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
NADSYN1	55191	broad.mit.edu	37	11	71194032	71194033	+	Missense_Mutation	DNP	CG	AT	AT	rs149234649		TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71194032_71194033CG>AT	uc001oqn.2	+	14	1414_1415	c.1288_1289CG>AT	c.(1288-1290)CGG>ATG	p.R430M	NADSYN1_uc001oqo.2_Missense_Mutation_p.R170M|NADSYN1_uc001oqp.2_Missense_Mutation_p.R59M	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	430	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---	capture		Missense_Mutation	DNP	71194032	71194033	10534	11	CG	AT	AT	23	23	NADSYN1	AT	1	1
SSTR3	6753	broad.mit.edu	37	22	37603527	37603528	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37603527_37603528GG>TT	uc003ara.2	-	2	377_378	c.315_316CC>AA	c.(313-318)GCCCTG>GCAATG	p.L106M	SSTR3_uc003arb.2_Missense_Mutation_p.L106M	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	106	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1																		---	---	---	---	capture		Missense_Mutation	DNP	37603527	37603528	15715	22	GG	TT	TT	35	35	SSTR3	TT	2	2
RANBP17	64901	broad.mit.edu	37	5	170380642	170380643	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170380642_170380643GG>TT	uc003mba.2	+	13	1526_1527	c.1510_1511GG>TT	c.(1510-1512)GGA>TTA	p.G504L	RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	504					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	DNP	170380642	170380643	13487	5	GG	TT	TT	35	35	RANBP17	TT	2	2
DNAH8	1769	broad.mit.edu	37	6	38851775	38851776	+	Splice_Site	DNP	GT	TA	TA			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38851775_38851776GT>TA	uc003ooe.1	+	54	8208	c.7608_splice	c.e54+1	p.Q2536_splice		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---	capture		Splice_Site	DNP	38851775	38851776	4790	6	GT	TA	TA	44	44	DNAH8	TA	5	2
AGAP3	116988	broad.mit.edu	37	7	150840947	150840948	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150840947_150840948GG>TT	uc003wjg.1	+	18	2656_2657	c.2653_2654GG>TT	c.(2653-2655)GGC>TTC	p.G885F	AGAP3_uc003wje.1_Missense_Mutation_p.G554F|AGAP3_uc003wjj.1_Missense_Mutation_p.G384F|AGAP3_uc003wjk.1_Missense_Mutation_p.G303F	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	849					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	DNP	150840947	150840948	371	7	GG	TT	TT	47	47	AGAP3	TT	2	2
FANCG	2189	broad.mit.edu	37	9	35079502	35079503	+	Missense_Mutation	DNP	GA	AT	AT	rs35984312	byFrequency;by1000genomes	TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35079502_35079503GA>AT	uc003zwb.1	-	1	511_512	c.19_20TC>AT	c.(19-21)TCT>ATT	p.S7I	FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.S7I	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	7					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)					Mis|N|F|S			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---	capture		Missense_Mutation	DNP	35079502	35079503	5904	9	GA	AT	AT	33	33	FANCG	AT	2	2
DTX3	196403	broad.mit.edu	37	12	58001040	58001040	+	Frame_Shift_Del	DEL	C	-	-			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58001040delC	uc001sow.1	+	5	731	c.394delC	c.(394-396)CCCfs	p.P132fs	DTX3_uc001sov.1_Frame_Shift_Del_p.P125fs|DTX3_uc001sox.1_Frame_Shift_Del_p.P125fs|DTX3_uc001soy.1_Frame_Shift_Del_p.P125fs|GEFT_uc009zpy.2_5'Flank	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	deltex homolog 3	132	Pro-rich.				Notch signaling pathway	cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)	2	Melanoma(17;0.122)																	---	---	---	---	capture_indel		Frame_Shift_Del	DEL	58001040	58001040	4980	12	C	-	-	26	26	DTX3	-	5	5
PHF11	51131	broad.mit.edu	37	13	50102723	50102723	+	Frame_Shift_Del	DEL	A	-	-			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:50102723delA	uc001vdb.2	+	10	1255	c.918delA	c.(916-918)TTAfs	p.L306fs	PHF11_uc001vdc.2_Frame_Shift_Del_p.L267fs|PHF11_uc001vdd.2_RNA	NM_001040443	NP_001035533	Q9UIL8	PHF11_HUMAN	PHD finger protein 11 isoform a	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding				0		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)														---	---	---	---	capture_indel		Frame_Shift_Del	DEL	50102723	50102723	12245	13	A	-	-	13	13	PHF11	-	5	5
OXGR1	27199	broad.mit.edu	37	13	97639814	97639815	+	Frame_Shift_Ins	INS	-	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:97639814_97639815insT	uc001vmx.1	-	4	443_444	c.199_200insA	c.(199-201)AGCfs	p.S67fs	OXGR1_uc010afr.1_Frame_Shift_Ins_p.S67fs	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	67	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)															---	---	---	---	capture_indel		Frame_Shift_Ins	INS	97639814	97639815	11745	13	-	T	T	28	28	OXGR1	T	5	5
CCDC57	284001	broad.mit.edu	37	17	80091962	80091963	+	Frame_Shift_Ins	INS	-	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80091962_80091963insA	uc002kdy.2	-	2	162_163	c.148_149insT	c.(148-150)CATfs	p.H50fs	CCDC57_uc002kdx.1_Intron			Q2TAC2	CCD57_HUMAN	SubName: Full=cDNA FLJ23754 fis, clone HEP17288;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)															---	---	---	---	capture_indel		Frame_Shift_Ins	INS	80091962	80091963	2950	17	-	A	A	51	51	CCDC57	A	5	5
SELT	51714	broad.mit.edu	37	3	150340184	150340184	+	Frame_Shift_Del	DEL	T	-	-			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150340184delT	uc011bnx.1	+	3	234	c.150delT	c.(148-150)GGTfs	p.G50fs		NM_016275	NP_057359	P62341	SELT_HUMAN	selenoprotein T precursor	50					cell redox homeostasis|selenocysteine incorporation		selenium binding				0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)															---	---	---	---	capture_indel		Frame_Shift_Del	DEL	150340184	150340184	14508	3	T	-	-	60	60	SELT	-	5	5
RASA1	5921	broad.mit.edu	37	5	86679568	86679570	+	In_Frame_Del	DEL	TGA	-	-			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:86679568_86679570delTGA	uc003kiw.2	+	21	2847_2849	c.2729_2731delTGA	c.(2728-2733)CTGAAT>CAT	p.910_911LN>H	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_In_Frame_Del_p.733_734LN>H|RASA1_uc011ctv.1_In_Frame_Del_p.743_744LN>H|RASA1_uc011ctw.1_In_Frame_Del_p.744_745LN>H|RASA1_uc010jaw.2_In_Frame_Del_p.732_733LN>H	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	910_911	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)														---	---	---	---	capture_indel		In_Frame_Del	DEL	86679568	86679570	13520	5	TGA	-	-	55	55	RASA1	-	5	5
PSORS1C1	170679	broad.mit.edu	37	6	31107683	31107683	+	Frame_Shift_Del	DEL	C	-	-			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31107683delC	uc003nsl.1	+	6	707	c.433delC	c.(433-435)CCTfs	p.P145fs	PSORS1C1_uc010jsj.1_Frame_Shift_Del_p.P94fs|PSORS1C1_uc003nsn.1_RNA|PSORS1C2_uc003nso.3_5'Flank	NM_014068	NP_054787	Q9UIG5	PS1C1_HUMAN	SEEK1 protein	145										ovary(1)	1																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	31107683	31107683	13168	6	C	-	-	30	30	PSORS1C1	-	5	5
ACAP3	116983	broad.mit.edu	37	1	1233244	1233244	+	Silent	SNP	G	A	A	rs144855997		TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1233244G>A	uc001aeb.2	-	14	1160	c.1086C>T	c.(1084-1086)ATC>ATT	p.I362I	ACAP3_uc001ady.2_Silent_p.I92I|ACAP3_uc001aea.2_Silent_p.I320I	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH	362	PH.				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	1233244	1233244	121	1	G	A	A	37	37	ACAP3	A	1	1
TAS1R1	80835	broad.mit.edu	37	1	6636575	6636575	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6636575G>T	uc001ant.2	+	4	1361	c.1361G>T	c.(1360-1362)TGG>TTG	p.W454L	TAS1R1_uc001anu.2_Missense_Mutation_p.W200L|TAS1R1_uc001anv.2_Missense_Mutation_p.W200L|TAS1R1_uc001anw.2_Intron	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	454	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	6636575	6636575	16084	1	G	T	T	47	47	TAS1R1	T	2	2
KIAA0090	23065	broad.mit.edu	37	1	19570159	19570159	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19570159C>A	uc001bbo.2	-	4	372	c.329G>T	c.(328-330)TGG>TTG	p.W110L	KIAA0090_uc001bbp.2_Missense_Mutation_p.W110L|KIAA0090_uc001bbq.2_Missense_Mutation_p.W110L|KIAA0090_uc001bbr.2_Missense_Mutation_p.W88L	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	110	Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)														---	---	---	---	capture		Missense_Mutation	SNP	19570159	19570159	8460	1	C	A	A	21	21	KIAA0090	A	2	2
RPS6KA1	6195	broad.mit.edu	37	1	26881194	26881194	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26881194C>A	uc001bmr.1	+	9	884	c.721C>A	c.(721-723)CAT>AAT	p.H241N	RPS6KA1_uc010ofe.1_Missense_Mutation_p.H149N|RPS6KA1_uc010off.1_Missense_Mutation_p.H225N|RPS6KA1_uc001bms.1_Missense_Mutation_p.H250N|RPS6KA1_uc009vsl.1_Missense_Mutation_p.H84N	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	241	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)														---	---	---	---	capture		Missense_Mutation	SNP	26881194	26881194	14130	1	C	A	A	21	21	RPS6KA1	A	2	2
ZSCAN20	7579	broad.mit.edu	37	1	33960921	33960921	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33960921G>T	uc001bxj.3	+	8	3144	c.2977G>T	c.(2977-2979)GGG>TGG	p.G993W	ZSCAN20_uc009vui.2_Missense_Mutation_p.G992W	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	993	C2H2-type 9.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)																---	---	---	---	capture		Missense_Mutation	SNP	33960921	33960921	18836	1	G	T	T	47	47	ZSCAN20	T	2	2
CSMD2	114784	broad.mit.edu	37	1	34052159	34052159	+	Silent	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34052159C>G	uc001bxn.1	-	47	7031	c.7002G>C	c.(7000-7002)CTG>CTC	p.L2334L	CSMD2_uc001bxm.1_Silent_p.L2332L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2334	Sushi 13.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)																---	---	---	---	capture		Silent	SNP	34052159	34052159	4086	1	C	G	G	29	29	CSMD2	G	3	3
EPHA10	284656	broad.mit.edu	37	1	38187350	38187350	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38187350C>A	uc009vvi.2	-	11	2214	c.2128G>T	c.(2128-2130)GAG>TAG	p.E710*	EPHA10_uc001cbt.2_5'Flank|EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	710	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.L710M(1)		breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---	capture		Nonsense_Mutation	SNP	38187350	38187350	5359	1	C	A	A	30	30	EPHA10	A	5	2
ZNF684	127396	broad.mit.edu	37	1	41006273	41006273	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:41006273C>A	uc001cft.1	+	3	282	c.31C>A	c.(31-33)CAG>AAG	p.Q11K		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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;5.42e-18)															---	---	---	---	capture		Missense_Mutation	SNP	41006273	41006273	18686	1	C	A	A	21	21	ZNF684	A	2	2
EPS15	2060	broad.mit.edu	37	1	51871588	51871588	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:51871588G>T	uc001csq.1	-	16	1758	c.1666C>A	c.(1666-1668)CAG>AAG	p.Q556K	EPS15_uc009vyz.1_Intron|EPS15_uc001csp.3_Missense_Mutation_p.Q242K	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway	556					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			lung(1)|kidney(1)	2								T	MLL	ALL								---	---	---	---	capture		Missense_Mutation	SNP	51871588	51871588	5385	1	G	T	T	47	47	EPS15	T	2	2
PARS2	25973	broad.mit.edu	37	1	55224198	55224198	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55224198C>G	uc001cxy.2	-	2	720	c.637G>C	c.(637-639)GAC>CAC	p.D213H		NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase (mitochondrial)(putative)	213					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			ovary(2)	2					L-Proline(DB00172)													---	---	---	---	capture		Missense_Mutation	SNP	55224198	55224198	11884	1	C	G	G	29	29	PARS2	G	3	3
LEPROT	54741	broad.mit.edu	37	1	65895678	65895678	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65895678G>T	uc001dcf.2	+	3	315	c.226G>T	c.(226-228)GGA>TGA	p.G76*	LEPR_uc001dcg.2_Intron|LEPR_uc001dch.2_Intron|LEPR_uc001dci.2_Intron|LEPR_uc009waq.2_Intron|LEPROT_uc009wap.2_Nonsense_Mutation_p.G85*	NM_017526	NP_059996	O15243	OBRG_HUMAN	leptin receptor gene-related protein	76	Helical; (Potential).					endosome membrane|Golgi membrane|integral to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)														---	---	---	---	capture		Nonsense_Mutation	SNP	65895678	65895678	9056	1	G	T	T	47	47	LEPROT	T	5	2
DPYD	1806	broad.mit.edu	37	1	97547958	97547958	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:97547958C>A	uc001drv.2	-	22	2972	c.2835G>T	c.(2833-2835)GTG>GTT	p.V945V		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	945	4Fe-4S ferredoxin-type 2.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)													---	---	---	---	capture		Silent	SNP	97547958	97547958	4929	1	C	A	A	21	21	DPYD	A	2	2
SPAG17	200162	broad.mit.edu	37	1	118548056	118548056	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118548056G>T	uc001ehk.2	-	32	4825	c.4757C>A	c.(4756-4758)CCT>CAT	p.P1586H		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1586						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)														---	---	---	---	capture		Missense_Mutation	SNP	118548056	118548056	15482	1	G	T	T	35	35	SPAG17	T	2	2
SPAG17	200162	broad.mit.edu	37	1	118635898	118635898	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118635898T>A	uc001ehk.2	-	8	1122	c.1054A>T	c.(1054-1056)ATG>TTG	p.M352L		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	352						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)														---	---	---	---	capture		Missense_Mutation	SNP	118635898	118635898	15482	1	T	A	A	50	50	SPAG17	A	4	4
PPIAL4G	644591	broad.mit.edu	37	1	143767766	143767766	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:143767766T>A	uc001ejt.2	-	1	116	c.83A>T	c.(82-84)AAG>ATG	p.K28M		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like	28	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	143767766	143767766	12753	1	T	A	A	56	56	PPIAL4G	A	4	4
ITGA10	8515	broad.mit.edu	37	1	145532206	145532206	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145532206G>A	uc001eoa.2	+	8	926	c.850G>A	c.(850-852)GAG>AAG	p.E284K	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.E153K|ITGA10_uc009wiw.2_Missense_Mutation_p.E141K|ITGA10_uc010oyw.1_Missense_Mutation_p.E229K	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	284	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)																	---	---	---	---	capture		Missense_Mutation	SNP	145532206	145532206	8177	1	G	A	A	41	41	ITGA10	A	2	2
ADAMTSL4	54507	broad.mit.edu	37	1	150526145	150526145	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150526145C>A	uc001eux.2	+	6	914	c.678C>A	c.(676-678)CCC>CCA	p.P226P	ADAMTSL4_uc001euw.2_Silent_p.P226P|ADAMTSL4_uc009wlw.2_Silent_p.P226P|ADAMTSL4_uc010pcg.1_Silent_p.P226P	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	226					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)															---	---	---	---	capture		Silent	SNP	150526145	150526145	278	1	C	A	A	22	22	ADAMTSL4	A	2	2
SELENBP1	8991	broad.mit.edu	37	1	151338844	151338844	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151338844G>T	uc001exx.2	-	7	797	c.750C>A	c.(748-750)CCC>CCA	p.P250P	SELENBP1_uc010pcy.1_Silent_p.P292P|SELENBP1_uc001exy.2_Silent_p.P147P|SELENBP1_uc001exz.2_Silent_p.P147P|SELENBP1_uc010pcz.1_Silent_p.P188P|SELENBP1_uc009wms.2_Silent_p.P86P|SELENBP1_uc009wmt.2_Silent_p.P147P|SELENBP1_uc001eya.2_Silent_p.P186P|SELENBP1_uc009wmu.2_Silent_p.P147P	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	250					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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		Silent	SNP	151338844	151338844	14500	1	G	T	T	35	35	SELENBP1	T	2	2
FLG	2312	broad.mit.edu	37	1	152281652	152281652	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152281652G>T	uc001ezu.1	-	3	5746	c.5710C>A	c.(5710-5712)CAA>AAA	p.Q1904K		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1904	Ser-rich.|Filaggrin 11.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---	capture		Missense_Mutation	SNP	152281652	152281652	6160	1	G	T	T	48	48	FLG	T	2	2
FLG	2312	broad.mit.edu	37	1	152283326	152283326	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152283326G>T	uc001ezu.1	-	3	4072	c.4036C>A	c.(4036-4038)CAT>AAT	p.H1346N	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1346	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---	capture		Missense_Mutation	SNP	152283326	152283326	6160	1	G	T	T	47	47	FLG	T	2	2
FLG	2312	broad.mit.edu	37	1	152284901	152284901	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152284901G>T	uc001ezu.1	-	3	2497	c.2461C>A	c.(2461-2463)CAC>AAC	p.H821N	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	821	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---	capture		Missense_Mutation	SNP	152284901	152284901	6160	1	G	T	T	47	47	FLG	T	2	2
ASH1L	55870	broad.mit.edu	37	1	155449271	155449271	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155449271G>T	uc009wqq.2	-	3	3870	c.3390C>A	c.(3388-3390)CCC>CCA	p.P1130P	ASH1L_uc001fkt.2_Silent_p.P1130P|ASH1L_uc009wqr.1_Silent_p.P1130P	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1130					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---	capture		Silent	SNP	155449271	155449271	1060	1	G	T	T	47	47	ASH1L	T	2	2
INSRR	3645	broad.mit.edu	37	1	156823678	156823678	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156823678A>G	uc010pht.1	-	2	757	c.503T>C	c.(502-504)GTG>GCG	p.V168A	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.V168A	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	168					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156823678	156823678	8075	1	A	G	G	6	6	INSRR	G	4	4
C1orf92	149499	broad.mit.edu	37	1	156899076	156899076	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156899076C>T	uc001fqm.2	+	10	1173	c.1001C>T	c.(1000-1002)TCC>TTC	p.S334F	C1orf92_uc001fql.2_Missense_Mutation_p.S119F	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN	hypothetical protein LOC149499	334											0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156899076	156899076	2145	1	C	T	T	30	30	C1orf92	T	2	2
CD84	8832	broad.mit.edu	37	1	160523928	160523928	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160523928C>A	uc001fwh.3	-	3	421	c.397G>T	c.(397-399)GGG>TGG	p.G133W	CD84_uc001fwf.3_Missense_Mutation_p.G133W|CD84_uc001fwg.3_Missense_Mutation_p.G133W|CD84_uc009wtn.2_Missense_Mutation_p.G133W|CD84_uc001fwi.3_Missense_Mutation_p.G19W|CD84_uc001fwj.2_Missense_Mutation_p.G133W|CD84_uc001fwk.2_Missense_Mutation_p.G133W	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	CD84 molecule	133	Extracellular (Potential).				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	p.G133G(1)		ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)															---	---	---	---	capture		Missense_Mutation	SNP	160523928	160523928	3170	1	C	A	A	21	21	CD84	A	2	2
ARHGAP30	257106	broad.mit.edu	37	1	161039355	161039355	+	Silent	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161039355G>A	uc001fxl.2	-	1	406	c.60C>T	c.(58-60)TGC>TGT	p.C20C	ARHGAP30_uc001fxk.2_Silent_p.C20C|ARHGAP30_uc001fxm.2_5'UTR|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	20	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)															---	---	---	---	capture		Silent	SNP	161039355	161039355	891	1	G	A	A	38	38	ARHGAP30	A	1	1
DARS2	55157	broad.mit.edu	37	1	173794378	173794378	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173794378C>A	uc001gjh.1	+	1	421	c.11C>A	c.(10-12)CCT>CAT	p.P4H	CENPL_uc009wwg.2_5'Flank|CENPL_uc001gje.3_5'Flank|CENPL_uc001gjg.3_5'Flank|CENPL_uc001gjf.3_5'Flank	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	4					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			central_nervous_system(2)	2					L-Aspartic Acid(DB00128)													---	---	---	---	capture		Missense_Mutation	SNP	173794378	173794378	4409	1	C	A	A	24	24	DARS2	A	2	2
TNR	7143	broad.mit.edu	37	1	175335135	175335135	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175335135G>T	uc001gkp.1	-	9	2274	c.2193C>A	c.(2191-2193)ACC>ACA	p.T731T	TNR_uc009wwu.1_Silent_p.T731T	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	731	Fibronectin type-III 5.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)																	---	---	---	---	capture		Silent	SNP	175335135	175335135	16879	1	G	T	T	39	39	TNR	T	1	1
FAM5B	57795	broad.mit.edu	37	1	177199026	177199026	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:177199026G>A	uc001glf.2	+	2	326	c.14G>A	c.(13-15)TGT>TAT	p.C5Y		NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	5						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	177199026	177199026	5816	1	G	A	A	48	48	FAM5B	A	2	2
TDRD5	163589	broad.mit.edu	37	1	179659920	179659920	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179659920G>T	uc001gnf.1	+	17	3038	c.2788G>T	c.(2788-2790)GAC>TAC	p.D930Y	TDRD5_uc010pnp.1_Missense_Mutation_p.D984Y|TDRD5_uc001gnh.1_Missense_Mutation_p.D485Y	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	930					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	179659920	179659920	16260	1	G	T	T	33	33	TDRD5	T	2	2
CDC73	79577	broad.mit.edu	37	1	193121513	193121513	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:193121513C>A	uc001gtb.2	+	10	1154	c.911C>A	c.(910-912)ACG>AAG	p.T304K		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	304					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49														Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome				---	---	---	---	capture		Missense_Mutation	SNP	193121513	193121513	3214	1	C	A	A	19	19	CDC73	A	1	1
PTPRC	5788	broad.mit.edu	37	1	198678943	198678943	+	Silent	SNP	A	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198678943A>C	uc001gur.1	+	11	1335	c.1155A>C	c.(1153-1155)ACA>ACC	p.T385T	PTPRC_uc001gus.1_Silent_p.T337T|PTPRC_uc001gut.1_Silent_p.T224T|PTPRC_uc009wzf.1_Silent_p.T273T|PTPRC_uc010ppg.1_Silent_p.T321T	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	385	Extracellular (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12																		---	---	---	---	capture		Silent	SNP	198678943	198678943	13254	1	A	C	C	7	7	PTPRC	C	4	4
ZNF281	23528	broad.mit.edu	37	1	200377463	200377463	+	Silent	SNP	T	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200377463T>C	uc001gve.2	-	2	1478	c.1371A>G	c.(1369-1371)GAA>GAG	p.E457E	ZNF281_uc001gvf.1_Silent_p.E457E|ZNF281_uc001gvg.1_Silent_p.E421E	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	457					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2																		---	---	---	---	capture		Silent	SNP	200377463	200377463	18410	1	T	C	C	60	60	ZNF281	C	4	4
ZC3H11A	9877	broad.mit.edu	37	1	203819695	203819695	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203819695C>A	uc001hac.2	+	18	2608	c.1992C>A	c.(1990-1992)CCC>CCA	p.P664P	ZC3H11A_uc001had.2_Silent_p.P664P|ZC3H11A_uc001hae.2_Silent_p.P664P|ZC3H11A_uc001haf.2_Silent_p.P664P|ZC3H11A_uc010pqm.1_Silent_p.P610P	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	664							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---	capture		Silent	SNP	203819695	203819695	18148	1	C	A	A	21	21	ZC3H11A	A	2	2
SLC26A9	115019	broad.mit.edu	37	1	205888040	205888040	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205888040G>T	uc001hdq.2	-	19	2298	c.2184C>A	c.(2182-2184)CCC>CCA	p.P728P	SLC26A9_uc001hdm.2_5'Flank|SLC26A9_uc001hdn.2_5'Flank|SLC26A9_uc001hdo.2_Silent_p.P396P|SLC26A9_uc001hdp.2_Silent_p.P728P	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	728	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)													OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	205888040	205888040	15021	1	G	T	T	47	47	SLC26A9	T	2	2
PCNXL2	80003	broad.mit.edu	37	1	233394515	233394515	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:233394515C>A	uc001hvl.2	-	5	1328	c.1093G>T	c.(1093-1095)GGA>TGA	p.G365*	PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	365						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)																---	---	---	---	capture		Nonsense_Mutation	SNP	233394515	233394515	12012	1	C	A	A	23	23	PCNXL2	A	5	1
OR2L2	26246	broad.mit.edu	37	1	248202064	248202064	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248202064C>A	uc001idw.2	+	1	591	c.495C>A	c.(493-495)ATC>ATA	p.I165I	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)															---	---	---	---	capture		Silent	SNP	248202064	248202064	11413	1	C	A	A	30	30	OR2L2	A	2	2
