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	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	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
PYROXD2	84795	broad.mit.edu	37	10	100146994	100146994	+	Silent	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:100146994T>C	uc001kpc.2	-	c.1518A>G	c.(1516-1518)CCA>CCG	p.P506P	PYROXD2_uc001kpb.2_Non-coding_Transcript|PYROXD2_uc001kpd.2_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	506					oxidation-reduction process		oxidoreductase activity			central_nervous_system(1)	1														0.108434	6.908028	19.549388	9	74	KEEP	---	---	---	---	capture		Silent	SNP	100146994	100146994	13325	10	T	C	C	C	756	59	PYROXD2	4	4
ABCC2	1244	broad.mit.edu	37	10	101606846	101606846	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101606846G>T	uc001kqf.2	+	c.4275G>T	c.(4273-4275)GGG>GGT	p.G1425G		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	1425	Cytoplasmic (By similarity).|ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)									0.099415	12.547648	39.984736	17	154	KEEP	---	---	---	---	capture		Silent	SNP	101606846	101606846	54	10	G	T	T	T	561	44	ABCC2	2	2
NRAP	4892	broad.mit.edu	37	10	115405652	115405652	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115405652G>T	uc001lal.3	-	c.1042C>A	c.(1042-1044)CAC>AAC	p.H348N	NRAP_uc001laj.2_Missense_Mutation_p.H348N|NRAP_uc001lak.2_Missense_Mutation_p.H348N	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	348	Nebulin 8.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)	9		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)										0.25	99.888207	109.422024	42	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115405652	115405652	11043	10	G	T	T	T	585	45	NRAP	2	2
NRAP	4892	broad.mit.edu	37	10	115423132	115423132	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115423132T>C	uc001lal.3	-	c.146A>G	c.(145-147)CAG>CGG	p.Q49R	NRAP_uc001laj.2_Missense_Mutation_p.Q49R|NRAP_uc001lak.2_Missense_Mutation_p.Q49R	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	49	LIM zinc-binding.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)	9		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)										0.064516	-3.851118	8.378517	4	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115423132	115423132	11043	10	T	C	C	C	715	55	NRAP	4	4
DCLRE1A	9937	broad.mit.edu	37	10	115609774	115609774	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115609774T>A	uc001law.2	-	c.1090A>T	c.(1090-1092)AGC>TGC	p.S364C		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	364					cell division|mitosis	nucleus	hydrolase activity			skin(1)	1				Epithelial(162;0.0157)|all cancers(201;0.0171)										0.175141	65.912084	83.535129	31	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115609774	115609774	4465	10	T	A	A	A	715	55	DCLRE1A	3	3
PNLIPRP3	119548	broad.mit.edu	37	10	118204012	118204012	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118204012T>A	uc001lcl.3	+	c.443T>A	c.(442-444)ATT>AAT	p.I148N		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	148					lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)										0.19084	55.597883	67.303009	25	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118204012	118204012	12578	10	T	A	A	A	676	52	PNLIPRP3	3	3
KCNK18	338567	broad.mit.edu	37	10	118969762	118969762	+	Silent	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118969762T>A	uc010qsr.1	+	c.1107T>A	c.(1105-1107)GTT>GTA	p.V369V		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	369	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0		Colorectal(252;0.19)		all cancers(201;0.0211)										0.195804	56.686211	69.073537	28	115	KEEP	---	---	---	---	capture		Silent	SNP	118969762	118969762	8370	10	T	A	A	A	782	61	KCNK18	3	3
SEC61A2	55176	broad.mit.edu	37	10	12191875	12191875	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:12191875G>T	uc001ile.2	+	c.377G>T	c.(376-378)GGG>GTG	p.G126V	SEC61A2_uc010qbq.1_Missense_Mutation_p.G104V|SEC61A2_uc001ilf.3_Non-coding_Transcript|SEC61A2_uc001ilh.3_Non-coding_Transcript|SEC61A2_uc001ilg.3_Missense_Mutation_p.G126V	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Sec61 alpha form 2 isoform a	126	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1		Renal(717;0.228)												0.137405	24.969555	41.630174	18	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12191875	12191875	14487	10	G	T	T	T	559	43	SEC61A2	2	2
C10orf137	26098	broad.mit.edu	37	10	127414293	127414293	+	Silent	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:127414293A>T	uc001liq.1	+	c.678A>T	c.(676-678)GCA>GCT	p.A226A	C10orf137_uc001lin.2_Silent_p.A226A|C10orf137_uc001lio.1_Silent_p.A226A|C10orf137_uc001lip.1_5'UTR	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)	8		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)												0.128205	7.647546	12.900735	5	34	KEEP	---	---	---	---	capture		Silent	SNP	127414293	127414293	1631	10	A	T	T	T	80	7	C10orf137	3	3
ADARB2	105	broad.mit.edu	37	10	1313244	1313244	+	Silent	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:1313244G>C	uc009xhq.2	-	c.1098C>G	c.(1096-1098)TCC>TCG	p.S366S		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	366					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)						191				0.148936	12.39235	17.951017	7	40	KEEP	---	---	---	---	capture		Silent	SNP	1313244	1313244	284	10	G	C	C	C	548	43	ADARB2	3	3
OPTN	10133	broad.mit.edu	37	10	13175538	13175538	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:13175538G>T	uc001ilu.1	+	c.1569G>T	c.(1567-1569)GCG>GCT	p.A523A	OPTN_uc001ilv.1_Silent_p.A523A|OPTN_uc001ilw.1_Silent_p.A523A|OPTN_uc001ilx.1_Silent_p.A523A|OPTN_uc001ily.1_Silent_p.A517A|OPTN_uc010qbr.1_Silent_p.A466A|OPTN_uc001ilz.1_Silent_p.A517A	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	523	Interaction with HD.				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			ovary(2)	2														0.160494	24.030415	32.91279	13	68	KEEP	---	---	---	---	capture		Silent	SNP	13175538	13175538	11295	10	G	T	T	T	470	37	OPTN	1	1
FAM171A1	221061	broad.mit.edu	37	10	15254994	15254994	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15254994C>A	uc001iob.2	-	c.2593G>T	c.(2593-2595)GAT>TAT	p.D865Y		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	865	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)	3														0.18107	163.881299	210.377452	88	398	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15254994	15254994	5695	10	C	A	A	A	377	29	FAM171A1	2	2
ITGA8	8516	broad.mit.edu	37	10	15617565	15617565	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15617565G>A	uc001ioc.1	-	c.2401C>T	c.(2401-2403)CCC>TCC	p.P801S	ITGA8_uc010qcb.1_Missense_Mutation_p.P786S	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	801	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6														0.06383	-6.424872	12.180217	6	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15617565	15617565	8186	10	G	A	A	A	546	42	ITGA8	2	2
ITGA8	8516	broad.mit.edu	37	10	15730001	15730001	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15730001G>T	uc001ioc.1	-	c.380C>A	c.(379-381)CCT>CAT	p.P127H	ITGA8_uc010qcb.1_Missense_Mutation_p.P127H	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	127	Extracellular (Potential).|FG-GAP 2.				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6														0.20339	54.827876	64.470355	24	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15730001	15730001	8186	10	G	T	T	T	455	35	ITGA8	2	2
MLLT10	8028	broad.mit.edu	37	10	21962656	21962656	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:21962656G>T	uc001iqs.2	+	c.1429G>T	c.(1429-1431)GGG>TGG	p.G477W	MLLT10_uc001iqt.2_Missense_Mutation_p.G477W|MLLT10_uc001iqv.2_Non-coding_Transcript|MLLT10_uc001iqy.2_Missense_Mutation_p.G477W|MLLT10_uc001ira.2_5'UTR|MLLT10_uc001irb.2_Non-coding_Transcript|MLLT10_uc001iqz.2_Missense_Mutation_p.G232W	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	477	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			skin(1)	1										395				0.25	69.435596	75.807669	28	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21962656	21962656	10016	10	G	T	T	T	611	47	MLLT10	2	2
GPR158	57512	broad.mit.edu	37	10	25510017	25510017	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:25510017G>T	uc001isj.2	+	c.939G>T	c.(937-939)GTG>GTT	p.V313V		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	313	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)	7														0.208333	35.482084	41.156409	15	57	KEEP	---	---	---	---	capture		Silent	SNP	25510017	25510017	6938	10	G	T	T	T	600	47	GPR158	2	2
GPR158	57512	broad.mit.edu	37	10	25886893	25886893	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:25886893G>T	uc001isj.2	+	c.2338G>T	c.(2338-2340)GGC>TGC	p.G780C	GPR158_uc001isk.2_Missense_Mutation_p.G155C	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	780	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)	7														0.194444	59.006797	71.559623	28	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25886893	25886893	6938	10	G	T	T	T	611	47	GPR158	2	2
GPR158	57512	broad.mit.edu	37	10	25887673	25887673	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:25887673C>A	uc001isj.2	+	c.3118C>A	c.(3118-3120)CCC>ACC	p.P1040T	GPR158_uc001isk.2_Missense_Mutation_p.P415T	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	1040	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)	7														0.054545	-11.219543	11.760856	6	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25887673	25887673	6938	10	C	A	A	A	286	22	GPR158	2	2
ZNF438	220929	broad.mit.edu	37	10	31137881	31137881	+	Missense_Mutation	SNP	T	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:31137881T>G	uc010qdz.1	-	c.1453A>C	c.(1453-1455)AAC>CAC	p.N485H	ZNF438_uc001ivn.2_Missense_Mutation_p.N436H|ZNF438_uc010qdy.1_Missense_Mutation_p.N475H|ZNF438_uc001ivo.3_Missense_Mutation_p.N49H|ZNF438_uc009xlg.2_Missense_Mutation_p.N485H|ZNF438_uc001ivp.3_Missense_Mutation_p.N475H|ZNF438_uc010qea.1_Missense_Mutation_p.N485H|ZNF438_uc010qeb.1_Missense_Mutation_p.N485H|ZNF438_uc010qec.1_Missense_Mutation_p.N49H	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)												0.170543	111.249049	137.724356	44	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31137881	31137881	18503	10	T	G	G	G	819	63	ZNF438	4	4
ANKRD30A	91074	broad.mit.edu	37	10	37438728	37438728	+	Silent	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:37438728T>A	uc001iza.1	+	c.1428T>A	c.(1426-1428)TCT>TCA	p.S476S		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	532					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.117647	5.175004	10.061469	4	30	KEEP	---	---	---	---	capture		Silent	SNP	37438728	37438728	663	10	T	A	A	A	704	55	ANKRD30A	3	3
ANKRD30A	91074	broad.mit.edu	37	10	37508127	37508127	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:37508127C>A	uc001iza.1	+	c.3319C>A	c.(3319-3321)CAA>AAA	p.Q1107K		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1163	Potential.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.131579	7.046892	12.06149	5	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37508127	37508127	663	10	C	A	A	A	377	29	ANKRD30A	2	2
DIP2C	22982	broad.mit.edu	37	10	410378	410378	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:410378T>C	uc001ifp.2	-	c.2413A>G	c.(2413-2415)AAC>GAC	p.N805D	DIP2C_uc009xhi.1_Missense_Mutation_p.N191D|DIP2C_uc010pzz.1_Missense_Mutation_p.N126D	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	805						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)						1018				0.222222	47.493189	54.528614	22	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	410378	410378	4708	10	T	C	C	C	819	63	DIP2C	4	4
CSGALNACT2	55454	broad.mit.edu	37	10	43654172	43654172	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:43654172G>T	uc001jan.2	+	c.671G>T	c.(670-672)CGC>CTC	p.R224L	CSGALNACT2_uc001jam.1_Missense_Mutation_p.R224L	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	224	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1														0.147059	27.558848	39.7652	15	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43654172	43654172	4080	10	G	T	T	T	494	38	CSGALNACT2	1	1
AKR1E2	83592	broad.mit.edu	37	10	4879695	4879695	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:4879695G>T	uc001ihi.2	+	c.504G>T	c.(502-504)GGG>GGT	p.G168G	AKR1E2_uc001ihl.1_Non-coding_Transcript|AKR1E2_uc010qam.1_Silent_p.G129G|AKR1E2_uc001ihh.1_Silent_p.G168G|AKR1E2_uc009xhw.2_Intron|AKR1E2_uc001ihj.2_Non-coding_Transcript|AKR1E2_uc001ihk.2_Silent_p.G168G	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	168					oxidation-reduction process	cytoplasm	1,5-anhydro-D-fructose reductase activity				0						NSCLC(43;343 1097 20371 28813 45509)								0.3125	90.876946	94.386421	35	77	KEEP	---	---	---	---	capture		Silent	SNP	4879695	4879695	477	10	G	T	T	T	548	43	AKR1E2	2	2
PRKG1	5592	broad.mit.edu	37	10	54032160	54032160	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:54032160G>T	uc001jjo.2	+	c.1322G>T	c.(1321-1323)AGA>ATA	p.R441I	PRKG1_uc001jjm.2_Missense_Mutation_p.R426I|PRKG1_uc009xow.1_Missense_Mutation_p.R144I	NM_006258	NP_006249	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	426	Protein kinase.				actin cytoskeleton organization|platelet activation|protein phosphorylation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)						1247				0.111111	2.402574	6.444553	3	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54032160	54032160	12965	10	G	T	T	T	429	33	PRKG1	2	2
C10orf18	54906	broad.mit.edu	37	10	5782143	5782143	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:5782143G>T	uc001iij.2	+	c.2010G>T	c.(2008-2010)GAG>GAT	p.E670D	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	670										ovary(1)|central_nervous_system(1)	2														0.07377	-8.661308	36.909365	18	226	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5782143	5782143	1633	10	G	T	T	T	425	33	C10orf18	2	2
C10orf18	54906	broad.mit.edu	37	10	5790825	5790825	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:5790825G>T	uc001iij.2	+	c.5441G>T	c.(5440-5442)GGA>GTA	p.G1814V	C10orf18_uc001iik.2_Missense_Mutation_p.G658V	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1814										ovary(1)|central_nervous_system(1)	2														0.107143	6.430669	19.282163	9	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5790825	5790825	1633	10	G	T	T	T	533	41	C10orf18	2	2
FAM13C	220965	broad.mit.edu	37	10	61062572	61062572	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61062572C>A	uc010qif.1	-	c.562G>T	c.(562-564)GAC>TAC	p.D188Y	FAM13C_uc001jkn.2_Missense_Mutation_p.D166Y|FAM13C_uc001jko.2_Missense_Mutation_p.D166Y|FAM13C_uc010qid.1_Missense_Mutation_p.D83Y|FAM13C_uc010qie.1_Missense_Mutation_p.D83Y|FAM13C_uc001jkp.2_Missense_Mutation_p.D83Y	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	166										ovary(1)	1														0.171875	18.483708	24.999464	11	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61062572	61062572	5651	10	C	A	A	A	390	30	FAM13C	2	2
COL13A1	1305	broad.mit.edu	37	10	71665548	71665548	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:71665548C>A	uc001jpr.1	+	c.921C>A	c.(919-921)GAC>GAA	p.D307E	COL13A1_uc001jqj.1_Missense_Mutation_p.D307E|COL13A1_uc001jps.1_Missense_Mutation_p.D278E|COL13A1_uc001jpt.1_Missense_Mutation_p.D266E|COL13A1_uc001jpu.1_Missense_Mutation_p.D288E|COL13A1_uc001jpv.1_Missense_Mutation_p.D307E|COL13A1_uc001jpx.1_Missense_Mutation_p.D285E|COL13A1_uc001jpw.1_Missense_Mutation_p.D254E|COL13A1_uc001jpy.1_Missense_Mutation_p.D245E|COL13A1_uc001jpz.1_Missense_Mutation_p.D250E|COL13A1_uc001jqa.1_Missense_Mutation_p.D247E|COL13A1_uc001jqc.1_Missense_Mutation_p.D307E|COL13A1_uc001jqb.1_Missense_Mutation_p.D256E|COL13A1_uc001jql.2_Missense_Mutation_p.D307E|COL13A1_uc001jqd.1_Missense_Mutation_p.D295E|COL13A1_uc001jqe.1_Missense_Mutation_p.D290E|COL13A1_uc001jqf.1_Missense_Mutation_p.D288E|COL13A1_uc001jqg.1_Missense_Mutation_p.D285E|COL13A1_uc001jqh.1_Missense_Mutation_p.D307E|COL13A1_uc001jqi.1_Missense_Mutation_p.D307E|COL13A1_uc010qjf.1_Missense_Mutation_p.D97E|COL13A1_uc001jqk.1_Missense_Mutation_p.D145E	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	307	Extracellular (Potential).|Triple-helical region 2 (COL2).				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)									0.214286	20.450098	23.618745	9	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71665548	71665548	3808	10	C	A	A	A	233	18	COL13A1	2	2
PLAU	5328	broad.mit.edu	37	10	75673077	75673077	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:75673077G>T	uc001jwa.2	+	c.398G>T	c.(397-399)TGC>TTC	p.C133F	C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Missense_Mutation_p.C116F|PLAU_uc010qkx.1_Missense_Mutation_p.C47F|PLAU_uc001jwb.2_Non-coding_Transcript|PLAU_uc001jwc.2_Missense_Mutation_p.C133F|PLAU_uc009xrq.1_Missense_Mutation_p.C97F	NM_002658	NP_002649	P00749	UROK_HUMAN	plasminogen activator, urokinase isoform 1	133	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(2)|kidney(1)	3	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)									0.153846	38.319417	56.357091	24	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75673077	75673077	12448	10	G	T	T	T	598	46	PLAU	2	2
POLR3A	11128	broad.mit.edu	37	10	79753014	79753014	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:79753014C>T	uc001jzn.2	-	c.2728G>A	c.(2728-2730)GCA>ACA	p.A910T		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	910					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)											0.26087	83.420639	90.577562	36	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79753014	79753014	12656	10	C	T	T	T	325	25	POLR3A	2	2
ANXA11	311	broad.mit.edu	37	10	81923853	81923853	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:81923853C>A	uc010qlx.1	-	c.1205G>T	c.(1204-1206)CGC>CTC	p.R402L	ANXA11_uc001kbq.1_Missense_Mutation_p.R302L|ANXA11_uc001kbr.1_Missense_Mutation_p.R302L|ANXA11_uc001kbs.1_Missense_Mutation_p.R302L|ANXA11_uc001kbt.1_Missense_Mutation_p.R302L|ANXA11_uc010qly.1_Missense_Mutation_p.R269L|ANXA11_uc009xsq.1_Missense_Mutation_p.R306L|ANXA11_uc001kbu.1_Missense_Mutation_p.R302L	NM_145869	NP_665876	P50995	ANX11_HUMAN	annexin A11	302	Annexin 2.				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			ovary(1)	1	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)											0.088235	0.786608	18.317376	9	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81923853	81923853	724	10	C	A	A	A	351	27	ANXA11	1	1
LGI1	9211	broad.mit.edu	37	10	95557293	95557293	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:95557293G>T	uc001kjc.3	+	c.1407G>T	c.(1405-1407)CAG>CAT	p.Q469H	LGI1_uc010qnv.1_Missense_Mutation_p.Q421H|LGI1_uc001kjd.3_Intron|LGI1_uc009xui.2_Non-coding_Transcript|LGI1_uc001kje.2_Intron	NM_005097	NP_005088	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1 precursor	469	EAR 6.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.124)												0.104167	3.336333	10.823709	5	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95557293	95557293	9077	10	G	T	T	T	425	33	LGI1	2	2
PLCE1	51196	broad.mit.edu	37	10	95931134	95931134	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:95931134G>T	uc001kjk.2	+	c.1690G>T	c.(1690-1692)GGC>TGC	p.G564C	PLCE1_uc010qnx.1_Missense_Mutation_p.G564C|PLCE1_uc001kjm.2_Missense_Mutation_p.G256C	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	564	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|phospholipid metabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)												0.306452	99.194658	103.342351	38	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95931134	95931134	12460	10	G	T	T	T	559	43	PLCE1	2	2
TLL2	7093	broad.mit.edu	37	10	98156978	98156978	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98156978T>C	uc001kml.1	-	c.1349A>G	c.(1348-1350)AAC>AGC	p.N450S	TLL2_uc009xvf.1_Missense_Mutation_p.N428S	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	450	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)										0.242857	51.347029	55.561451	17	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98156978	98156978	16476	10	T	C	C	C	780	60	TLL2	4	4
KIAA1377	57562	broad.mit.edu	37	11	101832914	101832914	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:101832914G>C	uc001pgm.2	+	c.1148G>C	c.(1147-1149)TGT>TCT	p.C383S	KIAA1377_uc001pgn.2_Missense_Mutation_p.C339S|KIAA1377_uc010run.1_Missense_Mutation_p.C184S|KIAA1377_uc009yxa.1_Missense_Mutation_p.C184S	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	383							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)										0.1	4.367215	10.762993	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101832914	101832914	8536	11	G	C	C	C	624	48	KIAA1377	3	3
PDGFD	80310	broad.mit.edu	37	11	103814331	103814331	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:103814331C>A	uc001phq.2	-	c.621G>T	c.(619-621)GCG>GCT	p.A207A	PDGFD_uc001php.2_Silent_p.A201A	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	207					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			large_intestine(1)	1		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)										0.25	10.992575	11.901354	4	12	KEEP	---	---	---	---	capture		Silent	SNP	103814331	103814331	12081	11	C	A	A	A	288	23	PDGFD	1	1
ZC3H12C	85463	broad.mit.edu	37	11	110023660	110023660	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:110023660G>T	uc010rwc.1	+	c.793G>T	c.(793-795)GTA>TTA	p.V265L	ZC3H12C_uc009yxw.2_Missense_Mutation_p.V264L|ZC3H12C_uc010rwd.1_Missense_Mutation_p.V265L|ZC3H12C_uc001pkr.3_Missense_Mutation_p.V233L|ZC3H12C_uc001pkq.2_Missense_Mutation_p.V233L	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	264							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)										0.227273	12.462377	13.965007	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110023660	110023660	18151	11	G	T	T	T	468	36	ZC3H12C	2	2
ZC3H12C	85463	broad.mit.edu	37	11	110036179	110036179	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:110036179G>C	uc010rwc.1	+	c.2372G>C	c.(2371-2373)CGG>CCG	p.R791P	ZC3H12C_uc009yxw.2_Missense_Mutation_p.R790P|ZC3H12C_uc010rwd.1_Missense_Mutation_p.R791P|ZC3H12C_uc001pkr.3_Missense_Mutation_p.R759P	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	790							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)										0.218391	45.881848	52.238259	19	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110036179	110036179	18151	11	G	C	C	C	507	39	ZC3H12C	3	3
NCAM1	4684	broad.mit.edu	37	11	113105826	113105826	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113105826C>A	uc009yyq.1	+	c.1489C>A	c.(1489-1491)CTC>ATC	p.L497I		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	589	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)						700				0.357143	10.640023	10.904368	5	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113105826	113105826	10601	11	C	A	A	A	364	28	NCAM1	2	2
ZBTB16	7704	broad.mit.edu	37	11	113934732	113934732	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113934732G>T	uc001pop.2	+	c.710G>T	c.(709-711)GGG>GTG	p.G237V	ZBTB16_uc001poo.1_Missense_Mutation_p.G237V|ZBTB16_uc001poq.2_Missense_Mutation_p.G237V	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	237					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|specific transcriptional repressor activity|zinc ion binding			central_nervous_system(1)	1		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)						489				0.25	24.425732	26.703375	10	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113934732	113934732	18112	11	G	T	T	T	559	43	ZBTB16	2	2
DSCAML1	57453	broad.mit.edu	37	11	117335693	117335693	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117335693G>C	uc001prh.1	-	c.3410C>G	c.(3409-3411)TCT>TGT	p.S1137C		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1077	Extracellular (Potential).|Fibronectin type-III 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)	5	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)										0.126316	22.442119	35.379912	12	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117335693	117335693	4953	11	G	C	C	C	429	33	DSCAML1	3	3
TMPRSS4	56649	broad.mit.edu	37	11	117969814	117969814	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117969814G>T	uc010rxo.1	+	c.157_splice	c.e3+1	p.I53_splice	TMPRSS4_uc010rxp.1_Splice_Site_SNP_p.I53_splice|TMPRSS4_uc010rxq.1_Intron|TMPRSS4_uc010rxr.1_Splice_Site_SNP_p.I28_splice|TMPRSS4_uc010rxs.1_Intron|TMPRSS4_uc009yzu.2_Splice_Site_SNP|TMPRSS4_uc010rxt.1_Splice_Site_SNP_p.I28_splice	NM_019894	NP_063947			transmembrane protease, serine 4 isoform 1						proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)										0.184783	39.225623	47.793821	17	75	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	117969814	117969814	16790	11	G	T	T	T	468	36	TMPRSS4	5	2
IFT46	56912	broad.mit.edu	37	11	118428531	118428531	+	Silent	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118428531T>A	uc001pto.1	-	c.120A>T	c.(118-120)GCA>GCT	p.A40A	IFT46_uc001ptp.1_Intron|IFT46_uc009zaf.1_Silent_p.A40A	NM_020153	NP_064538	Q9NQC8	IFT46_HUMAN	IFT46	Error:Variant_position_missing_in_Q9NQC8_after_alignment					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding				0														0.11746	39.062995	84.381972	37	278	KEEP	---	---	---	---	capture		Silent	SNP	118428531	118428531	7861	11	T	A	A	A	808	63	IFT46	3	3
