21	2131	c.1887G>T	c.(1885-1887)CTG>CTT	p.L629L		NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	629					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0																		---	---	---	---	capture		Silent	SNP	128902323	128902323	18026	23	G	T	T	46	46	XPNPEP2	T	2	2
CXorf66	347487	broad.mit.edu	37	X	139038193	139038193	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:139038193C>A	uc004fbb.2	-	3	970	c.948G>T	c.(946-948)AGG>AGT	p.R316S		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	hypothetical protein LOC347487 precursor	316	Cytoplasmic (Potential).					integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	139038193	139038193	4283	23	C	A	A	30	30	CXorf66	A	2	2
MAGEC1	9947	broad.mit.edu	37	X	140995703	140995703	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140995703C>G	uc004fbt.2	+	4	2799	c.2513C>G	c.(2512-2514)ACT>AGT	p.T838S	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	838							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)														HNSCC(15;0.026)			---	---	---	---	capture		Missense_Mutation	SNP	140995703	140995703	9561	23	C	G	G	20	20	MAGEC1	G	3	3
GPR50	9248	broad.mit.edu	37	X	150349417	150349417	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150349417G>T	uc010ntg.1	+	2	1497	c.1362G>T	c.(1360-1362)AAG>AAT	p.K454N		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	454	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	150349417	150349417	6972	23	G	T	T	35	35	GPR50	T	2	2
BGN	633	broad.mit.edu	37	X	152773715	152773715	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152773715C>G	uc004fhr.1	+	8	1091	c.919C>G	c.(919-921)CTG>GTG	p.L307V	BGN_uc004fhq.1_RNA	NM_001711	NP_001702	P21810	PGS1_HUMAN	biglycan preproprotein	307	LRR 10.					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	152773715	152773715	1442	23	C	G	G	32	32	BGN	G	3	3
USP9Y	8287	broad.mit.edu	37	Y	14888737	14888737	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3419-01	TCGA-18-3419-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:14888737A>G	uc004fst.1	+	19	3527	c.2582A>G	c.(2581-2583)TAC>TGC	p.Y861C	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	861					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	14888737	14888737	17655	24	A	G	G	14	14	USP9Y	G	4	4