C10orf18	54906	broad.mit.edu	37	10	5789240	5789240	+	Silent	SNP	C	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5789240C>T	uc001iij.2	+	15	4481	c.3856C>T	c.(3856-3858)CTA>TTA	p.L1286L	C10orf18_uc001iik.2_Silent_p.L130L	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1286										ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Silent	SNP	5789240	5789240	1633	10	C	T	T	32	32	C10orf18	T	2	2
MLLT10	8028	broad.mit.edu	37	10	21962547	21962547	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:21962547G>T	uc001iqs.2	+	11	1668	c.1320G>T	c.(1318-1320)TTG>TTT	p.L440F	MLLT10_uc001iqt.2_Missense_Mutation_p.L440F|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.L440F|MLLT10_uc001ira.2_Intron|MLLT10_uc001irb.2_5'Flank|MLLT10_uc001iqz.2_Missense_Mutation_p.L195F	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	440	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(1)|skin(1)	2								T	MLL|PICALM|CDK6	AL								---	---	---	---	capture		Missense_Mutation	SNP	21962547	21962547	10016	10	G	T	T	47	47	MLLT10	T	2	2
PCDH15	65217	broad.mit.edu	37	10	55582261	55582261	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55582261G>A	uc001jju.1	-	33	5620	c.5225C>T	c.(5224-5226)CCT>CTT	p.P1742L	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1739L|PCDH15_uc010qhw.1_Missense_Mutation_p.P1702L|PCDH15_uc010qhx.1_Missense_Mutation_p.P1673L|PCDH15_uc010qhy.1_Missense_Mutation_p.P1749L|PCDH15_uc010qhz.1_Missense_Mutation_p.P1744L|PCDH15_uc010qia.1_Missense_Mutation_p.P1722L|PCDH15_uc010qib.1_Missense_Mutation_p.P1719L	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1742	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)													HNSCC(58;0.16)			---	---	---	---	capture		Missense_Mutation	SNP	55582261	55582261	11931	10	G	A	A	35	35	PCDH15	A	2	2
ARID5B	84159	broad.mit.edu	37	10	63851839	63851839	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:63851839C>A	uc001jlt.1	+	10	2643	c.2617C>A	c.(2617-2619)CAC>AAC	p.H873N		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	873					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)																	---	---	---	---	capture		Missense_Mutation	SNP	63851839	63851839	937	10	C	A	A	21	21	ARID5B	A	2	2
TET1	80312	broad.mit.edu	37	10	70451506	70451506	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70451506A>G	uc001jok.3	+	12	6851	c.6346A>G	c.(6346-6348)AAT>GAT	p.N2116D		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	2116					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	70451506	70451506	16296	10	A	G	G	5	5	TET1	G	4	4
DDX21	9188	broad.mit.edu	37	10	70731698	70731698	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70731698C>A	uc001jov.1	+	9	1528	c.1438C>A	c.(1438-1440)CTG>ATG	p.L480M	DDX21_uc001jow.1_Missense_Mutation_p.L412M	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 21	480	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	70731698	70731698	4520	10	C	A	A	24	24	DDX21	A	2	2
COL13A1	1305	broad.mit.edu	37	10	71690217	71690217	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71690217A>G	uc001jpr.1	+	28	2095	c.1559A>G	c.(1558-1560)GAT>GGT	p.D520G	COL13A1_uc001jqj.1_Missense_Mutation_p.D520G|COL13A1_uc001jps.1_Missense_Mutation_p.D491G|COL13A1_uc001jpt.1_Missense_Mutation_p.D479G|COL13A1_uc001jpu.1_Missense_Mutation_p.D501G|COL13A1_uc001jpv.1_Missense_Mutation_p.D520G|COL13A1_uc001jpx.1_Missense_Mutation_p.D498G|COL13A1_uc001jpw.1_Missense_Mutation_p.D467G|COL13A1_uc001jpy.1_Missense_Mutation_p.D458G|COL13A1_uc001jpz.1_Missense_Mutation_p.D463G|COL13A1_uc001jqa.1_Missense_Mutation_p.D460G|COL13A1_uc001jqc.1_Missense_Mutation_p.D520G|COL13A1_uc001jqb.1_Missense_Mutation_p.D469G|COL13A1_uc001jql.2_Missense_Mutation_p.D520G|COL13A1_uc001jqd.1_Missense_Mutation_p.D508G|COL13A1_uc001jqe.1_Missense_Mutation_p.D503G|COL13A1_uc001jqf.1_Missense_Mutation_p.D501G|COL13A1_uc001jqg.1_Missense_Mutation_p.D498G|COL13A1_uc001jqh.1_Missense_Mutation_p.D520G|COL13A1_uc001jqi.1_Missense_Mutation_p.D520G|COL13A1_uc010qjf.1_Missense_Mutation_p.D310G	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	520	Extracellular (Potential).|Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)													---	---	---	---	capture		Missense_Mutation	SNP	71690217	71690217	3808	10	A	G	G	12	12	COL13A1	G	4	4
LRRC20	55222	broad.mit.edu	37	10	72100443	72100443	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72100443T>A	uc001jqx.1	-	3	320	c.98A>T	c.(97-99)AAG>ATG	p.K33M	LRRC20_uc001jqy.1_Missense_Mutation_p.K33M|LRRC20_uc001jqz.1_Intron	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20 isoform 1	33											0																		---	---	---	---	capture		Missense_Mutation	SNP	72100443	72100443	9351	10	T	A	A	56	56	LRRC20	A	4	4
LRIT1	26103	broad.mit.edu	37	10	85993948	85993948	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:85993948C>A	uc001kcz.1	-	3	798	c.776G>T	c.(775-777)GGA>GTA	p.G259V		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	259	Lumenal (Potential).					integral to endoplasmic reticulum membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	85993948	85993948	9320	10	C	A	A	30	30	LRIT1	A	2	2
SORBS1	10580	broad.mit.edu	37	10	97098986	97098986	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97098986C>A	uc001kkp.2	-	27	2814	c.2769G>T	c.(2767-2769)GTG>GTT	p.V923V	SORBS1_uc001kkk.2_Silent_p.V417V|SORBS1_uc001kkl.2_Silent_p.V525V|SORBS1_uc001kkn.2_Silent_p.V688V|SORBS1_uc001kkm.2_Silent_p.V723V|SORBS1_uc001kko.2_Silent_p.V945V|SORBS1_uc001kkq.2_Silent_p.V774V|SORBS1_uc001kkr.2_Silent_p.V629V|SORBS1_uc001kks.2_Silent_p.V573V|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Silent_p.V670V|SORBS1_uc001kkv.2_Silent_p.V705V|SORBS1_uc001kkw.2_Silent_p.V877V|SORBS1_uc010qoe.1_Silent_p.V638V	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	923	SH3 2.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)														---	---	---	---	capture		Silent	SNP	97098986	97098986	15427	10	C	A	A	21	21	SORBS1	A	2	2
SUFU	51684	broad.mit.edu	37	10	104353429	104353429	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104353429C>A	uc001kvy.1	+	5	780	c.634C>A	c.(634-636)CAG>AAG	p.Q212K	SUFU_uc001kvw.1_Missense_Mutation_p.Q212K|SUFU_uc001kvx.2_Missense_Mutation_p.Q212K	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	suppressor of fused	212					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			central_nervous_system(4)|skin(2)|breast(1)	7		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)				D|F|S		medulloblastoma	medulloblastoma			Medulloblastoma_associated_with_Germline_SUFU_Mutation				---	---	---	---	capture		Missense_Mutation	SNP	104353429	104353429	15888	10	C	A	A	21	21	SUFU	A	2	2
TAF5	6877	broad.mit.edu	37	10	105141477	105141477	+	Splice_Site	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105141477G>T	uc001kwv.2	+	6	1437	c.1414_splice	c.e6-1	p.G472_splice	TAF5_uc010qqq.1_Splice_Site_p.G472_splice	NM_006951	NP_008882			TBP-associated factor 5						histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)														---	---	---	---	capture		Splice_Site	SNP	105141477	105141477	16049	10	G	T	T	35	35	TAF5	T	5	2
COL17A1	1308	broad.mit.edu	37	10	105830239	105830239	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105830239G>T	uc001kxr.2	-	9	721	c.552C>A	c.(550-552)CCC>CCA	p.P184P	COL17A1_uc010qqv.1_Silent_p.P168P|COL17A1_uc009xxp.1_Silent_p.P184P	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	184	Cytoplasmic (Potential).|Nonhelical region (NC16).|Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)														---	---	---	---	capture		Silent	SNP	105830239	105830239	3812	10	G	T	T	47	47	COL17A1	T	2	2
NRAP	4892	broad.mit.edu	37	10	115365986	115365986	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115365986C>G	uc001laj.2	-	33	3922	c.3758G>C	c.(3757-3759)GGT>GCT	p.G1253A	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.G1218A|NRAP_uc001lal.3_Missense_Mutation_p.G1253A	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1253	Nebulin 33.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)														---	---	---	---	capture		Missense_Mutation	SNP	115365986	115365986	11043	10	C	G	G	18	18	NRAP	G	3	3
CASP7	840	broad.mit.edu	37	10	115486137	115486137	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115486137C>A	uc001lan.2	+	6	800	c.626C>A	c.(625-627)CCT>CAT	p.P209H	CASP7_uc001lam.2_Missense_Mutation_p.L198I|CASP7_uc001lao.2_Missense_Mutation_p.P242H|CASP7_uc001lap.2_Missense_Mutation_p.P209H|CASP7_uc001laq.2_Missense_Mutation_p.P209H|CASP7_uc010qsa.1_Missense_Mutation_p.P294H|CASP7_uc010qsb.1_Missense_Mutation_p.P184H	NM_033339	NP_203125	P55210	CASP7_HUMAN	caspase 7 isoform alpha	209					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)														---	---	---	---	capture		Missense_Mutation	SNP	115486137	115486137	2795	10	C	A	A	24	24	CASP7	A	2	2
KCNK18	338567	broad.mit.edu	37	10	118960727	118960727	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118960727G>T	uc010qsr.1	+	2	281	c.281G>T	c.(280-282)TGG>TTG	p.W94L		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	94						integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)														---	---	---	---	capture		Missense_Mutation	SNP	118960727	118960727	8370	10	G	T	T	47	47	KCNK18	T	2	2
CUZD1	50624	broad.mit.edu	37	10	124597003	124597003	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124597003C>G	uc001lgq.2	-	4	848	c.516G>C	c.(514-516)AAG>AAC	p.K172N	CUZD1_uc001lgp.2_5'UTR|CUZD1_uc009yad.2_5'UTR|CUZD1_uc009yaf.2_Intron|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_5'UTR|CUZD1_uc009yae.2_5'UTR|CUZD1_uc001lgs.2_Missense_Mutation_p.K172N|CUZD1_uc010qtz.1_Missense_Mutation_p.K172N	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1 precursor	172	Extracellular (Potential).|CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				ovary(1)|skin(1)	2		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)														---	---	---	---	capture		Missense_Mutation	SNP	124597003	124597003	4226	10	C	G	G	28	28	CUZD1	G	3	3
IKZF5	64376	broad.mit.edu	37	10	124758038	124758038	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124758038C>T	uc001lha.2	-	3	403	c.104G>A	c.(103-105)GGG>GAG	p.G35E		NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	zinc finger protein, subfamily 1A, 5	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)														---	---	---	---	capture		Missense_Mutation	SNP	124758038	124758038	7919	10	C	T	T	22	22	IKZF5	T	2	2
MKI67	4288	broad.mit.edu	37	10	129907017	129907017	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129907017C>A	uc001lke.2	-	13	3282	c.3087G>T	c.(3085-3087)CTG>CTT	p.L1029L	MKI67_uc001lkf.2_Silent_p.L669L|MKI67_uc009yav.1_Silent_p.L604L|MKI67_uc009yaw.1_Silent_p.L179L	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1029	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		Silent	SNP	129907017	129907017	9988	10	C	A	A	21	21	MKI67	A	2	2
MUC2	4583	broad.mit.edu	37	11	1093582	1093582	+	Missense_Mutation	SNP	G	C	C	rs55641679		TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1093582G>C	uc001lsx.1	+	31	12514	c.12487G>C	c.(12487-12489)GCA>CCA	p.A4163P		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4163				P -> A (in Ref. 4).		inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)													---	---	---	---	capture		Missense_Mutation	SNP	1093582	1093582	10369	11	G	C	C	38	38	MUC2	C	3	3
MUC5B	727897	broad.mit.edu	37	11	1157747	1157747	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1157747G>T	uc009ycr.1	+	9	940	c.814G>T	c.(814-816)GGC>TGC	p.G272C		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	268	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)														---	---	---	---	capture		Missense_Mutation	SNP	1157747	1157747	10373	11	G	T	T	39	39	MUC5B	T	1	1
MUC5B	727897	broad.mit.edu	37	11	1271174	1271174	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1271174C>G	uc009ycr.1	+	51	14609	c.14483C>G	c.(14482-14484)TCC>TGC	p.S4828C	MUC5B_uc001ltb.2_Missense_Mutation_p.S4358C	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4355	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)														---	---	---	---	capture		Missense_Mutation	SNP	1271174	1271174	10373	11	C	G	G	30	30	MUC5B	G	3	3
TRIM21	6737	broad.mit.edu	37	11	4408217	4408217	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4408217C>A	uc001lyy.1	-	5	852	c.739G>T	c.(739-741)GTG>TTG	p.V247L		NM_003141	NP_003132	P19474	RO52_HUMAN	tripartite motif protein 21	247					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)														---	---	---	---	capture		Missense_Mutation	SNP	4408217	4408217	17039	11	C	A	A	18	18	TRIM21	A	2	2
OR52B2	255725	broad.mit.edu	37	11	6190909	6190909	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6190909G>T	uc010qzy.1	-	1	648	c.648C>A	c.(646-648)ATC>ATA	p.I216I		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B,	216	Helical; Name=5; (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;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Silent	SNP	6190909	6190909	11521	11	G	T	T	37	37	OR52B2	T	1	1
CTR9	9646	broad.mit.edu	37	11	10776627	10776627	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10776627G>T	uc001mja.2	+	3	416	c.267G>T	c.(265-267)TTG>TTT	p.L89F		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	89					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)														---	---	---	---	capture		Missense_Mutation	SNP	10776627	10776627	4183	11	G	T	T	47	47	CTR9	T	2	2
EIF4G2	1982	broad.mit.edu	37	11	10828419	10828419	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10828419C>A	uc001mjc.2	-	3	472	c.55G>T	c.(55-57)GGA>TGA	p.G19*	EIF4G2_uc001mjb.2_5'UTR|EIF4G2_uc009ygf.2_5'UTR|EIF4G2_uc001mjd.2_Nonsense_Mutation_p.G19*|EIF4G2_uc001mjf.1_5'UTR	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	19					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)														---	---	---	---	capture		Nonsense_Mutation	SNP	10828419	10828419	5228	11	C	A	A	23	23	EIF4G2	A	5	1
HPS5	11234	broad.mit.edu	37	11	18303747	18303747	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18303747C>A	uc001mod.1	-	22	3357	c.3079G>T	c.(3079-3081)GAG>TAG	p.E1027*	HPS5_uc001moe.1_Nonsense_Mutation_p.E913*|HPS5_uc001mof.1_Nonsense_Mutation_p.E913*	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5 isoform a	1027						cytosol				ovary(1)|pancreas(1)|skin(1)	3														Hermansky-Pudlak_syndrome				---	---	---	---	capture		Nonsense_Mutation	SNP	18303747	18303747	7634	11	C	A	A	30	30	HPS5	A	5	2
COMMD9	29099	broad.mit.edu	37	11	36296266	36296266	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:36296266C>A	uc001mwn.3	-	6	550	c.513G>T	c.(511-513)GTG>GTT	p.V171V	COMMD9_uc009ykj.2_Silent_p.V129V|COMMD9_uc009yki.1_5'Flank	NM_014186	NP_054905	Q9P000	COMD9_HUMAN	COMM domain containing 9 isoform 1	171	COMM.									ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)																---	---	---	---	capture		Silent	SNP	36296266	36296266	3861	11	C	A	A	21	21	COMMD9	A	2	2
LRP4	4038	broad.mit.edu	37	11	46900684	46900684	+	Silent	SNP	C	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46900684C>T	uc001ndn.3	-	21	3143	c.2997G>A	c.(2995-2997)CGG>CGA	p.R999R		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	999	Extracellular (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)														---	---	---	---	capture		Silent	SNP	46900684	46900684	9332	11	C	T	T	26	26	LRP4	T	2	2
MADD	8567	broad.mit.edu	37	11	47306566	47306566	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47306566C>A	uc001ner.1	+	13	2423	c.2232C>A	c.(2230-2232)CCC>CCA	p.P744P	MADD_uc001neq.2_Silent_p.P744P|MADD_uc001nev.1_Silent_p.P744P|MADD_uc001nes.1_Silent_p.P744P|MADD_uc001net.1_Silent_p.P744P|MADD_uc009yln.1_Silent_p.P744P|MADD_uc001neu.1_Silent_p.P744P|MADD_uc001nex.2_Silent_p.P744P|MADD_uc001nez.2_Silent_p.P744P|MADD_uc001new.2_Silent_p.P744P	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	744					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	p.P744L(1)		ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)														---	---	---	---	capture		Silent	SNP	47306566	47306566	9529	11	C	A	A	21	21	MADD	A	2	2
OR4C13	283092	broad.mit.edu	37	11	49974260	49974260	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:49974260A>T	uc010rhz.1	+	1	286	c.286A>T	c.(286-288)ATG>TTG	p.M96L		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	49974260	49974260	11453	11	A	T	T	16	16	OR4C13	T	4	4
OR4A15	81328	broad.mit.edu	37	11	55135552	55135552	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55135552G>A	uc010rif.1	+	1	193	c.193G>A	c.(193-195)GTG>ATG	p.V65M		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	65	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	55135552	55135552	11446	11	G	A	A	44	44	OR4A15	A	2	2
OR4A15	81328	broad.mit.edu	37	11	55136373	55136373	+	Silent	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55136373G>A	uc010rif.1	+	1	1014	c.1014G>A	c.(1012-1014)GGG>GGA	p.G338G		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	338	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	55136373	55136373	11446	11	G	A	A	41	41	OR4A15	A	2	2
OR5D18	219438	broad.mit.edu	37	11	55587161	55587161	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55587161C>A	uc010rin.1	+	1	56	c.56C>A	c.(55-57)TCA>TAA	p.S19*		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	19	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)																---	---	---	---	capture		Nonsense_Mutation	SNP	55587161	55587161	11567	11	C	A	A	29	29	OR5D18	A	5	2
OR8H3	390152	broad.mit.edu	37	11	55890170	55890170	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55890170G>T	uc001nii.1	+	1	322	c.322G>T	c.(322-324)GGT>TGT	p.G108C		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)																	---	---	---	---	capture		Missense_Mutation	SNP	55890170	55890170	11650	11	G	T	T	43	43	OR8H3	T	2	2
OR8H3	390152	broad.mit.edu	37	11	55890505	55890505	+	Silent	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55890505G>A	uc001nii.1	+	1	657	c.657G>A	c.(655-657)GTG>GTA	p.V219V		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	219	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)																	---	---	---	---	capture		Silent	SNP	55890505	55890505	11650	11	G	A	A	48	48	OR8H3	A	2	2
OR5J2	282775	broad.mit.edu	37	11	55944289	55944289	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55944289C>G	uc010rjb.1	+	1	196	c.196C>G	c.(196-198)CTT>GTT	p.L66V		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)																	---	---	---	---	capture		Missense_Mutation	SNP	55944289	55944289	11575	11	C	G	G	32	32	OR5J2	G	3	3
OR5T1	390155	broad.mit.edu	37	11	56043645	56043645	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56043645C>A	uc001nio.1	+	1	531	c.531C>A	c.(529-531)AGC>AGA	p.S177R		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	177	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)																	---	---	---	---	capture		Missense_Mutation	SNP	56043645	56043645	11591	11	C	A	A	26	26	OR5T1	A	2	2
SERPING1	710	broad.mit.edu	37	11	57367812	57367812	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57367812C>A	uc001nkp.1	+	3	703	c.512C>A	c.(511-513)CCA>CAA	p.P171Q	SERPING1_uc001nkq.1_Missense_Mutation_p.P171Q|SERPING1_uc010rju.1_Missense_Mutation_p.P119Q|SERPING1_uc010rjv.1_Missense_Mutation_p.P176Q|SERPING1_uc001nkr.1_Missense_Mutation_p.P171Q|SERPING1_uc009ymi.1_Missense_Mutation_p.P171Q|SERPING1_uc009ymj.1_Missense_Mutation_p.P171Q|SERPING1_uc001nks.1_Intron	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	171					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1														Hereditary_Angioedema				---	---	---	---	capture		Missense_Mutation	SNP	57367812	57367812	14604	11	C	A	A	21	21	SERPING1	A	2	2
OR4D6	219983	broad.mit.edu	37	11	59224488	59224488	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59224488C>A	uc010rku.1	+	1	55	c.55C>A	c.(55-57)CGT>AGT	p.R19S		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	19	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	59224488	59224488	11465	11	C	A	A	19	19	OR4D6	A	1	1
MRPL16	54948	broad.mit.edu	37	11	59573867	59573867	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59573867G>T	uc001noh.2	-	4	923	c.709C>A	c.(709-711)CAC>AAC	p.H237N		NM_017840	NP_060310	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16 precursor	237							rRNA binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	59573867	59573867	10174	11	G	T	T	47	47	MRPL16	T	2	2
EML3	256364	broad.mit.edu	37	11	62375763	62375763	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62375763C>A	uc001ntu.1	-	10	1424	c.1116G>T	c.(1114-1116)CAG>CAT	p.Q372H	EML3_uc001ntr.1_Missense_Mutation_p.Q344H|EML3_uc001nts.1_Missense_Mutation_p.Q344H|EML3_uc001ntt.1_Missense_Mutation_p.Q256H|EML3_uc010rly.1_Missense_Mutation_p.Q372H|EML3_uc009yny.1_Missense_Mutation_p.Q155H	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	372	WD 2.					cytoplasm|microtubule	protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	62375763	62375763	5290	11	C	A	A	24	24	EML3	A	2	2
TM7SF2	7108	broad.mit.edu	37	11	64880868	64880868	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64880868G>C	uc001oct.2	+	4	628	c.481G>C	c.(481-483)GCA>CCA	p.A161P	TM7SF2_uc010rny.1_Missense_Mutation_p.A45P|TM7SF2_uc001ocu.2_Missense_Mutation_p.A161P|TM7SF2_uc001ocv.2_Missense_Mutation_p.A182P	NM_003273	NP_003264	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	161					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			ovary(1)	1																OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	64880868	64880868	16504	11	G	C	C	42	42	TM7SF2	C	3	3
TM7SF2	7108	broad.mit.edu	37	11	64882855	64882855	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64882855C>A	uc001oct.2	+	8	1109	c.962C>A	c.(961-963)CCC>CAC	p.P321H	TM7SF2_uc010rny.1_Missense_Mutation_p.P205H|TM7SF2_uc001ocu.2_Intron|TM7SF2_uc001ocv.2_Missense_Mutation_p.P342H|uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	321					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	64882855	64882855	16504	11	C	A	A	22	22	TM7SF2	A	2	2
DPP3	10072	broad.mit.edu	37	11	66254031	66254031	+	Silent	SNP	C	T	T	rs76983925	by1000genomes	TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66254031C>T	uc001oig.1	+	4	443	c.381C>T	c.(379-381)ATC>ATT	p.I127I	DPP3_uc001oif.1_Silent_p.I127I|DPP3_uc010rpe.1_Silent_p.I116I	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	127					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	66254031	66254031	4912	11	C	T	T	30	30	DPP3	T	2	2
RBM4	5936	broad.mit.edu	37	11	66411414	66411414	+	Silent	SNP	A	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66411414A>T	uc009yrj.2	+	3	1394	c.906A>T	c.(904-906)TCA>TCT	p.S302S	RBM4_uc009yrk.2_Silent_p.S277S|RBM4_uc001oiw.1_Silent_p.S302S|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.S302S|RBM4_uc001oiz.1_Silent_p.S302S	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	302	Interaction with TNPO3.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)														---	---	---	---	capture		Silent	SNP	66411414	66411414	13596	11	A	T	T	8	8	RBM4	T	4	4
AIP	9049	broad.mit.edu	37	11	67258318	67258318	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67258318G>C	uc001olv.2	+	6	972	c.847G>C	c.(847-849)GAG>CAG	p.E283Q		NM_003977	NP_003968	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	283	TPR 2.				protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding				0														Familial_Isolated_Pituitary_Adenoma_				---	---	---	---	capture		Missense_Mutation	SNP	67258318	67258318	438	11	G	C	C	41	41	AIP	C	3	3
GAL	51083	broad.mit.edu	37	11	68453099	68453099	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68453099G>T	uc001oob.2	+	3	337	c.119G>T	c.(118-120)GGC>GTC	p.G40V		NM_015973	NP_057057	P22466	GALA_HUMAN	galanin preproprotein	40					growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity				0	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)														---	---	---	---	capture		Missense_Mutation	SNP	68453099	68453099	6460	11	G	T	T	42	42	GAL	T	2	2
CPT1A	1374	broad.mit.edu	37	11	68574951	68574951	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68574951G>A	uc001oog.3	-	4	607	c.437C>T	c.(436-438)GCC>GTC	p.A146V	CPT1A_uc001oof.3_Missense_Mutation_p.A146V|CPT1A_uc009ysj.2_Missense_Mutation_p.A146V	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	146	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)													---	---	---	---	capture		Missense_Mutation	SNP	68574951	68574951	3970	11	G	A	A	42	42	CPT1A	A	2	2