PHLDB1	23187	broad.mit.edu	37	11	118509715	118509715	+	Missense_Mutation	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118509715A>G	uc001ptr.1	+	c.2642A>G	c.(2641-2643)CAA>CGA	p.Q881R	PHLDB1_uc001pts.2_Missense_Mutation_p.Q881R|PHLDB1_uc001ptt.2_Missense_Mutation_p.Q881R|PHLDB1_uc001ptu.1_Non-coding_Transcript|PHLDB1_uc001ptv.1_Missense_Mutation_p.Q681R|PHLDB1_uc001ptw.1_Missense_Mutation_p.Q283R|PHLDB1_uc009zai.1_5'UTR|PHLDB1_uc001ptx.1_5'UTR|PHLDB1_uc010ryi.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	881											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)										0.2	17.305298	20.234865	7	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118509715	118509715	12275	11	A	G	G	G	65	5	PHLDB1	4	4
NLRX1	79671	broad.mit.edu	37	11	119044711	119044711	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119044711C>G	uc001pvu.2	+	c.753C>G	c.(751-753)TTC>TTG	p.F251L	NLRX1_uc010rzc.1_Missense_Mutation_p.F73L|NLRX1_uc001pvv.2_Missense_Mutation_p.F251L|NLRX1_uc001pvw.2_Missense_Mutation_p.F251L|NLRX1_uc001pvx.2_Missense_Mutation_p.F251L	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	251	Required for interaction with MAVS.|NACHT.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)	1	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)										0.214286	49.803734	56.135319	18	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119044711	119044711	10888	11	C	G	G	G	389	30	NLRX1	3	3
NLRX1	79671	broad.mit.edu	37	11	119045171	119045171	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119045171C>A	uc001pvu.2	+	c.859C>A	c.(859-861)CTG>ATG	p.L287M	NLRX1_uc010rzc.1_Missense_Mutation_p.L109M|NLRX1_uc001pvv.2_Missense_Mutation_p.L287M|NLRX1_uc001pvw.2_Missense_Mutation_p.L287M|NLRX1_uc001pvx.2_Missense_Mutation_p.L287M	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	287	Required for interaction with MAVS.|NACHT.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)	1	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)										0.133987	50.547312	90.340301	41	265	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119045171	119045171	10888	11	C	A	A	A	415	32	NLRX1	2	2
ARHGEF12	23365	broad.mit.edu	37	11	120348157	120348157	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120348157G>A	uc001pxl.1	+	c.3454G>A	c.(3454-3456)GGA>AGA	p.G1152R	ARHGEF12_uc009zat.2_Missense_Mutation_p.G1133R|ARHGEF12_uc010rzn.1_Missense_Mutation_p.G1049R|ARHGEF12_uc009zau.1_Missense_Mutation_p.G1049R	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1152					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)						1000				0.285714	29.134758	30.577339	10	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120348157	120348157	911	11	G	A	A	A	455	35	ARHGEF12	2	2
MUC5B	727897	broad.mit.edu	37	11	1271501	1271501	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1271501G>A	uc009ycr.1	+	c.14810G>A	c.(14809-14811)GGA>GAA	p.G4937E	MUC5B_uc001ltb.2_Missense_Mutation_p.G4467E	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4464	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)										0.252525	60.52542	66.033457	25	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1271501	1271501	10373	11	G	A	A	A	533	41	MUC5B	2	2
MUC5B	727897	broad.mit.edu	37	11	1281295	1281295	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1281295C>A	uc009ycr.1	+	c.17914C>A	c.(17914-17916)CCA>ACA	p.P5972T	MUC5B_uc001ltb.2_Missense_Mutation_p.P5638T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5635					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)										0.152941	19.318601	29.118143	13	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1281295	1281295	10373	11	C	A	A	A	286	22	MUC5B	2	2
ARHGAP32	9743	broad.mit.edu	37	11	128838969	128838970	+	Missense_Mutation	DNP	GC	AA	AA	rs117353412	by1000genomes	TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128838969_128838970GC>AA	uc009zcp.2	-	c.6096_6097GC>TT	c.(6094-6099)CTGCCT>CTTTCT	p.P2033S	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.P992S|ARHGAP32_uc001qez.2_Missense_Mutation_p.P1684S	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	2033	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5														0.122807	8.481728	16.422322	7	50	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	128838969	128838970	893	11	GC	AA	AA	AA	546	42	ARHGAP32	2	2
TOLLIP	54472	broad.mit.edu	37	11	1298328	1298328	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1298328G>T	uc001lte.2	-	c.766C>A	c.(766-768)CAG>AAG	p.Q256K	TOLLIP_uc001ltd.2_Missense_Mutation_p.Q187K|TOLLIP_uc009ycu.2_Missense_Mutation_p.Q195K|TOLLIP_uc001ltf.2_Missense_Mutation_p.Q206K	NM_019009	NP_061882	Q9H0E2	TOLIP_HUMAN	toll interacting protein	256	CUE.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding				0		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)										0.08642	2.828313	30.894993	14	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1298328	1298328	16891	11	G	T	T	T	611	47	TOLLIP	2	2
SOX6	55553	broad.mit.edu	37	11	15994452	15994452	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:15994452C>A	uc001mme.2	-	c.2429G>T	c.(2428-2430)GGA>GTA	p.G810V	SOX6_uc001mmd.2_Missense_Mutation_p.G773V|SOX6_uc001mmf.2_Missense_Mutation_p.G770V|SOX6_uc001mmg.2_Missense_Mutation_p.G777V	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	797					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3														0.24	94.762471	105.562057	42	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15994452	15994452	15455	11	C	A	A	A	390	30	SOX6	2	2
KRTAP5-3	387266	broad.mit.edu	37	11	1629527	1629527	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1629527C>T	uc001ltw.1	-	c.89G>A	c.(88-90)GGC>GAC	p.G30D		NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	30						keratin filament				ovary(2)	2		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)										0.106557	7.590717	26.258392	13	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1629527	1629527	8884	11	C	T	T	T	338	26	KRTAP5-3	2	2
MYOD1	4654	broad.mit.edu	37	11	17743008	17743008	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:17743008C>T	uc001mni.2	+	c.916C>T	c.(916-918)CAG>TAG	p.Q306*		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	306					muscle cell fate commitment|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of muscle cell differentiation|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3														0.175	9.793225	13.790486	7	33	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	17743008	17743008	10483	11	C	T	T	T	325	25	MYOD1	5	2
E2F8	79733	broad.mit.edu	37	11	19256308	19256308	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:19256308C>A	uc001mpm.2	-	c.749G>T	c.(748-750)GGA>GTA	p.G250V	E2F8_uc009yhv.2_Non-coding_Transcript|E2F8_uc001mpn.3_Missense_Mutation_p.G250V	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	250					cell cycle|regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity				0														0.09	2.091721	19.06293	9	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19256308	19256308	5059	11	C	A	A	A	390	30	E2F8	2	2
TNNT3	7140	broad.mit.edu	37	11	1953727	1953727	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1953727G>T	uc001luu.3	+	c.154G>T	c.(154-156)GAG>TAG	p.E52*	TNNT3_uc001lun.2_Intron|TNNT3_uc001luw.3_Nonsense_Mutation_p.E44*|TNNT3_uc001luo.3_Nonsense_Mutation_p.E44*|TNNT3_uc001lup.3_Nonsense_Mutation_p.E50*|TNNT3_uc001luq.3_Nonsense_Mutation_p.E44*|TNNT3_uc001lur.2_Nonsense_Mutation_p.E44*|TNNT3_uc010qxf.1_Nonsense_Mutation_p.E50*|TNNT3_uc010qxg.1_5'UTR|TNNT3_uc001lut.1_Non-coding_Transcript|TNNT3_uc001lus.1_Non-coding_Transcript	NM_006757	NP_006748	P45378	TNNT3_HUMAN	troponin T3, skeletal, fast isoform 1	63					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding				0		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)										0.166667	42.820578	59.905306	27	135	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	1953727	1953727	16873	11	G	T	T	T	533	41	TNNT3	5	2
ANO5	203859	broad.mit.edu	37	11	22272361	22272361	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:22272361G>T	uc001mqi.2	+	c.1088G>T	c.(1087-1089)TGG>TTG	p.W363L	ANO5_uc001mqj.2_Missense_Mutation_p.W362L	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	363	Extracellular (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4														0.060606	-6.83612	13.137843	6	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22272361	22272361	708	11	G	T	T	T	611	47	ANO5	2	2
C11orf41	25758	broad.mit.edu	37	11	33564725	33564725	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33564725G>C	uc001mup.3	+	c.725G>C	c.(724-726)AGA>ACA	p.R242T	C11orf41_uc001mun.1_Missense_Mutation_p.R242T	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	242						integral to membrane				ovary(2)	2												OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.282895	140.06181	146.495851	43	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33564725	33564725	1679	11	G	C	C	C	429	33	C11orf41	3	3
PKP3	11187	broad.mit.edu	37	11	397119	397119	+	Silent	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:397119C>G	uc001lpc.2	+	c.618C>G	c.(616-618)GCC>GCG	p.A206A		NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	plakophilin 3	206					cell adhesion	desmosome|nucleus	binding			skin(1)	1		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)										0.277778	27.236979	28.835076	10	26	KEEP	---	---	---	---	capture		Silent	SNP	397119	397119	12411	11	C	G	G	G	262	21	PKP3	3	3
LRRC4C	57689	broad.mit.edu	37	11	40137638	40137638	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:40137638C>A	uc001mxa.1	-	c.205G>T	c.(205-207)GAG>TAG	p.E69*	LRRC4C_uc001mxc.1_Nonsense_Mutation_p.E65*|LRRC4C_uc001mxd.1_Nonsense_Mutation_p.E65*|LRRC4C_uc001mxb.1_Nonsense_Mutation_p.E65*	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	69	LRRNT.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5		all_lung(304;0.0575)|Lung NSC(402;0.138)												0.10989	8.777591	22.492152	10	81	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	40137638	40137638	9383	11	C	A	A	A	377	29	LRRC4C	5	2
ALKBH3	221120	broad.mit.edu	37	11	43940650	43940650	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:43940650G>C	uc001mxs.2	+	c.732G>C	c.(730-732)TTG>TTC	p.L244F	ALKBH3_uc009ykp.2_Non-coding_Transcript|ALKBH3_uc001mxt.2_Non-coding_Transcript|ALKBH3_uc009ykq.2_Missense_Mutation_p.L97F	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	AlkB homolog 3	244	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)									0.116883	31.240804	53.470893	18	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43940650	43940650	531	11	G	C	C	C	620	48	ALKBH3	3	3
OR4A47	403253	broad.mit.edu	37	11	48510594	48510594	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:48510594T>A	uc010rhx.1	+	c.250T>A	c.(250-252)TTC>ATC	p.F84I		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.08547	1.30575	21.651489	10	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48510594	48510594	11448	11	T	A	A	A	780	60	OR4A47	3	3
OR51S1	119692	broad.mit.edu	37	11	4869647	4869647	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4869647G>T	uc010qyo.1	-	c.792C>A	c.(790-792)CTC>CTA	p.L264L		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	264	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.146341	33.277405	53.013225	24	140	KEEP	---	---	---	---	capture		Silent	SNP	4869647	4869647	11515	11	G	T	T	T	522	41	OR51S1	2	2
FOLH1	2346	broad.mit.edu	37	11	49168457	49168457	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:49168457C>T	uc001ngy.2	-	c.2104G>A	c.(2104-2106)GGG>AGG	p.G702R	FOLH1_uc001ngx.2_Silent_p.Q101Q|FOLH1_uc001ngz.2_Missense_Mutation_p.G671R|FOLH1_uc009yly.2_Missense_Mutation_p.G687R|FOLH1_uc009ylz.2_Missense_Mutation_p.G656R|FOLH1_uc009yma.2_Missense_Mutation_p.G394R	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	702	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)	1					Capromab(DB00089)|L-Glutamic Acid(DB00142)									0.240602	84.215095	92.399047	32	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49168457	49168457	6221	11	C	T	T	T	312	24	FOLH1	2	2
OR51G1	79324	broad.mit.edu	37	11	4945394	4945394	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4945394C>A	uc010qyr.1	-	c.176G>T	c.(175-177)GGA>GTA	p.G59V		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	59	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.25	33.184365	36.605403	15	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4945394	4945394	11508	11	C	A	A	A	390	30	OR51G1	2	2
MMP26	56547	broad.mit.edu	37	11	5011951	5011951	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5011951C>T	uc001lzv.2	+	c.444C>T	c.(442-444)GAC>GAT	p.D148D		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	matrix metalloproteinase 26 preproprotein	148					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)										0.098901	4.406548	19.050727	9	82	KEEP	---	---	---	---	capture		Silent	SNP	5011951	5011951	10054	11	C	T	T	T	220	17	MMP26	2	2
OR52J3	119679	broad.mit.edu	37	11	5068575	5068575	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5068575C>A	uc010qyv.1	+	c.820C>A	c.(820-822)CAC>AAC	p.H274N		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	274	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.070922	-6.072865	20.705307	10	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5068575	5068575	11532	11	C	A	A	A	377	29	OR52J3	2	2
OR52A4	390053	broad.mit.edu	37	11	5142299	5142299	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5142299A>T	uc001lzz.1	-	c.510T>A	c.(508-510)CAT>CAA	p.H170Q		NM_001005222	NP_001005222	A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)										0.232558	25.928557	28.744058	10	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5142299	5142299	11519	11	A	T	T	T	154	12	OR52A4	3	3
OR52A4	390053	broad.mit.edu	37	11	5142639	5142639	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5142639G>A	uc001lzz.1	-	c.170C>T	c.(169-171)CCA>CTA	p.P57L	OR52A4_uc001maa.2_Non-coding_Transcript	NM_001005222	NP_001005222	A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A,	57	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)										0.205128	34.153894	40.447825	16	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5142639	5142639	11519	11	G	A	A	A	611	47	OR52A4	2	2
OR51I1	390063	broad.mit.edu	37	11	5462385	5462385	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5462385C>G	uc010qze.1	-	c.360G>C	c.(358-360)ATG>ATC	p.M120I	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I,	120	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.113924	14.314296	25.928103	9	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5462385	5462385	11510	11	C	G	G	G	377	29	OR51I1	3	3
OR4C6	219432	broad.mit.edu	37	11	55432961	55432961	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55432961G>T	uc001nht.3	+	c.319G>T	c.(319-321)GGT>TGT	p.G107C	OR4C6_uc010rik.1_Missense_Mutation_p.G107C	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.237624	56.443918	62.800955	24	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55432961	55432961	11459	11	G	T	T	T	611	47	OR4C6	2	2
OR5AS1	219447	broad.mit.edu	37	11	55798170	55798170	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55798170C>A	uc010riw.1	+	c.276C>A	c.(274-276)ATC>ATA	p.I92I		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)	4	Esophageal squamous(21;0.00693)													0.1875	11.529071	14.457534	6	26	KEEP	---	---	---	---	capture		Silent	SNP	55798170	55798170	11556	11	C	A	A	A	408	32	OR5AS1	2	2
OR8H3	390152	broad.mit.edu	37	11	55890270	55890270	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55890270G>T	uc001nii.1	+	c.422G>T	c.(421-423)TGC>TTC	p.C141F		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)													0.15942	38.653549	53.91064	22	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55890270	55890270	11650	11	G	T	T	T	598	46	OR8H3	2	2
OR5J2	282775	broad.mit.edu	37	11	55944578	55944578	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55944578G>T	uc010rjb.1	+	c.485G>T	c.(484-486)AGC>ATC	p.S162I		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	162	Extracellular (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)													0.205128	15.47145	18.625702	8	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55944578	55944578	11575	11	G	T	T	T	442	34	OR5J2	2	2
OR5M9	390162	broad.mit.edu	37	11	56230095	56230096	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56230095_56230096GG>TT	uc010rjj.1	-	c.782_783CC>AA	c.(781-783)CCC>CAA	p.P261Q		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(21;0.00448)													0.240741	33.245074	36.559407	13	41	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	56230095	56230096	11587	11	GG	TT	TT	TT	600	47	OR5M9	2	2
OR5M10	390167	broad.mit.edu	37	11	56344738	56344738	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56344738G>T	uc001niz.1	-	c.460C>A	c.(460-462)CTT>ATT	p.L154I		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.066667	-5.220612	12.299096	6	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56344738	56344738	11583	11	G	T	T	T	455	35	OR5M10	2	2
OR9G9	504191	broad.mit.edu	37	11	56468589	56468589	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56468589C>A	uc010rjn.1	+	c.726C>A	c.(724-726)TCC>TCA	p.S242S		NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN	olfactory receptor, family 9, subfamily G,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.085973	1.152601	39.558886	19	202	KEEP	---	---	---	---	capture		Silent	SNP	56468589	56468589	11663	11	C	A	A	A	275	22	OR9G9	2	2
OR5AK2	390181	broad.mit.edu	37	11	56756596	56756596	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56756596G>T	uc010rjp.1	+	c.208G>T	c.(208-210)GAT>TAT	p.D70Y		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3														0.138889	7.748571	12.287276	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56756596	56756596	11552	11	G	T	T	T	585	45	OR5AK2	2	2
OR1S2	219958	broad.mit.edu	37	11	57971092	57971092	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57971092G>T	uc010rkb.1	-	c.562C>A	c.(562-564)CCA>ACA	p.P188T		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S,	188	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)												0.28972	152.463653	160.945318	62	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57971092	57971092	11379	11	G	T	T	T	559	43	OR1S2	2	2
OR52N5	390075	broad.mit.edu	37	11	5799305	5799305	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5799305T>A	uc010qzn.1	-	c.560A>T	c.(559-561)TAC>TTC	p.Y187F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)										0.141176	18.249704	28.804853	12	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5799305	5799305	11540	11	T	A	A	A	741	57	OR52N5	3	3
OR52N5	390075	broad.mit.edu	37	11	5799752	5799752	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5799752G>T	uc010qzn.1	-	c.113C>A	c.(112-114)CCA>CAA	p.P38Q	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)										0.097345	5.729459	24.099865	11	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5799752	5799752	11540	11	G	T	T	T	611	47	OR52N5	2	2
OR5AN1	390195	broad.mit.edu	37	11	59132758	59132758	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59132758C>T	uc010rks.1	+	c.827C>T	c.(826-828)TCT>TTT	p.S276F		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.147059	37.902486	54.182805	20	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59132758	59132758	11553	11	C	T	T	T	416	32	OR5AN1	2	2
OR4D6	219983	broad.mit.edu	37	11	59225307	59225307	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59225307C>A	uc010rku.1	+	c.874C>A	c.(874-876)CAA>AAA	p.Q292K		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	292	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.167364	74.146153	99.214238	40	199	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59225307	59225307	11465	11	C	A	A	A	377	29	OR4D6	2	2
MS4A6A	64231	broad.mit.edu	37	11	59943065	59943065	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59943065C>A	uc001nos.3	-	c.443G>T	c.(442-444)GGA>GTA	p.G148V	MS4A6A_uc001noq.2_Missense_Mutation_p.G120V|MS4A6A_uc001nor.2_Missense_Mutation_p.G120V|MS4A6A_uc009ymv.2_Missense_Mutation_p.G120V|MS4A6A_uc001not.2_Missense_Mutation_p.G120V|MS4A6A_uc010rla.1_Missense_Mutation_p.G148V|MS4A6A_uc010rlb.1_Missense_Mutation_p.G75V	NM_152852	NP_690591	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member	120	Helical; (Potential).					integral to membrane	receptor activity				0														0.116667	8.179952	16.856045	7	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59943065	59943065	10257	11	C	A	A	A	390	30	MS4A6A	2	2
MS4A14	84689	broad.mit.edu	37	11	60184275	60184275	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60184275C>A	uc001npj.2	+	c.1834C>A	c.(1834-1836)CAA>AAA	p.Q612K	MS4A14_uc001npi.2_Missense_Mutation_p.Q500K|MS4A14_uc001npn.2_Missense_Mutation_p.Q350K|MS4A14_uc001npk.2_Missense_Mutation_p.Q595K|MS4A14_uc001npl.2_Missense_Mutation_p.Q350K|MS4A14_uc001npm.2_Missense_Mutation_p.Q350K	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	612	Gln-rich.					integral to membrane	receptor activity			breast(1)	1														0.241379	17.009999	18.779813	7	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60184275	60184275	10251	11	C	A	A	A	273	21	MS4A14	2	2
DDB1	1642	broad.mit.edu	37	11	61091481	61091481	+	Silent	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61091481G>C	uc001nrc.3	-	c.891C>G	c.(889-891)CTC>CTG	p.L297L	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.L297L|DDB1_uc010rlg.1_Non-coding_Transcript|DDB1_uc001nrd.2_Silent_p.L297L|DDB1_uc009ynl.1_Silent_p.L184L	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	297	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|central_nervous_system(1)	3														0.05	-14.346957	20.036122	8	152	KEEP	---	---	---	---	capture		Silent	SNP	61091481	61091481	4494	11	G	C	C	C	574	45	DDB1	3	3
SDHAF2	54949	broad.mit.edu	37	11	61197628	61197628	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61197628T>C	uc001nrt.2	+	c.10T>C	c.(10-12)TCT>CCT	p.S4P	CPSF7_uc001nro.2_5'Flank|CPSF7_uc001nrp.2_5'Flank|CPSF7_uc001nrq.2_5'Flank|CPSF7_uc001nrr.2_5'Flank|CPSF7_uc001nrs.1_5'Flank|CPSF7_uc009ynp.2_5'Flank	NM_017841	NP_060311	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor	4					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			ovary(2)	2														0.111111	1.454186	8.458149	5	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61197628	61197628	14450	11	T	C	C	C	754	58	SDHAF2	4	4
SLC22A11	55867	broad.mit.edu	37	11	64329846	64329846	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64329846G>A	uc001oai.2	+	c.760G>A	c.(760-762)GAC>AAC	p.D254N	SLC22A11_uc001oah.1_Missense_Mutation_p.G219E|SLC22A11_uc001oaj.2_Missense_Mutation_p.D254N|SLC22A11_uc009ypq.2_Missense_Mutation_p.D254N|SLC22A11_uc001oak.1_Missense_Mutation_p.D83N	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	254	Extracellular (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)									0.312057	230.767788	239.653989	88	194	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64329846	64329846	14938	11	G	A	A	A	533	41	SLC22A11	2	2
DNHD1	144132	broad.mit.edu	37	11	6520073	6520073	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6520073G>A	uc001mdw.3	+	c.628G>A	c.(628-630)GTG>ATG	p.V210M	DNHD1_uc001mdp.2_Missense_Mutation_p.V210M	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	210					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)										0.086957	1.852629	33.641234	16	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6520073	6520073	4851	11	G	A	A	A	624	48	DNHD1	2	2
SF3B2	10992	broad.mit.edu	37	11	65824773	65824773	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65824773C>T	uc001ogy.1	+	c.704C>T	c.(703-705)ACA>ATA	p.T235I		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	235					interspecies interaction between organisms|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3														0.125	29.261535	67.909964	35	245	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65824773	65824773	14640	11	C	T	T	T	221	17	SF3B2	2	2
CD248	57124	broad.mit.edu	37	11	66082936	66082936	+	Nonsense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66082936A>T	uc001ohm.1	-	c.1563T>A	c.(1561-1563)TAT>TAA	p.Y521*		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	521	Pro-rich.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)									0.151079	33.787812	50.000366	21	118	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	66082936	66082936	3117	11	A	T	T	T	154	12	CD248	5	3
CCS	9973	broad.mit.edu	37	11	66368020	66368020	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66368020G>T	uc001oir.2	+	c.489G>T	c.(487-489)CGG>CGT	p.R163R	CCS_uc001ois.2_Non-coding_Transcript	NM_005125	NP_005116	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	163	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytoplasm|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding				0														0.124324	25.802879	51.333969	23	162	KEEP	---	---	---	---	capture		Silent	SNP	66368020	66368020	3079	11	G	T	T	T	548	43	CCS	2	2
CARNS1	57571	broad.mit.edu	37	11	67190960	67190960	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67190960G>A	uc001olc.3	+	c.1789G>A	c.(1789-1791)GAG>AAG	p.E597K	PPP1CA_uc001okx.1_5'Flank|CARNS1_uc009yrp.2_Missense_Mutation_p.E458K	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	458					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0														0.163636	14.519364	20.470092	9	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67190960	67190960	2775	11	G	A	A	A	429	33	CARNS1	2	2