IGHMBP2	3508	broad.mit.edu	37	11	68703849	68703849	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68703849G>T	uc001ook.1	+	13	2003	c.1901G>T	c.(1900-1902)GGG>GTG	p.G634V	IGHMBP2_uc001ool.1_Missense_Mutation_p.G258V|IGHMBP2_uc001oom.1_Missense_Mutation_p.G212V	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	634					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)															---	---	---	---	capture		Missense_Mutation	SNP	68703849	68703849	7892	11	G	T	T	43	43	IGHMBP2	T	2	2
CTTN	2017	broad.mit.edu	37	11	70255985	70255985	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70255985G>T	uc001opv.3	+	5	416	c.210G>T	c.(208-210)AAG>AAT	p.K70N	CTTN_uc001opu.2_Missense_Mutation_p.K70N|CTTN_uc001opw.3_Missense_Mutation_p.K70N	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	70						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)														---	---	---	---	capture		Missense_Mutation	SNP	70255985	70255985	4203	11	G	T	T	35	35	CTTN	T	2	2
CTTN	2017	broad.mit.edu	37	11	70261817	70261817	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70261817C>A	uc001opv.3	+	7	657	c.451C>A	c.(451-453)CAG>AAG	p.Q151K	CTTN_uc001opu.2_Missense_Mutation_p.Q151K|CTTN_uc001opw.3_Missense_Mutation_p.Q151K	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	151	Cortactin 2.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)														---	---	---	---	capture		Missense_Mutation	SNP	70261817	70261817	4203	11	C	A	A	21	21	CTTN	A	2	2
CTTN	2017	broad.mit.edu	37	11	70267641	70267641	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70267641G>T	uc001opv.3	+	11	1062	c.856G>T	c.(856-858)GGG>TGG	p.G286W	CTTN_uc001opu.2_Intron|CTTN_uc001opw.3_Intron|CTTN_uc010rqm.1_Intron|CTTN_uc001opx.2_5'Flank	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	286	Cortactin 6.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)														---	---	---	---	capture		Missense_Mutation	SNP	70267641	70267641	4203	11	G	T	T	43	43	CTTN	T	2	2
KRTAP5-7	440050	broad.mit.edu	37	11	71238755	71238755	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71238755G>T	uc001oqq.1	+	1	443	c.409G>T	c.(409-411)GGG>TGG	p.G137W		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	137	7 X 4 AA repeats of C-C-X-P.					keratin filament					0																		---	---	---	---	capture		Missense_Mutation	SNP	71238755	71238755	8888	11	G	T	T	47	47	KRTAP5-7	T	2	2
ARRB1	408	broad.mit.edu	37	11	74994459	74994459	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74994459G>A	uc001owe.1	-	5	448	c.226C>T	c.(226-228)CGC>TGC	p.R76C	ARRB1_uc001owf.1_Missense_Mutation_p.R76C	NM_004041	NP_004032	P49407	ARRB1_HUMAN	arrestin beta 1 isoform A	76	Interaction with CHRM2 (By similarity).|Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	74994459	74994459	998	11	G	A	A	37	37	ARRB1	A	1	1
PCF11	51585	broad.mit.edu	37	11	82876823	82876823	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:82876823G>T	uc001ozx.3	+	5	1229	c.884G>T	c.(883-885)CGG>CTG	p.R295L	PCF11_uc010rsu.1_Missense_Mutation_p.R295L	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	295					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		Missense_Mutation	SNP	82876823	82876823	11993	11	G	T	T	39	39	PCF11	T	1	1
ATM	472	broad.mit.edu	37	11	108224510	108224510	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108224510G>A	uc001pkb.1	+	60	9074	c.8689G>A	c.(8689-8691)GGC>AGC	p.G2897S	ATM_uc009yxr.1_Missense_Mutation_p.G2897S|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.G1549S	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2897	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)				D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			---	---	---	---	capture		Missense_Mutation	SNP	108224510	108224510	1128	11	G	A	A	43	43	ATM	A	2	2
PHLDB1	23187	broad.mit.edu	37	11	118498958	118498958	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118498958C>A	uc001ptr.1	+	7	1772	c.1419C>A	c.(1417-1419)CCC>CCA	p.P473P	PHLDB1_uc001pts.2_Silent_p.P473P|PHLDB1_uc001ptt.2_Silent_p.P473P|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Silent_p.P273P|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	473											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)														---	---	---	---	capture		Silent	SNP	118498958	118498958	12275	11	C	A	A	21	21	PHLDB1	A	2	2
IGSF9B	22997	broad.mit.edu	37	11	133805642	133805642	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:133805642C>G	uc001qgx.3	-	7	1068	c.837G>C	c.(835-837)AGG>AGC	p.R279S	IGSF9B_uc001qgy.1_Missense_Mutation_p.R121S	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	279	Extracellular (Potential).|Ig-like 3.					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)														---	---	---	---	capture		Missense_Mutation	SNP	133805642	133805642	7907	11	C	G	G	22	22	IGSF9B	G	3	3
GLB1L2	89944	broad.mit.edu	37	11	134228991	134228991	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134228991C>A	uc001qhp.2	+	7	877	c.689C>A	c.(688-690)ACT>AAT	p.T230N	GLB1L2_uc009zdg.1_RNA	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	230					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)														---	---	---	---	capture		Missense_Mutation	SNP	134228991	134228991	6697	11	C	A	A	20	20	GLB1L2	A	2	2
C12orf5	57103	broad.mit.edu	37	12	4461510	4461510	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4461510G>T	uc001qmp.2	+	6	545	c.466G>T	c.(466-468)GGA>TGA	p.G156*		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	TP53-induced glycolysis and apoptosis regulator	156						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			skin(1)	1			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)															---	---	---	---	capture		Nonsense_Mutation	SNP	4461510	4461510	1738	12	G	T	T	35	35	C12orf5	T	5	2
ZNF705A	440077	broad.mit.edu	37	12	8329842	8329842	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8329842G>T	uc001qud.1	+	5	638	c.566G>T	c.(565-567)CGG>CTG	p.R189L	FAM66C_uc001que.3_5'Flank|FAM66C_uc001quf.3_5'Flank|FAM66C_uc009zgc.2_5'Flank|FAM66C_uc001qug.3_5'Flank	NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	189	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				Kidney(36;0.0877)														---	---	---	---	capture		Missense_Mutation	SNP	8329842	8329842	18703	12	G	T	T	39	39	ZNF705A	T	1	1
WBP11	51729	broad.mit.edu	37	12	14947584	14947584	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14947584G>T	uc001rci.2	-	7	769	c.608C>A	c.(607-609)CCC>CAC	p.P203H		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	203	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	14947584	14947584	17830	12	G	T	T	43	43	WBP11	T	2	2
STK38L	23012	broad.mit.edu	37	12	27450705	27450705	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27450705C>T	uc001rhr.2	+	2	251	c.52C>T	c.(52-54)CGG>TGG	p.R18W	STK38L_uc001rhs.2_RNA|STK38L_uc010sjm.1_Intron	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	18					intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1)	5	Colorectal(261;0.0847)																	---	---	---	---	capture		Missense_Mutation	SNP	27450705	27450705	15824	12	C	T	T	23	23	STK38L	T	1	1
NELL2	4753	broad.mit.edu	37	12	45173639	45173639	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:45173639A>T	uc001rog.2	-	4	1097	c.502T>A	c.(502-504)TGC>AGC	p.C168S	NELL2_uc001rof.3_Missense_Mutation_p.C167S|NELL2_uc001roh.2_Missense_Mutation_p.C168S|NELL2_uc009zkd.2_Missense_Mutation_p.C167S|NELL2_uc010skz.1_Missense_Mutation_p.C218S|NELL2_uc010sla.1_Missense_Mutation_p.C191S|NELL2_uc001roi.1_Missense_Mutation_p.C168S|NELL2_uc010slb.1_Missense_Mutation_p.C167S|NELL2_uc001roj.2_Missense_Mutation_p.C168S	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	168	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)														---	---	---	---	capture		Missense_Mutation	SNP	45173639	45173639	10733	12	A	T	T	7	7	NELL2	T	4	4
MLL2	8085	broad.mit.edu	37	12	49443771	49443771	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49443771G>C	uc001rta.3	-	11	3600	c.3600C>G	c.(3598-3600)ATC>ATG	p.I1200M		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1200					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---	capture		Missense_Mutation	SNP	49443771	49443771	10011	12	G	C	C	45	45	MLL2	C	3	3
ITGA5	3678	broad.mit.edu	37	12	54797971	54797971	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54797971G>T	uc001sga.2	-	15	1591	c.1523C>A	c.(1522-1524)CCA>CAA	p.P508Q		NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	508	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(2)	2																OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	54797971	54797971	8183	12	G	T	T	47	47	ITGA5	T	2	2
AGAP2	116986	broad.mit.edu	37	12	58128454	58128454	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58128454C>A	uc001spq.2	-	3	1236	c.1236G>T	c.(1234-1236)CTG>CTT	p.L412L	AGAP2_uc001spp.2_Silent_p.L412L|AGAP2_uc001spr.2_Silent_p.L76L	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	412	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5																		---	---	---	---	capture		Silent	SNP	58128454	58128454	370	12	C	A	A	21	21	AGAP2	A	2	2
FRS2	10818	broad.mit.edu	37	12	69968637	69968637	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69968637G>T	uc001suy.2	+	10	1939	c.1429G>T	c.(1429-1431)GAG>TAG	p.E477*	FRS2_uc001suz.2_Nonsense_Mutation_p.E477*|FRS2_uc009zrj.2_Nonsense_Mutation_p.E477*|FRS2_uc009zrk.2_Nonsense_Mutation_p.E477*	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	477					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			prostate(1)|kidney(1)	2	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)															---	---	---	---	capture		Nonsense_Mutation	SNP	69968637	69968637	6311	12	G	T	T	37	37	FRS2	T	5	1
LIN7A	8825	broad.mit.edu	37	12	81283074	81283074	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81283074G>T	uc001szj.1	-	2	350	c.157C>A	c.(157-159)CTC>ATC	p.L53I	LIN7A_uc001szk.1_RNA	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	53	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	81283074	81283074	9137	12	G	T	T	35	35	LIN7A	T	2	2
SLC41A2	84102	broad.mit.edu	37	12	105282956	105282956	+	Splice_Site	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:105282956C>A	uc001tla.2	-	4	903	c.736_splice	c.e4-1	p.V246_splice		NM_032148	NP_115524			solute carrier family 41, member 2							integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Splice_Site	SNP	105282956	105282956	15127	12	C	A	A	24	24	SLC41A2	A	5	2
IFT81	28981	broad.mit.edu	37	12	110656005	110656005	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110656005G>T	uc001tqi.2	+	19	2135	c.2005G>T	c.(2005-2007)GGT>TGT	p.G669C	IFT81_uc001tqh.2_Missense_Mutation_p.G669C|IFT81_uc001tqj.2_RNA	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	669					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	110656005	110656005	7866	12	G	T	T	43	43	IFT81	T	2	2
NOS1	4842	broad.mit.edu	37	12	117672370	117672370	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117672370C>A	uc001twm.1	-	21	3921	c.3235G>T	c.(3235-3237)GGT>TGT	p.G1079C		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1079	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)													---	---	---	---	capture		Missense_Mutation	SNP	117672370	117672370	10944	12	C	A	A	24	24	NOS1	A	2	2
ZMYM2	7750	broad.mit.edu	37	13	20567903	20567903	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20567903G>T	uc001umr.2	+	4	989	c.691G>T	c.(691-693)GGA>TGA	p.G231*	ZMYM2_uc001umq.2_Intron|ZMYM2_uc001ums.2_Nonsense_Mutation_p.G231*|ZMYM2_uc001umt.2_Nonsense_Mutation_p.G231*|ZMYM2_uc009zzn.1_Intron	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)														---	---	---	---	capture		Nonsense_Mutation	SNP	20567903	20567903	18291	13	G	T	T	39	39	ZMYM2	T	5	1
LNX2	222484	broad.mit.edu	37	13	28143277	28143277	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28143277C>A	uc001url.3	-	3	853	c.544G>T	c.(544-546)GGG>TGG	p.G182W	LNX2_uc001urm.1_Missense_Mutation_p.G182W	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	182							zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)														---	---	---	---	capture		Missense_Mutation	SNP	28143277	28143277	9195	13	C	A	A	22	22	LNX2	A	2	2
SLC46A3	283537	broad.mit.edu	37	13	29278231	29278231	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:29278231G>T	uc001usi.2	-	4	2120	c.1150C>A	c.(1150-1152)CTG>ATG	p.L384M	SLC46A3_uc001usg.2_Missense_Mutation_p.L309M|SLC46A3_uc001usj.2_Missense_Mutation_p.L384M|SLC46A3_uc001ush.2_Missense_Mutation_p.L384M	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	384	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)														---	---	---	---	capture		Missense_Mutation	SNP	29278231	29278231	15143	13	G	T	T	35	35	SLC46A3	T	2	2
SLC25A15	10166	broad.mit.edu	37	13	41381479	41381479	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:41381479G>T	uc001uxn.2	+	5	824	c.502G>T	c.(502-504)GGG>TGG	p.G168W	SUGT1L1_uc001uxp.1_Intron|SLC25A15_uc010tfb.1_Missense_Mutation_p.G74W|SUGT1L1_uc001uxo.1_RNA	NM_014252	NP_055067	Q9Y619	ORNT1_HUMAN	mitochondrial ornithine transporter 1	168	Helical; Name=4; (Potential).|Solcar 2.				cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity				0		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)													---	---	---	---	capture		Missense_Mutation	SNP	41381479	41381479	14974	13	G	T	T	43	43	SLC25A15	T	2	2
COG3	83548	broad.mit.edu	37	13	46077414	46077414	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46077414G>T	uc001vak.2	+	14	1625	c.1524G>T	c.(1522-1524)AAG>AAT	p.K508N	COG3_uc001vaj.1_Missense_Mutation_p.K508N|COG3_uc010tfv.1_Missense_Mutation_p.K345N|COG3_uc010aci.2_Missense_Mutation_p.K284N	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	508					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)														---	---	---	---	capture		Missense_Mutation	SNP	46077414	46077414	3797	13	G	T	T	35	35	COG3	T	2	2
SLAIN1	122060	broad.mit.edu	37	13	78335084	78335084	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:78335084G>T	uc010thy.1	+	6	1087	c.1044G>T	c.(1042-1044)ATG>ATT	p.M348I	SLAIN1_uc001vkk.1_Missense_Mutation_p.M271I|SLAIN1_uc001vkl.1_Missense_Mutation_p.M227I|SLAIN1_uc010thz.1_Missense_Mutation_p.M226I|SLAIN1_uc010aex.1_Missense_Mutation_p.M113I|SLAIN1_uc010aey.1_Missense_Mutation_p.M113I|SLAIN1_uc001vkm.2_Missense_Mutation_p.M227I	NM_144595	NP_653196	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1 B	490										ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)														---	---	---	---	capture		Missense_Mutation	SNP	78335084	78335084	14860	13	G	T	T	46	46	SLAIN1	T	2	2
LIG4	3981	broad.mit.edu	37	13	108863508	108863508	+	Nonsense_Mutation	SNP	T	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:108863508T>A	uc001vqn.2	-	2	382	c.109A>T	c.(109-111)AGA>TGA	p.R37*	LIG4_uc001vqo.2_Nonsense_Mutation_p.R37*|LIG4_uc010agg.1_5'UTR|LIG4_uc010agf.2_Nonsense_Mutation_p.R37*|LIG4_uc001vqp.2_Nonsense_Mutation_p.R37*	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	37					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)												NHEJ					---	---	---	---	capture		Nonsense_Mutation	SNP	108863508	108863508	9109	13	T	A	A	55	55	LIG4	A	5	4
MYO16	23026	broad.mit.edu	37	13	109859134	109859134	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:109859134G>T	uc001vqt.1	+	35	5653	c.5527G>T	c.(5527-5529)GGG>TGG	p.G1843W	MYO16_uc010agk.1_Missense_Mutation_p.G1865W	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1843					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)															---	---	---	---	capture		Missense_Mutation	SNP	109859134	109859134	10459	13	G	T	T	35	35	MYO16	T	2	2
OR4M1	441670	broad.mit.edu	37	14	20248579	20248579	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20248579C>A	uc010tku.1	+	1	98	c.98C>A	c.(97-99)TCC>TAC	p.S33Y		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	33	Helical; Name=1; (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	20248579	20248579	11485	14	C	A	A	30	30	OR4M1	A	2	2
TEP1	7011	broad.mit.edu	37	14	20849493	20849493	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20849493C>A	uc001vxe.2	-	32	4666	c.4626G>T	c.(4624-4626)CTG>CTT	p.L1542L	TEP1_uc010ahk.2_Silent_p.L885L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.L1434L|TEP1_uc010tlh.1_5'UTR	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1542					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---	capture		Silent	SNP	20849493	20849493	16286	14	C	A	A	21	21	TEP1	A	2	2
RNASE12	493901	broad.mit.edu	37	14	21058511	21058511	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21058511G>T	uc001vxt.2	-	1	472	c.372C>A	c.(370-372)TCC>TCA	p.S124S	RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_5'Flank	NM_001024822	NP_001019993	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	124						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)														---	---	---	---	capture		Silent	SNP	21058511	21058511	13879	14	G	T	T	43	43	RNASE12	T	2	2
CDH24	64403	broad.mit.edu	37	14	23519129	23519129	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23519129C>T	uc001wil.2	-	10	1761	c.1501G>A	c.(1501-1503)GTG>ATG	p.V501M	CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Missense_Mutation_p.V463M	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	501	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)														---	---	---	---	capture		Missense_Mutation	SNP	23519129	23519129	3238	14	C	T	T	19	19	CDH24	T	1	1
C14orf119	55017	broad.mit.edu	37	14	23566976	23566976	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23566976C>A	uc001wiu.2	+	2	151	c.109C>A	c.(109-111)CAG>AAG	p.Q37K	ACIN1_uc001wit.3_5'Flank|ACIN1_uc010akg.2_5'Flank|ACIN1_uc010tnj.1_5'Flank	NM_017924	NP_060394	Q9NWQ9	CN119_HUMAN	chromosome 14 open reading frame 119	37											0	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00649)														---	---	---	---	capture		Missense_Mutation	SNP	23566976	23566976	1790	14	C	A	A	21	21	C14orf119	A	2	2
PRKD1	5587	broad.mit.edu	37	14	30068938	30068938	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:30068938C>G	uc001wqh.2	-	14	2172	c.1991G>C	c.(1990-1992)GGA>GCA	p.G664A		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	664	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)														---	---	---	---	capture		Missense_Mutation	SNP	30068938	30068938	12961	14	C	G	G	30	30	PRKD1	G	3	3
LRFN5	145581	broad.mit.edu	37	14	42357069	42357069	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:42357069C>A	uc001wvm.2	+	3	2439	c.1241C>A	c.(1240-1242)ACT>AAT	p.T414N	LRFN5_uc010ana.2_Missense_Mutation_p.T414N	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	414	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)											HNSCC(30;0.082)			---	---	---	---	capture		Missense_Mutation	SNP	42357069	42357069	9314	14	C	A	A	20	20	LRFN5	A	2	2
ABHD12B	145447	broad.mit.edu	37	14	51355590	51355590	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51355590G>T	uc001wys.2	+	9	764	c.749G>T	c.(748-750)TGG>TTG	p.W250L	ABHD12B_uc001wyq.2_Missense_Mutation_p.W143L|ABHD12B_uc001wyr.2_Missense_Mutation_p.W173L|ABHD12B_uc010any.2_RNA	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B isoform b	250							hydrolase activity			breast(1)	1	all_epithelial(31;0.00481)|Breast(41;0.148)																	---	---	---	---	capture		Missense_Mutation	SNP	51355590	51355590	78	14	G	T	T	47	47	ABHD12B	T	2	2
PLEK2	26499	broad.mit.edu	37	14	67862183	67862183	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67862183C>A	uc001xjh.1	-	3	377	c.325G>T	c.(325-327)GGG>TGG	p.G109W		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	109					actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				ovary(1)|pancreas(1)	2				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)														---	---	---	---	capture		Missense_Mutation	SNP	67862183	67862183	12480	14	C	A	A	22	22	PLEK2	A	2	2
PCNX	22990	broad.mit.edu	37	14	71444673	71444673	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71444673G>T	uc001xmo.2	+	6	2065	c.1619G>T	c.(1618-1620)GGG>GTG	p.G540V	PCNX_uc001xmn.3_Missense_Mutation_p.G540V|PCNX_uc010are.1_Missense_Mutation_p.G540V	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	540						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)														---	---	---	---	capture		Missense_Mutation	SNP	71444673	71444673	12011	14	G	T	T	43	43	PCNX	T	2	2
AHNAK2	113146	broad.mit.edu	37	14	105412696	105412696	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105412696G>T	uc010axc.1	-	7	9212	c.9092C>A	c.(9091-9093)CCC>CAC	p.P3031H	AHNAK2_uc001ypx.2_Missense_Mutation_p.P2931H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3031						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	105412696	105412696	418	14	G	T	T	43	43	AHNAK2	T	2	2
GPR132	29933	broad.mit.edu	37	14	105518036	105518036	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105518036G>T	uc001yqd.2	-	4	1337	c.438C>A	c.(436-438)TAC>TAA	p.Y146*	GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Nonsense_Mutation_p.Y137*	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	146	Cytoplasmic (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)														---	---	---	---	capture		Nonsense_Mutation	SNP	105518036	105518036	6916	14	G	T	T	40	40	GPR132	T	5	1
GATM	2628	broad.mit.edu	37	15	45661570	45661570	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45661570G>T	uc001zvc.2	-	3	767	c.438C>A	c.(436-438)CCC>CCA	p.P146P	GATM_uc001zvb.2_Silent_p.P17P|GATM_uc010uev.1_Silent_p.P199P	NM_001482	NP_001473	P50440	GATM_HUMAN	L-arginine:glycine amidinotransferase precursor	146					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding				0		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)													---	---	---	---	capture		Silent	SNP	45661570	45661570	6527	15	G	T	T	47	47	GATM	T	2	2
PYGO1	26108	broad.mit.edu	37	15	55838299	55838299	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55838299G>T	uc010bfl.1	-	3	1238	c.1182C>A	c.(1180-1182)ACC>ACA	p.T394T	PYGO1_uc002adf.1_Silent_p.T394T	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	394	PHD-type.				Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)														---	---	---	---	capture		Silent	SNP	55838299	55838299	13321	15	G	T	T	35	35	PYGO1	T	2	2
ALDH1A2	8854	broad.mit.edu	37	15	58256106	58256106	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:58256106G>T	uc002aex.2	-	9	1121	c.1063C>A	c.(1063-1065)CCC>ACC	p.P355T	ALDH1A2_uc002aey.2_Missense_Mutation_p.P317T|ALDH1A2_uc010ugv.1_Missense_Mutation_p.P334T|ALDH1A2_uc010ugw.1_Missense_Mutation_p.P326T|ALDH1A2_uc002aew.2_Missense_Mutation_p.P259T	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	355					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)													---	---	---	---	capture		Missense_Mutation	SNP	58256106	58256106	494	15	G	T	T	43	43	ALDH1A2	T	2	2
ADAM10	102	broad.mit.edu	37	15	58913708	58913708	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:58913708C>A	uc002afd.1	-	11	1917	c.1473G>T	c.(1471-1473)GAG>GAT	p.E491D	ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.E190D|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.E28D	NM_001110	NP_001101	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10 precursor	491	Extracellular (Potential).|Disintegrin.				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	58913708	58913708	235	15	C	A	A	24	24	ADAM10	A	2	2
CILP	8483	broad.mit.edu	37	15	65489533	65489533	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65489533C>A	uc002aon.2	-	9	3272	c.3091G>T	c.(3091-3093)GGC>TGC	p.G1031C		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	1031					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	65489533	65489533	3563	15	C	A	A	22	22	CILP	A	2	2
TLE3	7090	broad.mit.edu	37	15	70347520	70347520	+	Silent	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:70347520G>A	uc002asm.2	-	15	2574	c.1455C>T	c.(1453-1455)CAC>CAT	p.H485H	TLE3_uc002ask.2_Silent_p.H412H|TLE3_uc002asl.2_Silent_p.H485H|TLE3_uc010ukd.1_Silent_p.H475H|TLE3_uc010bik.1_Silent_p.H66H|TLE3_uc010bil.1_Silent_p.H482H|TLE3_uc002asn.2_Silent_p.H473H|TLE3_uc002asp.2_Silent_p.H477H|TLE3_uc002aso.2_Silent_p.H480H	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	485	WD 1.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2																		---	---	---	---	capture		Silent	SNP	70347520	70347520	16470	15	G	A	A	40	40	TLE3	A	1	1
FLYWCH2	114984	broad.mit.edu	37	16	2946558	2946558	+	Silent	SNP	C	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2946558C>T	uc002csa.2	+	3	479	c.108C>T	c.(106-108)CCC>CCT	p.P36P	FLYWCH2_uc010uwj.1_Silent_p.P36P|FLYWCH2_uc010uwk.1_Silent_p.P36P	NM_138439	NP_612448	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	36											0																		---	---	---	---	capture		Silent	SNP	2946558	2946558	6190	16	C	T	T	21	21	FLYWCH2	T	2	2
CIITA	4261	broad.mit.edu	37	16	10996609	10996609	+	Nonsense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:10996609G>A	uc002dai.3	+	8	856	c.723G>A	c.(721-723)TGG>TGA	p.W241*	CIITA_uc002daj.3_Nonsense_Mutation_p.W242*|CIITA_uc002dak.3_Nonsense_Mutation_p.W192*|CIITA_uc002dag.2_Nonsense_Mutation_p.W241*|CIITA_uc002dah.2_Nonsense_Mutation_p.W193*|CIITA_uc010bup.1_Nonsense_Mutation_p.W241*	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	241					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1								T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								---	---	---	---	capture		Nonsense_Mutation	SNP	10996609	10996609	3562	16	G	A	A	42	42	CIITA	A	5	2
RRN3	54700	broad.mit.edu	37	16	15180227	15180227	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15180227T>C	uc002dde.2	-	4	405	c.337A>G	c.(337-339)ATA>GTA	p.I113V	PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Missense_Mutation_p.I14V|RRN3_uc010uzq.1_Intron|RRN3_uc002ddf.1_Missense_Mutation_p.I113V	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor	113					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	15180227	15180227	14164	16	T	C	C	49	49	RRN3	C	4	4
ANKS4B	257629	broad.mit.edu	37	16	21245162	21245162	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21245162C>A	uc010bwp.1	+	1	147	c.104C>A	c.(103-105)CCT>CAT	p.P35H		NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	35	ANK 1.									ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0565)														---	---	---	---	capture		Missense_Mutation	SNP	21245162	21245162	699	16	C	A	A	24	24	ANKS4B	A	2	2
PLK1	5347	broad.mit.edu	37	16	23695281	23695281	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23695281G>T	uc002dlz.1	+	5	960	c.907G>T	c.(907-909)GAG>TAG	p.E303*		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	303	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		Nonsense_Mutation	SNP	23695281	23695281	12520	16	G	T	T	37	37	PLK1	T	5	1
SRCAP	10847	broad.mit.edu	37	16	30745064	30745064	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30745064C>A	uc002dze.1	+	29	6824	c.6439C>A	c.(6439-6441)CAG>AAG	p.Q2147K	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.Q1942K	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2147	Helicase C-terminal.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)															---	---	---	---	capture		Missense_Mutation	SNP	30745064	30745064	15649	16	C	A	A	29	29	SRCAP	A	2	2
FAM192A	80011	broad.mit.edu	37	16	57207687	57207687	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57207687C>A	uc010vhk.1	-	2	339	c.80G>T	c.(79-81)AGG>ATG	p.R27M	FAM192A_uc002ekz.3_Missense_Mutation_p.R27M|FAM192A_uc002ekv.3_Translation_Start_Site|FAM192A_uc002ekw.3_Missense_Mutation_p.R27M|FAM192A_uc002ekx.3_Missense_Mutation_p.R27M|FAM192A_uc002eky.3_Missense_Mutation_p.R27M|FAM192A_uc010ccx.2_Missense_Mutation_p.R27M	NM_024946	NP_079222	Q9GZU8	F192A_HUMAN	NEFA-interacting nuclear protein NIP30	27						nucleus					0																		---	---	---	---	capture		Missense_Mutation	SNP	57207687	57207687	5734	16	C	A	A	24	24	FAM192A	A	2	2
C16orf46	123775	broad.mit.edu	37	16	81095374	81095374	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81095374G>T	uc002fgc.3	-	4	839	c.580C>A	c.(580-582)CAC>AAC	p.H194N	C16orf46_uc010chf.2_Missense_Mutation_p.H194N|C16orf46_uc010vno.1_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46 isoform 2	194											0																		---	---	---	---	capture		Missense_Mutation	SNP	81095374	81095374	1867	16	G	T	T	47	47	C16orf46	T	2	2
JPH3	57338	broad.mit.edu	37	16	87723839	87723839	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:87723839C>T	uc002fkd.2	+	4	2127	c.1873C>T	c.(1873-1875)CCC>TCC	p.P625S	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	625	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)														---	---	---	---	capture		Missense_Mutation	SNP	87723839	87723839	8266	16	C	T	T	30	30	JPH3	T	2	2
ZC3H18	124245	broad.mit.edu	37	16	88694420	88694420	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88694420G>T	uc002fky.2	+	15	2562	c.2362G>T	c.(2362-2364)GGG>TGG	p.G788W	ZC3H18_uc010voz.1_Missense_Mutation_p.G812W|ZC3H18_uc010chw.2_Intron|ZC3H18_uc002fkz.2_Missense_Mutation_p.G58W	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	788						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)														---	---	---	---	capture		Missense_Mutation	SNP	88694420	88694420	18156	16	G	T	T	43	43	ZC3H18	T	2	2
PRPF8	10594	broad.mit.edu	37	17	1579567	1579567	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1579567G>T	uc002fte.2	-	17	2600	c.2486C>A	c.(2485-2487)CCA>CAA	p.P829Q		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	829						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)														---	---	---	---	capture		Missense_Mutation	SNP	1579567	1579567	13018	17	G	T	T	47	47	PRPF8	T	2	2
NLRP1	22861	broad.mit.edu	37	17	5421068	5421068	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5421068G>T	uc002gci.2	-	15	4610	c.4055C>A	c.(4054-4056)CCA>CAA	p.P1352Q	NLRP1_uc002gcg.1_Missense_Mutation_p.P1356Q|NLRP1_uc002gck.2_Missense_Mutation_p.P1308Q|NLRP1_uc002gcj.2_Missense_Mutation_p.P1322Q|NLRP1_uc002gcl.2_Missense_Mutation_p.P1278Q|NLRP1_uc002gch.3_Missense_Mutation_p.P1308Q	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	1352					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)																---	---	---	---	capture		Missense_Mutation	SNP	5421068	5421068	10874	17	G	T	T	47	47	NLRP1	T	2	2
NEURL4	84461	broad.mit.edu	37	17	7224163	7224163	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7224163C>A	uc002gga.1	-	21	3447	c.3440G>T	c.(3439-3441)GGG>GTG	p.G1147V	NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Missense_Mutation_p.G1145V	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	1147	NHR 6.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	7224163	7224163	10747	17	C	A	A	22	22	NEURL4	A	2	2
TP53	7157	broad.mit.edu	37	17	7578407	7578407	+	Missense_Mutation	SNP	G	C	C	rs138729528		TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578407G>C	uc002gim.2	-	5	717	c.523C>G	c.(523-525)CGC>GGC	p.R175G	TP53_uc002gig.1_Missense_Mutation_p.R175G|TP53_uc002gih.2_Missense_Mutation_p.R175G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43G|TP53_uc010cng.1_Missense_Mutation_p.R43G|TP53_uc002gii.1_Missense_Mutation_p.R43G|TP53_uc010cnh.1_Missense_Mutation_p.R175G|TP53_uc010cni.1_Missense_Mutation_p.R175G|TP53_uc002gij.2_Missense_Mutation_p.R175G|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82G|TP53_uc002gio.2_Missense_Mutation_p.R43G|TP53_uc010vug.1_Missense_Mutation_p.R136G	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(721)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)			111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---	capture		Missense_Mutation	SNP	7578407	7578407	16923	17	G	C	C	38	38	TP53	C	3	3
SCO1	6341	broad.mit.edu	37	17	10596167	10596167	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10596167C>A	uc002gmr.3	-	3	537	c.476G>T	c.(475-477)TGG>TTG	p.W159L	SCO1_uc002gms.3_Intron	NM_004589	NP_004580	O75880	SCO1_HUMAN	cytochrome oxidase deficient homolog 1	159					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	10596167	10596167	14413	17	C	A	A	21	21	SCO1	A	2	2
CDRT1	374286	broad.mit.edu	37	17	15522532	15522532	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:15522532C>A	uc002gov.3	-	1	487	c.295G>T	c.(295-297)GGG>TGG	p.G99W	TRIM16_uc002gor.1_Intron	NM_006382	NP_006373	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	99											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)														---	---	---	---	capture		Missense_Mutation	SNP	15522532	15522532	3303	17	C	A	A	22	22	CDRT1	A	2	2
MYO15A	51168	broad.mit.edu	37	17	18023401	18023401	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18023401G>A	uc010vxh.1	+	2	1625	c.1287G>A	c.(1285-1287)ATG>ATA	p.M429I		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	429	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)																	---	---	---	---	capture		Missense_Mutation	SNP	18023401	18023401	10458	17	G	A	A	47	47	MYO15A	A	2	2
FLII	2314	broad.mit.edu	37	17	18151955	18151955	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18151955G>T	uc002gsr.1	-	18	2150	c.2099C>A	c.(2098-2100)CCA>CAA	p.P700Q	FLII_uc002gsq.1_Missense_Mutation_p.P571Q|FLII_uc010cpy.1_Missense_Mutation_p.P689Q|FLII_uc010vxn.1_Missense_Mutation_p.P669Q|FLII_uc010vxo.1_Missense_Mutation_p.P645Q|FLII_uc002gss.1_Missense_Mutation_p.P699Q	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	700	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)															OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	18151955	18151955	6163	17	G	T	T	47	47	FLII	T	2	2
SMCR7	125170	broad.mit.edu	37	17	18166537	18166537	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18166537C>A	uc002gst.2	+	3	496	c.285C>A	c.(283-285)CCC>CCA	p.P95P	SMCR7_uc002gsu.2_Silent_p.P95P|SMCR7_uc010vxq.1_Silent_p.P106P	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	95						integral to membrane	protein binding				0	all_neural(463;0.228)																	---	---	---	---	capture		Silent	SNP	18166537	18166537	15288	17	C	A	A	24	24	SMCR7	A	2	2
CCDC144NL	339184	broad.mit.edu	37	17	20799191	20799191	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:20799191C>A	uc002gyf.2	-	1	263	c.143G>T	c.(142-144)GGC>GTC	p.G48V	uc002gyg.1_Intron|uc002gyh.1_Intron	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family,	48											0																		---	---	---	---	capture		Missense_Mutation	SNP	20799191	20799191	2899	17	C	A	A	26	26	CCDC144NL	A	2	2
MMP28	79148	broad.mit.edu	37	17	34100371	34100371	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34100371C>A	uc002hjy.1	-	4	676	c.417G>T	c.(415-417)CTG>CTT	p.L139L	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	139					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)														---	---	---	---	capture		Silent	SNP	34100371	34100371	10056	17	C	A	A	21	21	MMP28	A	2	2
KRT35	3886	broad.mit.edu	37	17	39635133	39635133	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39635133G>T	uc002hws.2	-	4	869	c.826C>A	c.(826-828)CTG>ATG	p.L276M		NM_002280	NP_002271	Q92764	KRT35_HUMAN	keratin 35	276	Rod.|Coil 2.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			ovary(1)|skin(1)	2		Breast(137;0.000286)																---	---	---	---	capture		Missense_Mutation	SNP	39635133	39635133	8787	17	G	T	T	35	35	KRT35	T	2	2
KRT9	3857	broad.mit.edu	37	17	39724766	39724766	+	Silent	SNP	G	T	T	rs139934315		TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39724766G>T	uc002hxe.3	-	5	1230	c.1164C>A	c.(1162-1164)CTC>CTA	p.L388L	JUP_uc010wfs.1_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	keratin 9	388	Rod.|Coil 2.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Breast(137;0.000307)																---	---	---	---	capture		Silent	SNP	39724766	39724766	8816	17	G	T	T	45	45	KRT9	T	2	2
AARSD1	80755	broad.mit.edu	37	17	41103875	41103875	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41103875C>G	uc002icc.2	-	11	1048	c.1045G>C	c.(1045-1047)GGT>CGT	p.G349R	AARSD1_uc002icd.2_Missense_Mutation_p.G462R|AARSD1_uc002ice.2_Missense_Mutation_p.G432R|AARSD1_uc002icf.2_Missense_Mutation_p.G523R|AARSD1_uc010whg.1_Missense_Mutation_p.G523R	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	349					alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)														---	---	---	---	capture		Missense_Mutation	SNP	41103875	41103875	22	17	C	G	G	24	24	AARSD1	G	3	3
OR4D2	124538	broad.mit.edu	37	17	56247485	56247485	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56247485A>C	uc010wnp.1	+	1	469	c.469A>C	c.(469-471)ATT>CTT	p.I157L		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	56247485	56247485	11463	17	A	C	C	16	16	OR4D2	C	4	4
AXIN2	8313	broad.mit.edu	37	17	63530121	63530121	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:63530121C>A	uc002jfi.2	-	10	2603	c.2314G>T	c.(2314-2316)GGG>TGG	p.G772W	AXIN2_uc002jfh.2_Missense_Mutation_p.G707W	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	772	DIX.				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2														Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	63530121	63530121	1258	17	C	A	A	21	21	AXIN2	A	2	2
TBC1D16	125058	broad.mit.edu	37	17	77925290	77925290	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77925290G>T	uc002jxj.2	-	5	1164	c.1048C>A	c.(1048-1050)CAG>AAG	p.Q350K	TBC1D16_uc002jxh.2_5'Flank|TBC1D16_uc002jxi.2_5'Flank|TBC1D16_uc002jxk.1_5'Flank	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	350						intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)															---	---	---	---	capture		Missense_Mutation	SNP	77925290	77925290	16127	17	G	T	T	47	47	TBC1D16	T	2	2
METTL4	64863	broad.mit.edu	37	18	2539011	2539011	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:2539011C>A	uc002klh.3	-	9	2187	c.1407G>T	c.(1405-1407)GAG>GAT	p.E469D	METTL4_uc010dkj.2_3'UTR	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	methyltransferase like 4	469					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			kidney(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	2539011	2539011	9892	18	C	A	A	20	20	METTL4	A	2	2
KLHL14	57565	broad.mit.edu	37	18	30350180	30350180	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:30350180C>A	uc002kxm.1	-	2	763	c.375G>T	c.(373-375)CTG>CTT	p.L125L		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	125	BTB.					cytosol|endoplasmic reticulum membrane				ovary(1)	1																		---	---	---	---	capture		Silent	SNP	30350180	30350180	8682	18	C	A	A	21	21	KLHL14	A	2	2
DTNA	1837	broad.mit.edu	37	18	32438301	32438301	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:32438301C>G	uc010dmn.1	+	15	1505	c.1504C>G	c.(1504-1506)CAG>GAG	p.Q502E	DTNA_uc010xbx.1_Missense_Mutation_p.Q252E|DTNA_uc002kxv.3_Missense_Mutation_p.Q445E|DTNA_uc002kxw.2_Missense_Mutation_p.Q445E|DTNA_uc010dmj.2_Missense_Mutation_p.Q442E|DTNA_uc002kxz.2_Missense_Mutation_p.Q442E|DTNA_uc002kxy.2_Missense_Mutation_p.Q442E|DTNA_uc010dml.2_Missense_Mutation_p.Q442E|DTNA_uc002kyb.3_Missense_Mutation_p.Q499E|DTNA_uc010dmm.2_Missense_Mutation_p.Q502E|DTNA_uc010xby.1_Missense_Mutation_p.Q192E|DTNA_uc010dmo.2_Missense_Mutation_p.Q124E|DTNA_uc002kyd.3_Missense_Mutation_p.Q124E|DTNA_uc010xbz.1_Missense_Mutation_p.Q211E|DTNA_uc010xca.1_Missense_Mutation_p.Q154E|DTNA_uc002kye.2_Missense_Mutation_p.Q150E	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	502	Potential.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	32438301	32438301	4973	18	C	G	G	29	29	DTNA	G	3	3
ALPK2	115701	broad.mit.edu	37	18	56149153	56149153	+	Nonsense_Mutation	SNP	T	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56149153T>A	uc002lhj.3	-	13	6629	c.6415A>T	c.(6415-6417)AAA>TAA	p.K2139*		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	2139							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14																		---	---	---	---	capture		Nonsense_Mutation	SNP	56149153	56149153	548	18	T	A	A	62	62	ALPK2	A	5	4
CDH20	28316	broad.mit.edu	37	18	59174738	59174738	+	Missense_Mutation	SNP	C	A	A	rs148517362		TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:59174738C>A	uc010dps.1	+	5	974	c.962C>A	c.(961-963)GCC>GAC	p.A321D	CDH20_uc002lif.2_Missense_Mutation_p.A315D	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	321	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)																---	---	---	---	capture		Missense_Mutation	SNP	59174738	59174738	3235	18	C	A	A	26	26	CDH20	A	2	2
MUC16	94025	broad.mit.edu	37	19	9026256	9026256	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9026256C>A	uc002mkp.2	-	14	36934	c.36730G>T	c.(36730-36732)GAG>TAG	p.E12244*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12246	SEA 2.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---	capture		Nonsense_Mutation	SNP	9026256	9026256	10367	19	C	A	A	31	31	MUC16	A	5	1
MUC16	94025	broad.mit.edu	37	19	9049969	9049969	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9049969G>T	uc002mkp.2	-	5	31866	c.31662C>A	c.(31660-31662)CCC>CCA	p.P10554P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10556	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		Silent	SNP	9049969	9049969	10367	19	G	T	T	47	47	MUC16	T	2	2
MUC16	94025	broad.mit.edu	37	19	9064313	9064313	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9064313G>T	uc002mkp.2	-	3	23337	c.23133C>A	c.(23131-23133)CCC>CCA	p.P7711P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7713	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		Silent	SNP	9064313	9064313	10367	19	G	T	T	43	43	MUC16	T	2	2
MUC16	94025	broad.mit.edu	37	19	9072230	9072230	+	Silent	SNP	G	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9072230G>C	uc002mkp.2	-	3	15420	c.15216C>G	c.(15214-15216)CTC>CTG	p.L5072L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5074	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		Silent	SNP	9072230	9072230	10367	19	G	C	C	45	45	MUC16	C	3	3
MUC16	94025	broad.mit.edu	37	19	9076811	9076811	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9076811C>A	uc002mkp.2	-	3	10839	c.10635G>T	c.(10633-10635)ATG>ATT	p.M3545I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3546	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	9076811	9076811	10367	19	C	A	A	21	21	MUC16	A	2	2
ZNF625	90589	broad.mit.edu	37	19	12256633	12256633	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12256633A>C	uc002mth.2	-	4	750	c.400T>G	c.(400-402)TTG>GTG	p.L134V	ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.L168V	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	zinc finger protein 625	134	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	12256633	12256633	18644	19	A	C	C	3	3	ZNF625	C	4	4
MAN2B1	4125	broad.mit.edu	37	19	12769115	12769115	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12769115G>T	uc002mub.2	-	9	1229	c.1153C>A	c.(1153-1155)CAC>AAC	p.H385N	MAN2B1_uc010dyv.1_Missense_Mutation_p.H384N	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	385					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---	capture		Missense_Mutation	SNP	12769115	12769115	9599	19	G	T	T	47	47	MAN2B1	T	2	2
FBXW9	84261	broad.mit.edu	37	19	12800824	12800824	+	Silent	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12800824G>A	uc010dyx.2	-	6	1044	c.1044C>T	c.(1042-1044)ACC>ACT	p.T348T	FBXW9_uc010xmp.1_RNA|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Silent_p.T328T|FBXW9_uc002mun.1_Silent_p.T165T	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	358	WD 4.						protein binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	12800824	12800824	6008	19	G	A	A	43	43	FBXW9	A	2	2
OR7A17	26333	broad.mit.edu	37	19	14991543	14991543	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14991543C>G	uc010xob.1	-	1	625	c.625G>C	c.(625-627)GGT>CGT	p.G209R		NM_030901	NP_112163	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)																	---	---	---	---	capture		Missense_Mutation	SNP	14991543	14991543	11626	19	C	G	G	21	21	OR7A17	G	3	3
MYO9B	4650	broad.mit.edu	37	19	17311513	17311513	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17311513G>T	uc010eak.2	+	26	4590	c.4438G>T	c.(4438-4440)GGG>TGG	p.G1480W	MYO9B_uc002nfi.2_Missense_Mutation_p.G1480W|MYO9B_uc002nfj.1_Missense_Mutation_p.G1480W|MYO9B_uc002nfl.1_Missense_Mutation_p.G29W	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1480	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	17311513	17311513	10480	19	G	T	T	35	35	MYO9B	T	2	2
LPAR2	9170	broad.mit.edu	37	19	19735130	19735130	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19735130C>A	uc002nnb.3	-	3	1130	c.991G>T	c.(991-993)GGA>TGA	p.G331*	LPAR2_uc002nna.3_Nonsense_Mutation_p.G331*|LPAR2_uc002nnc.3_Nonsense_Mutation_p.G331*	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	331	Cytoplasmic (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			ovary(1)|breast(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	19735130	19735130	9278	19	C	A	A	22	22	LPAR2	A	5	2
ZNF536	9745	broad.mit.edu	37	19	30935742	30935742	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30935742A>T	uc002nsu.1	+	2	1411	c.1273A>T	c.(1273-1275)AAC>TAC	p.N425Y	ZNF536_uc010edd.1_Missense_Mutation_p.N425Y	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)																	---	---	---	---	capture		Missense_Mutation	SNP	30935742	30935742	18568	19	A	T	T	5	5	ZNF536	T	4	4
SPTBN4	57731	broad.mit.edu	37	19	41071430	41071430	+	Missense_Mutation	SNP	G	C	C	rs139699793	byFrequency	TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41071430G>C	uc002ony.2	+	28	6103	c.6017G>C	c.(6016-6018)CGA>CCA	p.R2006P	SPTBN4_uc002onz.2_Missense_Mutation_p.R2006P|SPTBN4_uc010egx.2_Missense_Mutation_p.R749P	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	2006	Spectrin 17.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)															---	---	---	---	capture		Missense_Mutation	SNP	41071430	41071430	15635	19	G	C	C	37	37	SPTBN4	C	3	3
ZNF234	10780	broad.mit.edu	37	19	44660428	44660428	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44660428G>T	uc002oym.2	+	6	566	c.259G>T	c.(259-261)GAG>TAG	p.E87*	ZNF234_uc002oyl.3_Nonsense_Mutation_p.E87*	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	87	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)																---	---	---	---	capture		Nonsense_Mutation	SNP	44660428	44660428	18378	19	G	T	T	41	41	ZNF234	T	5	2
POLD1	5424	broad.mit.edu	37	19	50909578	50909578	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50909578A>T	uc002psb.3	+	11	1438	c.1382A>T	c.(1381-1383)CAG>CTG	p.Q461L	POLD1_uc002psc.3_Missense_Mutation_p.Q461L|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.Q461L	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	461					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)									DNA_polymerases_(catalytic_subunits)					---	---	---	---	capture		Missense_Mutation	SNP	50909578	50909578	12618	19	A	T	T	7	7	POLD1	T	4	4
KLK1	3816	broad.mit.edu	37	19	51326971	51326971	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51326971G>T	uc002ptk.1	-	1	73	c.34C>A	c.(34-36)CTG>ATG	p.L12M	KLK1_uc010ycg.1_RNA	NM_002257	NP_002248	P06870	KLK1_HUMAN	kallikrein 1 preproprotein	12					proteolysis	nucleus	serine-type endopeptidase activity				0		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---	capture		Missense_Mutation	SNP	51326971	51326971	8711	19	G	T	T	35	35	KLK1	T	2	2
SIGLEC6	946	broad.mit.edu	37	19	52023372	52023372	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52023372G>T	uc002pwy.2	-	8	1488	c.1326C>A	c.(1324-1326)ACC>ACA	p.T442T	SIGLEC6_uc002pwz.2_Silent_p.T426T|SIGLEC6_uc002pxa.2_3'UTR|SIGLEC6_uc010ydb.1_Silent_p.T379T|SIGLEC6_uc010ydc.1_3'UTR|SIGLEC6_uc010eoz.1_3'UTR	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	442	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)														---	---	---	---	capture		Silent	SNP	52023372	52023372	14807	19	G	T	T	39	39	SIGLEC6	T	1	1
LILRA6	79168	broad.mit.edu	37	19	54744195	54744195	+	Missense_Mutation	SNP	G	T	T	rs74451812	by1000genomes	TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54744195G>T	uc002qeu.1	-	6	1337	c.1213C>A	c.(1213-1215)CAC>AAC	p.H405N	LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.H405N|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.H405N|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.H405N|LILRA6_uc010yeq.1_Missense_Mutation_p.H405N|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.H266N	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor,	405	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane	receptor activity			skin(2)	2	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---	capture		Missense_Mutation	SNP	54744195	54744195	9115	19	G	T	T	47	47	LILRA6	T	2	2