SYT9	143425	broad.mit.edu	37	11	7441832	7441832	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7441832G>T	uc001mfe.2	+	c.1433G>T	c.(1432-1434)CGG>CTG	p.R478L	SYT9_uc001mfd.2_Non-coding_Transcript|SYT9_uc009yfi.2_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	478	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)										0.12	20.239045	37.943379	15	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7441832	7441832	16002	11	G	T	T	T	507	39	SYT9	1	1
UVRAG	7405	broad.mit.edu	37	11	75718610	75718610	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:75718610C>T	uc001oxc.2	+	c.944C>T	c.(943-945)ACA>ATA	p.T315I	UVRAG_uc010rrw.1_Missense_Mutation_p.T214I|UVRAG_uc001oxd.2_5'UTR|UVRAG_uc010rrx.1_5'UTR|UVRAG_uc009yuh.1_Non-coding_Transcript	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	315					DNA repair	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6														0.212121	46.715881	54.303971	21	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75718610	75718610	17673	11	C	T	T	T	221	17	UVRAG	2	2
LRRC32	2615	broad.mit.edu	37	11	76370954	76370954	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76370954G>T	uc001oxq.3	-	c.1683C>A	c.(1681-1683)ACC>ACA	p.T561T	LRRC32_uc001oxr.3_Silent_p.T561T|LRRC32_uc010rsf.1_Silent_p.T547T	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	561	Extracellular (Potential).					integral to plasma membrane					0														0.106383	3.542016	10.775855	5	42	KEEP	---	---	---	---	capture		Silent	SNP	76370954	76370954	9362	11	G	T	T	T	600	47	LRRC32	2	2
TSKU	25987	broad.mit.edu	37	11	76507338	76507338	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76507338G>A	uc001oxt.2	+	c.678G>A	c.(676-678)GCG>GCA	p.A226A		NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	tsukushin precursor	226	LRR 7.					extracellular region					0	Ovarian(111;0.112)													0.271845	144.388865	154.076702	56	150	KEEP	---	---	---	---	capture		Silent	SNP	76507338	76507338	17178	11	G	A	A	A	496	39	TSKU	1	1
MYO7A	4647	broad.mit.edu	37	11	76872033	76872033	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76872033G>T	uc001oyb.2	+	c.1215G>T	c.(1213-1215)CGG>CGT	p.R405R	MYO7A_uc010rsl.1_Silent_p.R405R|MYO7A_uc010rsm.1_Silent_p.R394R|MYO7A_uc001oyc.2_Silent_p.R405R	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	405	Myosin head-like.				actin filament-based movement|equilibrioception|eye photoreceptor cell development|lysosome organization|response to stimulus|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4														0.384615	13.270691	13.422832	5	8	KEEP	---	---	---	---	capture		Silent	SNP	76872033	76872033	10477	11	G	T	T	T	535	42	MYO7A	2	2
MYO7A	4647	broad.mit.edu	37	11	76910853	76910853	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76910853C>T	uc001oyb.2	+	c.4842C>T	c.(4840-4842)AAC>AAT	p.N1614N	MYO7A_uc010rsm.1_Silent_p.N1565N|MYO7A_uc001oyc.2_Silent_p.N1576N|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.N787N	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1614	SH3.				actin filament-based movement|equilibrioception|eye photoreceptor cell development|lysosome organization|response to stimulus|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4														0.205882	15.405576	18.133285	7	27	KEEP	---	---	---	---	capture		Silent	SNP	76910853	76910853	10477	11	C	T	T	T	233	18	MYO7A	2	2
GDPD4	220032	broad.mit.edu	37	11	76996134	76996134	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76996134C>A	uc001oyf.2	-	c.49G>T	c.(49-51)GAC>TAC	p.D17Y		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain	17	Cytoplasmic (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0														0.163636	15.036207	20.952437	9	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76996134	76996134	6594	11	C	A	A	A	377	29	GDPD4	2	2
ALG8	79053	broad.mit.edu	37	11	77825338	77825338	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:77825338G>C	uc001oza.1	-	c.647C>G	c.(646-648)TCC>TGC	p.S216C	ALG8_uc001oyz.1_Missense_Mutation_p.S216C|ALG8_uc009yux.1_Missense_Mutation_p.S114C|ALG8_uc009yuy.1_Non-coding_Transcript	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	dolichyl pyrophosphate Glc1Man9GlcNAc2	216					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|pancreas(1)	3	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)											0.153846	37.928411	49.844999	16	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77825338	77825338	526	11	G	C	C	C	533	41	ALG8	3	3
NLRP10	338322	broad.mit.edu	37	11	7982253	7982253	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7982253G>A	uc001mfv.1	-	c.906C>T	c.(904-906)CCC>CCT	p.P302P		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	302	NACHT.						ATP binding			lung(4)|ovary(2)|kidney(1)|pancreas(1)	8				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)						109				0.116466	39.355066	75.345834	29	220	KEEP	---	---	---	---	capture		Silent	SNP	7982253	7982253	10875	11	G	A	A	A	444	35	NLRP10	2	2
NLRP10	338322	broad.mit.edu	37	11	7982257	7982257	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7982257T>C	uc001mfv.1	-	c.902A>G	c.(901-903)GAG>GGG	p.E301G		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	301	NACHT.						ATP binding			lung(4)|ovary(2)|kidney(1)|pancreas(1)	8				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)						109				0.110204	36.848895	73.700904	27	218	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7982257	7982257	10875	11	T	C	C	C	702	54	NLRP10	4	4
TYR	7299	broad.mit.edu	37	11	88924513	88924513	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:88924513C>A	uc001pcs.2	+	c.963C>A	c.(961-963)TGC>TGA	p.C321*		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	321	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|oxidation-reduction process|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)									0.120482	12.189139	23.914816	10	73	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	88924513	88924513	17370	11	C	A	A	A	337	26	TYR	5	2
FAT3	120114	broad.mit.edu	37	11	92085508	92085508	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92085508G>T	uc001pdj.3	+	c.230G>T	c.(229-231)TGG>TTG	p.W77L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	77	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.12766	8.314305	14.66922	6	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92085508	92085508	5927	11	G	T	T	T	611	47	FAT3	2	2
DENND5A	23258	broad.mit.edu	37	11	9225561	9225561	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:9225561C>A	uc001mhl.2	-	c.595G>T	c.(595-597)GAC>TAC	p.D199Y	DENND5A_uc010rbw.1_Missense_Mutation_p.D199Y|DENND5A_uc010rbx.1_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	199										liver(1)	1														0.161616	24.725481	35.529252	16	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9225561	9225561	4615	11	C	A	A	A	390	30	DENND5A	2	2
FAT3	120114	broad.mit.edu	37	11	92533122	92533122	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92533122G>T	uc001pdj.3	+	c.6943G>T	c.(6943-6945)GAC>TAC	p.D2315Y		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2315	Cadherin 21.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.454545	43.219031	43.278685	15	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92533122	92533122	5927	11	G	T	T	T	429	33	FAT3	2	2
FAT3	120114	broad.mit.edu	37	11	92616436	92616436	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92616436C>T	uc001pdj.3	+	c.12814C>T	c.(12814-12816)CGC>TGC	p.R4272C	FAT3_uc001pdi.3_Missense_Mutation_p.R712C	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4272	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.356322	178.277018	181.408151	62	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92616436	92616436	5927	11	C	T	T	T	299	23	FAT3	1	1
CLEC1B	51266	broad.mit.edu	37	12	10147844	10147844	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:10147844T>A	uc001qwu.2	-	c.440A>T	c.(439-441)GAG>GTG	p.E147V	CLEC1B_uc009zhd.2_Missense_Mutation_p.E114V	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B isoform	147	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity				0														0.164835	20.460955	30.182756	15	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10147844	10147844	3643	12	T	A	A	A	702	54	CLEC1B	3	3
NT5DC3	51559	broad.mit.edu	37	12	104171766	104171766	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104171766G>A	uc010swe.1	-	c.1488C>T	c.(1486-1488)TTC>TTT	p.F496F	NT5DC3_uc010swd.1_5'Flank	NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	496							hydrolase activity|metal ion binding			ovary(2)|skin(1)	3														0.054795	-14.021996	16.460403	8	138	KEEP	---	---	---	---	capture		Silent	SNP	104171766	104171766	11097	12	G	A	A	A	477	37	NT5DC3	1	1
HCFC2	29915	broad.mit.edu	37	12	104496743	104496743	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104496743G>A	uc001tkj.3	+	c.2071G>A	c.(2071-2073)GAA>AAA	p.E691K	HCFC2_uc009zul.2_Non-coding_Transcript	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	691	Fibronectin type-III 3.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|central_nervous_system(1)	3						Esophageal Squamous(184;1814 2036 4771 6974 15702)								0.3	30.183635	31.613766	12	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104496743	104496743	7275	12	G	A	A	A	585	45	HCFC2	2	2
C12orf45	121053	broad.mit.edu	37	12	105388402	105388402	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:105388402G>T	uc001tlb.2	+	c.486G>T	c.(484-486)AAG>AAT	p.K162N		NM_152318	NP_689531	Q8N5I9	CL045_HUMAN	hypothetical protein LOC121053	162											0														0.104167	3.936001	11.422756	5	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105388402	105388402	1735	12	G	T	T	T	438	34	C12orf45	2	2
WSCD2	9671	broad.mit.edu	37	12	108641767	108641767	+	Splice_Site_SNP	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108641767G>C	uc001tms.2	+	c.1346_splice	c.e9-1	p.E449_splice	WSCD2_uc001tmt.2_Splice_Site_SNP_p.E449_splice|WSCD2_uc001tmu.2_Splice_Site_SNP_p.E217_splice	NM_014653	NP_055468			WSC domain containing 2							integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3														0.12766	22.130753	34.836101	12	82	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	108641767	108641767	17981	12	G	C	C	C	429	33	WSCD2	5	3
CORO1C	23603	broad.mit.edu	37	12	109042473	109042473	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109042473C>A	uc009zva.2	-	c.1372G>T	c.(1372-1374)GTC>TTC	p.V458F	CORO1C_uc001tnj.2_Missense_Mutation_p.V405F|CORO1C_uc010sxf.1_Missense_Mutation_p.V368F	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	405					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(2)	2														0.125	20.013361	37.598549	16	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109042473	109042473	3893	12	C	A	A	A	234	18	CORO1C	2	2
CCDC63	160762	broad.mit.edu	37	12	111291371	111291371	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:111291371A>T	uc001trv.1	+	c.172A>T	c.(172-174)AGT>TGT	p.S58C	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Missense_Mutation_p.S18C|CCDC63_uc001trw.1_Intron	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	58	Potential.			RQQFRKMVESRKSFKFRNQQKIASQY -> VGSAVAAAVGQ AARAATDKQSGPRHC (in Ref. 2; AAH64580).						ovary(1)|pancreas(1)	2														0.096386	3.739227	17.2958	8	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111291371	111291371	2957	12	A	T	T	T	143	11	CCDC63	3	3
TAS2R31	259290	broad.mit.edu	37	12	11183830	11183830	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:11183830C>A	uc001qzo.1	-	c.105G>T	c.(103-105)CGG>CGT	p.R35R	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176885	NP_795366	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	35	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0														0.148649	13.933404	22.792856	11	63	KEEP	---	---	---	---	capture		Silent	SNP	11183830	11183830	16096	12	C	A	A	A	275	22	TAS2R31	2	2
SDS	10993	broad.mit.edu	37	12	113836547	113836547	+	Missense_Mutation	SNP	T	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113836547T>G	uc001tvg.2	-	c.298A>C	c.(298-300)AAG>CAG	p.K100Q	SDS_uc001tvh.1_Missense_Mutation_p.K100Q	NM_006843	NP_006834	P20132	SDHL_HUMAN	serine dehydratase	100					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			pancreas(1)	1					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)									0.068376	-1.193465	21.346457	8	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113836547	113836547	14461	12	T	G	G	G	819	63	SDS	4	4
MED13L	23389	broad.mit.edu	37	12	116434322	116434322	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:116434322C>A	uc001tvw.2	-	c.2955G>T	c.(2953-2955)CTG>CTT	p.L985L		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	985					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		RNA polymerase II transcription mediator activity			skin(3)|ovary(1)|lung(1)	5	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)						497				0.296875	46.883156	49.257458	19	45	KEEP	---	---	---	---	capture		Silent	SNP	116434322	116434322	9820	12	C	A	A	A	314	25	MED13L	2	2
TCTN2	79867	broad.mit.edu	37	12	124175131	124175131	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:124175131A>T	uc001ufp.2	+	c.943A>T	c.(943-945)AAT>TAT	p.N315Y	TCTN2_uc009zya.2_Missense_Mutation_p.N314Y	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	tectonic family member 2 isoform 1	315	Extracellular (Potential).					integral to membrane				ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)										0.077586	-3.712038	17.481671	9	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124175131	124175131	16249	12	A	T	T	T	65	5	TCTN2	3	3
GLT1D1	144423	broad.mit.edu	37	12	129373263	129373263	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:129373263C>A	uc010tbh.1	+	c.264C>A	c.(262-264)GTC>GTA	p.V88V	GLT1D1_uc001uhx.1_Silent_p.V99V|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	99					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)										0.088889	0.361661	8.050791	4	41	KEEP	---	---	---	---	capture		Silent	SNP	129373263	129373263	6733	12	C	A	A	A	366	29	GLT1D1	2	2
PIWIL1	9271	broad.mit.edu	37	12	130841624	130841624	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:130841624G>C	uc001uik.2	+	c.1566G>C	c.(1564-1566)ATG>ATC	p.M522I	PIWIL1_uc001uij.1_Missense_Mutation_p.M522I	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	522					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)										0.25	27.029477	29.302679	10	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130841624	130841624	12381	12	G	C	C	C	611	47	PIWIL1	3	3
DDX51	317781	broad.mit.edu	37	12	132624412	132624412	+	Silent	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:132624412T>C	uc001ujy.3	-	c.1833A>G	c.(1831-1833)AAA>AAG	p.K611K		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	611	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)										0.248588	137.418997	147.589747	44	133	KEEP	---	---	---	---	capture		Silent	SNP	132624412	132624412	4540	12	T	C	C	C	725	56	DDX51	4	4
POLE	5426	broad.mit.edu	37	12	133248877	133248877	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133248877C>A	uc001uks.1	-	c.1718G>T	c.(1717-1719)CGG>CTG	p.R573L	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.R546L	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	573					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)										0.092857	8.790686	32.117992	13	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133248877	133248877	12624	12	C	A	A	A	299	23	POLE	1	1
ZNF268	10795	broad.mit.edu	37	12	133768117	133768117	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133768117G>T	uc010tcf.1	+	c.277G>T	c.(277-279)GAG>TAG	p.E93*	ZNF268_uc010tbv.1_5'UTR|ZNF268_uc010tbw.1_Intron|ZNF268_uc010tbx.1_Intron|ZNF268_uc010tby.1_Intron|ZNF268_uc010tbz.1_Intron|ZNF268_uc010tca.1_5'UTR|ZNF268_uc010tcb.1_Intron|ZNF268_uc010tcc.1_Intron|ZNF268_uc010tcd.1_5'UTR|ZNF268_uc010tce.1_Intron|ZNF268_uc010tcg.1_5'UTR|ZNF268_uc010tch.1_Nonsense_Mutation_p.E93*	NM_003415	NP_003406	Q14587	ZN268_HUMAN	zinc finger protein 268 isoform a	93	KRAB.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)										0.333333	40.680016	41.862838	16	32	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	133768117	133768117	18399	12	G	T	T	T	533	41	ZNF268	5	2
GRIN2B	2904	broad.mit.edu	37	12	13719990	13719990	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:13719990C>A	uc001rbt.2	-	c.2567G>T	c.(2566-2568)GGC>GTC	p.G856V		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	856	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|lung(2)|skin(1)	10					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					371				0.265306	31.645833	34.09123	13	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13719990	13719990	7059	12	C	A	A	A	338	26	GRIN2B	2	2
ABCC9	10060	broad.mit.edu	37	12	22078928	22078928	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:22078928C>A	uc001rfh.2	-	c.354G>T	c.(352-354)TCG>TCT	p.S118S	ABCC9_uc001rfi.1_Silent_p.S118S|ABCC9_uc001rfj.1_Silent_p.S118S|ABCC9_uc001rfk.2_Silent_p.S118S|ABCC9_uc001rfl.1_Silent_p.S118S	NM_020297	NP_064693	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	118	Helical; Name=3; (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)	4					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.168675	24.797186	33.427781	14	69	KEEP	---	---	---	---	capture		Silent	SNP	22078928	22078928	60	12	C	A	A	A	392	31	ABCC9	1	1
C12orf71	728858	broad.mit.edu	37	12	27235077	27235077	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:27235077G>T	uc001rhq.2	-	c.340C>A	c.(340-342)CTG>ATG	p.L114M		NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	hypothetical protein LOC728858	114											0														0.257143	21.256211	23.129357	9	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27235077	27235077	1757	12	G	T	T	T	451	35	C12orf71	2	2
CACNA1C	775	broad.mit.edu	37	12	2786312	2786312	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2786312C>A	uc009zdu.1	+	c.5025C>A	c.(5023-5025)TAC>TAA	p.Y1675*	CACNA1C_uc009zdv.1_Nonsense_Mutation_p.Y1624*|CACNA1C_uc001qkb.2_Nonsense_Mutation_p.Y1627*|CACNA1C_uc001qkc.2_Nonsense_Mutation_p.Y1646*|CACNA1C_uc001qke.2_Nonsense_Mutation_p.Y1616*|CACNA1C_uc001qkf.2_Nonsense_Mutation_p.Y1635*|CACNA1C_uc001qjz.2_Nonsense_Mutation_p.Y1627*|CACNA1C_uc001qkd.2_Nonsense_Mutation_p.Y1646*|CACNA1C_uc001qkg.2_Nonsense_Mutation_p.Y1633*|CACNA1C_uc009zdw.1_Nonsense_Mutation_p.Y1668*|CACNA1C_uc001qkh.2_Nonsense_Mutation_p.Y1635*|CACNA1C_uc001qkl.2_Nonsense_Mutation_p.Y1675*|CACNA1C_uc001qkn.2_Nonsense_Mutation_p.Y1627*|CACNA1C_uc001qko.2_Nonsense_Mutation_p.Y1647*|CACNA1C_uc001qkp.2_Nonsense_Mutation_p.Y1627*|CACNA1C_uc001qkr.2_Nonsense_Mutation_p.Y1644*|CACNA1C_uc001qku.2_Nonsense_Mutation_p.Y1627*|CACNA1C_uc001qkq.2_Nonsense_Mutation_p.Y1655*|CACNA1C_uc001qks.2_Nonsense_Mutation_p.Y1627*|CACNA1C_uc001qkt.2_Nonsense_Mutation_p.Y1646*|CACNA1C_uc001qki.1_Nonsense_Mutation_p.Y1363*|CACNA1C_uc001qkj.1_Nonsense_Mutation_p.Y1363*|CACNA1C_uc001qkk.1_Nonsense_Mutation_p.Y1363*|CACNA1C_uc001qkm.1_Nonsense_Mutation_p.Y1352*|CACNA1C_uc010sea.1_Nonsense_Mutation_p.Y318*|CACNA1C_uc001qky.1_5'Flank	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1675	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)									0.295455	35.289399	36.918326	13	31	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	2786312	2786312	2656	12	C	A	A	A	259	20	CACNA1C	5	2
OVCH1	341350	broad.mit.edu	37	12	29617594	29617594	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29617594G>T	uc001rix.1	-	c.1971C>A	c.(1969-1971)AAC>AAA	p.N657K		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	657	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)													0.089552	5.890934	28.686032	12	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29617594	29617594	11736	12	G	T	T	T	620	48	OVCH1	2	2
OVCH1	341350	broad.mit.edu	37	12	29648245	29648245	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29648245G>T	uc001rix.1	-	c.427C>A	c.(427-429)CTG>ATG	p.L143M		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	143	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)													0.110577	22.159043	53.375203	23	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29648245	29648245	11736	12	G	T	T	T	438	34	OVCH1	2	2
TMTC1	83857	broad.mit.edu	37	12	29904726	29904726	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29904726G>A	uc001rjb.2	-	c.487C>T	c.(487-489)CGG>TGG	p.R163W	TMTC1_uc001rjc.1_Missense_Mutation_p.R163W	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	163						integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)													0.074627	0.123781	12.564157	5	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29904726	29904726	16801	12	G	A	A	A	506	39	TMTC1	1	1
C12orf35	55196	broad.mit.edu	37	12	32137492	32137492	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32137492G>T	uc001rks.2	+	c.3603G>T	c.(3601-3603)GAG>GAT	p.E1201D	C12orf35_uc001rkt.2_5'Flank	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1201										ovary(1)	1	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)											0.089552	2.391598	25.190814	12	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32137492	32137492	1726	12	G	T	T	T	425	33	C12orf35	2	2
PKP2	5318	broad.mit.edu	37	12	32955375	32955375	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32955375C>T	uc001rlj.3	-	c.2261G>A	c.(2260-2262)AGG>AAG	p.R754K	PKP2_uc001rlk.3_Missense_Mutation_p.R710K|PKP2_uc010skj.1_Missense_Mutation_p.R707K	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	754	ARM 6.				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)													0.124601	60.823538	103.91271	39	274	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32955375	32955375	12410	12	C	T	T	T	312	24	PKP2	2	2
SYT10	341359	broad.mit.edu	37	12	33559893	33559893	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:33559893G>T	uc001rll.1	-	c.908C>A	c.(907-909)CCT>CAT	p.P303H	SYT10_uc009zju.1_Missense_Mutation_p.P113H	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	303	Cytoplasmic (Potential).|C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)	1	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)													0.272727	30.277804	32.328269	12	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33559893	33559893	15987	12	G	T	T	T	455	35	SYT10	2	2
ALG10	84920	broad.mit.edu	37	12	34175689	34175689	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:34175689A>T	uc001rlm.2	+	c.155A>T	c.(154-156)CAT>CTT	p.H52L		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	52	Extracellular (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity				0	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)												0.109589	59.5098	136.559674	56	455	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34175689	34175689	514	12	A	T	T	T	104	8	ALG10	3	3
ALG10	84920	broad.mit.edu	37	12	34177036	34177036	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:34177036G>C	uc001rlm.2	+	c.311G>C	c.(310-312)AGT>ACT	p.S104T		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	104	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity				0	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)												0.10559	53.105305	102.873095	34	288	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34177036	34177036	514	12	G	C	C	C	468	36	ALG10	3	3
ANO6	196527	broad.mit.edu	37	12	45742320	45742320	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:45742320G>T	uc010slf.1	+	c.716G>T	c.(715-717)CGG>CTG	p.R239L	ANO6_uc001roo.2_Missense_Mutation_p.R218L|ANO6_uc010sld.1_Missense_Mutation_p.R218L|ANO6_uc010sle.1_Missense_Mutation_p.R218L|ANO6_uc010slg.1_Missense_Mutation_p.R200L	NM_001142678	NP_001136150	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform b	218	Cytoplasmic (Potential).				activation of blood coagulation via clotting cascade	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2														0.157895	29.561731	40.167303	15	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45742320	45742320	709	12	G	T	T	T	507	39	ANO6	1	1
HDAC7	51564	broad.mit.edu	37	12	48188652	48188652	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48188652G>A	uc010slo.1	-	c.1349C>T	c.(1348-1350)ACA>ATA	p.T450I	HDAC7_uc009zku.2_5'Flank|HDAC7_uc001rqe.2_5'Flank|HDAC7_uc001rqj.3_Missense_Mutation_p.T413I|HDAC7_uc001rqk.3_Missense_Mutation_p.T433I	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	411	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)										0.199074	75.653819	93.954231	43	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48188652	48188652	7295	12	G	A	A	A	624	48	HDAC7	2	2
TUBA1A	7846	broad.mit.edu	37	12	49579227	49579227	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49579227G>A	uc009zlf.2	-	c.922C>T	c.(922-924)CGC>TGC	p.R308C	TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Missense_Mutation_p.R308C|TUBA1A_uc001rtq.2_Missense_Mutation_p.R155C|TUBA1A_uc001rtr.2_Missense_Mutation_p.R155C|TUBA1A_uc009zlg.2_Missense_Mutation_p.R155C	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	308				R -> G (in Ref. 1; CAA25855 and 7; AAA91575).	'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity				0						Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)								0.094737	4.206459	19.873742	9	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49579227	49579227	17298	12	G	A	A	A	481	37	TUBA1A	1	1