GP6	51206	broad.mit.edu	37	19	55539070	55539070	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55539070C>A	uc002qik.2	-	4	514	c.486G>T	c.(484-486)AGG>AGT	p.R162S	GP6_uc002qil.2_Missense_Mutation_p.R162S|GP6_uc010esq.2_Missense_Mutation_p.R162S|RDH13_uc010esr.1_RNA	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet) isoform 2	162	Ig-like C2-type 2.|Extracellular (Potential).				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)														---	---	---	---	capture		Missense_Mutation	SNP	55539070	55539070	6858	19	C	A	A	22	22	GP6	A	2	2
NLRP9	338321	broad.mit.edu	37	19	56244186	56244186	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56244186G>T	uc002qly.2	-	2	1039	c.1011C>A	c.(1009-1011)CCC>CCA	p.P337P		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	337	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		Silent	SNP	56244186	56244186	10887	19	G	T	T	35	35	NLRP9	T	2	2
ZNF552	79818	broad.mit.edu	37	19	58320261	58320261	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58320261C>A	uc002qqg.2	-	3	541	c.371G>T	c.(370-372)TGG>TTG	p.W124L	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Missense_Mutation_p.W120L	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	124	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)														---	---	---	---	capture		Missense_Mutation	SNP	58320261	58320261	18579	19	C	A	A	21	21	ZNF552	A	2	2
NBAS	51594	broad.mit.edu	37	2	15468406	15468406	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:15468406C>A	uc002rcc.1	-	37	4404	c.4378G>T	c.(4378-4380)GGA>TGA	p.G1460*	NBAS_uc010exl.1_Nonsense_Mutation_p.G532*|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1460										ovary(2)|liver(1)|skin(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	15468406	15468406	10582	2	C	A	A	23	23	NBAS	A	5	1
AGBL5	60509	broad.mit.edu	37	2	27293104	27293104	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27293104C>A	uc002rie.2	+	15	2851	c.2634C>A	c.(2632-2634)CCC>CCA	p.P878P	AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	878					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---	capture		Silent	SNP	27293104	27293104	381	2	C	A	A	22	22	AGBL5	A	2	2
C2orf16	84226	broad.mit.edu	37	2	27800184	27800184	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27800184G>T	uc002rkz.3	+	1	796	c.745G>T	c.(745-747)GGG>TGG	p.G249W		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	249										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	27800184	27800184	2243	2	G	T	T	43	43	C2orf16	T	2	2
THUMPD2	80745	broad.mit.edu	37	2	39963957	39963957	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39963957G>T	uc002rru.2	-	10	1467	c.1430C>A	c.(1429-1431)CCA>CAA	p.P477Q	THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.P368Q	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	477							methyltransferase activity			skin(1)	1		all_hematologic(82;0.248)																---	---	---	---	capture		Missense_Mutation	SNP	39963957	39963957	16411	2	G	T	T	47	47	THUMPD2	T	2	2
USP34	9736	broad.mit.edu	37	2	61441365	61441365	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61441365G>T	uc002sbe.2	-	68	8534	c.8512C>A	c.(8512-8514)CAT>AAT	p.H2838N		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2838					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---	capture		Missense_Mutation	SNP	61441365	61441365	17629	2	G	T	T	47	47	USP34	T	2	2
PCYOX1	51449	broad.mit.edu	37	2	70485371	70485371	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70485371C>A	uc002sgn.3	+	1	141	c.75C>A	c.(73-75)CCC>CCA	p.P25P	PCYOX1_uc010fdo.2_Intron|PCYOX1_uc010yqu.1_Silent_p.P25P	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1 precursor	25					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	70485371	70485371	12029	2	C	A	A	23	23	PCYOX1	A	1	1
REG1A	5967	broad.mit.edu	37	2	79350303	79350303	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:79350303G>A	uc002snz.2	+	6	566	c.463G>A	c.(463-465)GAA>AAA	p.E155K	REG1A_uc010ysd.1_Missense_Mutation_p.E155K	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	155	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	79350303	79350303	13679	2	G	A	A	45	45	REG1A	A	2	2
GPR17	2840	broad.mit.edu	37	2	128408589	128408589	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128408589G>T	uc010yzn.1	+	4	975	c.364G>T	c.(364-366)GGG>TGG	p.G122W	LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.G122W|GPR17_uc010yzo.1_Missense_Mutation_p.G94W|GPR17_uc002tpd.2_Missense_Mutation_p.G94W	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN	G protein-coupled receptor 17 isoform a	122	Extracellular (Potential).					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)														---	---	---	---	capture		Missense_Mutation	SNP	128408589	128408589	6942	2	G	T	T	47	47	GPR17	T	2	2
LRP1B	53353	broad.mit.edu	37	2	141291599	141291599	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141291599C>A	uc002tvj.1	-	47	8725	c.7753G>T	c.(7753-7755)GAT>TAT	p.D2585Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2585	Extracellular (Potential).|LDL-receptor class A 12.				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	141291599	141291599	9328	2	C	A	A	32	32	LRP1B	A	2	2
RBMS1	5937	broad.mit.edu	37	2	161141535	161141535	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:161141535G>T	uc002ubo.2	-	8	1221	c.777C>A	c.(775-777)TAC>TAA	p.Y259*	RBMS1_uc002ubj.2_Nonsense_Mutation_p.Y223*|RBMS1_uc002ubk.2_Nonsense_Mutation_p.Y223*|RBMS1_uc002ubl.2_Nonsense_Mutation_p.Y254*|RBMS1_uc002ubn.2_Nonsense_Mutation_p.Y256*|RBMS1_uc002ubi.3_Nonsense_Mutation_p.Y256*|RBMS1_uc002ubm.2_Nonsense_Mutation_p.Y226*|RBMS1_uc002ubp.2_Nonsense_Mutation_p.Y259*|RBMS1_uc010fox.2_Nonsense_Mutation_p.Y259*	NM_016836	NP_058520	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting	259					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	161141535	161141535	13610	2	G	T	T	40	40	RBMS1	T	5	1
XIRP2	129446	broad.mit.edu	37	2	168100313	168100313	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168100313G>T	uc002udx.2	+	8	2429	c.2411G>T	c.(2410-2412)GGG>GTG	p.G804V	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G629V|XIRP2_uc010fpq.2_Missense_Mutation_p.G582V|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	629	Xin 8.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---	capture		Missense_Mutation	SNP	168100313	168100313	18011	2	G	T	T	43	43	XIRP2	T	2	2
XIRP2	129446	broad.mit.edu	37	2	168108054	168108054	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168108054G>T	uc002udx.2	+	8	10170	c.10152G>T	c.(10150-10152)ACG>ACT	p.T3384T	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T3209T|XIRP2_uc010fpq.2_Silent_p.T3162T|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3209					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---	capture		Silent	SNP	168108054	168108054	18011	2	G	T	T	37	37	XIRP2	T	1	1
ABCB11	8647	broad.mit.edu	37	2	169780238	169780238	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169780238G>T	uc002ueo.1	-	28	3986	c.3860C>A	c.(3859-3861)GCT>GAT	p.A1287D	ABCB11_uc010zda.1_Missense_Mutation_p.A705D|ABCB11_uc010zdb.1_Missense_Mutation_p.A763D	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	1287	Cytoplasmic (Potential).|ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)													---	---	---	---	capture		Missense_Mutation	SNP	169780238	169780238	43	2	G	T	T	34	34	ABCB11	T	2	2
CDCA7	83879	broad.mit.edu	37	2	174230295	174230295	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:174230295G>A	uc002uid.1	+	6	904	c.773G>A	c.(772-774)CGA>CAA	p.R258Q	CDCA7_uc002uic.1_Missense_Mutation_p.R337Q|CDCA7_uc010zej.1_Missense_Mutation_p.R293Q|CDCA7_uc010zek.1_Missense_Mutation_p.R216Q	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7 isoform 2	258	Mediates transcriptional activity.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.116)															---	---	---	---	capture		Missense_Mutation	SNP	174230295	174230295	3219	2	G	A	A	37	37	CDCA7	A	1	1
TTC30A	92104	broad.mit.edu	37	2	178482680	178482680	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178482680C>A	uc002ulo.2	-	1	1015	c.750G>T	c.(748-750)CTG>CTT	p.L250L		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	250					cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)															---	---	---	---	capture		Silent	SNP	178482680	178482680	17253	2	C	A	A	21	21	TTC30A	A	2	2
TTN	7273	broad.mit.edu	37	2	179411391	179411391	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179411391A>T	uc010zfg.1	-	290	87284	c.87060T>A	c.(87058-87060)AAT>AAA	p.N29020K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N22715K|TTN_uc010zfi.1_Missense_Mutation_p.N22648K|TTN_uc010zfj.1_Missense_Mutation_p.N22523K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29947							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	179411391	179411391	17290	2	A	T	T	8	8	TTN	T	4	4
TTN	7273	broad.mit.edu	37	2	179457260	179457260	+	Silent	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179457260G>A	uc010zfg.1	-	250	51992	c.51768C>T	c.(51766-51768)GAC>GAT	p.D17256D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D10951D|TTN_uc010zfi.1_Silent_p.D10884D|TTN_uc010zfj.1_Silent_p.D10759D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18183							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	179457260	179457260	17290	2	G	A	A	48	48	TTN	A	2	2
HECW2	57520	broad.mit.edu	37	2	197090571	197090571	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197090571A>T	uc002utm.1	-	23	4124	c.3941T>A	c.(3940-3942)CTT>CAT	p.L1314H	HECW2_uc002utl.1_Missense_Mutation_p.L958H	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1314	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18																		---	---	---	---	capture		Missense_Mutation	SNP	197090571	197090571	7326	2	A	T	T	3	3	HECW2	T	4	4
NRP2	8828	broad.mit.edu	37	2	206562429	206562429	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206562429G>T	uc002vaw.2	+	2	1026	c.235G>T	c.(235-237)GAG>TAG	p.E79*	NRP2_uc002vat.2_Nonsense_Mutation_p.E79*|NRP2_uc002vau.2_Nonsense_Mutation_p.E79*|NRP2_uc002vav.2_Nonsense_Mutation_p.E79*|NRP2_uc002vax.2_Nonsense_Mutation_p.E79*|NRP2_uc002vay.2_Nonsense_Mutation_p.E79*|NRP2_uc010fud.2_Nonsense_Mutation_p.E79*	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	79	Extracellular (Potential).|CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	206562429	206562429	11066	2	G	T	T	37	37	NRP2	T	5	1
UNC80	285175	broad.mit.edu	37	2	210654270	210654270	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210654270C>A	uc010zjc.1	+	6	819	c.739C>A	c.(739-741)CCT>ACT	p.P247T	UNC80_uc002vdj.1_Missense_Mutation_p.P247T	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	chromosome 2 open reading frame 21 isoform 1	247						integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	210654270	210654270	17554	2	C	A	A	30	30	UNC80	A	2	2
CCDC108	255101	broad.mit.edu	37	2	219869012	219869012	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219869012C>A	uc002vjl.1	-	33	5301	c.5217G>T	c.(5215-5217)GAG>GAT	p.E1739D	uc010fvz.1_5'Flank|MIR375_hsa-mir-375|MI0000783_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1739						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---	capture		Missense_Mutation	SNP	219869012	219869012	2863	2	C	A	A	24	24	CCDC108	A	2	2
CCDC108	255101	broad.mit.edu	37	2	219886628	219886628	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219886628C>A	uc002vjl.1	-	18	3088	c.3004G>T	c.(3004-3006)GGG>TGG	p.G1002W	CCDC108_uc002vjm.3_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1002						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---	capture		Missense_Mutation	SNP	219886628	219886628	2863	2	C	A	A	21	21	CCDC108	A	2	2
SPEG	10290	broad.mit.edu	37	2	220309423	220309423	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220309423G>A	uc010fwg.2	+	2	437	c.437G>A	c.(436-438)CGC>CAC	p.R146H	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	146					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)														---	---	---	---	capture		Missense_Mutation	SNP	220309423	220309423	15548	2	G	A	A	38	38	SPEG	A	1	1
COL4A4	1286	broad.mit.edu	37	2	227924170	227924170	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227924170C>A	uc010zlt.1	-	28	2988	c.2334G>T	c.(2332-2334)GTG>GTT	p.V778V		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	778	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)														---	---	---	---	capture		Silent	SNP	227924170	227924170	3831	2	C	A	A	25	25	COL4A4	A	2	2
ATG16L1	55054	broad.mit.edu	37	2	234202917	234202917	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234202917C>A	uc002vty.2	+	18	2002	c.1745C>A	c.(1744-1746)GCG>GAG	p.A582E	ATG16L1_uc002vtx.1_Missense_Mutation_p.A419E|ATG16L1_uc002vua.2_Missense_Mutation_p.A563E|ATG16L1_uc002vub.2_Missense_Mutation_p.A440E|ATG16L1_uc002vtz.2_Missense_Mutation_p.A403E|ATG16L1_uc002vud.3_Missense_Mutation_p.A498E	NM_030803	NP_110430	Q676U5	A16L1_HUMAN	APG16 autophagy 16-like isoform 1	582	WD 7.				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding				0		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)														---	---	---	---	capture		Missense_Mutation	SNP	234202917	234202917	1110	2	C	A	A	27	27	ATG16L1	A	1	1
UGT1A9	54600	broad.mit.edu	37	2	234580705	234580705	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234580705G>T	uc002vus.2	+	1	162	c.125G>T	c.(124-126)AGG>ATG	p.R42M	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.R42M	NM_021027	NP_066307	O60656	UD19_HUMAN	UDP glycosyltransferase 1 family, polypeptide A9	42					drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(3)|breast(1)|skin(1)	5		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)													---	---	---	---	capture		Missense_Mutation	SNP	234580705	234580705	17510	2	G	T	T	35	35	UGT1A9	T	2	2
UGT1A9	54600	broad.mit.edu	37	2	234581417	234581417	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234581417G>T	uc002vus.2	+	1	874	c.837G>T	c.(835-837)CAG>CAT	p.Q279H	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.Q279H	NM_021027	NP_066307	O60656	UD19_HUMAN	UDP glycosyltransferase 1 family, polypeptide A9	279				QGKP -> ERKA (in Ref. 1; AAB19791).	drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(3)|breast(1)|skin(1)	5		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)													---	---	---	---	capture		Missense_Mutation	SNP	234581417	234581417	17510	2	G	T	T	35	35	UGT1A9	T	2	2
NRSN2	80023	broad.mit.edu	37	20	333854	333854	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:333854A>G	uc002wdi.3	+	4	728	c.190A>G	c.(190-192)ATC>GTC	p.I64V	NRSN2_uc002wdj.2_RNA|NRSN2_uc002wdl.2_Intron	NM_024958	NP_079234	Q9GZP1	NRSN2_HUMAN	neurensin 2	64						integral to membrane|plasma membrane|transport vesicle					0		all_cancers(10;0.0834)																---	---	---	---	capture		Missense_Mutation	SNP	333854	333854	11068	20	A	G	G	12	12	NRSN2	G	4	4
XRN2	22803	broad.mit.edu	37	20	21367572	21367572	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21367572G>T	uc002wsf.1	+	29	2810	c.2715G>T	c.(2713-2715)CAG>CAT	p.Q905H	XRN2_uc002wsg.1_Missense_Mutation_p.Q829H|XRN2_uc010zsk.1_Missense_Mutation_p.Q851H|XRN2_uc002wsh.1_Missense_Mutation_p.Q43H	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	905					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	21367572	21367572	18043	20	G	T	T	34	34	XRN2	T	2	2
CBFA2T2	9139	broad.mit.edu	37	20	32210981	32210981	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32210981C>A	uc002wzg.1	+	6	1135	c.598C>A	c.(598-600)CCA>ACA	p.P200T	CBFA2T2_uc010zug.1_5'UTR|CBFA2T2_uc002wze.1_Missense_Mutation_p.P191T|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Missense_Mutation_p.P171T|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	200	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	32210981	32210981	2816	20	C	A	A	22	22	CBFA2T2	A	2	2
RBM12	10137	broad.mit.edu	37	20	34241501	34241501	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34241501C>A	uc002xdq.2	-	3	1976	c.1744G>T	c.(1744-1746)GGG>TGG	p.G582W	CPNE1_uc010zvj.1_5'UTR|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.G582W|RBM12_uc002xds.2_Missense_Mutation_p.G582W	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	582						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	34241501	34241501	13574	20	C	A	A	21	21	RBM12	A	2	2
NFS1	9054	broad.mit.edu	37	20	34278366	34278366	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34278366G>T	uc002xdw.1	-	5	594	c.530C>A	c.(529-531)CCA>CAA	p.P177Q	NFS1_uc002xdt.1_Missense_Mutation_p.P117Q|NFS1_uc002xdu.1_Missense_Mutation_p.P117Q|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_5'UTR|NFS1_uc010zvl.1_Intron	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	NFS1 nitrogen fixation 1 precursor	177					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	34278366	34278366	10785	20	G	T	T	47	47	NFS1	T	2	2
C20orf4	25980	broad.mit.edu	37	20	34843645	34843645	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34843645C>A	uc002xfc.1	+	4	1226	c.1133C>A	c.(1132-1134)CCT>CAT	p.P378H	C20orf4_uc002xfd.1_Intron|C20orf4_uc002xfe.1_Missense_Mutation_p.P378H	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	378											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)																---	---	---	---	capture		Missense_Mutation	SNP	34843645	34843645	2191	20	C	A	A	24	24	C20orf4	A	2	2
PREX1	57580	broad.mit.edu	37	20	47269940	47269940	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47269940C>G	uc002xtw.1	-	20	2328	c.2305G>C	c.(2305-2307)GAG>CAG	p.E769Q	PREX1_uc002xtv.1_Missense_Mutation_p.E66Q	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	769					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)															---	---	---	---	capture		Missense_Mutation	SNP	47269940	47269940	12919	20	C	G	G	30	30	PREX1	G	3	3
NFATC2	4773	broad.mit.edu	37	20	50139908	50139908	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50139908G>T	uc002xwd.2	-	2	1092	c.872C>A	c.(871-873)CCG>CAG	p.P291Q	NFATC2_uc002xwc.2_Missense_Mutation_p.P291Q|NFATC2_uc010zyv.1_Missense_Mutation_p.P72Q|NFATC2_uc010zyw.1_Missense_Mutation_p.P72Q|NFATC2_uc010zyx.1_Missense_Mutation_p.P271Q|NFATC2_uc010zyy.1_Missense_Mutation_p.P72Q|NFATC2_uc010zyz.1_Missense_Mutation_p.P72Q|NFATC2_uc002xwe.2_Missense_Mutation_p.P271Q	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	291					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)																	---	---	---	---	capture		Missense_Mutation	SNP	50139908	50139908	10762	20	G	T	T	39	39	NFATC2	T	1	1
ZNF512B	57473	broad.mit.edu	37	20	62595205	62595205	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62595205G>T	uc002yhl.1	-	9	1596	c.1542C>A	c.(1540-1542)ACC>ACA	p.T514T		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)																	---	---	---	---	capture		Silent	SNP	62595205	62595205	18551	20	G	T	T	35	35	ZNF512B	T	2	2
TUBA8	51807	broad.mit.edu	37	22	18609318	18609318	+	Silent	SNP	C	A	A	rs150232320		TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18609318C>A	uc002znv.1	+	4	646	c.573C>A	c.(571-573)ACC>ACA	p.T191T	TUBA8_uc002znr.2_Silent_p.T125T|TUBA8_uc002znw.1_Silent_p.T215T|TUBA8_uc002znx.1_Silent_p.T38T	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	191					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0																		---	---	---	---	capture		Silent	SNP	18609318	18609318	17305	22	C	A	A	22	22	TUBA8	A	2	2
CLDN5	7122	broad.mit.edu	37	22	19511188	19511188	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19511188G>T	uc002zpu.2	-	2	1061	c.846C>A	c.(844-846)CCC>CCA	p.P282P	CLDN5_uc010grr.2_Silent_p.P282P	NM_003277	NP_003268	O00501	CLD5_HUMAN	claudin 5	197	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0	Colorectal(54;0.0993)																	---	---	---	---	capture		Silent	SNP	19511188	19511188	3625	22	G	T	T	39	39	CLDN5	T	1	1
ZNF70	7621	broad.mit.edu	37	22	24086992	24086992	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24086992G>T	uc002zxs.2	-	2	797	c.336C>A	c.(334-336)CCC>CCA	p.P112P	ZNF70_uc002zxr.1_5'Flank	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	112						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Silent	SNP	24086992	24086992	18698	22	G	T	T	47	47	ZNF70	T	2	2
MCHR1	2847	broad.mit.edu	37	22	41077182	41077182	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41077182G>T	uc003ayz.2	+	2	787	c.519G>T	c.(517-519)ATG>ATT	p.M173I	MCHR1_uc003aza.2_Missense_Mutation_p.M62I	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	173	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	41077182	41077182	9771	22	G	T	T	47	47	MCHR1	T	2	2
DNAJB7	150353	broad.mit.edu	37	22	41257160	41257160	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41257160G>T	uc003azj.2	-	1	971	c.839C>A	c.(838-840)CCT>CAT	p.P280H	XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_Intron|XPNPEP3_uc003azf.1_Intron|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	280					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	41257160	41257160	4808	22	G	T	T	35	35	DNAJB7	T	2	2
RANGAP1	5905	broad.mit.edu	37	22	41652071	41652071	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41652071C>T	uc003azs.2	-	9	2497	c.1027G>A	c.(1027-1029)GAG>AAG	p.E343K	RANGAP1_uc003azt.2_Missense_Mutation_p.E343K|RANGAP1_uc003azu.2_Missense_Mutation_p.E343K|RANGAP1_uc011aoz.1_Missense_Mutation_p.E288K	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	343	LRR 6.				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	41652071	41652071	13493	22	C	T	T	30	30	RANGAP1	T	2	2
TOB2	10766	broad.mit.edu	37	22	41833169	41833169	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41833169C>A	uc003azz.1	-	2	888	c.181G>T	c.(181-183)GGG>TGG	p.G61W		NM_016272	NP_057356	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	61					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	41833169	41833169	16889	22	C	A	A	21	21	TOB2	A	2	2
HRH1	3269	broad.mit.edu	37	3	11301422	11301422	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:11301422C>A	uc010hdr.2	+	2	1041	c.699C>A	c.(697-699)TCC>TCA	p.S233S	HRH1_uc010hds.2_Silent_p.S233S|HRH1_uc010hdt.2_Silent_p.S233S|HRH1_uc003bwb.3_Silent_p.S233S	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	233	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)													---	---	---	---	capture		Silent	SNP	11301422	11301422	7647	3	C	A	A	24	24	HRH1	A	2	2
ATG7	10533	broad.mit.edu	37	3	11402137	11402137	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:11402137G>T	uc003bwc.2	+	14	1679	c.1562G>T	c.(1561-1563)GGG>GTG	p.G521V	ATG7_uc003bwd.2_Missense_Mutation_p.G521V|ATG7_uc011aum.1_Missense_Mutation_p.G482V	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	521					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	11402137	11402137	1120	3	G	T	T	43	43	ATG7	T	2	2
TIMP4	7079	broad.mit.edu	37	3	12195893	12195893	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12195893C>A	uc003bwo.2	-	4	718	c.411G>T	c.(409-411)TGG>TGT	p.W137C	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.2_Intron|SYN2_uc003bwn.2_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	tissue inhibitor of metalloproteinase 4	137	NTR.						metal ion binding|metalloendopeptidase inhibitor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	12195893	12195893	16449	3	C	A	A	22	22	TIMP4	A	2	2
NEK10	152110	broad.mit.edu	37	3	27332856	27332856	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:27332856T>A	uc003cdt.1	-	19	1776	c.1502A>T	c.(1501-1503)GAA>GTA	p.E501V	NEK10_uc003cds.1_5'UTR	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3	501	Potential.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13																		---	---	---	---	capture		Missense_Mutation	SNP	27332856	27332856	10721	3	T	A	A	62	62	NEK10	A	4	4
GOLGA4	2803	broad.mit.edu	37	3	37292888	37292888	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37292888G>T	uc003cgv.2	+	2	379	c.75G>T	c.(73-75)GCG>GCT	p.A25A	GOLGA4_uc010hgr.1_Silent_p.A25A|GOLGA4_uc003cgw.2_Silent_p.A25A|GOLGA4_uc010hgs.2_Silent_p.A25A|GOLGA4_uc003cgu.1_Silent_p.A25A	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	25					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4																		---	---	---	---	capture		Silent	SNP	37292888	37292888	6824	3	G	T	T	40	40	GOLGA4	T	1	1
SMARCC1	6599	broad.mit.edu	37	3	47734751	47734751	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47734751C>A	uc003crq.2	-	12	1323	c.1205G>T	c.(1204-1206)GGA>GTA	p.G402V	SMARCC1_uc011bbd.1_Missense_Mutation_p.G293V	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	402					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)														---	---	---	---	capture		Missense_Mutation	SNP	47734751	47734751	15273	3	C	A	A	30	30	SMARCC1	A	2	2
PLXNB1	5364	broad.mit.edu	37	3	48456389	48456389	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48456389G>T	uc003csw.2	-	21	4298	c.4028C>A	c.(4027-4029)CCA>CAA	p.P1343Q	PLXNB1_uc003cst.2_5'Flank|PLXNB1_uc003csu.2_Missense_Mutation_p.P1160Q|PLXNB1_uc003csx.2_Missense_Mutation_p.P1343Q|PLXNB1_uc010hjx.1_RNA|PLXNB1_uc003csy.1_Missense_Mutation_p.P51Q	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1343	Extracellular (Potential).|IPT/TIG 3.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---	capture		Missense_Mutation	SNP	48456389	48456389	12549	3	G	T	T	47	47	PLXNB1	T	2	2
APEH	327	broad.mit.edu	37	3	49716296	49716296	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49716296G>T	uc003cxf.2	+	12	1472	c.1072G>T	c.(1072-1074)GGG>TGG	p.G358W	APEH_uc010hkw.1_Missense_Mutation_p.G358W	NM_001640	NP_001631	P13798	ACPH_HUMAN	N-acylaminoacyl-peptide hydrolase	358					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---	capture		Missense_Mutation	SNP	49716296	49716296	778	3	G	T	T	47	47	APEH	T	2	2
RBM5	10181	broad.mit.edu	37	3	50151525	50151525	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50151525A>G	uc003cyg.2	+	19	1908	c.1760A>G	c.(1759-1761)GAG>GGG	p.E587G	RBM5_uc011bdj.1_Missense_Mutation_p.E531G|RBM5_uc011bdk.1_Missense_Mutation_p.E415G|RBM5_uc003cyh.2_Missense_Mutation_p.E44G	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	587	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---	capture		Missense_Mutation	SNP	50151525	50151525	13605	3	A	G	G	11	11	RBM5	G	4	4
ALAS1	211	broad.mit.edu	37	3	52246415	52246415	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52246415C>A	uc003dcy.1	+	11	2078	c.1741C>A	c.(1741-1743)CAG>AAG	p.Q581K	ALAS1_uc003dcz.1_Missense_Mutation_p.Q581K|ALAS1_uc011bec.1_Missense_Mutation_p.Q598K	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	581					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	52246415	52246415	487	3	C	A	A	21	21	ALAS1	A	2	2
WNT5A	7474	broad.mit.edu	37	3	55513523	55513523	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:55513523G>T	uc003dhn.2	-	3	528	c.210C>A	c.(208-210)AGC>AGA	p.S70R	WNT5A_uc003dhm.2_Missense_Mutation_p.S55R|WNT5A_uc010hmw.2_Missense_Mutation_p.S55R|WNT5A_uc010hmx.2_Intron	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	70					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)														---	---	---	---	capture		Missense_Mutation	SNP	55513523	55513523	17965	3	G	T	T	42	42	WNT5A	T	2	2
FLNB	2317	broad.mit.edu	37	3	58127599	58127599	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58127599A>C	uc003djj.2	+	30	5289	c.5124A>C	c.(5122-5124)GAA>GAC	p.E1708D	FLNB_uc010hne.2_Missense_Mutation_p.E1739D|FLNB_uc003djk.2_Missense_Mutation_p.E1708D|FLNB_uc010hnf.2_Intron|FLNB_uc003djl.2_Missense_Mutation_p.E1539D|FLNB_uc003djm.2_Intron	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1708	Hinge 1 (By similarity).				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	58127599	58127599	6176	3	A	C	C	3	3	FLNB	C	4	4
ADAMTS9	56999	broad.mit.edu	37	3	64672280	64672280	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64672280G>T	uc003dmg.2	-	2	512	c.480C>A	c.(478-480)TCC>TCA	p.S160S	ADAMTS9_uc011bfo.1_Silent_p.S160S|ADAMTS9_uc003dmh.1_5'UTR|ADAMTS9_uc003dmk.1_Silent_p.S160S|uc003dml.2_Intron	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	160					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)														---	---	---	---	capture		Silent	SNP	64672280	64672280	274	3	G	T	T	39	39	ADAMTS9	T	1	1
PDZRN3	23024	broad.mit.edu	37	3	73433190	73433190	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:73433190T>C	uc003dpl.1	-	10	2623	c.2527A>G	c.(2527-2529)AGC>GGC	p.S843G	PDZRN3_uc011bgh.1_Missense_Mutation_p.S500G|PDZRN3_uc010hoe.1_Missense_Mutation_p.S541G|PDZRN3_uc011bgf.1_Missense_Mutation_p.S560G|PDZRN3_uc011bgg.1_Missense_Mutation_p.S563G	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	843							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)														---	---	---	---	capture		Missense_Mutation	SNP	73433190	73433190	12130	3	T	C	C	55	55	PDZRN3	C	4	4
NSUN3	63899	broad.mit.edu	37	3	93813893	93813893	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:93813893C>T	uc003drl.1	+	5	754	c.638C>T	c.(637-639)CCG>CTG	p.P213L		NM_022072	NP_071355	Q9H649	NSUN3_HUMAN	NOL1/NOP2/Sun domain family, member 3	213							methyltransferase activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	93813893	93813893	11084	3	C	T	T	23	23	NSUN3	T	1	1
OR5H15	403274	broad.mit.edu	37	3	97887996	97887996	+	Silent	SNP	T	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97887996T>G	uc011bgu.1	+	1	453	c.453T>G	c.(451-453)GCT>GCG	p.A151A		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	97887996	97887996	11571	3	T	G	G	55	55	OR5H15	G	4	4
C3orf15	89876	broad.mit.edu	37	3	119462849	119462849	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119462849G>T	uc003ede.3	+	14	1785	c.1708G>T	c.(1708-1710)GGA>TGA	p.G570*	C3orf15_uc010hqz.2_Nonsense_Mutation_p.G508*|C3orf15_uc011bjd.1_Nonsense_Mutation_p.G444*|C3orf15_uc011bje.1_Nonsense_Mutation_p.G550*	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	406	Potential.					mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)														---	---	---	---	capture		Nonsense_Mutation	SNP	119462849	119462849	2301	3	G	T	T	39	39	C3orf15	T	5	1
LRRC58	116064	broad.mit.edu	37	3	120054684	120054684	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120054684G>T	uc003edr.2	-	2	713	c.617C>A	c.(616-618)CCT>CAT	p.P206H		NM_001099678	NP_001093148	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	206	LRR 7.										0				GBM - Glioblastoma multiforme(114;0.147)														---	---	---	---	capture		Missense_Mutation	SNP	120054684	120054684	9389	3	G	T	T	35	35	LRRC58	T	2	2
SLC15A2	6565	broad.mit.edu	37	3	121649761	121649761	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121649761A>G	uc003eep.2	+	18	1781	c.1628A>G	c.(1627-1629)TAT>TGT	p.Y543C	SLC15A2_uc011bjn.1_Missense_Mutation_p.Y512C	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	543					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)													---	---	---	---	capture		Missense_Mutation	SNP	121649761	121649761	14894	3	A	G	G	16	16	SLC15A2	G	4	4
PARP15	165631	broad.mit.edu	37	3	122353965	122353965	+	Silent	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122353965C>G	uc003efm.2	+	11	1737	c.1671C>G	c.(1669-1671)CTC>CTG	p.L557L	PARP15_uc003efn.2_Silent_p.L362L|PARP15_uc003efo.1_Silent_p.L304L|PARP15_uc003efp.1_Silent_p.L323L|PARP15_uc011bjt.1_Silent_p.L254L	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	535	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5				GBM - Glioblastoma multiforme(114;0.0531)														---	---	---	---	capture		Silent	SNP	122353965	122353965	11876	3	C	G	G	32	32	PARP15	G	3	3
PLXNA1	5361	broad.mit.edu	37	3	126710360	126710360	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126710360G>T	uc003ejg.2	+	2	1263	c.1259G>T	c.(1258-1260)CGG>CTG	p.R420L		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	443	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)														---	---	---	---	capture		Missense_Mutation	SNP	126710360	126710360	12545	3	G	T	T	39	39	PLXNA1	T	1	1
MRAS	22808	broad.mit.edu	37	3	138091784	138091784	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138091784G>T	uc003esh.3	+	2	620	c.59G>T	c.(58-60)GGG>GTG	p.G20V	MRAS_uc011bmi.1_Intron|MRAS_uc003esi.3_Missense_Mutation_p.G20V|MRAS_uc011bmj.1_Intron	NM_012219	NP_036351	O14807	RASM_HUMAN	muscle RAS oncogene homolog precursor	20	GTP (By similarity).				actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	138091784	138091784	10147	3	G	T	T	43	43	MRAS	T	2	2
C3orf58	205428	broad.mit.edu	37	3	143708453	143708453	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:143708453A>G	uc003evo.2	+	3	1598	c.1063A>G	c.(1063-1065)ACT>GCT	p.T355A	C3orf58_uc011bnl.1_Missense_Mutation_p.T146A	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	hypothetical protein LOC205428 isoform a	355						COPI vesicle coat|extracellular region				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	143708453	143708453	2329	3	A	G	G	6	6	C3orf58	G	4	4
GPR171	29909	broad.mit.edu	37	3	150916412	150916412	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150916412T>C	uc003eyq.3	-	3	1002	c.762A>G	c.(760-762)ATA>ATG	p.I254M	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_013308	NP_037440	O14626	GP171_HUMAN	G protein-coupled receptor 171	254	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---	capture		Missense_Mutation	SNP	150916412	150916412	6943	3	T	C	C	61	61	GPR171	C	4	4
SCHIP1	29970	broad.mit.edu	37	3	159606697	159606697	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:159606697A>T	uc003fcs.1	+	6	1349	c.1283A>T	c.(1282-1284)CAA>CTA	p.Q428L	SCHIP1_uc003fcq.1_Missense_Mutation_p.Q504L|SCHIP1_uc003fcr.1_Missense_Mutation_p.Q417L|SCHIP1_uc003fct.1_Missense_Mutation_p.Q415L|SCHIP1_uc010hvz.1_Missense_Mutation_p.Q388L|SCHIP1_uc003fcu.1_Missense_Mutation_p.Q185L|SCHIP1_uc003fcv.1_Missense_Mutation_p.Q201L	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	428	Potential.					cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)															---	---	---	---	capture		Missense_Mutation	SNP	159606697	159606697	14386	3	A	T	T	5	5	SCHIP1	T	4	4
BCHE	590	broad.mit.edu	37	3	165548334	165548334	+	Missense_Mutation	SNP	C	A	A	rs141243848		TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:165548334C>A	uc003fem.3	-	2	648	c.488G>T	c.(487-489)CGG>CTG	p.R163L	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	163					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)													---	---	---	---	capture		Missense_Mutation	SNP	165548334	165548334	1379	3	C	A	A	23	23	BCHE	A	1	1
LEPREL1	55214	broad.mit.edu	37	3	189690791	189690791	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:189690791G>T	uc011bsk.1	-	11	1959	c.1571C>A	c.(1570-1572)CCA>CAA	p.P524Q	LEPREL1_uc003fsg.2_Missense_Mutation_p.P343Q	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	524					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	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 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---	capture		Missense_Mutation	SNP	189690791	189690791	9054	3	G	T	T	47	47	LEPREL1	T	2	2
BDH1	622	broad.mit.edu	37	3	197238877	197238877	+	Silent	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197238877G>A	uc003fxr.2	-	8	1323	c.921C>T	c.(919-921)ACC>ACT	p.T307T	BDH1_uc003fxs.2_Silent_p.T307T|BDH1_uc003fxt.2_Silent_p.T220T|BDH1_uc003fxu.2_Silent_p.T307T	NM_203314	NP_976059	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	307					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			ovary(1)	1	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)													---	---	---	---	capture		Silent	SNP	197238877	197238877	1412	3	G	A	A	39	39	BDH1	A	1	1
TAPT1	202018	broad.mit.edu	37	4	16189952	16189952	+	Silent	SNP	A	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16189952A>G	uc010ied.1	-	5	720	c.639T>C	c.(637-639)TTT>TTC	p.F213F	TAPT1_uc011bxd.1_RNA|TAPT1_uc011bxe.1_Silent_p.F102F	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation	213						integral to membrane	growth hormone-releasing hormone receptor activity				0																		---	---	---	---	capture		Silent	SNP	16189952	16189952	16075	4	A	G	G	5	5	TAPT1	G	4	4
MED28	80306	broad.mit.edu	37	4	17623209	17623209	+	Splice_Site	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:17623209G>T	uc003gpi.1	+	3	239	c.227_splice	c.e3-1	p.G76_splice	MED28_uc003gpj.2_Splice_Site	NM_025205	NP_079481			mediator complex subunit 28						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding				0																		---	---	---	---	capture		Splice_Site	SNP	17623209	17623209	9835	4	G	T	T	35	35	MED28	T	5	2
TBC1D1	23216	broad.mit.edu	37	4	38138765	38138765	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38138765G>T	uc003gtb.2	+	20	3659	c.3316G>T	c.(3316-3318)GGT>TGT	p.G1106C	TBC1D1_uc011byd.1_Missense_Mutation_p.G1097C|TBC1D1_uc010ifd.2_Missense_Mutation_p.G893C|TBC1D1_uc003gtd.2_Missense_Mutation_p.G118C	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	1106						nucleus	Rab GTPase activator activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	38138765	38138765	16119	4	G	T	T	47	47	TBC1D1	T	2	2
PHOX2B	8929	broad.mit.edu	37	4	41750460	41750460	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:41750460G>T	uc003gwf.3	-	1	528	c.168C>A	c.(166-168)GGC>GGA	p.G56G		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	56					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12								Mis|F		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				---	---	---	---	capture		Silent	SNP	41750460	41750460	12283	4	G	T	T	34	34	PHOX2B	T	2	2
GABRA2	2555	broad.mit.edu	37	4	46305516	46305516	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46305516A>G	uc003gxc.3	-	7	1490	c.817T>C	c.(817-819)TGG>CGG	p.W273R	GABRA2_uc010igc.2_Missense_Mutation_p.W273R|GABRA2_uc011bzc.1_Missense_Mutation_p.W218R|GABRA2_uc003gxe.2_Missense_Mutation_p.W273R	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	273	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---	capture		Missense_Mutation	SNP	46305516	46305516	6412	4	A	G	G	7	7	GABRA2	G	4	4
FRYL	285527	broad.mit.edu	37	4	48544139	48544139	+	Splice_Site	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48544139C>A	uc003gyh.1	-	45	6198	c.5593_splice	c.e45-1	p.G1865_splice	FRYL_uc003gyg.1_Splice_Site_p.G561_splice|FRYL_uc003gyi.1_Splice_Site_p.G753_splice|FRYL_uc003gyj.1_Splice_Site_p.G160_splice	NM_015030	NP_055845			furry-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---	capture		Splice_Site	SNP	48544139	48544139	6314	4	C	A	A	24	24	FRYL	A	5	2
FIP1L1	81608	broad.mit.edu	37	4	54319142	54319142	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:54319142C>A	uc003gzy.2	+	16	1527	c.1341C>A	c.(1339-1341)ACC>ACA	p.T447T	PDGFRA_uc003haa.2_Intron|FIP1L1_uc011bzu.1_Silent_p.T441T|FIP1L1_uc003gzz.2_Silent_p.T373T|FIP1L1_uc003hab.2_Silent_p.T412T|FIP1L1_uc003hac.2_Silent_p.T201T|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_Missense_Mutation_p.P32Q|FIP1L1_uc003hae.2_Missense_Mutation_p.P32Q	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	FIP1 like 1 isoform 1	447	Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)					T	PDGFRA	idiopathic hypereosinophilic syndrome								---	---	---	---	capture		Silent	SNP	54319142	54319142	6134	4	C	A	A	21	21	FIP1L1	A	2	2
LPHN3	23284	broad.mit.edu	37	4	62453133	62453133	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:62453133G>C	uc010ihh.2	+	2	417	c.244G>C	c.(244-246)GAT>CAT	p.D82H	LPHN3_uc003hcq.3_Missense_Mutation_p.D82H|LPHN3_uc010ihg.1_Missense_Mutation_p.D150H	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	82	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18																		---	---	---	---	capture		Missense_Mutation	SNP	62453133	62453133	9290	4	G	C	C	33	33	LPHN3	C	3	3
LPHN3	23284	broad.mit.edu	37	4	62845347	62845347	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:62845347G>A	uc010ihh.2	+	15	2841	c.2668G>A	c.(2668-2670)GTT>ATT	p.V890I	LPHN3_uc003hcq.3_Missense_Mutation_p.V890I|LPHN3_uc003hct.2_Missense_Mutation_p.V283I	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	877	Helical; Name=1; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18																		---	---	---	---	capture		Missense_Mutation	SNP	62845347	62845347	9290	4	G	A	A	48	48	LPHN3	A	2	2
PPM1K	152926	broad.mit.edu	37	4	89189398	89189398	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89189398C>A	uc003hrm.3	-	5	1186	c.796G>T	c.(796-798)GAT>TAT	p.D266Y		NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	protein phosphatase 1K (PP2C domain containing)	266	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)														---	---	---	---	capture		Missense_Mutation	SNP	89189398	89189398	12778	4	C	A	A	32	32	PPM1K	A	2	2
QRFPR	84109	broad.mit.edu	37	4	122254088	122254088	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122254088C>A	uc010inj.1	-	4	1064	c.685G>T	c.(685-687)GTG>TTG	p.V229L	QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Splice_Site_p.M228_splice	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	G protein-coupled receptor 103	229	Helical; Name=5; (Potential).			VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488).		plasma membrane	neuropeptide Y receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	122254088	122254088	13336	4	C	A	A	18	18	QRFPR	A	2	2
FBXW7	55294	broad.mit.edu	37	4	153249410	153249410	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:153249410G>T	uc003ims.2	-	9	1517	c.1368C>A	c.(1366-1368)ACC>ACA	p.T456T	FBXW7_uc011cii.1_Silent_p.T456T|FBXW7_uc003imt.2_Silent_p.T456T|FBXW7_uc011cih.1_Silent_p.T280T|FBXW7_uc003imq.2_Silent_p.T376T|FBXW7_uc003imr.2_Silent_p.T338T	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	456	WD 2.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)						Mis|N|D|F		colorectal|endometrial|T-ALL								---	---	---	---	capture		Silent	SNP	153249410	153249410	6006	4	G	T	T	35	35	FBXW7	T	2	2
PDGFC	56034	broad.mit.edu	37	4	157693940	157693940	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:157693940G>C	uc003iph.1	-	4	1092	c.601C>G	c.(601-603)CGA>GGA	p.R201G	PDGFC_uc003ipi.1_Missense_Mutation_p.R38G|PDGFC_uc011cis.1_Missense_Mutation_p.R38G|PDGFC_uc011cir.1_Missense_Mutation_p.R45G	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	201					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)														---	---	---	---	capture		Missense_Mutation	SNP	157693940	157693940	12080	4	G	C	C	37	37	PDGFC	C	3	3
FAM198B	51313	broad.mit.edu	37	4	159092200	159092200	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159092200T>C	uc003ipp.3	-	2	780	c.328A>G	c.(328-330)ACC>GCC	p.T110A	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.T110A|FAM198B_uc003ipr.3_Missense_Mutation_p.T110A|FAM198B_uc003ips.2_Missense_Mutation_p.T110A|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	110	Extracellular (Potential).					Golgi membrane|integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	159092200	159092200	5743	4	T	C	C	57	57	FAM198B	C	4	4
PALLD	23022	broad.mit.edu	37	4	169433238	169433238	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169433238G>T	uc011cjx.1	+	2	794	c.583G>T	c.(583-585)GGG>TGG	p.G195W	PALLD_uc003iru.2_Missense_Mutation_p.G195W	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	195					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)										Pancreatic_Cancer_Familial_Clustering_of				---	---	---	---	capture		Missense_Mutation	SNP	169433238	169433238	11823	4	G	T	T	47	47	PALLD	T	2	2
ADAM29	11086	broad.mit.edu	37	4	175897024	175897024	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:175897024C>A	uc003iuc.2	+	5	1018	c.348C>A	c.(346-348)CTC>CTA	p.L116L	ADAM29_uc003iud.2_Silent_p.L116L|ADAM29_uc010irr.2_Silent_p.L116L|ADAM29_uc011cki.1_Silent_p.L116L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	116					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)														---	---	---	---	capture		Silent	SNP	175897024	175897024	248	4	C	A	A	29	29	ADAM29	A	2	2
ODZ3	55714	broad.mit.edu	37	4	183676047	183676047	+	Silent	SNP	C	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183676047C>T	uc003ivd.1	+	21	4564	c.4527C>T	c.(4525-4527)AAC>AAT	p.N1509N	ODZ3_uc003ive.1_Silent_p.N922N	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1509	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---	capture		Silent	SNP	183676047	183676047	11241	4	C	T	T	20	20	ODZ3	T	2	2
ODZ3	55714	broad.mit.edu	37	4	183713918	183713918	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183713918G>T	uc003ivd.1	+	25	6130	c.6093G>T	c.(6091-6093)CAG>CAT	p.Q2031H		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2031	YD 13.|Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---	capture		Missense_Mutation	SNP	183713918	183713918	11241	4	G	T	T	35	35	ODZ3	T	2	2
MRPL36	64979	broad.mit.edu	37	5	1799040	1799040	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1799040G>A	uc003jcx.3	-	2	73	c.10C>T	c.(10-12)CTT>TTT	p.L4F	NDUFS6_uc003jcy.2_5'Flank	NM_032479	NP_115868	Q9P0J6	RM36_HUMAN	mitochondrial ribosomal protein L36 precursor	4					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0				GBM - Glioblastoma multiforme(108;0.241)														---	---	---	---	capture		Missense_Mutation	SNP	1799040	1799040	10192	5	G	A	A	33	33	MRPL36	A	2	2
ADCY2	108	broad.mit.edu	37	5	7789771	7789771	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7789771G>T	uc003jdz.1	+	20	2553	c.2486G>T	c.(2485-2487)AGG>ATG	p.R829M	ADCY2_uc011cmo.1_Missense_Mutation_p.R649M|ADCY2_uc010itm.1_Missense_Mutation_p.R25M	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	829	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	7789771	7789771	295	5	G	T	T	35	35	ADCY2	T	2	2
CDH10	1008	broad.mit.edu	37	5	24593512	24593512	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:24593512G>T	uc003jgr.1	-	2	420	c.88C>A	c.(88-90)CCT>ACT	p.P30T	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	30					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)											HNSCC(23;0.051)			---	---	---	---	capture		Missense_Mutation	SNP	24593512	24593512	3225	5	G	T	T	42	42	CDH10	T	2	2
CDH9	1007	broad.mit.edu	37	5	26915806	26915806	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:26915806A>C	uc003jgs.1	-	3	624	c.455T>G	c.(454-456)ATC>AGC	p.I152S	CDH9_uc010iug.2_Missense_Mutation_p.I152S	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	152	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	26915806	26915806	3246	5	A	C	C	12	12	CDH9	C	4	4
LMBRD2	92255	broad.mit.edu	37	5	36137453	36137453	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36137453G>C	uc003jkb.1	-	5	874	c.459C>G	c.(457-459)ATC>ATG	p.I153M		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	153	Helical; (Potential).					integral to membrane					0	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	36137453	36137453	9172	5	G	C	C	33	33	LMBRD2	C	3	3
C5orf42	65250	broad.mit.edu	37	5	37120354	37120354	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37120354A>C	uc011cpa.1	-	49	9343	c.9112T>G	c.(9112-9114)TCT>GCT	p.S3038A	C5orf42_uc003jko.1_Missense_Mutation_p.S69A|C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.S1556A|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.S2131A	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	3038										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	37120354	37120354	2399	5	A	C	C	10	10	C5orf42	C	4	4
NUP155	9631	broad.mit.edu	37	5	37370926	37370926	+	Missense_Mutation	SNP	G	T	T	rs144801440	by1000genomes	TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37370926G>T	uc003jku.1	-	1	272	c.154C>A	c.(154-156)CCA>ACA	p.P52T	NUP155_uc003jkt.1_5'Flank|NUP155_uc010iuz.1_Missense_Mutation_p.P52T	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	52					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	37370926	37370926	11161	5	G	T	T	43	43	NUP155	T	2	2
C6	729	broad.mit.edu	37	5	41142975	41142975	+	Nonsense_Mutation	SNP	A	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41142975A>T	uc003jmk.2	-	18	2967	c.2757T>A	c.(2755-2757)TGT>TGA	p.C919*	C6_uc003jml.1_Nonsense_Mutation_p.C919*	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	919	Complement control factor I module 2.|C5b-binding domain.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)																---	---	---	---	capture		Nonsense_Mutation	SNP	41142975	41142975	2416	5	A	T	T	6	6	C6	T	5	4