TROAP	10024	broad.mit.edu	37	12	49724561	49724561	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49724561G>C	uc009zlh.2	+	c.1933G>C	c.(1933-1935)GAG>CAG	p.E645Q	TROAP_uc001rtx.3_Missense_Mutation_p.E645Q|TROAP_uc001rty.2_Missense_Mutation_p.E324Q	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	645	4.|Cys-rich.|4 X 33 AA approximate tandem repeats.				cell adhesion	cytoplasm				ovary(1)	1														0.123656	41.19282	66.955362	23	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49724561	49724561	17126	12	G	C	C	C	429	33	TROAP	3	3
KRT72	140807	broad.mit.edu	37	12	52994912	52994912	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52994912G>T	uc001sar.2	-	c.325C>A	c.(325-327)CCG>ACG	p.P109T	KRT72_uc001saq.2_Missense_Mutation_p.P109T|KRT72_uc010sns.1_Missense_Mutation_p.P109T|KRT72_uc010snt.1_5'UTR	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	109	Head.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)										0.153226	30.849867	45.116571	19	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52994912	52994912	8800	12	G	T	T	T	559	43	KRT72	2	2
MAP3K12	7786	broad.mit.edu	37	12	53876886	53876886	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53876886G>A	uc001sdn.1	-	c.1701C>T	c.(1699-1701)CCC>CCT	p.P567P	MAP3K12_uc001sdm.1_Silent_p.P534P	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	534					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)	4										178				0.279279	73.573676	78.45091	31	80	KEEP	---	---	---	---	capture		Silent	SNP	53876886	53876886	9629	12	G	A	A	A	548	43	MAP3K12	2	2
KIAA0748	9840	broad.mit.edu	37	12	55357527	55357527	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55357527G>T	uc001sgn.3	-	c.654C>A	c.(652-654)GCC>GCA	p.A218A	KIAA0748_uc001sgl.3_Silent_p.A80A|KIAA0748_uc001sgm.3_5'UTR|KIAA0748_uc010spb.1_Intron|KIAA0748_uc010spc.1_Silent_p.A80A|KIAA0748_uc010spd.1_Silent_p.A218A|KIAA0748_uc001sgo.3_Intron	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	218										ovary(1)|central_nervous_system(1)	2														0.259259	17.511486	18.929529	7	20	KEEP	---	---	---	---	capture		Silent	SNP	55357527	55357527	8497	12	G	T	T	T	600	47	KIAA0748	2	2
RAB5B	5869	broad.mit.edu	37	12	56385939	56385939	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56385939G>T	uc001siv.2	+	c.591G>T	c.(589-591)CGG>CGT	p.R197R	RAB5B_uc001siw.2_Silent_p.R197R|RAB5B_uc009zog.2_Silent_p.R137R|RAB5B_uc010spz.1_Silent_p.R156R	NM_002868	NP_002859	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	197					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)											0.065041	-7.195659	16.972597	8	115	KEEP	---	---	---	---	capture		Silent	SNP	56385939	56385939	13408	12	G	T	T	T	548	43	RAB5B	2	2
HSD17B6	8630	broad.mit.edu	37	12	57178691	57178691	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57178691C>G	uc001smg.1	+	c.627C>G	c.(625-627)TTC>TTG	p.F209L		NM_003725	NP_003716	O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	209					androgen biosynthetic process|androgen catabolic process|oxidation-reduction process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase activity			pancreas(1)	1					Succinic acid(DB00139)									0.060417	-17.927172	78.99397	29	451	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57178691	57178691	7682	12	C	G	G	G	376	29	HSD17B6	3	3
RDH16	8608	broad.mit.edu	37	12	57351015	57351015	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57351015C>A	uc001smi.3	-	c.232G>T	c.(232-234)GAG>TAG	p.E78*	RDH16_uc009zpa.2_Missense_Mutation_p.G19V|RDH16_uc010sqx.1_Non-coding_Transcript	NM_003708	NP_003699	O75452	RDH16_HUMAN	retinol dehydrogenase 16	78	Cytoplasmic (Potential).				lipid metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity				0						GBM(179;741 2921 43105 45298)								0.115385	8.232822	23.38996	12	92	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	57351015	57351015	13663	12	C	A	A	A	390	30	RDH16	5	2
MYO1A	4640	broad.mit.edu	37	12	57432685	57432685	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57432685G>A	uc001smw.3	-	c.1441C>T	c.(1441-1443)CAC>TAC	p.H481Y	MYO1A_uc010sqz.1_Missense_Mutation_p.H319Y|MYO1A_uc009zpd.2_Missense_Mutation_p.H481Y	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	481	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|urinary_tract(1)|skin(1)	4														0.126316	16.129941	29.080587	12	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57432685	57432685	10463	12	G	A	A	A	611	47	MYO1A	2	2
LRP1	4035	broad.mit.edu	37	12	57589477	57589478	+	Missense_Mutation	DNP	GC	TG	TG			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57589477_57589478GC>TG	uc001snd.2	+	c.8474_8475GC>TG	c.(8473-8475)TGC>TTG	p.C2825L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2825	LDL-receptor class A 18.|Extracellular (Potential).				apoptotic cell clearance|multicellular organismal development|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein particle receptor binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(7)|large_intestine(2)|pancreas(2)|skin(1)|central_nervous_system(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)					1456				0.234043	51.294741	57.386705	22	72	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	57589477	57589478	9324	12	GC	TG	TG	TG	598	46	LRP1	2	2
AGAP2	116986	broad.mit.edu	37	12	58121759	58121759	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:58121759G>A	uc001spq.2	-	c.2727C>T	c.(2725-2727)ATC>ATT	p.I909I	AGAP2_uc001spo.1_5'Flank|AGAP2_uc001spp.2_Silent_p.I908I|AGAP2_uc001spr.2_Silent_p.I553I|LOC100130776_uc001sps.3_3'UTR	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	909	PH.				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										257				0.121622	51.514918	103.427999	45	325	KEEP	---	---	---	---	capture		Silent	SNP	58121759	58121759	370	12	G	A	A	A	525	41	AGAP2	2	2
SRGAP1	57522	broad.mit.edu	37	12	64519834	64519834	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:64519834G>T	uc010ssp.1	+	c.2302G>T	c.(2302-2304)GCC>TCC	p.A768S	SRGAP1_uc001srv.2_Missense_Mutation_p.A705S	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	768	SH3.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)										0.11215	12.523203	28.421862	12	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64519834	64519834	15659	12	G	T	T	T	598	46	SRGAP1	2	2
EMG1	10436	broad.mit.edu	37	12	7083817	7083817	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7083817G>A	uc001qsh.3	+	c.374G>A	c.(373-375)CGA>CAA	p.R125Q	EMG1_uc009zfo.2_Intron|EMG1_uc010sfv.1_Non-coding_Transcript	NM_006331	NP_006322	Q92979	NEP1_HUMAN	ribosome biogenesis protein NEP1	125		Interaction with substrate rRNA (By similarity).			ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding				0														0.122807	8.282015	16.223196	7	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7083817	7083817	5282	12	G	A	A	A	481	37	EMG1	1	1
LGR5	8549	broad.mit.edu	37	12	71946859	71946859	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71946859G>T	uc001swl.2	+	c.435G>T	c.(433-435)CTG>CTT	p.L145L	LGR5_uc001swm.2_Silent_p.L145L|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	145	LRR 4.|Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			ovary(1)|pancreas(1)	2										516				0.118182	15.197755	30.954461	13	97	KEEP	---	---	---	---	capture		Silent	SNP	71946859	71946859	9083	12	G	T	T	T	600	47	LGR5	2	2
OSBPL8	114882	broad.mit.edu	37	12	76752583	76752583	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:76752583G>A	uc001sye.1	-	c.2337C>T	c.(2335-2337)GTC>GTT	p.V779V	OSBPL8_uc001syf.1_Silent_p.V737V|OSBPL8_uc001syg.1_Silent_p.V737V	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	779					lipid transport		lipid binding			ovary(1)	1														0.1125	9.713536	21.578342	9	71	KEEP	---	---	---	---	capture		Silent	SNP	76752583	76752583	11694	12	G	A	A	A	522	41	OSBPL8	2	2
E2F7	144455	broad.mit.edu	37	12	77419548	77419548	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:77419548C>A	uc001sym.3	-	c.2355G>T	c.(2353-2355)TTG>TTT	p.L785F	E2F7_uc009zse.2_Intron	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	785					cell cycle|regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|identical protein binding			ovary(1)|kidney(1)	2														0.161765	20.906767	28.285706	11	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77419548	77419548	5058	12	C	A	A	A	324	25	E2F7	2	2
C12orf50	160419	broad.mit.edu	37	12	88379804	88379804	+	Nonsense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:88379804T>A	uc001tam.1	-	c.949A>T	c.(949-951)AAA>TAA	p.K317*	C12orf50_uc001tan.2_Nonsense_Mutation_p.K332*	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	317										ovary(1)	1														0.085937	1.836312	24.070024	11	117	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	88379804	88379804	1739	12	T	A	A	A	793	61	C12orf50	5	3
C12orf12	196477	broad.mit.edu	37	12	91348265	91348265	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:91348265C>A	uc001tbj.2	-	c.255G>T	c.(253-255)TGG>TGT	p.W85C		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	85										central_nervous_system(1)|pancreas(1)	2														0.171053	21.649876	29.412414	13	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91348265	91348265	1720	12	C	A	A	A	286	22	C12orf12	2	2
PLXNC1	10154	broad.mit.edu	37	12	94642069	94642069	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:94642069G>A	uc001tdc.2	+	c.2659G>A	c.(2659-2661)GGG>AGG	p.G887R		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	887	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3														0.326531	82.254205	84.876498	32	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94642069	94642069	12552	12	G	A	A	A	611	47	PLXNC1	2	2
CLYBL	171425	broad.mit.edu	37	13	100425245	100425245	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:100425245G>T	uc001vok.2	+	c.230G>T	c.(229-231)GGA>GTA	p.G77V	CLYBL_uc010tix.1_Missense_Mutation_p.G77V|CLYBL_uc010tiy.1_Missense_Mutation_p.G77V	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like precursor	77					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.115385	12.019753	30.981106	15	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100425245	100425245	3711	13	G	T	T	T	533	41	CLYBL	2	2
NALCN	259232	broad.mit.edu	37	13	101714425	101714425	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101714425C>A	uc001vox.1	-	c.4650G>T	c.(4648-4650)CTG>CTT	p.L1550L		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1550	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.157143	18.670604	26.536001	11	59	KEEP	---	---	---	---	capture		Silent	SNP	101714425	101714425	10544	13	C	A	A	A	262	21	NALCN	2	2
FGF14	2259	broad.mit.edu	37	13	102521158	102521158	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:102521158C>A	uc001vpf.2	-	c.340G>T	c.(340-342)GTG>TTG	p.V114L	FGF14_uc001vpe.2_Missense_Mutation_p.V109L	NM_175929	NP_787125	Q92915	FGF14_HUMAN	fibroblast growth factor 14 isoform 1B	109					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			large_intestine(1)|ovary(1)	2	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.1875	24.758273	30.614551	12	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102521158	102521158	6080	13	C	A	A	A	260	20	FGF14	2	2
TPP2	7174	broad.mit.edu	37	13	103301782	103301782	+	Silent	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:103301782A>T	uc001vpi.3	+	c.2898A>T	c.(2896-2898)GGA>GGT	p.G966G		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	966					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.15625	8.354487	11.964364	5	27	KEEP	---	---	---	---	capture		Silent	SNP	103301782	103301782	16956	13	A	T	T	T	145	12	TPP2	3	3
TPP2	7174	broad.mit.edu	37	13	103301784	103301784	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:103301784G>T	uc001vpi.3	+	c.2900G>T	c.(2899-2901)TGC>TTC	p.C967F		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	967					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.16129	9.253708	12.638691	5	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103301784	103301784	16956	13	G	T	T	T	598	46	TPP2	2	2
COL4A1	1282	broad.mit.edu	37	13	110814762	110814762	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110814762C>A	uc001vqw.3	-	c.4277G>T	c.(4276-4278)GGC>GTC	p.G1426V	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1426	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)											0.132075	36.475248	64.342062	28	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110814762	110814762	3827	13	C	A	A	A	338	26	COL4A1	2	2
COL4A1	1282	broad.mit.edu	37	13	110829281	110829281	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110829281C>T	uc001vqw.3	-	c.2820G>A	c.(2818-2820)AAG>AAA	p.K940K	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	940	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)											0.150943	48.289063	66.852464	24	135	KEEP	---	---	---	---	capture		Silent	SNP	110829281	110829281	3827	13	C	T	T	T	311	24	COL4A1	2	2
COL4A2	1284	broad.mit.edu	37	13	111092175	111092175	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:111092175C>T	uc001vqx.2	+	c.952C>T	c.(952-954)CAG>TAG	p.Q318*		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	318	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			central_nervous_system(2)|ovary(1)	3	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)											0.27027	93.62114	100.677315	40	108	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	111092175	111092175	3828	13	C	T	T	T	221	17	COL4A2	5	2
IFT88	8100	broad.mit.edu	37	13	21171206	21171206	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:21171206A>T	uc001unh.2	+	c.569A>T	c.(568-570)CAG>CTG	p.Q190L	IFT88_uc001uni.2_Missense_Mutation_p.Q181L|IFT88_uc001unj.2_Missense_Mutation_p.Q180L|IFT88_uc010tcq.1_Missense_Mutation_p.Q161L|IFT88_uc001unk.2_5'UTR	NM_175605	NP_783195	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog isoform 1	190					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)										0.290323	25.762556	26.983662	9	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21171206	21171206	7867	13	A	T	T	T	91	7	IFT88	3	3
SACS	26278	broad.mit.edu	37	13	23909848	23909848	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:23909848C>A	uc001uon.2	-	c.8167G>T	c.(8167-8169)GTC>TTC	p.V2723F	SACS_uc001uoo.2_Missense_Mutation_p.V2576F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2723					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)|skin(1)	11		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)						738				0.066667	-3.188298	11.41131	5	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23909848	23909848	14284	13	C	A	A	A	234	18	SACS	2	2
MTUS2	23281	broad.mit.edu	37	13	29599270	29599270	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:29599270C>A	uc001usl.3	+	c.465C>A	c.(463-465)GAC>GAA	p.D155E		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	145						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0									p.D155E(SNU5-Tumor)	344				0.120805	25.341853	46.346995	18	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29599270	29599270	10359	13	C	A	A	A	246	19	MTUS2	1	1
USPL1	10208	broad.mit.edu	37	13	31221140	31221140	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:31221140G>T	uc001utc.2	+	c.1184G>T	c.(1183-1185)GGT>GTT	p.G395V	USPL1_uc001utb.2_Missense_Mutation_p.G214V|USPL1_uc001utd.2_Missense_Mutation_p.G66V|USPL1_uc001ute.1_Missense_Mutation_p.G66V	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	395					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(1)	1		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		Ovarian(60;318 1180 1554 28110 31601)								0.255814	29.002192	31.329648	11	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31221140	31221140	17656	13	G	T	T	T	572	44	USPL1	2	2
ENOX1	55068	broad.mit.edu	37	13	43918817	43918817	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:43918817C>G	uc001uza.3	-	c.893G>C	c.(892-894)CGC>CCC	p.R298P	ENOX1_uc001uzb.3_Missense_Mutation_p.R298P|ENOX1_uc001uzc.3_Missense_Mutation_p.R298P|ENOX1_uc001uyz.3_5'UTR|ENOX1_uc010tfm.1_Missense_Mutation_p.R111P	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	298					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)	1		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)										0.208696	57.84149	66.87583	24	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43918817	43918817	5319	13	C	G	G	G	351	27	ENOX1	3	3
ENOX1	55068	broad.mit.edu	37	13	43935509	43935509	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:43935509G>T	uc001uza.3	-	c.288C>A	c.(286-288)GGC>GGA	p.G96G	ENOX1_uc001uzb.3_Silent_p.G96G|ENOX1_uc001uzc.3_Silent_p.G96G|ENOX1_uc010tfm.1_5'Flank	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	96	Pro-rich.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)	1		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)										0.146789	25.223862	38.299629	16	93	KEEP	---	---	---	---	capture		Silent	SNP	43935509	43935509	5319	13	G	T	T	T	535	42	ENOX1	2	2
INTS6	26512	broad.mit.edu	37	13	51957561	51957561	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:51957561C>A	uc001vfk.2	-	c.1084G>T	c.(1084-1086)GGT>TGT	p.G362C	INTS6_uc001vfi.2_Missense_Mutation_p.G46C|INTS6_uc001vfj.2_Missense_Mutation_p.G349C|INTS6_uc001vfl.2_Missense_Mutation_p.G184C	NM_012141	NP_036273	Q9UL03	INT6_HUMAN	integrator complex subunit 6 isoform a	362					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			ovary(1)|lung(1)	2		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)										0.26	66.697947	71.917693	26	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51957561	51957561	8083	13	C	A	A	A	273	21	INTS6	2	2
OLFM4	10562	broad.mit.edu	37	13	53624276	53624276	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53624276G>C	uc001vhl.2	+	c.903G>C	c.(901-903)GAG>GAC	p.E301D	OLFM4_uc001vhk.1_Intron	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	301	Olfactomedin-like.				cell adhesion	extracellular space					0		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)						717				0.213333	45.048246	50.755792	16	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53624276	53624276	11260	13	G	C	C	C	464	36	OLFM4	3	3
TDRD3	81550	broad.mit.edu	37	13	61057959	61057959	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:61057959G>T	uc010aeg.2	+	c.546G>T	c.(544-546)CCG>CCT	p.P182P	TDRD3_uc010aef.2_5'UTR|TDRD3_uc001via.2_Silent_p.P89P|TDRD3_uc001vhz.3_Silent_p.P89P|TDRD3_uc001vib.3_Silent_p.P89P	NM_001146070	NP_001139542	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 1	89					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity				0		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		Colon(36;164 906 35820 50723)								0.142857	13.880812	20.748269	8	48	KEEP	---	---	---	---	capture		Silent	SNP	61057959	61057959	16259	13	G	T	T	T	483	38	TDRD3	1	1
KLHL1	57626	broad.mit.edu	37	13	70514351	70514351	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:70514351C>A	uc001vip.2	-	c.835G>T	c.(835-837)GAG>TAG	p.E279*	KLHL1_uc010thm.1_Nonsense_Mutation_p.E218*	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	279	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)										0.307692	10.594568	11.023467	4	9	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	70514351	70514351	8677	13	C	A	A	A	416	32	KLHL1	5	2
KLHL1	57626	broad.mit.edu	37	13	70681381	70681381	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:70681381C>A	uc001vip.2	-	c.451G>T	c.(451-453)GAG>TAG	p.E151*	KLHL1_uc010thm.1_Nonsense_Mutation_p.E151*|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	151					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)										0.122363	27.403709	60.542991	29	208	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	70681381	70681381	8677	13	C	A	A	A	390	30	KLHL1	5	2
SCEL	8796	broad.mit.edu	37	13	78173884	78173884	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:78173884G>T	uc001vki.2	+	c.917_splice	c.e15+1	p.G306_splice	SCEL_uc001vkj.2_Splice_Site_SNP_p.G286_splice|SCEL_uc010thx.1_Splice_Site_SNP_p.G284_splice	NM_144777	NP_659001			sciellin isoform 1						embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)										0.096386	6.633337	20.190966	8	75	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	78173884	78173884	14369	13	G	T	T	T	572	44	SCEL	5	2
SLITRK5	26050	broad.mit.edu	37	13	88328566	88328566	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:88328566C>A	uc001vln.2	+	c.923C>A	c.(922-924)ACC>AAC	p.T308N	SLITRK5_uc010tic.1_Missense_Mutation_p.T67N	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	308	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)													0.103825	14.042033	42.600124	19	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88328566	88328566	15244	13	C	A	A	A	234	18	SLITRK5	2	2
GPC6	10082	broad.mit.edu	37	13	94938671	94938671	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:94938671G>T	uc001vlt.2	+	c.946G>T	c.(946-948)GAT>TAT	p.D316Y	GPC6_uc010tig.1_Missense_Mutation_p.D316Y	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	316						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)												0.138889	4.74688	9.294159	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94938671	94938671	6876	13	G	T	T	T	429	33	GPC6	2	2
ABCC4	10257	broad.mit.edu	37	13	95861826	95861826	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:95861826C>A	uc001vmd.3	-	c.647G>T	c.(646-648)TGG>TTG	p.W216L	ABCC4_uc010afk.2_Missense_Mutation_p.W216L|ABCC4_uc001vme.2_Missense_Mutation_p.W216L|ABCC4_uc010tih.1_Missense_Mutation_p.W141L|ABCC4_uc001vmf.2_Missense_Mutation_p.W173L|ABCC4_uc010afl.1_Missense_Mutation_p.W173L|ABCC4_uc010afm.1_Missense_Mutation_p.W229L	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	216	ABC transmembrane type-1 1.|Helical; (Potential).				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)	3	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)					1222				0.111111	7.842821	18.613336	8	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95861826	95861826	56	13	C	A	A	A	273	21	ABCC4	2	2
DOCK9	23348	broad.mit.edu	37	13	99462534	99462534	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:99462534C>A	uc001vnt.2	-	c.5145G>T	c.(5143-5145)ATG>ATT	p.M1715I	DOCK9_uc001vnw.2_Missense_Mutation_p.M1714I|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.M1692I|DOCK9_uc001vnq.2_Missense_Mutation_p.M264I|DOCK9_uc001vnr.2_Missense_Mutation_p.M358I|DOCK9_uc010tin.1_Missense_Mutation_p.M335I|DOCK9_uc001vns.2_Missense_Mutation_p.M264I|DOCK9_uc010tio.1_Missense_Mutation_p.M384I|DOCK9_uc010tip.1_Missense_Mutation_p.M425I|DOCK9_uc001vnu.1_Missense_Mutation_p.M264I|DOCK9_uc010tiq.1_Missense_Mutation_p.M670I	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1715	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.121212	25.37481	48.584384	20	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99462534	99462534	4878	13	C	A	A	A	273	21	DOCK9	2	2
CYP46A1	10858	broad.mit.edu	37	14	100165801	100165801	+	Splice_Site_SNP	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100165801A>G	uc001ygo.2	+	c.283_splice	c.e4-2	p.K95_splice	CYP46A1_uc001ygn.1_Splice_Site_SNP_p.K57_splice	NM_006668	NP_006659			cytochrome P450, family 46						bile acid biosynthetic process|cholesterol catabolic process|nervous system development|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)												0.20915	371.245206	419.103908	128	484	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	100165801	100165801	4347	14	A	G	G	G	195	15	CYP46A1	5	4
DLK1	8788	broad.mit.edu	37	14	101200978	101200978	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:101200978C>A	uc001yhs.3	+	c.897C>A	c.(895-897)CTC>CTA	p.L299L	DLK1_uc001yhu.3_Intron	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog precursor	299	Extracellular (Potential).				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)	2		Melanoma(154;0.155)												0.137931	25.195561	43.592014	20	125	KEEP	---	---	---	---	capture		Silent	SNP	101200978	101200978	4744	14	C	A	A	A	366	29	DLK1	2	2
DYNC1H1	1778	broad.mit.edu	37	14	102493773	102493773	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:102493773G>C	uc001yks.2	+	c.8940G>C	c.(8938-8940)TTG>TTC	p.L2980F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2980	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10														0.063953	-3.418005	30.594899	11	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102493773	102493773	5027	14	G	C	C	C	581	45	DYNC1H1	3	3
POTEG	404785	broad.mit.edu	37	14	19566063	19566063	+	Silent	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:19566063T>C	uc001vuz.1	+	c.1107T>C	c.(1105-1107)TCT>TCC	p.S369S	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	369										ovary(1)	1														0.052632	-6.607732	13.480137	5	90	KEEP	---	---	---	---	capture		Silent	SNP	19566063	19566063	12696	14	T	C	C	C	717	56	POTEG	4	4
OR4K1	79544	broad.mit.edu	37	14	20404138	20404138	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20404138C>A	uc001vwj.1	+	c.313C>A	c.(313-315)CAC>AAC	p.H105N		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)										0.058201	-17.84662	20.849355	11	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20404138	20404138	11477	14	C	A	A	A	377	29	OR4K1	2	2
OR4L1	122742	broad.mit.edu	37	14	20528475	20528475	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20528475C>A	uc001vwn.1	+	c.272C>A	c.(271-273)ACC>AAC	p.T91N		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)										0.144444	21.115737	32.066776	13	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20528475	20528475	11484	14	C	A	A	A	234	18	OR4L1	2	2