CDC20B	166979	broad.mit.edu	37	5	54442562	54442562	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:54442562C>A	uc003jpo.1	-	3	424	c.249G>T	c.(247-249)AGG>AGT	p.R83S	CDC20B_uc003jpn.1_Missense_Mutation_p.R83S|CDC20B_uc010ivu.1_Missense_Mutation_p.R83S|CDC20B_uc010ivv.1_Missense_Mutation_p.R83S|CDC20B_uc003jpp.2_RNA	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	CDC20 cell division cycle 20 homolog B isoform	83											0		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)													OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	54442562	54442562	3188	5	C	A	A	22	22	CDC20B	A	2	2
DEPDC1B	55789	broad.mit.edu	37	5	59982955	59982955	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:59982955C>A	uc003jsh.2	-	2	221	c.148G>T	c.(148-150)GTG>TTG	p.V50L	DEPDC1B_uc011cqm.1_Missense_Mutation_p.V50L|DEPDC1B_uc011cqn.1_Missense_Mutation_p.V23L	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	50	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)																---	---	---	---	capture		Missense_Mutation	SNP	59982955	59982955	4619	5	C	A	A	17	17	DEPDC1B	A	2	2
KIF2A	3796	broad.mit.edu	37	5	61643888	61643888	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:61643888G>A	uc003jsy.3	+	3	484	c.173G>A	c.(172-174)AGC>AAC	p.S58N	KIF2A_uc003jsz.3_Missense_Mutation_p.S58N|KIF2A_uc010iwp.2_Missense_Mutation_p.S58N|KIF2A_uc003jsx.3_Missense_Mutation_p.S38N|KIF2A_uc010iwq.2_5'UTR	NM_004520	NP_004511	O00139	KIF2A_HUMAN	kinesin heavy chain member 2 isoform 1	58	Globular (Potential).				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding				0		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)														---	---	---	---	capture		Missense_Mutation	SNP	61643888	61643888	8608	5	G	A	A	34	34	KIF2A	A	2	2
BDP1	55814	broad.mit.edu	37	5	70798568	70798568	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70798568A>G	uc003kbp.1	+	15	2454	c.2191A>G	c.(2191-2193)ATT>GTT	p.I731V	BDP1_uc003kbn.1_Missense_Mutation_p.I731V|BDP1_uc003kbo.2_Missense_Mutation_p.I731V	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	731					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---	capture		Missense_Mutation	SNP	70798568	70798568	1417	5	A	G	G	4	4	BDP1	G	4	4
AGGF1	55109	broad.mit.edu	37	5	76331382	76331382	+	Silent	SNP	G	T	T	rs146897885	by1000genomes	TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:76331382G>T	uc003ket.2	+	3	690	c.330G>T	c.(328-330)ACG>ACT	p.T110T	AGGF1_uc003kes.2_Silent_p.T110T|AGGF1_uc003keu.1_RNA	NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	angiogenic factor VG5Q	110					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)														---	---	---	---	capture		Silent	SNP	76331382	76331382	385	5	G	T	T	40	40	AGGF1	T	1	1
ARSB	411	broad.mit.edu	37	5	78181566	78181566	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78181566C>A	uc003kfq.2	-	5	2269	c.983G>T	c.(982-984)GGG>GTG	p.G328V	ARSB_uc003kfr.3_Missense_Mutation_p.G328V	NM_000046	NP_000037	P15848	ARSB_HUMAN	arylsulfatase B isoform 1 precursor	328					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			upper_aerodigestive_tract(1)	1		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)														---	---	---	---	capture		Missense_Mutation	SNP	78181566	78181566	1006	5	C	A	A	22	22	ARSB	A	2	2
STARD4	134429	broad.mit.edu	37	5	110843086	110843086	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:110843086T>C	uc003kph.1	-	2	130	c.46A>G	c.(46-48)AAC>GAC	p.N16D	STARD4_uc010jbw.1_5'UTR|STARD4_uc010jbx.1_Intron|STARD4_uc003kpi.1_RNA|STARD4_uc003kpj.2_Missense_Mutation_p.N16D	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain	16	START.				lipid transport		lipid binding			ovary(1)	1		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)														---	---	---	---	capture		Missense_Mutation	SNP	110843086	110843086	15778	5	T	C	C	64	64	STARD4	C	4	4
FBN2	2201	broad.mit.edu	37	5	127671243	127671243	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127671243C>A	uc003kuu.2	-	29	4190	c.3751G>T	c.(3751-3753)GGA>TGA	p.G1251*	FBN2_uc003kuv.2_Nonsense_Mutation_p.G1218*	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1251	EGF-like 19; calcium-binding.				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		Nonsense_Mutation	SNP	127671243	127671243	5939	5	C	A	A	23	23	FBN2	A	5	1
PCDHGA11	56105	broad.mit.edu	37	5	140802848	140802848	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140802848C>G	uc003lkq.1	+	1	2312	c.2054C>G	c.(2053-2055)TCT>TGT	p.S685C	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_uc003lko.1_Missense_Mutation_p.S685C|PCDHGA11_uc003lkp.1_Intron	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	685	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140802848	140802848	11972	5	C	G	G	32	32	PCDHGA11	G	3	3
PCDHGA11	56105	broad.mit.edu	37	5	140802857	140802857	+	Nonsense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140802857C>G	uc003lkq.1	+	1	2321	c.2063C>G	c.(2062-2064)TCA>TGA	p.S688*	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_uc003lko.1_Nonsense_Mutation_p.S688*|PCDHGA11_uc003lkp.1_Intron|PCDHGB8P_uc011daz.1_5'Flank	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	688	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Nonsense_Mutation	SNP	140802857	140802857	11972	5	C	G	G	29	29	PCDHGA11	G	5	3
PCDHGC3	5098	broad.mit.edu	37	5	140857793	140857793	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140857793G>T	uc003lkv.1	+	1	2225	c.2110G>T	c.(2110-2112)GGG>TGG	p.G704W	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_uc003lku.1_Missense_Mutation_p.G704W|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	704	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)													OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	140857793	140857793	11989	5	G	T	T	43	43	PCDHGC3	T	2	2
TCOF1	6949	broad.mit.edu	37	5	149755338	149755338	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149755338G>T	uc003lry.2	+	12	1867	c.1759G>T	c.(1759-1761)GGG>TGG	p.G587W	TCOF1_uc003lrw.2_Missense_Mutation_p.G587W|TCOF1_uc011dch.1_Missense_Mutation_p.G587W|TCOF1_uc003lrz.2_Missense_Mutation_p.G587W|TCOF1_uc003lrx.2_Missense_Mutation_p.G510W|TCOF1_uc003lsa.2_Missense_Mutation_p.G510W|TCOF1_uc011dci.1_Missense_Mutation_p.G76W	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	587					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---	capture		Missense_Mutation	SNP	149755338	149755338	16234	5	G	T	T	43	43	TCOF1	T	2	2
ADAM19	8728	broad.mit.edu	37	5	156946993	156946993	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156946993G>T	uc003lwz.2	-	6	518	c.454C>A	c.(454-456)CTC>ATC	p.L152I	ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.L83I	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	152					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---	capture		Missense_Mutation	SNP	156946993	156946993	241	5	G	T	T	35	35	ADAM19	T	2	2
GABRG2	2566	broad.mit.edu	37	5	161580278	161580278	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:161580278C>G	uc003lyz.3	+	9	1666	c.1308C>G	c.(1306-1308)ATC>ATG	p.I436M	GABRG2_uc010jjc.2_Missense_Mutation_p.I484M|GABRG2_uc003lyy.3_Missense_Mutation_p.I444M|GABRG2_uc011dej.1_Missense_Mutation_p.I341M	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	436	Cytoplasmic (Probable).|Interaction with GABARAP (Potential).				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		Missense_Mutation	SNP	161580278	161580278	6423	5	C	G	G	30	30	GABRG2	G	3	3
F12	2161	broad.mit.edu	37	5	176833016	176833016	+	Silent	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176833016G>A	uc003mgo.3	-	3	211	c.162C>T	c.(160-162)CAC>CAT	p.H54H	F12_uc011dfy.1_5'Flank|F12_uc003mgn.3_5'Flank|F12_uc010jkl.2_RNA	NM_000505	NP_000496	P00748	FA12_HUMAN	coagulation factor XII precursor	54	Fibronectin type-II.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)											Hereditary_Angioedema				---	---	---	---	capture		Silent	SNP	176833016	176833016	5533	5	G	A	A	44	44	F12	A	2	2
GNB2L1	10399	broad.mit.edu	37	5	180666087	180666087	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180666087G>T	uc003mni.1	-	5	722	c.616C>A	c.(616-618)CTC>ATC	p.L206I	GNB2L1_uc003mnh.1_Missense_Mutation_p.L165I|GNB2L1_uc003mnk.1_Missense_Mutation_p.L128I|GNB2L1_uc003mnj.1_Missense_Mutation_p.L160I|GNB2L1_uc003mnl.1_5'UTR|GNB2L1_uc011dhk.1_Missense_Mutation_p.L206I|GNB2L1_uc010jls.2_3'UTR	NM_006098	NP_006089	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein),	206	WD 5.				apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)														---	---	---	---	capture		Missense_Mutation	SNP	180666087	180666087	6787	5	G	T	T	35	35	GNB2L1	T	2	2
TMEM170B	100113407	broad.mit.edu	37	6	11566033	11566033	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:11566033G>C	uc010jpa.2	+	2	232	c.232G>C	c.(232-234)GGA>CGA	p.G78R		NM_001100829	NP_001094299	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	78	Helical; (Potential).					integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	11566033	11566033	16621	6	G	C	C	47	47	TMEM170B	C	3	3
HIST1H2AA	221613	broad.mit.edu	37	6	25726578	25726578	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25726578T>C	uc003nfc.2	-	1	213	c.178A>G	c.(178-180)ACA>GCA	p.T60A	HIST1H2BA_uc003nfd.2_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	60					nucleosome assembly	nucleosome|nucleus	DNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	25726578	25726578	7413	6	T	C	C	59	59	HIST1H2AA	C	4	4
OR2J3	442186	broad.mit.edu	37	6	29080440	29080440	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29080440C>A	uc011dll.1	+	1	773	c.773C>A	c.(772-774)GCC>GAC	p.A258D		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	258	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	29080440	29080440	11410	6	C	A	A	26	26	OR2J3	A	2	2
TRIM39	56658	broad.mit.edu	37	6	30310025	30310025	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30310025G>C	uc010jrz.2	+	9	1858	c.1546G>C	c.(1546-1548)GAT>CAT	p.D516H	TRIM39_uc003npz.2_Missense_Mutation_p.D486H|TRIM39_uc003nqb.2_Missense_Mutation_p.D486H|TRIM39_uc003nqc.2_Missense_Mutation_p.D486H|TRIM39_uc010jsa.1_Intron|RPP21_uc003nqd.1_5'Flank|RPP21_uc003nqe.1_5'Flank|RPP21_uc003nqf.1_5'Flank	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	516					apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	30310025	30310025	17057	6	G	C	C	33	33	TRIM39	C	3	3
ITPR3	3710	broad.mit.edu	37	6	33634988	33634988	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33634988A>G	uc011drk.1	+	15	1853	c.1634A>G	c.(1633-1635)AAG>AGG	p.K545R		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	545	Cytoplasmic (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	33634988	33634988	8226	6	A	G	G	3	3	ITPR3	G	4	4
KLHDC3	116138	broad.mit.edu	37	6	42986851	42986851	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42986851G>T	uc003otl.2	+	9	1120	c.951G>T	c.(949-951)CTG>CTT	p.L317L	C6orf153_uc003otp.1_5'Flank|KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Silent_p.L293L|KLHDC3_uc003otn.2_Silent_p.L201L|KLHDC3_uc003oto.2_Silent_p.L258L	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	317					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			upper_aerodigestive_tract(1)	1			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)															---	---	---	---	capture		Silent	SNP	42986851	42986851	8669	6	G	T	T	47	47	KLHDC3	T	2	2
SRF	6722	broad.mit.edu	37	6	43146615	43146615	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43146615C>A	uc003oui.2	+	6	1901	c.1426C>A	c.(1426-1428)CAC>AAC	p.H476N	SRF_uc011dvf.1_Missense_Mutation_p.H272N	NM_003131	NP_003122	P11831	SRF_HUMAN	serum response factor (c-fos serum response	476					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			ovary(1)|breast(1)|central_nervous_system(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)															---	---	---	---	capture		Missense_Mutation	SNP	43146615	43146615	15657	6	C	A	A	21	21	SRF	A	2	2
CUL9	23113	broad.mit.edu	37	6	43155069	43155069	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43155069G>T	uc003ouk.2	+	6	1548	c.1473G>T	c.(1471-1473)GTG>GTT	p.V491V	CUL9_uc003ouj.1_Intron|CUL9_uc003oul.2_Silent_p.V491V|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Intron	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	491					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---	capture		Silent	SNP	43155069	43155069	4221	6	G	T	T	47	47	CUL9	T	2	2
SLC22A7	10864	broad.mit.edu	37	6	43271783	43271783	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43271783G>T	uc003out.2	+	10	1492	c.1393G>T	c.(1393-1395)GGG>TGG	p.G465W	SLC22A7_uc003ous.2_Missense_Mutation_p.G463W	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	solute carrier family 22 member 7 isoform b	465						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)															---	---	---	---	capture		Missense_Mutation	SNP	43271783	43271783	14956	6	G	T	T	35	35	SLC22A7	T	2	2
PGK2	5232	broad.mit.edu	37	6	49754132	49754132	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49754132G>T	uc003ozu.2	-	1	876	c.769C>A	c.(769-771)CTG>ATG	p.L257M		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	257					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)																	---	---	---	---	capture		Missense_Mutation	SNP	49754132	49754132	12214	6	G	T	T	35	35	PGK2	T	2	2
FAM83B	222584	broad.mit.edu	37	6	54805755	54805755	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:54805755G>T	uc003pck.2	+	5	2102	c.1986G>T	c.(1984-1986)AGG>AGT	p.R662S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	662										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)																	---	---	---	---	capture		Missense_Mutation	SNP	54805755	54805755	5860	6	G	T	T	42	42	FAM83B	T	2	2
PHF3	23469	broad.mit.edu	37	6	64389923	64389923	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:64389923G>T	uc003pep.1	+	2	293	c.267G>T	c.(265-267)ATG>ATT	p.M89I	PHF3_uc010kaf.1_Missense_Mutation_p.M89I|PHF3_uc003pem.2_Missense_Mutation_p.M42I|PHF3_uc010kag.1_Missense_Mutation_p.M1I|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Missense_Mutation_p.M1I|PHF3_uc011dxs.1_5'UTR|PHF3_uc003peo.2_Missense_Mutation_p.M89I	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	89					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)															---	---	---	---	capture		Missense_Mutation	SNP	64389923	64389923	12259	6	G	T	T	47	47	PHF3	T	2	2
BAI3	577	broad.mit.edu	37	6	69945025	69945025	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:69945025G>C	uc003pev.3	+	19	3157	c.2709G>C	c.(2707-2709)TGG>TGC	p.W903C	BAI3_uc010kak.2_Missense_Mutation_p.W903C|BAI3_uc011dxx.1_Missense_Mutation_p.W109C|BAI3_uc003pex.1_Missense_Mutation_p.W33C	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	903	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)																---	---	---	---	capture		Missense_Mutation	SNP	69945025	69945025	1321	6	G	C	C	41	41	BAI3	C	3	3
SENP6	26054	broad.mit.edu	37	6	76333641	76333641	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76333641G>A	uc003pid.3	+	3	791	c.172G>A	c.(172-174)GAA>AAA	p.E58K	SENP6_uc003pie.3_Missense_Mutation_p.E58K|SENP6_uc003pic.2_Missense_Mutation_p.E58K	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	58					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6		all_hematologic(105;0.189)																---	---	---	---	capture		Missense_Mutation	SNP	76333641	76333641	14536	6	G	A	A	45	45	SENP6	A	2	2
PHIP	55023	broad.mit.edu	37	6	79688325	79688325	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:79688325G>T	uc003pir.2	-	24	3099	c.2873C>A	c.(2872-2874)CCA>CAA	p.P958Q	PHIP_uc003piq.2_5'UTR|PHIP_uc011dyp.1_Missense_Mutation_p.P957Q	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	958	Mediates interaction with IRS1 (By similarity).				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	79688325	79688325	12266	6	G	T	T	47	47	PHIP	T	2	2
UBE2J1	51465	broad.mit.edu	37	6	90039673	90039673	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90039673C>A	uc010kcb.2	-	9	855	c.682G>T	c.(682-684)GGA>TGA	p.G228*	UBE2J1_uc003pnc.2_Nonsense_Mutation_p.G228*	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	228	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)														---	---	---	---	capture		Nonsense_Mutation	SNP	90039673	90039673	17417	6	C	A	A	23	23	UBE2J1	A	5	1
MDN1	23195	broad.mit.edu	37	6	90442427	90442427	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90442427C>G	uc003pnn.1	-	34	4907	c.4791G>C	c.(4789-4791)AAG>AAC	p.K1597N		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1597					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		Missense_Mutation	SNP	90442427	90442427	9804	6	C	G	G	20	20	MDN1	G	3	3
SOBP	55084	broad.mit.edu	37	6	107954983	107954983	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107954983C>A	uc003prx.2	+	6	1439	c.935C>A	c.(934-936)CCC>CAC	p.P312H		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	312							metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)														---	---	---	---	capture		Missense_Mutation	SNP	107954983	107954983	15412	6	C	A	A	22	22	SOBP	A	2	2
TRAF3IP2	10758	broad.mit.edu	37	6	111887689	111887689	+	Silent	SNP	G	A	A	rs144166946	by1000genomes	TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111887689G>A	uc011ebc.1	-	8	2049	c.1434C>T	c.(1432-1434)GAC>GAT	p.D478D	TRAF3IP2_uc011ebb.1_Silent_p.D22D|TRAF3IP2_uc003pvd.2_Silent_p.D70D|TRAF3IP2_uc003pvg.2_Silent_p.D477D|TRAF3IP2_uc003pvf.2_Silent_p.D478D	NM_147686	NP_679211	O43734	CIKS_HUMAN	TRAF3 interacting protein 2 isoform 2	487	SEFIR.				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				ovary(2)|central_nervous_system(1)	3		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)														---	---	---	---	capture		Silent	SNP	111887689	111887689	16985	6	G	A	A	40	40	TRAF3IP2	A	1	1
TRDN	10345	broad.mit.edu	37	6	123698878	123698878	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123698878G>C	uc003pzj.1	-	18	1251	c.1229C>G	c.(1228-1230)CCA>CGA	p.P410R	TRDN_uc003pzk.1_Missense_Mutation_p.P411R|TRDN_uc003pzl.1_Missense_Mutation_p.P411R|TRDN_uc010kem.1_5'UTR	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	410	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)														---	---	---	---	capture		Missense_Mutation	SNP	123698878	123698878	17012	6	G	C	C	47	47	TRDN	C	3	3
TAAR2	9287	broad.mit.edu	37	6	132939037	132939037	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132939037C>G	uc003qdl.1	-	2	308	c.308G>C	c.(307-309)AGA>ACA	p.R103T	TAAR2_uc010kfr.1_Missense_Mutation_p.R58T	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2 isoform 1	103	Extracellular (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)														---	---	---	---	capture		Missense_Mutation	SNP	132939037	132939037	16011	6	C	G	G	32	32	TAAR2	G	3	3
EYA4	2070	broad.mit.edu	37	6	133827274	133827274	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:133827274C>G	uc003qec.3	+	14	1680	c.1222C>G	c.(1222-1224)CGC>GGC	p.R408G	EYA4_uc011ecq.1_Missense_Mutation_p.R354G|EYA4_uc011ecr.1_Missense_Mutation_p.R360G|EYA4_uc003qed.3_Missense_Mutation_p.R408G|EYA4_uc003qee.3_Missense_Mutation_p.R385G|EYA4_uc011ecs.1_Missense_Mutation_p.R414G|uc003qef.1_RNA|uc003qeg.1_RNA	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	408					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)														---	---	---	---	capture		Missense_Mutation	SNP	133827274	133827274	5525	6	C	G	G	23	23	EYA4	G	3	3
HIVEP2	3097	broad.mit.edu	37	6	143094585	143094585	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:143094585G>A	uc003qjd.2	-	5	2034	c.1291C>T	c.(1291-1293)CGG>TGG	p.R431W		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)														---	---	---	---	capture		Missense_Mutation	SNP	143094585	143094585	7478	6	G	A	A	37	37	HIVEP2	A	1	1
UTRN	7402	broad.mit.edu	37	6	144808798	144808798	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144808798G>A	uc003qkt.2	+	28	4029	c.3937G>A	c.(3937-3939)GCT>ACT	p.A1313T		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1313	Spectrin 9.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---	capture		Missense_Mutation	SNP	144808798	144808798	17668	6	G	A	A	42	42	UTRN	A	2	2
FBXO30	84085	broad.mit.edu	37	6	146126659	146126659	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146126659G>T	uc003qla.2	-	2	1082	c.883C>A	c.(883-885)CAG>AAG	p.Q295K	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	295							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)														---	---	---	---	capture		Missense_Mutation	SNP	146126659	146126659	5977	6	G	T	T	47	47	FBXO30	T	2	2
SHPRH	257218	broad.mit.edu	37	6	146256083	146256083	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146256083G>T	uc003qlf.2	-	13	3349	c.2950C>A	c.(2950-2952)CCA>ACA	p.P984T	SHPRH_uc003qld.2_Missense_Mutation_p.P984T|SHPRH_uc003qle.2_Missense_Mutation_p.P984T|SHPRH_uc003qlg.1_Missense_Mutation_p.P540T|SHPRH_uc003qlj.1_Missense_Mutation_p.P873T|SHPRH_uc003qlh.2_5'Flank	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	984					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)														---	---	---	---	capture		Missense_Mutation	SNP	146256083	146256083	14786	6	G	T	T	43	43	SHPRH	T	2	2
ARID1B	57492	broad.mit.edu	37	6	157502211	157502211	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157502211G>A	uc003qqn.2	+	12	3342	c.3190G>A	c.(3190-3192)GAG>AAG	p.E1064K	ARID1B_uc003qqo.2_Missense_Mutation_p.E1024K|ARID1B_uc003qqp.2_Missense_Mutation_p.E1011K|ARID1B_uc010kjl.2_Missense_Mutation_p.E209K	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1069	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)														---	---	---	---	capture		Missense_Mutation	SNP	157502211	157502211	929	6	G	A	A	33	33	ARID1B	A	2	2
WTAP	9589	broad.mit.edu	37	6	160164807	160164807	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160164807G>A	uc003qsl.2	+	5	478	c.256G>A	c.(256-258)GAG>AAG	p.E86K	WTAP_uc010kjx.2_Missense_Mutation_p.E86K|WTAP_uc003qsk.2_Missense_Mutation_p.E86K|WTAP_uc003qsm.1_RNA|WTAP_uc003qsn.2_Missense_Mutation_p.E86K	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Wilms' tumour 1-associating protein isoform 1	86					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus					0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)														---	---	---	---	capture		Missense_Mutation	SNP	160164807	160164807	17983	6	G	A	A	33	33	WTAP	A	2	2
KDELR2	11014	broad.mit.edu	37	7	6505702	6505702	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6505702C>A	uc003sqe.3	-	4	765	c.604G>T	c.(604-606)GTA>TTA	p.V202L	DAGLB_uc003sqd.3_Intron|KDELR2_uc003sqf.3_Intron	NM_006854	NP_006845	P33947	ERD22_HUMAN	KDEL receptor 2 isoform 1	202	Cytoplasmic (Potential).				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)														---	---	---	---	capture		Missense_Mutation	SNP	6505702	6505702	8426	7	C	A	A	24	24	KDELR2	A	2	2
TMEM195	392636	broad.mit.edu	37	7	15430477	15430477	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:15430477C>A	uc003stb.1	-	7	900	c.730G>T	c.(730-732)GAT>TAT	p.D244Y		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	244					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	15430477	15430477	16652	7	C	A	A	30	30	TMEM195	A	2	2
C7orf16	10842	broad.mit.edu	37	7	31746859	31746859	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31746859G>T	uc003tcl.2	+	5	588	c.430G>T	c.(430-432)GAA>TAA	p.E144*	C7orf16_uc011kaf.1_Nonsense_Mutation_p.E93*	NM_006658	NP_006649	O96001	GSUB_HUMAN	G-substrate isoform 1	144					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction				ovary(2)|central_nervous_system(1)	3			GBM - Glioblastoma multiforme(11;0.216)															---	---	---	---	capture		Nonsense_Mutation	SNP	31746859	31746859	2485	7	G	T	T	41	41	C7orf16	T	5	2
TARP	445347	broad.mit.edu	37	7	38299746	38299746	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38299746G>T	uc003tge.1	-	7	1268	c.891C>A	c.(889-891)ATC>ATA	p.I297I	uc003tfx.1_5'Flank|uc003tfz.1_Intron|TARP_uc003tgb.2_Silent_p.I93I|TARP_uc003tgc.1_Silent_p.I93I|TARP_uc003tgd.1_Silent_p.I93I			A2JGV3	A2JGV3_HUMAN	Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.	Error:Variant_position_missing_in_A2JGV3_after_alignment											0																		---	---	---	---	capture		Silent	SNP	38299746	38299746	16080	7	G	T	T	45	45	TARP	T	2	2
UPP1	7378	broad.mit.edu	37	7	48147012	48147012	+	Missense_Mutation	SNP	C	T	T	rs138630287		TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48147012C>T	uc003toj.2	+	9	1230	c.701C>T	c.(700-702)GCG>GTG	p.A234V	UPP1_uc003tok.2_Missense_Mutation_p.A234V|UPP1_uc003tol.2_Missense_Mutation_p.A234V|UPP1_uc011kch.1_Missense_Mutation_p.A27V|UPP1_uc003ton.2_Missense_Mutation_p.A97V|UPP1_uc003too.2_Missense_Mutation_p.A97V	NM_181597	NP_853628	Q16831	UPP1_HUMAN	uridine phosphorylase 1	234					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	48147012	48147012	17573	7	C	T	T	27	27	UPP1	T	1	1