RNASE10	338879	broad.mit.edu	37	14	20978889	20978890	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20978889_20978890GG>TT	uc001vxp.2	+	c.343_344GG>TT	c.(343-345)GGT>TTT	p.G115F	RNASE10_uc010tlj.1_Missense_Mutation_p.G87F	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	87						extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)										0.113402	15.35421	29.656607	11	86	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	20978889	20978890	13877	14	GG	TT	TT	TT	507	39	RNASE10	1	1
EDDM3A	10876	broad.mit.edu	37	14	21216183	21216183	+	Nonstop_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21216183G>C	uc001vyb.2	+	c.444G>C	c.(442-444)TAG>TAC	p.*148Y	EDDM3A_uc001vyc.2_Nonstop_Mutation_p.*148Y	NM_006683	NP_006674	Q14507	EP3A_HUMAN	human epididymis-specific 3 alpha precursor	148					sperm displacement	extracellular space					0														0.081081	7.684403	27.529993	9	102	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	21216183	21216183	5096	14	G	C	C	C	425	33	EDDM3A	5	3
MYH6	4624	broad.mit.edu	37	14	23859650	23859650	+	Silent	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23859650G>C	uc001wjv.2	-	c.3348C>G	c.(3346-3348)CGC>CGG	p.R1116R	MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1116	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)										0.276596	40.954435	43.065901	13	34	KEEP	---	---	---	---	capture		Silent	SNP	23859650	23859650	10433	14	G	C	C	C	587	46	MYH6	3	3
CPNE6	9362	broad.mit.edu	37	14	24546478	24546478	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24546478G>C	uc010tnv.1	+	c.1580G>C	c.(1579-1581)GGC>GCC	p.G527A	CPNE6_uc001wlm.2_Missense_Mutation_p.G297A|CPNE6_uc001wll.2_Missense_Mutation_p.G472A|CPNE6_uc001wln.2_Missense_Mutation_p.G140A	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	472	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)										0.140351	25.203626	39.543274	16	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24546478	24546478	3954	14	G	C	C	C	546	42	CPNE6	3	3
NFATC4	4776	broad.mit.edu	37	14	24845994	24845994	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24845994G>T	uc010tol.1	+	c.2740G>T	c.(2740-2742)GAG>TAG	p.E914*	NFATC4_uc010tok.1_Nonsense_Mutation_p.E914*|NFATC4_uc010alr.2_Intron|NFATC4_uc010tom.1_Nonsense_Mutation_p.E864*|NFATC4_uc010ton.1_Nonsense_Mutation_p.E864*|NFATC4_uc010too.1_Intron|NFATC4_uc010alt.2_Nonsense_Mutation_p.E883*|NFATC4_uc010top.1_Nonsense_Mutation_p.E883*|NFATC4_uc010toq.1_Intron|NFATC4_uc001wpc.2_Nonsense_Mutation_p.E851*|NFATC4_uc010tor.1_Intron|NFATC4_uc010tos.1_Nonsense_Mutation_p.E781*|NFATC4_uc010tot.1_Nonsense_Mutation_p.E839*|NFATC4_uc010tou.1_Nonsense_Mutation_p.E781*|NFATC4_uc010tov.1_Intron|NFATC4_uc010tow.1_Intron|NFATC4_uc010alv.2_Nonsense_Mutation_p.E839*|NFATC4_uc010tox.1_Nonsense_Mutation_p.E781*|NFATC4_uc001wpd.2_Nonsense_Mutation_p.E386*|NFATC4_uc010toy.1_Intron|NFATC4_uc010toz.1_Nonsense_Mutation_p.E386*|NFATC4_uc010tpa.1_Nonsense_Mutation_p.E139*|NFATC4_uc010tpb.1_Nonsense_Mutation_p.E139*	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	851					cell differentiation|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.018)										0.239362	92.339739	104.047296	45	143	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	24845994	24845994	10765	14	G	T	T	T	533	41	NFATC4	5	2
CTSG	1511	broad.mit.edu	37	14	25042889	25042889	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:25042889G>C	uc001wpq.2	-	c.722C>G	c.(721-723)ACA>AGA	p.T241R		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	241	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)										0.101968	83.254681	171.541999	57	502	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25042889	25042889	4194	14	G	C	C	C	624	48	CTSG	3	3
FOXG1	2290	broad.mit.edu	37	14	29237763	29237763	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:29237763G>T	uc001wqe.2	+	c.1278G>T	c.(1276-1278)ATG>ATT	p.M426I		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	426					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of neuron differentiation|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|sensory cilium assembly|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(1)	3			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)										0.145038	30.932533	46.818145	19	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29237763	29237763	6252	14	G	T	T	T	585	45	FOXG1	2	2
PRKD1	5587	broad.mit.edu	37	14	30046644	30046644	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:30046644C>A	uc001wqh.2	-	c.2539G>T	c.(2539-2541)GAT>TAT	p.D847Y		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	847					cell proliferation|intracellular signal transduction|protein phosphorylation|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)						428				0.193798	48.584713	59.889701	25	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30046644	30046644	12961	14	C	A	A	A	416	32	PRKD1	2	2
BAZ1A	11177	broad.mit.edu	37	14	35243654	35243654	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:35243654C>G	uc001wsk.2	-	c.2876G>C	c.(2875-2877)AGA>ACA	p.R959T	BAZ1A_uc001wsl.2_Missense_Mutation_p.R927T	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	959					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	transcription regulator activity|zinc ion binding			lung(2)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	6	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)										0.078049	3.024786	40.366259	16	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35243654	35243654	1350	14	C	G	G	G	416	32	BAZ1A	3	3
CTAGE5	4253	broad.mit.edu	37	14	39796221	39796221	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:39796221C>T	uc001wvi.3	+	c.1841C>T	c.(1840-1842)CCG>CTG	p.P614L	CTAGE5_uc010tqe.1_Missense_Mutation_p.P571L|CTAGE5_uc001wuz.3_Missense_Mutation_p.P597L|CTAGE5_uc001wuy.3_Missense_Mutation_p.P529L|CTAGE5_uc001wvb.3_Missense_Mutation_p.P537L|CTAGE5_uc001wvc.3_Missense_Mutation_p.P511L|CTAGE5_uc001wva.3_Missense_Mutation_p.P580L|CTAGE5_uc001wvg.3_Missense_Mutation_p.P609L|CTAGE5_uc001wvh.3_Missense_Mutation_p.P566L|CTAGE5_uc001wvf.3_Missense_Mutation_p.P534L|CTAGE5_uc010amz.2_Missense_Mutation_p.P225L|CTAGE5_uc001wvj.3_Missense_Mutation_p.P580L	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	609	Pro-rich.						enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)										0.2	30.437571	35.878477	13	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39796221	39796221	4153	14	C	T	T	T	299	23	CTAGE5	1	1
LRFN5	145581	broad.mit.edu	37	14	42356854	42356854	+	Silent	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:42356854T>A	uc001wvm.2	+	c.1026T>A	c.(1024-1026)CTT>CTA	p.L342L	LRFN5_uc010ana.2_Silent_p.L342L	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	342	Extracellular (Potential).|Ig-like.					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)										0.146341	42.697579	62.409024	24	140	KEEP	---	---	---	---	capture		Silent	SNP	42356854	42356854	9314	14	T	A	A	A	808	63	LRFN5	3	3
FANCM	57697	broad.mit.edu	37	14	45645702	45645702	+	Missense_Mutation	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45645702A>G	uc001wwd.3	+	c.3745A>G	c.(3745-3747)ACA>GCA	p.T1249A	FANCM_uc010anf.2_Missense_Mutation_p.T1223A|FANCM_uc001wwe.3_Missense_Mutation_p.T785A|FANCM_uc010ang.2_Missense_Mutation_p.T463A	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1249					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(2)|breast(1)	3										793				0.174603	27.114874	33.385638	11	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45645702	45645702	5907	14	A	G	G	G	182	14	FANCM	4	4
FANCM	57697	broad.mit.edu	37	14	45658239	45658239	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45658239G>A	uc001wwd.3	+	c.5014G>A	c.(5014-5016)GAT>AAT	p.D1672N	FANCM_uc010anf.2_Missense_Mutation_p.D1646N|FANCM_uc001wwe.3_Missense_Mutation_p.D1208N|FANCM_uc010ang.2_Missense_Mutation_p.D886N	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1672					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(2)|breast(1)	3										793				0.327434	95.225967	98.215674	37	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45658239	45658239	5907	14	G	A	A	A	585	45	FANCM	2	2
TRIM9	114088	broad.mit.edu	37	14	51446110	51446110	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:51446110C>A	uc001wyy.2	-	c.2308G>T	c.(2308-2310)GTG>TTG	p.V770L	TRIM9_uc001wyx.3_Missense_Mutation_p.V689L	NM_052978	NP_443210	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 2	689	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|skin(1)	2	all_epithelial(31;0.00418)|Breast(41;0.148)													0.165899	76.039962	98.954317	36	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51446110	51446110	17099	14	C	A	A	A	247	19	TRIM9	1	1
PTGDR	5729	broad.mit.edu	37	14	52735269	52735269	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52735269C>A	uc001wzq.2	+	c.737C>A	c.(736-738)CCG>CAG	p.P246Q		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	246	Cytoplasmic (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)									0.091463	2.206794	29.860258	15	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52735269	52735269	13195	14	C	A	A	A	299	23	PTGDR	1	1
SPTB	6710	broad.mit.edu	37	14	65260272	65260272	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:65260272C>A	uc001xhr.2	-	c.2109G>T	c.(2107-2109)ATG>ATT	p.M703I	SPTB_uc001xhs.2_Missense_Mutation_p.M703I|SPTB_uc001xht.2_Missense_Mutation_p.M703I|SPTB_uc001xhu.2_Missense_Mutation_p.M703I	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	spectrin beta isoform a	703	Spectrin 4.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|lung(1)|central_nervous_system(1)	9		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)										0.207921	44.41292	52.401189	21	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65260272	65260272	15632	14	C	A	A	A	273	21	SPTB	2	2
PLEK2	26499	broad.mit.edu	37	14	67859505	67859505	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:67859505C>T	uc001xjh.1	-	c.543G>A	c.(541-543)GTG>GTA	p.V181V		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	181	DEP.				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)										0.21875	13.404314	15.740693	7	25	KEEP	---	---	---	---	capture		Silent	SNP	67859505	67859505	12480	14	C	T	T	T	366	29	PLEK2	2	2
DCAF5	8816	broad.mit.edu	37	14	69520616	69520616	+	Silent	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:69520616T>A	uc001xkp.2	-	c.2787A>T	c.(2785-2787)ACA>ACT	p.T929T	DCAF5_uc001xkq.2_Silent_p.T928T	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	929					protein ubiquitination	CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2														0.191919	84.432674	101.988229	38	160	KEEP	---	---	---	---	capture		Silent	SNP	69520616	69520616	4444	14	T	A	A	A	704	55	DCAF5	3	3
GALNTL1	57452	broad.mit.edu	37	14	69800212	69800212	+	Splice_Site_SNP	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:69800212A>T	uc010aqu.1	+	c.864_splice	c.e9-2	p.R288_splice	GALNTL1_uc001xla.1_Splice_Site_SNP_p.R288_splice|GALNTL1_uc001xlb.1_Splice_Site_SNP_p.R288_splice	NM_020692	NP_065743			UDP-N-acetyl-alpha-D-galactosamine:polypeptide							Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)										0.253333	48.993737	53.134307	19	56	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	69800212	69800212	6485	14	A	T	T	T	91	7	GALNTL1	5	3
KIAA0247	9766	broad.mit.edu	37	14	70175482	70175482	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70175482G>T	uc001xlk.2	+	c.547G>T	c.(547-549)GGC>TGC	p.G183C	KIAA0247_uc010aqz.2_Missense_Mutation_p.G158C	NM_014734	NP_055549	Q92537	K0247_HUMAN	hypothetical protein LOC9766 precursor	183	Cytoplasmic (Potential).					integral to membrane				ovary(2)	2				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)										0.114286	19.767123	45.446118	20	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70175482	70175482	8472	14	G	T	T	T	611	47	KIAA0247	2	2
MED6	10001	broad.mit.edu	37	14	71058048	71058048	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:71058048G>A	uc010tth.1	-	c.538C>T	c.(538-540)CAG>TAG	p.Q180*	MED6_uc001xmf.2_Nonsense_Mutation_p.Q173*|MED6_uc010tti.1_Intron	NM_005466	NP_005457	O75586	MED6_HUMAN	mediator of RNA polymerase II transcription,	173					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	RNA polymerase II transcription mediator activity|transcription coactivator activity				0				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)										0.089286	3.356197	22.442735	10	102	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	71058048	71058048	9840	14	G	A	A	A	585	45	MED6	5	2
ESRRB	2103	broad.mit.edu	37	14	76905914	76905914	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:76905914G>T	uc001xsr.2	+	c.218G>T	c.(217-219)CGC>CTC	p.R73L	ESRRB_uc001xso.2_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.R73L	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	73					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0213)										0.135135	15.513922	25.049879	10	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76905914	76905914	5454	14	G	T	T	T	494	38	ESRRB	1	1
ANGEL1	23357	broad.mit.edu	37	14	77270204	77270204	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:77270204C>A	uc001xsv.2	-	c.1432G>T	c.(1432-1434)GCC>TCC	p.A478S	ANGEL1_uc010tvf.1_Intron	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	478										ovary(2)|central_nervous_system(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)										0.166023	78.505252	105.878664	43	216	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77270204	77270204	611	14	C	A	A	A	338	26	ANGEL1	2	2
C14orf148	122945	broad.mit.edu	37	14	77880278	77880278	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:77880278C>A	uc001xtr.2	-	c.348G>T	c.(346-348)CTG>CTT	p.L116L	C14orf148_uc010tvi.1_Silent_p.L116L	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	hypothetical protein LOC122945 isoform 1	116					oxidation-reduction process|proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)										0.275	28.706271	30.530901	11	29	KEEP	---	---	---	---	capture		Silent	SNP	77880278	77880278	1799	14	C	A	A	A	262	21	C14orf148	2	2
DIO2	1734	broad.mit.edu	37	14	80669444	80669444	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:80669444G>T	uc010tvp.1	-	c.518C>A	c.(517-519)ACG>AAG	p.T173K	DIO2_uc001xut.2_Non-coding_Transcript|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvq.1_Missense_Mutation_p.T137K|DIO2_uc010tvr.1_Missense_Mutation_p.T137K|DIO2_uc010asy.2_3'UTR	NM_001007023	NP_001007024	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform b	137					hormone biosynthetic process|oxidation-reduction process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding				0				BRCA - Breast invasive adenocarcinoma(234;0.0281)								OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.125	4.734203	8.008922	3	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80669444	80669444	4704	14	G	T	T	T	520	40	DIO2	1	1
DIO2	1734	broad.mit.edu	37	14	80677716	80677716	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:80677716G>T	uc010tvp.1	-	c.100C>A	c.(100-102)CTC>ATC	p.L34I	DIO2_uc001xut.2_Non-coding_Transcript|DIO2_uc010asx.2_Missense_Mutation_p.L34I|DIO2_uc010tvq.1_Missense_Mutation_p.L34I|DIO2_uc010tvr.1_Missense_Mutation_p.L34I|DIO2_uc010asy.2_Missense_Mutation_p.L34I	NM_001007023	NP_001007024	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform b	34	Helical; (Potential).				hormone biosynthetic process|oxidation-reduction process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding				0				BRCA - Breast invasive adenocarcinoma(234;0.0281)										0.083333	0.059929	8.532557	4	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80677716	80677716	4704	14	G	T	T	T	442	34	DIO2	2	2
C14orf145	145508	broad.mit.edu	37	14	81244364	81244364	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:81244364C>A	uc001xux.2	-	c.2238G>T	c.(2236-2238)ATG>ATT	p.M746I	C14orf145_uc010asz.1_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CN145_HUMAN	hypothetical protein LOC145508	746	Potential.									central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0586)						1				0.15873	18.306526	25.301777	10	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81244364	81244364	1797	14	C	A	A	A	273	21	C14orf145	2	2
KCNK10	54207	broad.mit.edu	37	14	88652099	88652099	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:88652099G>A	uc001xwm.2	-	c.1412C>T	c.(1411-1413)CCC>CTC	p.P471L	KCNK10_uc001xwn.2_Missense_Mutation_p.P471L|KCNK10_uc001xwo.2_Missense_Mutation_p.P466L	NM_138318	NP_612191	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	466	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|pancreas(1)	3														0.122222	44.953558	82.75891	33	237	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88652099	88652099	8364	14	G	A	A	A	559	43	KCNK10	2	2
KIAA1409	57578	broad.mit.edu	37	14	94069601	94069601	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94069601G>T	uc001ybv.1	+	c.3060G>T	c.(3058-3060)AGG>AGT	p.R1020S	KIAA1409_uc001ybs.1_Missense_Mutation_p.R1020S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1197						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.078014	-3.48112	22.190528	11	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94069601	94069601	8539	14	G	T	T	T	529	41	KIAA1409	2	2
KIAA1409	57578	broad.mit.edu	37	14	94088826	94088826	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94088826C>A	uc001ybv.1	+	c.4782C>A	c.(4780-4782)CTC>CTA	p.L1594L	KIAA1409_uc001ybs.1_Silent_p.L1572L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1749						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.125874	18.439463	37.999195	18	125	KEEP	---	---	---	---	capture		Silent	SNP	94088826	94088826	8539	14	C	A	A	A	379	30	KIAA1409	2	2
DDX24	57062	broad.mit.edu	37	14	94545842	94545842	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94545842C>A	uc001ycj.2	-	c.247G>T	c.(247-249)GAA>TAA	p.E83*	DDX24_uc010twq.1_Nonsense_Mutation_p.E40*|DDX24_uc010twr.1_Intron|IFI27L1_uc001ycl.2_5'Flank|IFI27L1_uc001yck.2_5'Flank	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 24	83	Poly-Glu.				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|skin(1)	4		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)										0.129139	44.263573	84.81838	39	263	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	94545842	94545842	4522	14	C	A	A	A	416	32	DDX24	5	2
SERPINA11	256394	broad.mit.edu	37	14	94914725	94914725	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94914725G>T	uc001ydd.1	-	c.387C>A	c.(385-387)CCC>CCA	p.P129P		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	129					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)										0.097884	25.115008	86.279309	37	341	KEEP	---	---	---	---	capture		Silent	SNP	94914725	94914725	14576	14	G	T	T	T	600	47	SERPINA11	2	2
SERPINA12	145264	broad.mit.edu	37	14	94962858	94962858	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94962858C>A	uc001ydj.2	-	c.757G>T	c.(757-759)GAT>TAT	p.D253Y		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	253					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(2)|ovary(1)|lung(1)	4				COAD - Colon adenocarcinoma(157;0.235)					p.D253N(SNU81-Tumor)	148				0.119835	41.200243	75.518778	29	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94962858	94962858	14577	14	C	A	A	A	403	31	SERPINA12	1	1
ASB7	140460	broad.mit.edu	37	15	101170046	101170046	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:101170046A>T	uc002bwk.2	+	c.616A>T	c.(616-618)ACA>TCA	p.T206S	ASB7_uc002bwj.2_Missense_Mutation_p.T206S	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box-containing protein 7	206	ANK 6.				intracellular signal transduction						0	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)											0.202703	37.185212	43.257705	15	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101170046	101170046	1046	15	A	T	T	T	78	6	ASB7	3	3
TUBGCP5	114791	broad.mit.edu	37	15	22849092	22849092	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:22849092C>T	uc001yuq.2	+	c.1139C>T	c.(1138-1140)GCA>GTA	p.A380V	TUBGCP5_uc001yur.3_Missense_Mutation_p.A380V|TUBGCP5_uc010axz.1_5'UTR	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	380					G2/M transition of mitotic cell cycle|microtubule nucleation	cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding				0		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)										0.115385	5.720714	13.29149	6	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22849092	22849092	17324	15	C	T	T	T	325	25	TUBGCP5	2	2
IVD	3712	broad.mit.edu	37	15	40708319	40708319	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40708319G>A	uc001zls.3	+	c.1012G>A	c.(1012-1014)GCG>ACG	p.A338T	IVD_uc001zlq.2_Missense_Mutation_p.A308T|IVD_uc001zlr.2_Missense_Mutation_p.A41T	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	335					leucine catabolic process|oxidation-reduction process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GBM(31;293 617 7486 32527 34655)								0.176471	24.056273	30.766016	12	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40708319	40708319	8232	15	G	A	A	A	546	42	IVD	2	2
CATSPER2	117155	broad.mit.edu	37	15	43939636	43939636	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43939636C>A	uc001zsh.2	-	c.175G>T	c.(175-177)GGA>TGA	p.G59*	CATSPER2_uc010bdm.2_Non-coding_Transcript|CATSPER2_uc001zsi.2_Nonsense_Mutation_p.G59*|CATSPER2_uc001zsj.2_Nonsense_Mutation_p.G59*|CATSPER2_uc001zsk.2_Nonsense_Mutation_p.G59*|CATSPER2_uc001zsl.1_Non-coding_Transcript	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	59	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)										0.27933	129.565743	137.411404	50	129	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43939636	43939636	2807	15	C	A	A	A	286	22	CATSPER2	5	2
DUOX2	50506	broad.mit.edu	37	15	45389466	45389466	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45389466T>A	uc010bea.2	-	c.3817A>T	c.(3817-3819)AGC>TGC	p.S1273C	DUOX2_uc001zun.2_Missense_Mutation_p.S1273C	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1273	Cytoplasmic (Potential).|FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|pancreas(1)	3		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)										0.122302	19.876163	39.302296	17	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45389466	45389466	4986	15	T	A	A	A	715	55	DUOX2	3	3
SNX1	6642	broad.mit.edu	37	15	64404771	64404771	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:64404771G>T	uc010uio.1	+	c.160_splice	c.e2-1	p.S54_splice	SNX1_uc010bgv.2_Splice_Site_SNP|SNX1_uc002amv.2_Splice_Site_SNP_p.S54_splice|SNX1_uc002amw.2_Splice_Site_SNP_p.S54_splice|SNX1_uc002amx.2_Splice_Site_SNP_p.S54_splice|SNX1_uc002amy.2_Splice_Site_SNP|SNX1_uc010bgw.2_Splice_Site_SNP	NM_003099	NP_003090			sorting nexin 1 isoform a						cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0														0.125	7.71306	14.310782	6	42	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	64404771	64404771	15380	15	G	T	T	T	429	33	SNX1	5	2
IGDCC4	57722	broad.mit.edu	37	15	65678331	65678331	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65678331C>T	uc002aou.1	-	c.3018G>A	c.(3016-3018)CGG>CGA	p.R1006R	IGDCC4_uc002aot.1_Silent_p.R594R	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	1006	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)	2												OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.352941	16.449877	16.771801	6	11	KEEP	---	---	---	---	capture		Silent	SNP	65678331	65678331	7870	15	C	T	T	T	327	26	IGDCC4	2	2
LCTL	197021	broad.mit.edu	37	15	66855910	66855911	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:66855910_66855911GG>AT	uc002aqc.2	-	c.423_424CC>AT	c.(421-426)GCCCTT>GCATTT	p.L142F	LCTL_uc002aqd.3_5'UTR|LCTL_uc010bhw.2_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	142	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2														0.142857	14.332048	22.076204	9	54	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	66855910	66855911	9018	15	GG	AT	AT	AT	455	35	LCTL	2	2
PIAS1	8554	broad.mit.edu	37	15	68378695	68378695	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:68378695G>T	uc002aqz.2	+	c.76G>T	c.(76-78)GCC>TCC	p.A26S	PIAS1_uc010ujx.1_Missense_Mutation_p.A26S	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	26	SAP.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1														0.4	24.096084	24.270912	8	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68378695	68378695	12299	15	G	T	T	T	494	38	PIAS1	1	1
SPESP1	246777	broad.mit.edu	37	15	69238267	69238267	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:69238267G>C	uc002arn.1	+	c.394G>C	c.(394-396)GTT>CTT	p.V132L	NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1 precursor	132					multicellular organismal development	acrosomal vesicle					0														0.085106	3.961533	12.167828	4	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69238267	69238267	15552	15	G	C	C	C	624	48	SPESP1	3	3
ADAMTS7	11173	broad.mit.edu	37	15	79057034	79057034	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:79057034C>A	uc002bej.3	-	c.4282G>T	c.(4282-4284)GGC>TGC	p.G1428C		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1428	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0														0.181818	8.492499	10.580393	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79057034	79057034	272	15	C	A	A	A	273	21	ADAMTS7	2	2
TMC3	342125	broad.mit.edu	37	15	81637255	81637255	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:81637255C>G	uc002bgo.1	-	c.1370G>C	c.(1369-1371)CGG>CCG	p.R457P	TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.2_Missense_Mutation_p.R457P	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	457	Cytoplasmic (Potential).					integral to membrane				ovary(1)|liver(1)	2														0.139535	11.722428	17.118581	6	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81637255	81637255	16516	15	C	G	G	G	299	23	TMC3	3	3
MEX3B	84206	broad.mit.edu	37	15	82336558	82336558	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:82336558C>A	uc002bgq.1	-	c.653G>T	c.(652-654)CGA>CTA	p.R218L		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	218	KH 2.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2														0.113208	22.748257	54.055772	24	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82336558	82336558	9900	15	C	A	A	A	403	31	MEX3B	1	1
FSD2	123722	broad.mit.edu	37	15	83440921	83440921	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:83440921G>T	uc002bjd.2	-	c.1171C>A	c.(1171-1173)CGA>AGA	p.R391R	FSD2_uc010uol.1_Silent_p.R391R|FSD2_uc010uom.1_Silent_p.R391R	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	391	Fibronectin type-III 1.									central_nervous_system(1)	1														0.217391	11.767659	13.457702	5	18	KEEP	---	---	---	---	capture		Silent	SNP	83440921	83440921	6322	15	G	T	T	T	506	39	FSD2	1	1
ADAMTSL3	57188	broad.mit.edu	37	15	84566611	84566611	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:84566611G>T	uc002bjz.3	+	c.1469G>T	c.(1468-1470)TGC>TTC	p.C490F	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.C490F|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.C490F	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	490	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			central_nervous_system(5)|ovary(5)|large_intestine(4)|lung(1)|breast(1)|kidney(1)|pancreas(1)	18			BRCA - Breast invasive adenocarcinoma(143;0.211)							580				0.138889	7.648242	12.18741	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84566611	84566611	277	15	G	T	T	T	598	46	ADAMTSL3	2	2
NTRK3	4916	broad.mit.edu	37	15	88476269	88476269	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:88476269C>A	uc002bme.1	-	c.1863G>T	c.(1861-1863)AAG>AAT	p.K621N	NTRK3_uc002bmh.2_Missense_Mutation_p.K613N|NTRK3_uc002bmf.1_Missense_Mutation_p.K621N|NTRK3_uc010upl.1_Missense_Mutation_p.K523N|NTRK3_uc010bnh.1_Missense_Mutation_p.K613N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	621	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(13)|ovary(5)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)	259			BRCA - Breast invasive adenocarcinoma(143;0.211)						p.K621N(HEC59-Tumor)	506	TSP Lung(13;0.10)			0.245283	31.146022	34.280081	13	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88476269	88476269	11113	15	C	A	A	A	363	28	NTRK3	2	2
SSTR5	6755	broad.mit.edu	37	16	1128926	1128926	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1128926G>T	uc002ckq.2	+	c.58G>T	c.(58-60)GCC>TCC	p.A20S	LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	20	Extracellular (Potential).				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity				0		Hepatocellular(780;0.00369)			Octreotide(DB00104)									0.307692	10.994758	11.423541	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1128926	1128926	15717	16	G	T	T	T	598	46	SSTR5	2	2
C1QTNF8	390664	broad.mit.edu	37	16	1143871	1143871	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1143871G>T	uc010uuw.1	-	c.389C>A	c.(388-390)TCC>TAC	p.S130Y		NM_207419	NP_997302	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	130	C1q.					collagen					0		Hepatocellular(780;0.00369)												0.315789	27.170623	28.326752	12	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1143871	1143871	2036	16	G	T	T	T	533	41	C1QTNF8	2	2
CACNA1H	8912	broad.mit.edu	37	16	1255228	1255228	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1255228C>A	uc002cks.2	+	c.2566C>A	c.(2566-2568)CCG>ACG	p.P856T	CACNA1H_uc002ckt.2_Missense_Mutation_p.P856T	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	856	II.|Helical; Name=S3 of repeat II; (Potential).				axon guidance|muscle contraction|muscle organ development|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)									0.090909	3.065171	16.057232	7	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1255228	1255228	2661	16	C	A	A	A	286	22	CACNA1H	2	2
ERCC4	2072	broad.mit.edu	37	16	14041959	14041959	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:14041959G>A	uc002dce.2	+	c.2506G>A	c.(2506-2508)GAA>AAA	p.E836K	ERCC4_uc010uyz.1_Missense_Mutation_p.E386K	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	836	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(3)|pancreas(1)	4										153				0.122807	9.210263	17.125759	7	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14041959	14041959	5408	16	G	A	A	A	585	45	ERCC4	2	2
MYH11	4629	broad.mit.edu	37	16	15831439	15831439	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:15831439C>A	uc002ddx.2	-	c.3181G>T	c.(3181-3183)GAG>TAG	p.E1061*	MYH11_uc002ddv.2_Nonsense_Mutation_p.E1061*|MYH11_uc002ddw.2_Nonsense_Mutation_p.E1054*|MYH11_uc002ddy.2_Nonsense_Mutation_p.E1054*|MYH11_uc010bvg.2_Nonsense_Mutation_p.E886*	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1054	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(4)|skin(2)|lung(1)	7										1257				0.111111	13.587777	36.456012	17	136	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	15831439	15831439	10426	16	C	A	A	A	390	30	MYH11	5	2
ZNF598	90850	broad.mit.edu	37	16	2049685	2049685	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2049685G>A	uc002cof.1	-	c.1865C>T	c.(1864-1866)GCC>GTC	p.A622V	ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	622	Pro-rich.					intracellular	zinc ion binding				0														0.206897	11.947315	14.247005	6	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2049685	2049685	18623	16	G	A	A	A	546	42	ZNF598	2	2
ACSM2A	123876	broad.mit.edu	37	16	20497976	20497976	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20497976G>A	uc010bwe.2	+	c.1710G>A	c.(1708-1710)ATG>ATA	p.M570I	ACSM2A_uc002dhf.3_Missense_Mutation_p.M570I|ACSM2A_uc002dhg.3_Missense_Mutation_p.M570I|ACSM2A_uc010vay.1_Missense_Mutation_p.M491I|ACSM2A_uc002dhh.3_Missense_Mutation_p.M200I	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	570					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)	1														0.234286	93.469561	104.790709	41	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20497976	20497976	184	16	G	A	A	A	624	48	ACSM2A	2	2
USP31	57478	broad.mit.edu	37	16	23119414	23119414	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23119414C>T	uc002dll.2	-	c.724G>A	c.(724-726)GAA>AAA	p.E242K		NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	242					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0187)										0.120482	11.094527	22.818189	10	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23119414	23119414	17626	16	C	T	T	T	377	29	USP31	2	2
RBBP6	5930	broad.mit.edu	37	16	24580457	24580457	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24580457G>A	uc002dmh.2	+	c.2446G>A	c.(2446-2448)GTT>ATT	p.V816I	RBBP6_uc010vcb.1_Missense_Mutation_p.V683I|RBBP6_uc002dmi.2_Missense_Mutation_p.V782I|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.V649I	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	816					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)										0.175	25.99729	33.971777	14	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24580457	24580457	13564	16	G	A	A	A	624	48	RBBP6	2	2
IL32	9235	broad.mit.edu	37	16	3119200	3119200	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3119200G>T	uc002cto.2	+	c.549G>T	c.(547-549)CTG>CTT	p.L183L	IL32_uc002ctk.2_Intron|IL32_uc010uwp.1_Silent_p.L117L|IL32_uc010btb.2_Silent_p.L127L|IL32_uc002ctl.2_Silent_p.L137L|IL32_uc002ctm.2_Silent_p.L137L|IL32_uc002ctn.2_Silent_p.L137L|IL32_uc002cts.3_Silent_p.L137L|IL32_uc002ctp.2_Silent_p.L117L|IL32_uc002ctq.2_Silent_p.L183L|IL32_uc002ctr.2_Silent_p.L117L|IL32_uc002ctt.2_Silent_p.L137L|IL32_uc010uwr.1_Silent_p.L97L|IL32_uc002ctu.2_Silent_p.L128L	NM_004221	NP_004212	P24001	IL32_HUMAN	interleukin 32 isoform B	183					cell adhesion|defense response|immune response	extracellular space	cytokine activity			pancreas(1)	1														0.071429	-3.887253	17.308681	8	104	KEEP	---	---	---	---	capture		Silent	SNP	3119200	3119200	7993	16	G	T	T	T	600	47	IL32	2	2
IL32	9235	broad.mit.edu	37	16	3119312	3119312	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3119312G>T	uc002cto.2	+	c.661G>T	c.(661-663)GAG>TAG	p.E221*	IL32_uc002ctk.2_Nonsense_Mutation_p.E118*|IL32_uc010uwp.1_Nonsense_Mutation_p.E155*|IL32_uc010btb.2_Nonsense_Mutation_p.E165*|IL32_uc002ctl.2_Nonsense_Mutation_p.E175*|IL32_uc002ctm.2_Nonsense_Mutation_p.E175*|IL32_uc002ctn.2_Nonsense_Mutation_p.E175*|IL32_uc002cts.3_Nonsense_Mutation_p.E175*|IL32_uc002ctp.2_Nonsense_Mutation_p.E155*|IL32_uc002ctq.2_Nonsense_Mutation_p.E221*|IL32_uc002ctr.2_Nonsense_Mutation_p.E155*|IL32_uc002ctt.2_Nonsense_Mutation_p.E175*|IL32_uc010uwr.1_Nonsense_Mutation_p.E135*|IL32_uc002ctu.2_Nonsense_Mutation_p.E166*	NM_004221	NP_004212	P24001	IL32_HUMAN	interleukin 32 isoform B	221					cell adhesion|defense response|immune response	extracellular space	cytokine activity			pancreas(1)	1														0.060345	-32.807442	37.429911	21	327	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	3119312	3119312	7993	16	G	T	T	T	533	41	IL32	5	2
ZNF423	23090	broad.mit.edu	37	16	49670403	49670403	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:49670403C>A	uc002efs.2	-	c.2660G>T	c.(2659-2661)GGC>GTC	p.G887V	ZNF423_uc010vgn.1_Missense_Mutation_p.G770V	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	887	C2H2-type 21; degenerate.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription activator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)								386				0.25	58.927066	64.609027	25	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49670403	49670403	18491	16	C	A	A	A	338	26	ZNF423	2	2
ZNF423	23090	broad.mit.edu	37	16	49671148	49671148	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:49671148G>A	uc002efs.2	-	c.1915C>T	c.(1915-1917)CTC>TTC	p.L639F	ZNF423_uc010vgn.1_Missense_Mutation_p.L522F	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	639	C2H2-type 14.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription activator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)								386				0.222222	62.441514	70.107869	24	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49671148	49671148	18491	16	G	A	A	A	455	35	ZNF423	2	2
SEC14L5	9717	broad.mit.edu	37	16	5055988	5055988	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:5055988G>C	uc002cye.2	+	c.1376G>C	c.(1375-1377)GGA>GCA	p.G459A		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	459	CRAL-TRIO.					integral to membrane|intracellular	transporter activity				0														0.139535	8.678702	14.203279	6	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5055988	5055988	14471	16	G	C	C	C	533	41	SEC14L5	3	3
MMP2	4313	broad.mit.edu	37	16	55530894	55530894	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55530894C>T	uc002ehz.3	+	c.1529C>T	c.(1528-1530)GCC>GTC	p.A510V	MMP2_uc010vhd.1_Missense_Mutation_p.A434V|MMP2_uc010ccc.2_Missense_Mutation_p.A460V|MMP2_uc002eia.3_Missense_Mutation_p.A7V	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	510	Required for inhibitor TIMP2 binding.|Hemopexin-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(3)|large_intestine(3)|lung(1)|central_nervous_system(1)|kidney(1)	9		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)					275				0.166667	25.594545	36.373349	17	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55530894	55530894	10048	16	C	T	T	T	338	26	MMP2	2	2
CCL22	6367	broad.mit.edu	37	16	57392777	57392777	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57392777G>A	uc002elh.2	+	c.49G>A	c.(49-51)GTG>ATG	p.V17M		NM_002990	NP_002981	O00626	CCL22_HUMAN	small inducible cytokine A22 precursor	17					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to virus|signal transduction	extracellular space	chemokine activity				0														0.099291	7.164447	29.783698	14	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57392777	57392777	3019	16	G	A	A	A	624	48	CCL22	2	2
PRSS54	221191	broad.mit.edu	37	16	58314359	58314359	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:58314359G>T	uc002enf.2	-	c.957C>A	c.(955-957)ACC>ACA	p.T319T	PRSS54_uc002eng.2_Silent_p.T319T|PRSS54_uc010vie.1_Silent_p.T220T|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	319					proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2														0.303922	86.283235	89.78441	31	71	KEEP	---	---	---	---	capture		Silent	SNP	58314359	58314359	13084	16	G	T	T	T	600	47	PRSS54	2	2
CDH5	1003	broad.mit.edu	37	16	66436898	66436898	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:66436898G>T	uc002eom.3	+	c.2181G>T	c.(2179-2181)ACG>ACT	p.T727T		NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	727	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|central_nervous_system(1)	3		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)										0.304348	16.832008	17.608963	7	16	KEEP	---	---	---	---	capture		Silent	SNP	66436898	66436898	3242	16	G	T	T	T	483	38	CDH5	1	1
C16orf70	80262	broad.mit.edu	37	16	67154014	67154014	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67154014G>T	uc002erc.2	+	c.65_splice	c.e3-1	p.G22_splice	C16orf70_uc002erd.2_Splice_Site_SNP_p.G22_splice|C16orf70_uc002ere.1_De_novo_Start_OutOfFrame	NM_025187	NP_079463			lin-10											ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)										0.241135	80.372303	88.998172	34	107	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	67154014	67154014	1882	16	G	T	T	T	455	35	C16orf70	5	2
CTCF	10664	broad.mit.edu	37	16	67654636	67654636	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67654636G>A	uc002etl.2	+	c.1123G>A	c.(1123-1125)GGA>AGA	p.G375R	CTCF_uc010cek.2_Missense_Mutation_p.G47R	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	375					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		Colon(175;1200 1966 6945 23069 27405)								0.108108	12.612614	29.517764	12	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67654636	67654636	4159	16	G	A	A	A	611	47	CTCF	2	2
RLTPR	146206	broad.mit.edu	37	16	67680346	67680346	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67680346C>A	uc002etn.2	+	c.392C>A	c.(391-393)CCC>CAC	p.P131H	RLTPR_uc010cel.1_Missense_Mutation_p.P131H|RLTPR_uc010vjr.1_Missense_Mutation_p.P131H	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	131										breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)										0.138614	20.787138	33.534126	14	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67680346	67680346	13871	16	C	A	A	A	286	22	RLTPR	2	2
TSNAXIP1	55815	broad.mit.edu	37	16	67860159	67860159	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67860159C>A	uc010vka.1	+	c.1249C>A	c.(1249-1251)CGG>AGG	p.R417R	TSNAXIP1_uc010cep.2_3'UTR|TSNAXIP1_uc010vjz.1_Silent_p.R240R|TSNAXIP1_uc002euf.3_Silent_p.R96R|TSNAXIP1_uc010vkb.1_Silent_p.R348R|TSNAXIP1_uc002eug.3_Silent_p.R71R|TSNAXIP1_uc002euh.3_Silent_p.R71R|TSNAXIP1_uc002eui.3_Silent_p.R71R|TSNAXIP1_uc002euj.2_Silent_p.R363R|TSNAXIP1_uc002euk.2_Silent_p.R96R	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	363					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)										0.117647	10.389802	22.60833	10	75	KEEP	---	---	---	---	capture		Silent	SNP	67860159	67860159	17183	16	C	A	A	A	347	27	TSNAXIP1	1	1
HYDIN	54768	broad.mit.edu	37	16	70934909	70934909	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70934909C>A	uc002ezr.2	-	c.9043G>T	c.(9043-9045)GAG>TAG	p.E3015*		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3016										ovary(1)	1		Ovarian(137;0.0654)												0.047198	-45.783787	28.274456	16	323	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	70934909	70934909	7767	16	C	A	A	A	390	30	HYDIN	5	2
HYDIN	54768	broad.mit.edu	37	16	70935048	70935048	+	Silent	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70935048C>G	uc002ezr.2	-	c.8904G>C	c.(8902-8904)CGG>CGC	p.R2968R		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2969										ovary(1)	1		Ovarian(137;0.0654)												0.07971	4.214405	29.087533	11	127	KEEP	---	---	---	---	capture		Silent	SNP	70935048	70935048	7767	16	C	G	G	G	379	30	HYDIN	3	3
GAN	8139	broad.mit.edu	37	16	81391423	81391423	+	Missense_Mutation	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:81391423A>G	uc002fgo.2	+	c.860A>G	c.(859-861)AAA>AGA	p.K287R		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	287	Kelch 1.				cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				GBM(106;1239 1507 7582 9741 33976)								0.135266	56.86026	83.541301	28	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81391423	81391423	6496	16	A	G	G	G	13	1	GAN	4	4
DEF8	54849	broad.mit.edu	37	16	90025465	90025465	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:90025465A>T	uc002fpn.1	+	c.599A>T	c.(598-600)CAC>CTC	p.H200L	DEF8_uc002fpl.2_Missense_Mutation_p.H139L|DEF8_uc002fpm.2_Missense_Mutation_p.H139L|DEF8_uc002fpo.1_Missense_Mutation_p.H139L|DEF8_uc002fpp.1_Missense_Mutation_p.H129L|DEF8_uc010vpq.1_Missense_Mutation_p.H79L|DEF8_uc010vpr.1_Missense_Mutation_p.H139L	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	200	Phorbol-ester/DAG-type 1.				intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)										0.284444	172.904973	182.293659	64	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90025465	90025465	4558	16	A	T	T	T	78	6	DEF8	3	3
DEF8	54849	broad.mit.edu	37	16	90028432	90028432	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:90028432A>T	uc002fpn.1	+	c.1003A>T	c.(1003-1005)AGC>TGC	p.S335C	DEF8_uc002fpo.1_Missense_Mutation_p.S274C|DEF8_uc002fpp.1_Missense_Mutation_p.S264C|DEF8_uc010vpq.1_Missense_Mutation_p.S214C|DEF8_uc010vpr.1_Missense_Mutation_p.S274C|DEF8_uc002fpq.1_5'Flank	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	335					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)										0.188406	27.43428	33.704707	13	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90028432	90028432	4558	16	A	T	T	T	91	7	DEF8	3	3
MYH13	8735	broad.mit.edu	37	17	10219042	10219042	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10219042C>A	uc002gmk.1	-	c.3952G>T	c.(3952-3954)GAG>TAG	p.E1318*		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1318	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.395349	44.772361	45.181952	17	26	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10219042	10219042	10427	17	C	A	A	A	390	30	MYH13	5	2
MYH8	4626	broad.mit.edu	37	17	10303891	10303891	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10303891G>T	uc002gmm.2	-	c.3551C>A	c.(3550-3552)GCC>GAC	p.A1184D		NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1184	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(3)|breast(2)	5														0.144828	30.100737	47.689284	21	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10303891	10303891	10436	17	G	T	T	T	546	42	MYH8	2	2
DNAH9	1770	broad.mit.edu	37	17	11786980	11786980	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11786980C>A	uc002gne.2	+	c.10884C>A	c.(10882-10884)TCC>TCA	p.S3628S	DNAH9_uc010coo.2_Silent_p.S2922S|DNAH9_uc002gnf.2_5'UTR|DNAH9_uc010vvh.1_5'Flank	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3628	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.152672	31.103143	46.240383	20	111	KEEP	---	---	---	---	capture		Silent	SNP	11786980	11786980	4791	17	C	A	A	A	301	24	DNAH9	2	2
MYOCD	93649	broad.mit.edu	37	17	12656507	12656507	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:12656507C>A	uc002gno.2	+	c.1902C>A	c.(1900-1902)TCC>TCA	p.S634S	MYOCD_uc002gnn.2_Silent_p.S634S|MYOCD_uc002gnp.1_Silent_p.S538S|MYOCD_uc002gnq.2_Silent_p.S353S	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	myocardin isoform 1	634					cardiac cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of smooth muscle contraction|regulation of smooth muscle cell differentiation|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription factor binding			central_nervous_system(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)										0.24812	149.054094	164.390591	66	200	KEEP	---	---	---	---	capture		Silent	SNP	12656507	12656507	10482	17	C	A	A	A	275	22	MYOCD	2	2
RICH2	9912	broad.mit.edu	37	17	12862139	12862139	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:12862139G>T	uc002gnr.3	+	c.1448G>T	c.(1447-1449)CGC>CTC	p.R483L	RICH2_uc010vvk.1_Missense_Mutation_p.R483L|RICH2_uc010vvl.1_Missense_Mutation_p.R483L|RICH2_uc002gns.3_Missense_Mutation_p.R283L|RICH2_uc010vvm.1_Missense_Mutation_p.R483L|RICH2_uc010vvn.1_Non-coding_Transcript|RICH2_uc002gnt.1_Missense_Mutation_p.R206L	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	483					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0														0.2	8.49026	10.163325	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12862139	12862139	13832	17	G	T	T	T	494	38	RICH2	1	1
SLC43A2	124935	broad.mit.edu	37	17	1479966	1479966	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:1479966G>A	uc002fsu.2	-	c.1485C>T	c.(1483-1485)ATC>ATT	p.I495I	SLC43A2_uc002fsv.2_Silent_p.I491I	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	solute carrier family 43, member 2	491	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)										0.170732	13.697875	17.903182	7	34	KEEP	---	---	---	---	capture		Silent	SNP	1479966	1479966	15130	17	G	A	A	A	577	45	SLC43A2	2	2
TRPV2	51393	broad.mit.edu	37	17	16321156	16321156	+	Silent	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:16321156C>G	uc002gpy.2	+	c.174C>G	c.(172-174)CTC>CTG	p.L58L	TRPV2_uc002gpz.2_5'UTR	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	58	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)										0.066667	-1.14941	10.527683	4	56	KEEP	---	---	---	---	capture		Silent	SNP	16321156	16321156	17147	17	C	G	G	G	366	29	TRPV2	3	3
EFCAB5	374786	broad.mit.edu	37	17	28434942	28434942	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:28434942T>C	uc002het.2	+	c.4412T>C	c.(4411-4413)ATA>ACA	p.I1471T	EFCAB5_uc010cse.2_Missense_Mutation_p.I1226T|EFCAB5_uc010csf.2_Missense_Mutation_p.I822T	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1471							calcium ion binding			ovary(1)|skin(1)	2														0.109091	5.871273	14.338536	6	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28434942	28434942	5125	17	T	C	C	C	637	49	EFCAB5	4	4
NF1	4763	broad.mit.edu	37	17	29557278	29557278	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:29557278G>T	uc002hgg.2	+	c.2991G>T	c.(2989-2991)AGG>AGT	p.R997S	NF1_uc002hgh.2_Missense_Mutation_p.R997S|NF1_uc010csn.1_Missense_Mutation_p.R857S|NF1_uc002hgi.1_Missense_Mutation_p.R30S	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	997					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(1)		soft_tissue(155)|central_nervous_system(56)|large_intestine(27)|lung(19)|haematopoietic_and_lymphoid_tissue(13)|ovary(12)|autonomic_ganglia(7)|skin(3)|stomach(2)|breast(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	300		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)						847	TCGA GBM(6;<1E-8)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0.121212	5.995254	10.619134	4	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29557278	29557278	10756	17	G	T	T	T	568	44	NF1	2	2
EVI2B	2124	broad.mit.edu	37	17	29631301	29631301	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:29631301G>T	uc010csq.2	-	c.1372C>A	c.(1372-1374)CCA>ACA	p.P458T	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.P443T	NM_006495	NP_006486	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B precursor	443	Cytoplasmic (Potential).					cytoplasm|integral to plasma membrane				ovary(2)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)										0.109589	6.857656	17.86544	8	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29631301	29631301	5481	17	G	T	T	T	533	41	EVI2B	2	2
LHX1	3975	broad.mit.edu	37	17	35300290	35300290	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:35300290G>T	uc002hnh.1	+	c.1083G>T	c.(1081-1083)CTG>CTT	p.L361L		NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	361					organ morphogenesis|regulation of transcription, DNA-dependent	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Breast(25;0.00607)												0.178571	9.757344	12.480991	5	23	KEEP	---	---	---	---	capture		Silent	SNP	35300290	35300290	9096	17	G	T	T	T	587	46	LHX1	2	2
GPR179	440435	broad.mit.edu	37	17	36485601	36485601	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:36485601C>T	uc002hpz.2	-	c.3851G>A	c.(3850-3852)GGT>GAT	p.G1284D		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1284	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)												0.151042	45.64148	68.054838	29	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36485601	36485601	6949	17	C	T	T	T	234	18	GPR179	2	2
KRTAP9-2	83899	broad.mit.edu	37	17	39383032	39383032	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39383032C>A	uc002hwf.2	+	c.126C>A	c.(124-126)TGC>TGA	p.C42*		NM_031961	NP_114167	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9.2	42	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].|5.					keratin filament	protein binding				0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)											0.088608	1.16247	14.678031	7	72	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	39383032	39383032	8896	17	C	A	A	A	363	28	KRTAP9-2	5	2