ABCA13	154664	broad.mit.edu	37	7	48411933	48411933	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48411933G>T	uc003toq.2	+	33	10997	c.10972G>T	c.(10972-10974)GGG>TGG	p.G3658W	ABCA13_uc010kys.1_Missense_Mutation_p.G732W|ABCA13_uc003tos.1_Missense_Mutation_p.G484W	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3658	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	48411933	48411933	32	7	G	T	T	47	47	ABCA13	T	2	2
FIGNL1	63979	broad.mit.edu	37	7	50513686	50513686	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:50513686G>T	uc003tpc.2	-	4	1677	c.1300C>A	c.(1300-1302)CCT>ACT	p.P434T	FIGNL1_uc003tpb.2_Missense_Mutation_p.P323T|FIGNL1_uc003tpd.2_Missense_Mutation_p.P434T|FIGNL1_uc003tpe.2_Missense_Mutation_p.P434T|FIGNL1_uc010kyy.2_Missense_Mutation_p.P434T	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	434					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)																---	---	---	---	capture		Missense_Mutation	SNP	50513686	50513686	6130	7	G	T	T	43	43	FIGNL1	T	2	2
WBSCR28	135886	broad.mit.edu	37	7	73279346	73279346	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73279346C>A	uc003tzk.2	+	2	132	c.96C>A	c.(94-96)CTC>CTA	p.L32L	RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_5'UTR	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	hypothetical protein LOC135886	32						integral to membrane				breast(1)	1		Lung NSC(55;0.159)																---	---	---	---	capture		Silent	SNP	73279346	73279346	17839	7	C	A	A	32	32	WBSCR28	A	2	2
RSBN1L	222194	broad.mit.edu	37	7	77325946	77325946	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77325946C>A	uc010ldt.1	+	1	204	c.160C>A	c.(160-162)CGG>AGG	p.R54R	RSBN1L_uc003ugm.2_5'Flank|uc003ugj.1_RNA	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	54						nucleus				ovary(1)	1																		---	---	---	---	capture		Silent	SNP	77325946	77325946	14177	7	C	A	A	27	27	RSBN1L	A	1	1
MAGI2	9863	broad.mit.edu	37	7	77756572	77756572	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77756572T>C	uc003ugx.2	-	19	3619	c.3365A>G	c.(3364-3366)TAC>TGC	p.Y1122C	MAGI2_uc003ugy.2_Missense_Mutation_p.Y1108C|MAGI2_uc010ldx.1_Missense_Mutation_p.Y715C	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	1122						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)																---	---	---	---	capture		Missense_Mutation	SNP	77756572	77756572	9574	7	T	C	C	57	57	MAGI2	C	4	4
SEMA3E	9723	broad.mit.edu	37	7	83014748	83014748	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:83014748C>A	uc003uhy.1	-	16	2203	c.1737G>T	c.(1735-1737)GGG>GGT	p.G579G		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	579					axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)																---	---	---	---	capture		Silent	SNP	83014748	83014748	14514	7	C	A	A	22	22	SEMA3E	A	2	2
AKAP9	10142	broad.mit.edu	37	7	91709280	91709280	+	Silent	SNP	A	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:91709280A>G	uc003ulg.2	+	31	8058	c.7833A>G	c.(7831-7833)TTA>TTG	p.L2611L	AKAP9_uc003ulf.2_Silent_p.L2603L|AKAP9_uc003uli.2_Silent_p.L2234L|AKAP9_uc003ulj.2_Silent_p.L381L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2623	Potential.|Glu-rich.				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		Silent	SNP	91709280	91709280	462	7	A	G	G	15	15	AKAP9	G	4	4
COL1A2	1278	broad.mit.edu	37	7	94050373	94050373	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:94050373C>A	uc003ung.1	+	38	2819	c.2348C>A	c.(2347-2349)CCT>CAT	p.P783H	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	783			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)										HNSCC(75;0.22)			---	---	---	---	capture		Missense_Mutation	SNP	94050373	94050373	3816	7	C	A	A	24	24	COL1A2	A	2	2
RELN	5649	broad.mit.edu	37	7	103214585	103214585	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103214585C>G	uc003vca.2	-	30	4625	c.4465G>C	c.(4465-4467)GGG>CGG	p.G1489R	RELN_uc010liz.2_Missense_Mutation_p.G1489R	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1489					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---	capture		Missense_Mutation	SNP	103214585	103214585	13689	7	C	G	G	21	21	RELN	G	3	3
LRRN3	54674	broad.mit.edu	37	7	110763735	110763735	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:110763735C>T	uc003vft.3	+	4	1953	c.907C>T	c.(907-909)CTT>TTT	p.L303F	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.L303F|LRRN3_uc003vfs.3_Missense_Mutation_p.L303F	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	303	Extracellular (Potential).|LRR 10.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)														---	---	---	---	capture		Missense_Mutation	SNP	110763735	110763735	9412	7	C	T	T	32	32	LRRN3	T	2	2
LRRN3	54674	broad.mit.edu	37	7	110763895	110763895	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:110763895C>G	uc003vft.3	+	4	2113	c.1067C>G	c.(1066-1068)TCT>TGT	p.S356C	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.S356C|LRRN3_uc003vfs.3_Missense_Mutation_p.S356C	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	356	Extracellular (Potential).|LRR 12.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)														---	---	---	---	capture		Missense_Mutation	SNP	110763895	110763895	9412	7	C	G	G	32	32	LRRN3	G	3	3
PAX4	5078	broad.mit.edu	37	7	127255120	127255120	+	Silent	SNP	T	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127255120T>C	uc010lld.1	-	2	356	c.150A>G	c.(148-150)CTA>CTG	p.L50L	PAX4_uc003vmf.2_Silent_p.L48L|PAX4_uc003vmg.1_Silent_p.L50L|PAX4_uc003vmh.2_Silent_p.L48L	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	58	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	127255120	127255120	11901	7	T	C	C	53	53	PAX4	C	4	4
OR2A5	393046	broad.mit.edu	37	7	143748242	143748242	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143748242C>A	uc011ktw.1	+	1	748	c.748C>A	c.(748-750)CTC>ATC	p.L250I		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)																	---	---	---	---	capture		Missense_Mutation	SNP	143748242	143748242	11387	7	C	A	A	20	20	OR2A5	A	2	2
GIMAP8	155038	broad.mit.edu	37	7	150164145	150164145	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150164145T>G	uc003whj.2	+	2	689	c.359T>G	c.(358-360)GTG>GGG	p.V120G		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	120						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)														---	---	---	---	capture		Missense_Mutation	SNP	150164145	150164145	6653	7	T	G	G	59	59	GIMAP8	G	4	4
INSIG1	3638	broad.mit.edu	37	7	155093317	155093317	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:155093317G>T	uc003wly.2	+	3	665	c.454G>T	c.(454-456)GGA>TGA	p.G152*	INSIG1_uc011kvu.1_Intron|INSIG1_uc003wlz.2_Intron	NM_005542	NP_005533	O15503	INSI1_HUMAN	insulin induced gene 1 isoform 1	152	Cytoplasmic.				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---	capture		Nonsense_Mutation	SNP	155093317	155093317	8066	7	G	T	T	39	39	INSIG1	T	5	1
NEIL2	252969	broad.mit.edu	37	8	11643507	11643507	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11643507G>T	uc003wug.2	+	5	1399	c.724G>T	c.(724-726)GGG>TGG	p.G242W	NEIL2_uc003wue.2_Missense_Mutation_p.G242W|NEIL2_uc003wuf.2_Missense_Mutation_p.G181W|NEIL2_uc011kxd.1_Missense_Mutation_p.G126W	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	242					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)									BER_DNA_glycosylases					---	---	---	---	capture		Missense_Mutation	SNP	11643507	11643507	10718	8	G	T	T	47	47	NEIL2	T	2	2
GSR	2936	broad.mit.edu	37	8	30539494	30539494	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30539494G>A	uc003xih.1	-	11	1329	c.1238C>T	c.(1237-1239)ACT>ATT	p.T413I		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	413					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	30539494	30539494	7108	8	G	A	A	36	36	GSR	A	2	2
ADAM18	8749	broad.mit.edu	37	8	39525607	39525607	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39525607C>G	uc003xni.2	+	14	1417	c.1417C>G	c.(1417-1419)CCT>GCT	p.P473A	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.P449A	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	473	Disintegrin.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)															---	---	---	---	capture		Missense_Mutation	SNP	39525607	39525607	240	8	C	G	G	30	30	ADAM18	G	3	3
HGSNAT	138050	broad.mit.edu	37	8	43037324	43037324	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:43037324A>T	uc003xpx.3	+	11	1097	c.1049A>T	c.(1048-1050)CAG>CTG	p.Q350L		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	378	Helical; (Potential).				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)															---	---	---	---	capture		Missense_Mutation	SNP	43037324	43037324	7372	8	A	T	T	7	7	HGSNAT	T	4	4
SNTG1	54212	broad.mit.edu	37	8	51664659	51664659	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:51664659G>C	uc010lxy.1	+	19	1754	c.1383G>C	c.(1381-1383)CAG>CAC	p.Q461H	SNTG1_uc003xqs.1_Missense_Mutation_p.Q461H|SNTG1_uc010lxz.1_Intron|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	461					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)																---	---	---	---	capture		Missense_Mutation	SNP	51664659	51664659	15374	8	G	C	C	33	33	SNTG1	C	3	3
CYP7A1	1581	broad.mit.edu	37	8	59404141	59404141	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59404141T>A	uc003xtm.3	-	6	1471	c.1408A>T	c.(1408-1410)ATA>TTA	p.I470L		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	470					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)												Neonatal_Giant_Cell_Hepatitis				---	---	---	---	capture		Missense_Mutation	SNP	59404141	59404141	4361	8	T	A	A	49	49	CYP7A1	A	4	4
NCOA2	10499	broad.mit.edu	37	8	71082563	71082563	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:71082563C>A	uc003xyn.1	-	6	577	c.415G>T	c.(415-417)GTG>TTG	p.V139L		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	139	PAS.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)					T	RUNXBP2	AML								---	---	---	---	capture		Missense_Mutation	SNP	71082563	71082563	10628	8	C	A	A	17	17	NCOA2	A	2	2
ZFHX4	79776	broad.mit.edu	37	8	77763640	77763640	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77763640C>A	uc003yav.2	+	10	4735	c.4348C>A	c.(4348-4350)CAC>AAC	p.H1450N	ZFHX4_uc003yau.1_Missense_Mutation_p.H1495N|ZFHX4_uc003yaw.1_Missense_Mutation_p.H1450N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1450						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)												HNSCC(33;0.089)			---	---	---	---	capture		Missense_Mutation	SNP	77763640	77763640	18223	8	C	A	A	21	21	ZFHX4	A	2	2
DCAF4L2	138009	broad.mit.edu	37	8	88885863	88885863	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:88885863G>A	uc003ydz.2	-	1	434	c.337C>T	c.(337-339)CGG>TGG	p.R113W		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	113										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	88885863	88885863	4443	8	G	A	A	39	39	DCAF4L2	A	1	1
RBM12B	389677	broad.mit.edu	37	8	94746211	94746211	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:94746211C>A	uc003yfz.2	-	3	2621	c.2428G>T	c.(2428-2430)GAC>TAC	p.D810Y		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	810							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)															---	---	---	---	capture		Missense_Mutation	SNP	94746211	94746211	13575	8	C	A	A	32	32	RBM12B	A	2	2
VPS13B	157680	broad.mit.edu	37	8	100513915	100513915	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100513915G>C	uc003yiv.2	+	26	3982	c.3871G>C	c.(3871-3873)GGA>CGA	p.G1291R	VPS13B_uc003yiw.2_Missense_Mutation_p.G1291R|VPS13B_uc003yiu.1_Missense_Mutation_p.G1291R|VPS13B_uc003yix.1_Missense_Mutation_p.G761R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1291					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)															---	---	---	---	capture		Missense_Mutation	SNP	100513915	100513915	17757	8	G	C	C	43	43	VPS13B	C	3	3
CSMD3	114788	broad.mit.edu	37	8	113668571	113668571	+	Splice_Site	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113668571C>A	uc003ynu.2	-	18	2976	c.2817_splice	c.e18-1	p.R939_splice	CSMD3_uc003yns.2_Splice_Site_p.R211_splice|CSMD3_uc003ynt.2_Splice_Site_p.R899_splice|CSMD3_uc011lhx.1_Splice_Site_p.R835_splice	NM_198123	NP_937756			CUB and Sushi multiple domains 3 isoform 1							integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---	capture		Splice_Site	SNP	113668571	113668571	4087	8	C	A	A	32	32	CSMD3	A	5	2
CSMD3	114788	broad.mit.edu	37	8	114111088	114111088	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:114111088C>A	uc003ynu.2	-	5	973	c.814G>T	c.(814-816)GTA>TTA	p.V272L	CSMD3_uc003ynt.2_Missense_Mutation_p.V232L|CSMD3_uc011lhx.1_Missense_Mutation_p.V272L|CSMD3_uc010mcx.1_Missense_Mutation_p.V272L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	272	Extracellular (Potential).|CUB 2.					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	114111088	114111088	4087	8	C	A	A	17	17	CSMD3	A	2	2
NOV	4856	broad.mit.edu	37	8	120431549	120431549	+	Silent	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120431549G>T	uc003yoq.2	+	4	962	c.741G>T	c.(739-741)CGG>CGT	p.R247R		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	247	TSP type-1.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---	capture		Silent	SNP	120431549	120431549	10957	8	G	T	T	42	42	NOV	T	2	2
ZHX2	22882	broad.mit.edu	37	8	123964442	123964442	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:123964442G>T	uc003ypk.1	+	3	1259	c.692G>T	c.(691-693)GGG>GTG	p.G231V		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	231	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)															---	---	---	---	capture		Missense_Mutation	SNP	123964442	123964442	18267	8	G	T	T	43	43	ZHX2	T	2	2
ZHX2	22882	broad.mit.edu	37	8	123964615	123964615	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:123964615C>A	uc003ypk.1	+	3	1432	c.865C>A	c.(865-867)CAG>AAG	p.Q289K		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	289	Required for interaction with NFYA.|Required for homodimerization.|Required for repressor activity.|Homeobox 1.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)															---	---	---	---	capture		Missense_Mutation	SNP	123964615	123964615	18267	8	C	A	A	21	21	ZHX2	A	2	2
KHDRBS3	10656	broad.mit.edu	37	8	136594138	136594138	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:136594138C>A	uc003yuv.2	+	6	1023	c.629C>A	c.(628-630)ACA>AAA	p.T210K	KHDRBS3_uc003yuw.2_Missense_Mutation_p.T210K|KHDRBS3_uc010mek.2_RNA	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	210					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)															---	---	---	---	capture		Missense_Mutation	SNP	136594138	136594138	8454	8	C	A	A	17	17	KHDRBS3	A	2	2
SLC1A1	6505	broad.mit.edu	37	9	4576030	4576030	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:4576030C>T	uc003zij.1	+	9	1141	c.905C>T	c.(904-906)CCG>CTG	p.P302L	C9orf68_uc003zik.2_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	solute carrier family 1, member 1	302	Helical; (Potential).				D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)													---	---	---	---	capture		Missense_Mutation	SNP	4576030	4576030	14927	9	C	T	T	23	23	SLC1A1	T	1	1
GLDC	2731	broad.mit.edu	37	9	6550883	6550883	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:6550883G>T	uc003zkc.2	-	21	2682	c.2489C>A	c.(2488-2490)ACG>AAG	p.T830K		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	830					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	6550883	6550883	6701	9	G	T	T	40	40	GLDC	T	1	1
PTPRD	5789	broad.mit.edu	37	9	8486189	8486189	+	Silent	SNP	T	C	C			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8486189T>C	uc003zkk.2	-	27	3339	c.2628A>G	c.(2626-2628)AAA>AAG	p.K876K	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.K867K|PTPRD_uc003zkm.2_Silent_p.K863K|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	876	Fibronectin type-III 6.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)											TSP Lung(15;0.13)			---	---	---	---	capture		Silent	SNP	8486189	8486189	13256	9	T	C	C	56	56	PTPRD	C	4	4
CER1	9350	broad.mit.edu	37	9	14720184	14720184	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14720184C>A	uc003zlj.2	-	2	753	c.708G>T	c.(706-708)GTG>GTT	p.V236V		NM_005454	NP_005445	O95813	CER1_HUMAN	cerberus 1 precursor	236	CTCK.				BMP signaling pathway	extracellular space	cytokine activity				0				GBM - Glioblastoma multiforme(50;3.16e-06)														---	---	---	---	capture		Silent	SNP	14720184	14720184	3398	9	C	A	A	21	21	CER1	A	2	2
TLN1	7094	broad.mit.edu	37	9	35720477	35720477	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35720477T>A	uc003zxt.2	-	12	1590	c.1236A>T	c.(1234-1236)GAA>GAT	p.E412D		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	412	Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---	capture		Missense_Mutation	SNP	35720477	35720477	16477	9	T	A	A	56	56	TLN1	A	4	4
ZCCHC7	84186	broad.mit.edu	37	9	37126431	37126431	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37126431A>T	uc003zzq.2	+	2	275	c.102A>T	c.(100-102)CAA>CAT	p.Q34H	ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Missense_Mutation_p.Q33H|ZCCHC7_uc010mlt.2_Missense_Mutation_p.Q33H|ZCCHC7_uc003zzs.1_Missense_Mutation_p.Q33H	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	34							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)														---	---	---	---	capture		Missense_Mutation	SNP	37126431	37126431	18181	9	A	T	T	2	2	ZCCHC7	T	4	4
VPS13A	23230	broad.mit.edu	37	9	79968365	79968365	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79968365A>G	uc004akr.2	+	54	7720	c.7460A>G	c.(7459-7461)TAT>TGT	p.Y2487C	VPS13A_uc004akp.3_Missense_Mutation_p.Y2487C|VPS13A_uc004akq.3_Missense_Mutation_p.Y2487C|VPS13A_uc004aks.2_Missense_Mutation_p.Y2448C	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2487					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	79968365	79968365	17756	9	A	G	G	16	16	VPS13A	G	4	4
HIATL1	84641	broad.mit.edu	37	9	97220614	97220614	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:97220614G>T	uc004aur.2	+	11	1406	c.1137G>T	c.(1135-1137)CAG>CAT	p.Q379H	HIATL1_uc011luh.1_Missense_Mutation_p.G282W	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	379	Extracellular (Potential).				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)																---	---	---	---	capture		Missense_Mutation	SNP	97220614	97220614	7383	9	G	T	T	35	35	HIATL1	T	2	2
ABCA1	19	broad.mit.edu	37	9	107645435	107645435	+	Silent	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107645435C>A	uc004bcl.2	-	5	619	c.306G>T	c.(304-306)GTG>GTT	p.V102V	ABCA1_uc004bcm.2_Silent_p.V42V	NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	102	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---	capture		Silent	SNP	107645435	107645435	29	9	C	A	A	21	21	ABCA1	A	2	2
TLR4	7099	broad.mit.edu	37	9	120476154	120476154	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:120476154G>T	uc004bjz.2	+	3	2039	c.1748G>T	c.(1747-1749)TGT>TTT	p.C583F	TLR4_uc004bka.2_Missense_Mutation_p.C543F|TLR4_uc004bkb.2_Missense_Mutation_p.C383F	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	583	LRRCT.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16																		---	---	---	---	capture		Missense_Mutation	SNP	120476154	120476154	16483	9	G	T	T	48	48	TLR4	T	2	2
CCBL1	883	broad.mit.edu	37	9	131599191	131599191	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131599191C>A	uc004bwh.2	-	7	763	c.578G>T	c.(577-579)AGG>ATG	p.R193M	CCBL1_uc004bwf.2_Missense_Mutation_p.R227M|CCBL1_uc004bwg.2_RNA|CCBL1_uc010myn.2_Missense_Mutation_p.R193M|CCBL1_uc004bwj.2_Missense_Mutation_p.R143M|CCBL1_uc011mbl.1_Missense_Mutation_p.R287M|CCBL1_uc004bwi.2_RNA|CCBL1_uc010myo.2_Missense_Mutation_p.R150M	NM_004059	NP_004050	Q16773	KAT1_HUMAN	kynurenine aminotransferase I isoform a	193					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	131599191	131599191	2852	9	C	A	A	24	24	CCBL1	A	2	2
PPP2R4	5524	broad.mit.edu	37	9	131885349	131885349	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131885349G>T	uc004bxm.1	+	3	415	c.148G>T	c.(148-150)GGA>TGA	p.G50*	PPP2R4_uc004bxl.1_Nonsense_Mutation_p.G50*|PPP2R4_uc011mbo.1_Nonsense_Mutation_p.G50*|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Nonsense_Mutation_p.G50*|PPP2R4_uc004bxo.1_Nonsense_Mutation_p.G50*|PPP2R4_uc011mbp.1_Intron|PPP2R4_uc011mbq.1_Nonsense_Mutation_p.G50*|PPP2R4_uc010mys.1_Nonsense_Mutation_p.G15*	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	50					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)														---	---	---	---	capture		Nonsense_Mutation	SNP	131885349	131885349	12827	9	G	T	T	39	39	PPP2R4	T	5	1
C9orf171	389799	broad.mit.edu	37	9	135357772	135357772	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135357772C>A	uc004cbn.2	+	2	319	c.271C>A	c.(271-273)CTT>ATT	p.L91I	C9orf171_uc004cbo.2_Intron	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	91										ovary(4)|large_intestine(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	135357772	135357772	2585	9	C	A	A	24	24	C9orf171	A	2	2
NELF	26012	broad.mit.edu	37	9	140347593	140347593	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140347593G>T	uc004cna.2	-	9	1194	c.962C>A	c.(961-963)GCC>GAC	p.A321D	C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Missense_Mutation_p.A118D|NELF_uc010nci.2_Missense_Mutation_p.A65D|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.A298D|NELF_uc004cmz.2_Missense_Mutation_p.A319D|NELF_uc004cnc.2_Missense_Mutation_p.A296D|NELF_uc004cnb.2_Missense_Mutation_p.A291D	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	321						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)														---	---	---	---	capture		Missense_Mutation	SNP	140347593	140347593	10731	9	G	T	T	42	42	NELF	T	2	2
CSF2RA	1438	broad.mit.edu	37	X	1407727	1407727	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1407727G>T	uc010nct.2	+	7	741	c.419G>T	c.(418-420)AGG>ATG	p.R140M	CSF2RA_uc011mhb.1_Missense_Mutation_p.R140M|CSF2RA_uc004cpq.2_Missense_Mutation_p.R140M|CSF2RA_uc004cpn.2_Missense_Mutation_p.R140M|CSF2RA_uc004cpo.2_Missense_Mutation_p.R140M|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.R7M|CSF2RA_uc004cpp.2_Missense_Mutation_p.R140M|CSF2RA_uc010ncv.2_Missense_Mutation_p.R140M|CSF2RA_uc004cpr.2_Missense_Mutation_p.R140M	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	140	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)													---	---	---	---	capture		Missense_Mutation	SNP	1407727	1407727	4075	23	G	T	T	35	35	CSF2RA	T	2	2
EDA2R	60401	broad.mit.edu	37	X	65824983	65824983	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:65824983C>A	uc004dwq.2	-	2	184	c.173G>T	c.(172-174)TGT>TTT	p.C58F	EDA2R_uc004dwr.2_Missense_Mutation_p.C58F|EDA2R_uc004dws.2_Missense_Mutation_p.C58F|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_Intron|EDA2R_uc010nkt.1_Missense_Mutation_p.C58F|EDA2R_uc004dwt.1_Missense_Mutation_p.C58F	NM_021783	NP_068555	Q9HAV5	TNR27_HUMAN	X-linked ectodysplasin receptor	58	Extracellular (Potential).|TNFR-Cys 2.				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	65824983	65824983	5091	23	C	A	A	17	17	EDA2R	A	2	2
IL1RAPL2	26280	broad.mit.edu	37	X	104440271	104440271	+	Missense_Mutation	SNP	C	A	A	rs146735893		TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:104440271C>A	uc004elz.1	+	3	953	c.197C>A	c.(196-198)ACG>AAG	p.T66K		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	66	Ig-like C2-type 1.|Extracellular (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	104440271	104440271	7963	23	C	A	A	19	19	IL1RAPL2	A	1	1
HTR2C	3358	broad.mit.edu	37	X	114141492	114141492	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2744-01	TCGA-66-2744-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:114141492G>T	uc004epu.1	+	6	1619	c.891G>T	c.(889-891)AGG>AGT	p.R297S	HTR2C_uc010nqc.1_Missense_Mutation_p.R297S|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	297	Cytoplasmic (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)													---	---	---	---	capture		Missense_Mutation	SNP	114141492	114141492	7743	23	G	T	T	43	43	HTR2C	T	2	2