KRTAP9-4	85280	broad.mit.edu	37	17	39406098	39406098	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39406098C>A	uc002hwi.2	+	c.126C>A	c.(124-126)TGC>TGA	p.C42*	KRTAP9-9_uc010wfq.1_Intron	NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	42	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].|5.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)											0.314286	29.109988	30.185452	11	24	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	39406098	39406098	8898	17	C	A	A	A	363	28	KRTAP9-4	5	2
ZZEF1	23140	broad.mit.edu	37	17	3954271	3954271	+	Missense_Mutation	SNP	C	G	G	rs79012370		TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3954271C>G	uc002fxe.2	-	c.5667G>C	c.(5665-5667)AGG>AGC	p.R1889S	ZZEF1_uc002fxh.2_Missense_Mutation_p.R203S|ZZEF1_uc002fxi.2_Missense_Mutation_p.R124S|ZZEF1_uc002fxj.1_Missense_Mutation_p.R502S	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1889					regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	calcium ion binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.288462	40.222788	42.30275	15	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3954271	3954271	18861	17	C	G	G	G	337	26	ZZEF1	3	3
KRT35	3886	broad.mit.edu	37	17	39633777	39633778	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39633777_39633778CC>AA	uc002hws.2	-	c.1212_1213GG>TT	c.(1210-1215)GAGGAC>GATTAC	p.404_405ED>DY		NM_002280	NP_002271	Q92764	KRT35_HUMAN	keratin 35	404_405	Tail.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			ovary(1)	1		Breast(137;0.000286)												0.27551	61.514407	66.017328	27	71	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	39633777	39633778	8787	17	CC	AA	AA	AA	390	30	KRT35	2	2
KLHL10	317719	broad.mit.edu	37	17	39998215	39998215	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39998215T>A	uc010cxr.2	+	c.335T>A	c.(334-336)CTG>CAG	p.L112Q	KLHL10_uc010wfv.1_Missense_Mutation_p.L106Q|KLHL10_uc010wfw.1_Missense_Mutation_p.L24Q	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	112						cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)												0.219697	69.603891	79.156881	29	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39998215	39998215	8678	17	T	A	A	A	715	55	KLHL10	3	3
SLC4A1	6521	broad.mit.edu	37	17	42337251	42337252	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42337251_42337252TC>GT	uc002igf.3	-	c.534_535GA>AC	c.(532-537)CTGACA>CTACCA	p.T179P	SLC4A1_uc002igg.3_Missense_Mutation_p.T179P	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	179	Cytoplasmic.				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)										0.290323	109.960331	114.838744	36	88	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	42337251	42337252	15147	17	TC	GT	GT	GT	754	58	SLC4A1	4	4
EFTUD2	9343	broad.mit.edu	37	17	42930912	42930912	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42930912C>G	uc002ihn.2	-	c.2439G>C	c.(2437-2439)AGG>AGC	p.R813S	EFTUD2_uc010wje.1_Missense_Mutation_p.R778S|EFTUD2_uc010wjf.1_Missense_Mutation_p.R803S	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	813					nuclear mRNA splicing, via spliceosome	Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				Ovarian(10;65 485 10258 29980 30707)								0.1875	37.777254	45.096905	15	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42930912	42930912	5150	17	C	G	G	G	389	30	EFTUD2	3	3
NSF	4905	broad.mit.edu	37	17	44788372	44788372	+	Missense_Mutation	SNP	A	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44788372A>C	uc002iku.2	+	c.1514A>C	c.(1513-1515)AAC>ACC	p.N505T	NSF_uc010wke.1_Missense_Mutation_p.N411T|NSF_uc010wkf.1_Missense_Mutation_p.N411T|NSF_uc010wkg.1_Missense_Mutation_p.N500T	NM_006178	NP_006169	P46459	NSF_HUMAN	vesicle-fusing ATPase	505					protein transport|proteolysis|synaptic transmission	cytosol	ATP binding|ATP-dependent peptidase activity|metal ion binding|serine-type endopeptidase activity			ovary(1)	1		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		Ovarian(25;472 742 1472 36813 50223)								0.125	14.454452	23.24704	8	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44788372	44788372	11076	17	A	C	C	C	26	2	NSF	4	4
ITGB3	3690	broad.mit.edu	37	17	45360745	45360745	+	Missense_Mutation	SNP	G	C	C	rs74554539		TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45360745G>C	uc002ilj.2	+	c.191G>C	c.(190-192)TGT>TCT	p.C64S	ITGB3_uc002ili.1_Missense_Mutation_p.C64S|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	64	Extracellular (Potential).				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)									0.350649	93.301436	94.81683	27	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45360745	45360745	8199	17	G	C	C	C	624	48	ITGB3	3	3
B4GALNT2	124872	broad.mit.edu	37	17	47236504	47236504	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47236504C>A	uc002ion.2	+	c.784C>A	c.(784-786)CGG>AGG	p.R262R	B4GALNT2_uc010wlt.1_Silent_p.R176R|B4GALNT2_uc010wlu.1_Silent_p.R202R	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	262	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			GBM(124;244 1635 8663 18097 33175)								0.087533	11.986471	76.876218	33	344	KEEP	---	---	---	---	capture		Silent	SNP	47236504	47236504	1288	17	C	A	A	A	295	23	B4GALNT2	1	1
SLC35B1	10237	broad.mit.edu	37	17	47783252	47783252	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47783252C>A	uc002iph.1	-	c.346G>T	c.(346-348)GGT>TGT	p.G116C	SLC35B1_uc002ipi.1_Missense_Mutation_p.G49C|SLC35B1_uc002ipj.1_5'UTR|SLC35B1_uc010wly.1_Missense_Mutation_p.G116C	NM_005827	NP_005818	P78383	S35B1_HUMAN	solute carrier family 35, member B1	116						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity				0														0.110092	12.114004	28.518396	12	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47783252	47783252	15072	17	C	A	A	A	273	21	SLC35B1	2	2
ITGA3	3675	broad.mit.edu	37	17	48153965	48153965	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48153965G>T	uc010dbm.2	+	c.1842G>T	c.(1840-1842)GAG>GAT	p.E614D	ITGA3_uc010dbl.2_Missense_Mutation_p.E614D	NM_005501	NP_005492	P26006	ITA3_HUMAN	integrin alpha 3 isoform b precursor	614	Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3														0.147887	36.025636	52.894802	21	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48153965	48153965	8181	17	G	T	T	T	464	36	ITGA3	2	2
CACNA1G	8913	broad.mit.edu	37	17	48655739	48655739	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48655739C>A	uc002irk.1	+	c.2115C>A	c.(2113-2115)CTC>CTA	p.L705L	CACNA1G_uc002iri.1_Silent_p.L705L|CACNA1G_uc002irj.1_Silent_p.L705L|CACNA1G_uc002irl.1_Silent_p.L705L|CACNA1G_uc002irm.1_Silent_p.L705L|CACNA1G_uc002irn.1_Silent_p.L705L|CACNA1G_uc002iro.1_Silent_p.L705L|CACNA1G_uc002irp.1_Silent_p.L705L|CACNA1G_uc002irq.1_Silent_p.L705L|CACNA1G_uc002irr.1_Silent_p.L705L|CACNA1G_uc002irs.1_Silent_p.L705L|CACNA1G_uc002irt.1_Silent_p.L705L|CACNA1G_uc002irv.1_Silent_p.L705L|CACNA1G_uc002irw.1_Silent_p.L705L|CACNA1G_uc002iru.1_Silent_p.L705L|CACNA1G_uc002irx.1_Silent_p.L618L|CACNA1G_uc002iry.1_Silent_p.L618L|CACNA1G_uc002irz.1_Silent_p.L618L|CACNA1G_uc002isa.1_Silent_p.L618L|CACNA1G_uc002isb.1_Silent_p.L618L|CACNA1G_uc002isc.1_Silent_p.L618L|CACNA1G_uc002isd.1_Silent_p.L618L|CACNA1G_uc002ise.1_Silent_p.L618L|CACNA1G_uc002isf.1_Silent_p.L618L|CACNA1G_uc002isg.1_Silent_p.L618L|CACNA1G_uc002ish.1_Silent_p.L618L|CACNA1G_uc002isi.1_Silent_p.L618L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	705	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)									0.176471	28.288584	38.359904	18	84	KEEP	---	---	---	---	capture		Silent	SNP	48655739	48655739	2660	17	C	A	A	A	379	30	CACNA1G	2	2
C17orf47	284083	broad.mit.edu	37	17	56621194	56621194	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56621194G>T	uc002iwq.1	-	c.354C>A	c.(352-354)AGC>AGA	p.S118R		NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	118										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.343284	124.89728	127.810147	46	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56621194	56621194	1914	17	G	T	T	T	594	46	C17orf47	2	2
LIMD2	80774	broad.mit.edu	37	17	61776059	61776059	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61776059G>T	uc002jbj.3	-	c.237C>A	c.(235-237)TAC>TAA	p.Y79*	LIMD2_uc002jbk.3_Missense_Mutation_p.R81S|LIMD2_uc002jbl.3_Nonsense_Mutation_p.Y79*	NM_030576	NP_085053	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	79	LIM zinc-binding.						zinc ion binding				0														0.090909	4.959578	25.351669	11	110	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	61776059	61776059	9125	17	G	T	T	T	516	40	LIMD2	5	1
CCDC46	201134	broad.mit.edu	37	17	63848085	63848085	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:63848085C>A	uc002jfl.2	-	c.2231G>T	c.(2230-2232)CGG>CTG	p.R744L	CCDC46_uc010deo.2_Missense_Mutation_p.R486L|CCDC46_uc002jfm.2_Missense_Mutation_p.R744L|CCDC46_uc010dep.2_Missense_Mutation_p.R702L	NM_145036	NP_659473	Q8N8E3	CCD46_HUMAN	coiled-coil domain containing 46 isoform a	744	Potential.										0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)											0.094203	10.99481	33.801619	13	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63848085	63848085	2940	17	C	A	A	A	299	23	CCDC46	1	1
CACNG5	27091	broad.mit.edu	37	17	64873633	64873633	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:64873633C>A	uc002jfr.2	+	c.183C>A	c.(181-183)GTC>GTA	p.V61V	CACNG5_uc010wqi.1_Silent_p.V61V|CACNG5_uc010wqj.1_Silent_p.V61V	NM_014404	NP_055219	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	61					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|postsynaptic density	voltage-gated calcium channel activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)											0.361111	105.588777	107.425174	39	69	KEEP	---	---	---	---	capture		Silent	SNP	64873633	64873633	2676	17	C	A	A	A	405	32	CACNG5	2	2
CACNG1	786	broad.mit.edu	37	17	65040956	65040956	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:65040956C>A	uc002jfu.2	+	c.180C>A	c.(178-180)CGC>CGA	p.R60R		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	60					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)									0.068182	-6.126524	10.878297	6	82	KEEP	---	---	---	---	capture		Silent	SNP	65040956	65040956	2672	17	C	A	A	A	314	25	CACNG1	2	2
HELZ	9931	broad.mit.edu	37	17	65146102	65146102	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:65146102C>A	uc010wqk.1	-	c.2360_splice	c.e19-1	p.G787_splice	HELZ_uc002jfv.3_Splice_Site_SNP|HELZ_uc002jfx.3_Splice_Site_SNP_p.G786_splice	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)													0.20765	83.349681	97.840416	38	145	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	65146102	65146102	7332	17	C	A	A	A	312	24	HELZ	5	2
ALOX12	239	broad.mit.edu	37	17	6902727	6902727	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:6902727G>A	uc002gdx.3	+	c.749G>A	c.(748-750)AGG>AAG	p.R250K		NM_000697	NP_000688	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	250	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			central_nervous_system(1)	1														0.094595	5.166823	17.382301	7	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6902727	6902727	539	17	G	A	A	A	455	35	ALOX12	2	2
CLEC10A	10462	broad.mit.edu	37	17	6978391	6978391	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:6978391G>T	uc002gek.2	-	c.933C>A	c.(931-933)ACC>ACA	p.T311T	CLEC10A_uc002gej.2_Silent_p.T287T|CLEC10A_uc002gel.2_Silent_p.T284T|CLEC10A_uc010clv.1_3'UTR	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	C-type lectin, superfamily member 14 isoform 1	311	Extracellular (Potential).				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding				0														0.220779	36.735535	42.262684	17	60	KEEP	---	---	---	---	capture		Silent	SNP	6978391	6978391	3632	17	G	T	T	T	600	47	CLEC10A	2	2
CD300C	10871	broad.mit.edu	37	17	72541045	72541045	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72541045C>A	uc002jky.1	-	c.103G>T	c.(103-105)GTG>TTG	p.V35L		NM_006678	NP_006669	Q08708	CLM6_HUMAN	CD300C antigen precursor	35	Extracellular (Potential).|Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity				0						Esophageal Squamous(66;421 1121 20537 25337 27468)								0.114583	5.641185	19.771866	11	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72541045	72541045	3125	17	C	A	A	A	247	19	CD300C	1	1
EVPL	2125	broad.mit.edu	37	17	74014575	74014575	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74014575C>A	uc010wss.1	-	c.1391G>T	c.(1390-1392)TGC>TTC	p.C464F	EVPL_uc002jqi.2_Missense_Mutation_p.C464F|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	464	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)	3														0.5	75.671583	75.671583	25	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74014575	74014575	5485	17	C	A	A	A	325	25	EVPL	2	2
POLR2A	5430	broad.mit.edu	37	17	7405852	7405853	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7405852_7405853GG>TT	uc002ghf.3	+	c.2588_2589GG>TT	c.(2587-2589)CGG>CTT	p.R863L		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	863					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)												0.111111	10.346828	21.111731	8	64	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	7405852	7405853	12642	17	GG	TT	TT	TT	507	39	POLR2A	1	1
UBE2O	63893	broad.mit.edu	37	17	74398726	74398726	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74398726C>T	uc002jrm.3	-	c.643G>A	c.(643-645)GAC>AAC	p.D215N	UBE2O_uc002jrn.3_Missense_Mutation_p.D215N|UBE2O_uc002jrl.3_5'Flank	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	215					post-translational protein modification		ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5										583				0.134483	51.755917	89.315239	39	251	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74398726	74398726	17425	17	C	T	T	T	403	31	UBE2O	1	1
MFSD11	79157	broad.mit.edu	37	17	74738050	74738050	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74738050G>T	uc002jta.2	+	c.261_splice	c.e5-1	p.S87_splice	MFSD11_uc002jtb.2_Splice_Site_SNP_p.S87_splice|MFSD11_uc010dha.2_Splice_Site_SNP_p.S87_splice|MFSD11_uc002jtc.2_Splice_Site_SNP_p.S87_splice|MFSD11_uc002jtd.3_Splice_Site_SNP_p.S87_splice|MFSD11_uc010dhb.2_Splice_Site_SNP_p.S87_splice|MFSD11_uc002jte.2_Splice_Site_SNP_p.S87_splice	NM_024311	NP_077287			major facilitator superfamily domain containing							integral to membrane				ovary(1)	1														0.1274	91.438057	169.051483	73	500	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	74738050	74738050	9919	17	G	T	T	T	442	34	MFSD11	5	2
MGAT5B	146664	broad.mit.edu	37	17	74944851	74944851	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74944851G>T	uc002jti.2	+	c.2337G>T	c.(2335-2337)AAG>AAT	p.K779N	MGAT5B_uc002jth.2_Missense_Mutation_p.K768N|MGAT5B_uc002jtj.2_Missense_Mutation_p.K175N	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	770	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)	2														0.384615	13.068648	13.221399	5	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74944851	74944851	9939	17	G	T	T	T	464	36	MGAT5B	2	2
FXR2	9513	broad.mit.edu	37	17	7497649	7497649	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7497649C>G	uc002gia.1	-	c.927G>C	c.(925-927)AAG>AAC	p.K309N	FXR2_uc010vud.1_Missense_Mutation_p.K309N	NM_004860	NP_004851	P51116	FXR2_HUMAN	fragile X mental retardation syndrome related	309	KH 2.					cytosolic large ribosomal subunit	protein binding|RNA binding				0				READ - Rectum adenocarcinoma(115;0.17)										0.116667	9.077683	17.757233	7	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7497649	7497649	6367	17	C	G	G	G	415	32	FXR2	3	3
TP53	7157	broad.mit.edu	37	17	7576928	7576928	+	Splice_Site_SNP	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7576928T>C	uc002gim.2	-	c.920_splice	c.e9-1	p.A307_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Splice_Site_SNP_p.A307_splice|TP53_uc010cne.1_Splice_Site_SNP|TP53_uc010cnf.1_Splice_Site_SNP_p.A175_splice|TP53_uc010cng.1_Splice_Site_SNP_p.A175_splice|TP53_uc002gii.1_Splice_Site_SNP_p.A175_splice|TP53_uc010cnh.1_Splice_Site_SNP_p.A307_splice|TP53_uc010cni.1_Splice_Site_SNP_p.A307_splice|TP53_uc002gij.2_Splice_Site_SNP_p.A307_splice	NM_001126112	NP_001119584			tumor protein p53 isoform a						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 gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|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|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	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|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|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.?(9)|p.0?(6)|p.A307fs*34(1)|p.L308fs*31(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|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)	21904		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)		Pancreas(47;798 1329 9957 10801)		111	(PECAPJ41CLONED2-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.288136	106.808725	111.553462	34	84	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	7576928	7576928	16923	17	T	C	C	C	689	53	TP53	5	4
ENGASE	64772	broad.mit.edu	37	17	77081425	77081425	+	Splice_Site_SNP	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:77081425G>A	uc002jwv.2	+	c.1700_splice	c.e12+1	p.H567_splice	ENGASE_uc002jww.2_Splice_Site_SNP_p.H272_splice	NM_001042573	NP_001036038			endo-beta-N-acetylglucosaminidase							cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity				0														0.152778	19.275309	27.583921	11	61	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	77081425	77081425	5311	17	G	A	A	A	468	36	ENGASE	5	2
FASN	2194	broad.mit.edu	37	17	80045115	80045115	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:80045115C>A	uc002kdu.2	-	c.3238G>T	c.(3238-3240)GTG>TTG	p.V1080L	FASN_uc002kdw.1_Missense_Mutation_p.V296L	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1080					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	Colon(59;314 1043 11189 28578 32273)				1201				0.411765	19.622074	19.737544	7	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80045115	80045115	5919	17	C	A	A	A	234	18	FASN	2	2
ZNF521	25925	broad.mit.edu	37	18	22804827	22804827	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:22804827C>A	uc002kvk.2	-	c.3055G>T	c.(3055-3057)GGC>TGC	p.G1019C	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.G1019C|ZNF521_uc002kvl.2_Missense_Mutation_p.G799C	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1019				G -> A (in Ref. 1; CAD57322 and 6; CAB56016).	cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.219512	40.702373	46.647989	18	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22804827	22804827	18559	18	C	A	A	A	312	24	ZNF521	2	2
ZNF521	25925	broad.mit.edu	37	18	22805845	22805845	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:22805845C>A	uc002kvk.2	-	c.2037G>T	c.(2035-2037)TTG>TTT	p.L679F	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.L679F|ZNF521_uc002kvl.2_Missense_Mutation_p.L459F	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	679	C2H2-type 15.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.139211	92.486245	146.718518	60	371	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22805845	22805845	18559	18	C	A	A	A	324	25	ZNF521	2	2
DSC3	1825	broad.mit.edu	37	18	28610993	28610993	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28610993G>T	uc002kwj.3	-	c.300C>A	c.(298-300)GAC>GAA	p.D100E	DSC3_uc002kwi.3_Missense_Mutation_p.D100E	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	100					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(10;0.125)											0.314286	32.211306	33.285966	11	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28610993	28610993	4951	18	G	T	T	T	620	48	DSC3	2	2
DSG1	1828	broad.mit.edu	37	18	28934808	28934808	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28934808G>T	uc002kwp.2	+	c.2649G>T	c.(2647-2649)ATG>ATT	p.M883I	DSG1_uc010xbp.1_Missense_Mutation_p.M242I	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	883	Cytoplasmic (Potential).|Desmoglein repeat 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			ovary(2)|central_nervous_system(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00559)											0.076531	-3.019486	32.969884	15	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28934808	28934808	4960	18	G	T	T	T	598	46	DSG1	2	2
GALNT1	2589	broad.mit.edu	37	18	33283564	33283564	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:33283564G>T	uc010dmu.2	+	c.1490G>T	c.(1489-1491)TGC>TTC	p.C497F	GALNT1_uc002kyz.3_Missense_Mutation_p.C437F|GALNT1_uc002kzb.2_Missense_Mutation_p.C497F	NM_020474	NP_065207	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	497	Lumenal (Potential).|Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2														0.196721	26.36235	31.591673	12	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33283564	33283564	6471	18	G	T	T	T	598	46	GALNT1	2	2
FHOD3	80206	broad.mit.edu	37	18	34205545	34205545	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:34205545G>T	uc002kzs.1	+	c.1029G>T	c.(1027-1029)AGG>AGT	p.R343S	FHOD3_uc002kzr.1_Missense_Mutation_p.R343S|FHOD3_uc002kzt.1_Missense_Mutation_p.R343S|FHOD3_uc002kzu.1_Missense_Mutation_p.R168S|FHOD3_uc010dmz.1_Missense_Mutation_p.R96S	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	343	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			large_intestine(2)|breast(2)|ovary(1)	5		all_epithelial(2;0.0181)|Colorectal(2;0.0195)												0.164384	20.701159	28.472746	12	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34205545	34205545	6121	18	G	T	T	T	555	43	FHOD3	2	2
SETBP1	26040	broad.mit.edu	37	18	42531802	42531802	+	Nonsense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42531802A>T	uc010dni.2	+	c.2497A>T	c.(2497-2499)AGA>TGA	p.R833*		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	833						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.08	-0.81174	12.704916	6	69	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42531802	42531802	14617	18	A	T	T	T	88	7	SETBP1	5	3
TCEB3B	51224	broad.mit.edu	37	18	44561593	44561593	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:44561593G>T	uc002lcr.1	-	c.43C>A	c.(43-45)CAG>AAG	p.Q15K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	15	TFIIS N-terminal.				transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding|transcription elongation regulator activity			ovary(2)|large_intestine(1)|pancreas(1)	4														0.277778	24.53323	26.133926	10	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44561593	44561593	16208	18	G	T	T	T	598	46	TCEB3B	2	2
DYM	54808	broad.mit.edu	37	18	46783427	46783427	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:46783427C>T	uc002ldi.1	-	c.1413G>A	c.(1411-1413)TCG>TCA	p.S471S	DYM_uc010xdf.1_Silent_p.S281S|DYM_uc002ldj.3_Silent_p.S293S|DYM_uc010dov.1_Silent_p.S21S	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	dymeclin	471						Golgi apparatus					0														0.082192	1.802077	14.760384	6	67	KEEP	---	---	---	---	capture		Silent	SNP	46783427	46783427	5026	18	C	T	T	T	288	23	DYM	1	1
TCF4	6925	broad.mit.edu	37	18	52942961	52942961	+	Silent	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:52942961A>T	uc002lga.2	-	c.984T>A	c.(982-984)CCT>CCA	p.P328P	TCF4_uc002lfw.3_Silent_p.P66P|TCF4_uc010xdu.1_Silent_p.P96P|TCF4_uc010xdv.1_Silent_p.P96P|TCF4_uc002lfx.2_Silent_p.P155P|TCF4_uc010xdw.1_Silent_p.P96P|TCF4_uc002lfy.2_Silent_p.P184P|TCF4_uc010xdx.1_Silent_p.P202P|TCF4_uc002lfz.2_Silent_p.P226P|TCF4_uc010dph.1_Silent_p.P226P|TCF4_uc010xdy.1_Silent_p.P202P|TCF4_uc002lgb.1_Silent_p.P66P|TCF4_uc010dpi.2_Silent_p.P232P|TCF4_uc002lgc.3_Silent_p.P147P|TCF4_uc002lfv.2_Silent_p.P10P	NM_001083962	NP_001077431	P15884	ITF2_HUMAN	transcription factor 4 isoform a	226					protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|transcription initiation factor activity			ovary(1)	1				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)										0.07438	-5.142674	17.465122	9	112	KEEP	---	---	---	---	capture		Silent	SNP	52942961	52942961	16221	18	A	T	T	T	28	3	TCF4	3	3
ATP8B1	5205	broad.mit.edu	37	18	55365077	55365077	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:55365077C>T	uc002lgw.2	-	c.577G>A	c.(577-579)GAA>AAA	p.E193K		NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	193	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(4)|ovary(2)|central_nervous_system(2)	8		Colorectal(73;0.229)								950				0.072727	-1.545419	8.786285	4	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55365077	55365077	1213	18	C	T	T	T	416	32	ATP8B1	2	2
ALPK2	115701	broad.mit.edu	37	18	56184357	56184357	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:56184357C>A	uc002lhj.3	-	c.5723G>T	c.(5722-5724)AGC>ATC	p.S1908I		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1908	Alpha-type protein kinase.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11										343				0.145161	13.930809	21.443808	9	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56184357	56184357	548	18	C	A	A	A	364	28	ALPK2	2	2
ZNF532	55205	broad.mit.edu	37	18	56586482	56586482	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:56586482C>T	uc002lho.2	+	c.963C>T	c.(961-963)ATC>ATT	p.I321I	ZNF532_uc002lhp.2_Silent_p.I319I|ZNF532_uc010xeg.1_Silent_p.I319I|ZNF532_uc002lhr.2_Silent_p.I319I|ZNF532_uc002lhs.2_Silent_p.I319I	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1														0.112426	19.308337	44.374208	19	150	KEEP	---	---	---	---	capture		Silent	SNP	56586482	56586482	18566	18	C	T	T	T	395	31	ZNF532	1	1
SERPINB12	89777	broad.mit.edu	37	18	61226923	61226923	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61226923A>T	uc010xeo.1	+	c.416A>T	c.(415-417)TAT>TTT	p.Y139F	SERPINB12_uc010xen.1_Missense_Mutation_p.Y119F	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	119					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity				0														0.122449	15.231494	28.911991	12	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61226923	61226923	14587	18	A	T	T	T	208	16	SERPINB12	3	3
NETO1	81832	broad.mit.edu	37	18	70451059	70451059	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:70451059C>A	uc002lkw.2	-	c.722G>T	c.(721-723)AGT>ATT	p.S241I	NETO1_uc002lkx.1_Missense_Mutation_p.S240I|NETO1_uc002lky.1_Missense_Mutation_p.S241I	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	241	CUB 2.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)	2		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)										0.103448	10.816945	28.977336	12	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70451059	70451059	10738	18	C	A	A	A	260	20	NETO1	2	2
TXNDC2	84203	broad.mit.edu	37	18	9887023	9887024	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:9887023_9887024CC>AA	uc002koi.3	+	c.547_548CC>AA	c.(547-549)CCA>AAA	p.P183K	TXNDC2_uc010wzq.1_Intron|TXNDC2_uc002koh.3_Missense_Mutation_p.P116K	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN	thioredoxin domain-containing 2 isoform 2	183	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|5.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			ovary(1)|pancreas(1)	2														0.044944	-36.747618	22.20005	12	255	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	9887023	9887024	17353	18	CC	AA	AA	AA	286	22	TXNDC2	2	2
COL5A3	50509	broad.mit.edu	37	19	10108083	10108083	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10108083G>T	uc002mmq.1	-	c.1227C>A	c.(1225-1227)CCC>CCA	p.P409P		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	409	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)	9			Epithelial(33;7.11e-05)											0.096774	1.502619	6.554021	3	28	KEEP	---	---	---	---	capture		Silent	SNP	10108083	10108083	3836	19	G	T	T	T	496	39	COL5A3	1	1
RAVER1	125950	broad.mit.edu	37	19	10429882	10429882	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10429882C>A	uc002moa.2	-	c.1856G>T	c.(1855-1857)CGG>CTG	p.R619L	RAVER1_uc002mnz.2_5'Flank	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	450	Pro-rich.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)											0.170732	14.005311	18.204911	7	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10429882	10429882	13555	19	C	A	A	A	299	23	RAVER1	1	1
ICAM3	3385	broad.mit.edu	37	19	10449401	10449401	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10449401G>A	uc002mob.2	-	c.300C>T	c.(298-300)TGC>TGT	p.C100C	ICAM3_uc010dxd.1_Silent_p.C23C|ICAM3_uc010xlf.1_Silent_p.C23C	NM_002162	NP_002153	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3 precursor	100	Extracellular (Potential).|Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)											0.160714	28.369042	40.653803	18	94	KEEP	---	---	---	---	capture		Silent	SNP	10449401	10449401	7781	19	G	A	A	A	594	46	ICAM3	2	2
ABCA7	10347	broad.mit.edu	37	19	1061838	1061838	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1061838A>T	uc002lqw.3	+	c.5521A>T	c.(5521-5523)ACG>TCG	p.T1841S	ABCA7_uc002lqy.2_Missense_Mutation_p.T294S|ABCA7_uc010dsc.2_Non-coding_Transcript	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1841	ABC transporter 2.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.0875	2.067974	15.836344	7	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1061838	1061838	38	19	A	T	T	T	130	10	ABCA7	3	3
TSPAN16	26526	broad.mit.edu	37	19	11408976	11408976	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11408976G>T	uc002mqv.1	+	c.228G>T	c.(226-228)TGG>TGT	p.W76C	TSPAN16_uc002mqu.1_Non-coding_Transcript	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	transmembrane 4 superfamily member 16	76	Helical; (Potential).					integral to membrane					0														0.083333	0.627325	13.306913	6	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11408976	11408976	17191	19	G	T	T	T	572	44	TSPAN16	2	2
ZNF700	90592	broad.mit.edu	37	19	12060377	12060377	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12060377G>A	uc002msu.2	+	c.1538G>A	c.(1537-1539)TGT>TAT	p.C513Y	ZNF700_uc010xme.1_Missense_Mutation_p.C531Y|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	513	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.060241	-6.998559	9.787661	5	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12060377	12060377	18699	19	G	A	A	A	624	48	ZNF700	2	2
ZNF442	79973	broad.mit.edu	37	19	12460729	12460729	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12460729G>C	uc002mtr.1	-	c.1670C>G	c.(1669-1671)ACT>AGT	p.T557S	ZNF442_uc010xmk.1_Missense_Mutation_p.T488S	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	557	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|kidney(1)	3														0.071429	0.24145	18.790336	7	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12460729	12460729	18508	19	G	C	C	C	468	36	ZNF442	3	3
RTBDN	83546	broad.mit.edu	37	19	12939733	12939733	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12939733C>A	uc002mvj.2	-	c.300G>T	c.(298-300)GAG>GAT	p.E100D	RTBDN_uc002mvh.1_Missense_Mutation_p.E100D|RTBDN_uc002mvi.2_Missense_Mutation_p.E68D	NM_031429	NP_113617	Q9BSG5	RTBDN_HUMAN	retbindin isoform 2	68						extracellular region					0														0.08284	-2.111669	27.894025	14	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12939733	12939733	14197	19	C	A	A	A	415	32	RTBDN	2	2
RFX1	5989	broad.mit.edu	37	19	14073934	14073934	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14073934C>G	uc002mxv.2	-	c.2724G>C	c.(2722-2724)GAG>GAC	p.E908D		NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	908	Necessary for dimerization.				immune response|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulator activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)											0.105263	1.595958	10.479812	6	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14073934	14073934	13734	19	C	G	G	G	311	24	RFX1	3	3
GIPC1	10755	broad.mit.edu	37	19	14593722	14593722	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14593722C>A	uc002myt.2	-	c.67G>T	c.(67-69)GGC>TGC	p.G23C	GIPC1_uc002myu.2_Missense_Mutation_p.G23C|GIPC1_uc002myv.2_Intron|GIPC1_uc002myw.2_Intron|GIPC1_uc002myx.2_Missense_Mutation_p.G23C|GIPC1_uc002myy.2_Intron	NM_005716	NP_005707	O14908	GIPC1_HUMAN	regulator of G-protein signalling 19 interacting	23					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding				0						Pancreas(33;78 923 2910 41023 52850)								0.35	19.618526	20.015765	7	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14593722	14593722	6660	19	C	A	A	A	312	24	GIPC1	2	2
PGLYRP2	114770	broad.mit.edu	37	19	15580732	15580732	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15580732A>T	uc002nbg.3	-	c.1352T>A	c.(1351-1353)GTG>GAG	p.V451E	PGLYRP2_uc002nbf.3_Missense_Mutation_p.V451E	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	451					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	metal ion binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity			ovary(3)	3														0.15	4.812529	7.161116	3	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15580732	15580732	12217	19	A	T	T	T	78	6	PGLYRP2	3	3
CYP4F3	4051	broad.mit.edu	37	19	15769110	15769110	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15769110C>A	uc002nbj.2	+	c.1152C>A	c.(1150-1152)TGC>TGA	p.C384*	CYP4F3_uc010xok.1_Nonsense_Mutation_p.C384*|CYP4F3_uc010xol.1_Nonsense_Mutation_p.C384*|CYP4F3_uc010xom.1_Nonsense_Mutation_p.C235*|CYP4F3_uc002nbk.2_Nonsense_Mutation_p.C384*|CYP4F3_uc010xon.1_Nonsense_Mutation_p.C94*	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	384					leukotriene metabolic process|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3														0.115854	21.003018	44.835097	19	145	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	15769110	15769110	4355	19	C	A	A	A	324	25	CYP4F3	5	2
OR10H5	284433	broad.mit.edu	37	19	15904977	15904977	+	Missense_Mutation	SNP	T	G	G	rs61741282		TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15904977T>G	uc010xos.1	+	c.119T>G	c.(118-120)CTG>CGG	p.L40R		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.273469	186.263516	197.648334	67	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15904977	15904977	11315	19	T	G	G	G	715	55	OR10H5	4	4
NWD1	284434	broad.mit.edu	37	19	16910888	16910888	+	Silent	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16910888C>G	uc002net.3	+	c.3246C>G	c.(3244-3246)CTC>CTG	p.L1082L	NWD1_uc002neu.3_Silent_p.L1217L|NWD1_uc002nev.3_Silent_p.L1011L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1217	WD 10.						ATP binding			ovary(2)|pancreas(2)	4														0.278107	152.857571	160.33953	47	122	KEEP	---	---	---	---	capture		Silent	SNP	16910888	16910888	11186	19	C	G	G	G	366	29	NWD1	3	3
PLVAP	83483	broad.mit.edu	37	19	17476329	17476329	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17476329C>A	uc002ngk.1	-	c.945G>T	c.(943-945)CTG>CTT	p.L315L		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	315	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0														0.129032	10.457994	18.766817	8	54	KEEP	---	---	---	---	capture		Silent	SNP	17476329	17476329	12542	19	C	A	A	A	314	25	PLVAP	2	2
SLC27A1	376497	broad.mit.edu	37	19	17611545	17611545	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17611545T>A	uc002ngu.1	+	c.1496T>A	c.(1495-1497)CTG>CAG	p.L499Q	SLC27A1_uc010xpp.1_Missense_Mutation_p.L320Q|SLC27A1_uc002ngv.1_Missense_Mutation_p.L101Q	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	499	Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0														0.111111	2.110511	13.021076	8	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17611545	17611545	15022	19	T	A	A	A	715	55	SLC27A1	3	3
JAK3	3718	broad.mit.edu	37	19	17955064	17955064	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17955064C>A	uc002nhn.3	-	c.163G>T	c.(163-165)GTG>TTG	p.V55L	JAK3_uc010ebh.2_Non-coding_Transcript|JAK3_uc002nho.2_Missense_Mutation_p.V55L|JAK3_uc010xpx.1_Missense_Mutation_p.V55L|JAK3_uc010xpy.1_Missense_Mutation_p.V55L	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	55	FERM.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(36)|lung(3)|ovary(3)|stomach(2)|breast(2)	46								2		364				0.176471	6.315367	7.991682	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17955064	17955064	8243	19	C	A	A	A	247	19	JAK3	1	1
ATP8B3	148229	broad.mit.edu	37	19	1796077	1796077	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1796077C>T	uc002ltw.2	-	c.1941G>A	c.(1939-1941)CTG>CTA	p.L647L	ATP8B3_uc002ltv.2_Silent_p.L600L|ATP8B3_uc002ltx.2_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	647	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)								OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.084906	-2.03263	16.630703	9	97	KEEP	---	---	---	---	capture		Silent	SNP	1796077	1796077	1215	19	C	T	T	T	262	21	ATP8B3	2	2
NCAN	1463	broad.mit.edu	37	19	19337642	19337642	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19337642G>T	uc002nlz.2	+	c.1420G>T	c.(1420-1422)GAC>TAC	p.D474Y	NCAN_uc010ecc.1_Missense_Mutation_p.D38Y	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	474					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)											0.067416	-6.925825	10.338012	6	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19337642	19337642	10603	19	G	T	T	T	585	45	NCAN	2	2
TM6SF2	53345	broad.mit.edu	37	19	19377337	19377337	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19377337G>A	uc002nmd.1	-	c.886C>T	c.(886-888)CCA>TCA	p.P296S	HAPLN4_uc002nmc.2_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	296	Helical; (Potential).					integral to membrane					0			Epithelial(12;0.0151)											0.120301	20.123262	38.914671	16	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19377337	19377337	16503	19	G	A	A	A	533	41	TM6SF2	2	2
SF4	57794	broad.mit.edu	37	19	19427244	19427244	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19427244G>A	uc002nmh.2	-	c.193C>T	c.(193-195)CCA>TCA	p.P65S	SF4_uc002nmi.2_5'UTR|SF4_uc002nmj.2_5'UTR|SF4_uc010xqr.1_Non-coding_Transcript|SF4_uc010xqs.1_Non-coding_Transcript	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	65					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0														0.228346	67.20328	75.806317	29	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19427244	19427244	14644	19	G	A	A	A	559	43	SF4	2	2
ZNF208	7757	broad.mit.edu	37	19	22154800	22154800	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22154800C>A	uc002nqp.2	-	c.2652G>T	c.(2650-2652)TGG>TGT	p.W884C	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)	5		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.084507	0.190016	12.637283	6	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22154800	22154800	18357	19	C	A	A	A	234	18	ZNF208	2	2
ZNF681	148213	broad.mit.edu	37	19	23926566	23926566	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:23926566C>A	uc002nrk.3	-	c.1786G>T	c.(1786-1788)GGC>TGC	p.G596C	ZNF681_uc002nrl.3_Missense_Mutation_p.G527C|ZNF681_uc002nrj.3_Missense_Mutation_p.G527C	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	596	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)												0.176471	12.42771	15.782801	6	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23926566	23926566	18683	19	C	A	A	A	273	21	ZNF681	2	2
TSHZ3	57616	broad.mit.edu	37	19	31767851	31767851	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31767851G>T	uc002nsy.3	-	c.2848C>A	c.(2848-2850)CTG>ATG	p.L950M		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	950	Homeobox; atypical.				regulation of respiratory gaseous exchange by neurological system process|regulation of transcription, DNA-dependent	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|skin(1)	7	Esophageal squamous(110;0.226)													0.241379	29.585196	33.161596	14	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31767851	31767851	17176	19	G	T	T	T	438	34	TSHZ3	2	2
TSHZ3	57616	broad.mit.edu	37	19	31769071	31769071	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31769071C>G	uc002nsy.3	-	c.1628G>C	c.(1627-1629)AGC>ACC	p.S543T		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	543					regulation of respiratory gaseous exchange by neurological system process|regulation of transcription, DNA-dependent	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|skin(1)	7	Esophageal squamous(110;0.226)													0.130584	69.12479	107.808772	38	253	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31769071	31769071	17176	19	C	G	G	G	364	28	TSHZ3	3	3
ANKRD27	84079	broad.mit.edu	37	19	33093033	33093033	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:33093033C>A	uc002ntn.1	-	c.2656_splice	c.e26-1	p.N886_splice		NM_032139	NP_115515			ankyrin repeat domain 27 (VPS9 domain)						early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(110;0.137)													0.195312	105.688625	127.859027	50	206	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	33093033	33093033	660	19	C	A	A	A	416	32	ANKRD27	5	2
CCDC123	84902	broad.mit.edu	37	19	33392156	33392156	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:33392156G>A	uc002nty.2	-	c.1728C>T	c.(1726-1728)ATC>ATT	p.I576I	CCDC123_uc002ntx.2_Silent_p.I329I|CCDC123_uc010edg.2_Non-coding_Transcript	NM_032816	NP_116205	Q96ST8	CC123_HUMAN	coiled-coil domain containing 123	576	Potential.					mitochondrion				ovary(3)|pancreas(1)	4	Esophageal squamous(110;0.137)													0.128205	34.420019	66.092122	30	204	KEEP	---	---	---	---	capture		Silent	SNP	33392156	33392156	2879	19	G	A	A	A	577	45	CCDC123	2	2
HAUS5	23354	broad.mit.edu	37	19	36105968	36105968	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36105968G>T	uc002oam.1	+	c.244G>T	c.(244-246)GCT>TCT	p.A82S		NM_015302	NP_056117	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	82	Potential.				cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|microtubule|microtubule organizing center|spindle					0														0.3	15.041317	15.756661	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36105968	36105968	7251	19	G	T	T	T	442	34	HAUS5	2	2
C19orf47	126526	broad.mit.edu	37	19	40832377	40832377	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40832377C>A	uc002oni.3	-	c.567G>T	c.(565-567)CGG>CGT	p.R189R	C19orf47_uc002ong.2_Silent_p.R48R|C19orf47_uc002onh.2_Silent_p.R122R	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	189										ovary(1)	1			Lung(22;0.000636)											0.25	28.947791	31.904307	13	39	KEEP	---	---	---	---	capture		Silent	SNP	40832377	40832377	1994	19	C	A	A	A	275	22	C19orf47	2	2
CYP2A13	1553	broad.mit.edu	37	19	41594903	41594903	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41594903C>T	uc002opt.2	+	c.250C>T	c.(250-252)CAT>TAT	p.H84Y		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	84					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)									0.151261	26.373441	40.240168	18	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41594903	41594903	4326	19	C	T	T	T	221	17	CYP2A13	2	2
MEGF8	1954	broad.mit.edu	37	19	42863308	42863309	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42863308_42863309GG>TT	uc002otl.3	+	c.5201_5202GG>TT	c.(5200-5202)GGG>GTT	p.G1734V	MEGF8_uc002otm.3_Missense_Mutation_p.G1342V	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1801	Extracellular (Potential).|Kelch 11.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)												0.333333	12.568729	12.938374	5	10	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	42863308	42863309	9852	19	GG	TT	TT	TT	559	43	MEGF8	2	2
MEGF8	1954	broad.mit.edu	37	19	42880607	42880607	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42880607G>T	uc002otl.3	+	c.8017G>T	c.(8017-8019)GCC>TCC	p.A2673S	MEGF8_uc002otm.3_Missense_Mutation_p.A2281S|MEGF8_uc002otn.3_Missense_Mutation_p.A334S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2740	Gly-rich.|Cytoplasmic (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)												0.538462	19.806855	19.822159	7	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42880607	42880607	9852	19	G	T	T	T	546	42	MEGF8	2	2
ZNF229	7772	broad.mit.edu	37	19	44933603	44933603	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44933603G>A	uc002oze.1	-	c.1353C>T	c.(1351-1353)CAC>CAT	p.H451H	ZNF229_uc010ejk.1_Silent_p.H105H|ZNF229_uc010ejl.1_Silent_p.H445H	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	451	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0352)												0.101266	4.839551	17.375064	8	71	KEEP	---	---	---	---	capture		Silent	SNP	44933603	44933603	18373	19	G	A	A	A	568	44	ZNF229	2	2
DMPK	1760	broad.mit.edu	37	19	46275986	46275986	+	Silent	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46275986T>A	uc002pdi.1	-	c.1335A>T	c.(1333-1335)ACA>ACT	p.T445T	DMPK_uc010xxs.1_Silent_p.T330T|DMPK_uc002pdd.1_Silent_p.T429T|DMPK_uc002pde.1_Silent_p.T424T|DMPK_uc002pdf.1_Silent_p.T419T|DMPK_uc002pdg.1_Silent_p.T414T|DMPK_uc002pdh.1_Silent_p.T414T|DMPK_uc010xxt.1_Silent_p.T414T	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	myotonic dystrophy protein kinase isoform 1	429					protein phosphorylation|regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)	3		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		Esophageal Squamous(35;307 869 9153 24033 28903)				152				0.20339	28.671979	33.487155	12	47	KEEP	---	---	---	---	capture		Silent	SNP	46275986	46275986	4764	19	T	A	A	A	756	59	DMPK	3	3
SYMPK	8189	broad.mit.edu	37	19	46319799	46319799	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46319799C>T	uc002pdn.2	-	c.3295G>A	c.(3295-3297)GAG>AAG	p.E1099K	RSPH6A_uc002pdm.2_5'Flank	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	1099					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)										0.160714	16.006586	22.088877	9	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46319799	46319799	15960	19	C	T	T	T	390	30	SYMPK	2	2
ELSPBP1	64100	broad.mit.edu	37	19	48517467	48517467	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48517467G>A	uc002pht.2	+	c.110G>A	c.(109-111)GGA>GAA	p.G37E		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1 precursor	37	Fibronectin type-II 1.				single fertilization	extracellular region					0		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)										0.142202	47.971282	74.886905	31	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48517467	48517467	5275	19	G	A	A	A	533	41	ELSPBP1	2	2
LIG1	3978	broad.mit.edu	37	19	48664733	48664733	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48664733A>T	uc002pia.1	-	c.139T>A	c.(139-141)TCC>ACC	p.S47T	LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.S47T|LIG1_uc010xzg.1_Missense_Mutation_p.S17T|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	47					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)	2		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)									0.269091	184.474076	197.678988	74	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48664733	48664733	9107	19	A	T	T	T	130	10	LIG1	3	3
KLK4	9622	broad.mit.edu	37	19	51412000	51412000	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51412000G>T	uc002pua.1	-	c.310C>A	c.(310-312)CGG>AGG	p.R104R	KLK4_uc002pty.1_Silent_p.R55R|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_Silent_p.R9R|KLK4_uc002puc.1_Non-coding_Transcript|KLK4_uc010eoi.1_Silent_p.R9R|KLK4_uc002pud.1_Silent_p.R9R	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4 preproprotein	104	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)										0.209524	54.291081	62.491023	22	83	KEEP	---	---	---	---	capture		Silent	SNP	51412000	51412000	8720	19	G	T	T	T	519	40	KLK4	1	1
CD33	945	broad.mit.edu	37	19	51729106	51729106	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51729106G>T	uc002pwa.2	+	c.466G>T	c.(466-468)GGC>TGC	p.G156C	CD33_uc010eos.1_Missense_Mutation_p.G156C|CD33_uc010eot.1_Missense_Mutation_p.G29C|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	156	Extracellular (Potential).|Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)									0.296	105.626228	110.278833	37	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51729106	51729106	3133	19	G	T	T	T	507	39	CD33	1	1
SIGLEC10	89790	broad.mit.edu	37	19	51918651	51918651	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51918651C>G	uc002pwo.2	-	c.1114G>C	c.(1114-1116)GAG>CAG	p.E372Q	SIGLEC10_uc002pwp.2_Missense_Mutation_p.E314Q|SIGLEC10_uc002pwq.2_Missense_Mutation_p.E314Q|SIGLEC10_uc002pwr.2_Missense_Mutation_p.E372Q|SIGLEC10_uc010ycy.1_Missense_Mutation_p.E282Q|SIGLEC10_uc010ycz.1_Missense_Mutation_p.E324Q|SIGLEC10_uc010eow.2_Missense_Mutation_p.E184Q|SIGLEC10_uc002pws.1_Missense_Mutation_p.E208Q	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	372	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)										0.255319	72.848212	77.960649	24	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51918651	51918651	14801	19	C	G	G	G	390	30	SIGLEC10	3	3
ZNF677	342926	broad.mit.edu	37	19	53747151	53747151	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53747151C>A	uc002qbf.1	-	c.16_splice	c.e4-1	p.G6_splice	ZNF677_uc002qbg.1_Splice_Site_SNP_p.G6_splice|ZNF677_uc002qbh.2_Splice_Site_SNP	NM_182609	NP_872415			zinc finger protein 677						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)										0.065574	-3.954119	8.001731	4	57	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	53747151	53747151	18679	19	C	A	A	A	312	24	ZNF677	5	2
KIR3DL1	3811	broad.mit.edu	37	19	55329796	55329796	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55329796G>T	uc002qhk.3	+	c.97G>T	c.(97-99)GCC>TCC	p.A33S	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_5'UTR|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_5'UTR|KIR3DL1_uc002qhl.3_Missense_Mutation_p.A33S	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	33	Extracellular (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|kidney(1)	3				GBM - Glioblastoma multiforme(193;0.0192)										0.474227	141.840917	141.89715	46	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55329796	55329796	8632	19	G	T	T	T	598	46	KIR3DL1	2	2
NLRP7	199713	broad.mit.edu	37	19	55450980	55450980	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55450980G>T	uc010esl.2	-	c.1291C>A	c.(1291-1293)CCG>ACG	p.P431T	NLRP7_uc002qig.3_Missense_Mutation_p.P403T|NLRP7_uc002qii.3_Missense_Mutation_p.P403T|NLRP7_uc002qih.3_Missense_Mutation_p.P403T|NLRP7_uc010esk.2_Missense_Mutation_p.P403T	NM_001127255	NP_001120727	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	403	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)										0.346154	24.66591	25.209802	9	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55450980	55450980	10885	19	G	T	T	T	559	43	NLRP7	2	2
RDH13	112724	broad.mit.edu	37	19	55568079	55568079	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55568079C>A	uc002qio.3	-	c.282G>T	c.(280-282)CGG>CGT	p.R94R	RDH13_uc002qip.2_Silent_p.R23R|RDH13_uc010yfq.1_Non-coding_Transcript|RDH13_uc010esr.1_5'Flank	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	94					oxidation-reduction process		binding|oxidoreductase activity			large_intestine(1)|ovary(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)									0.064103	-4.891418	10.524844	5	73	KEEP	---	---	---	---	capture		Silent	SNP	55568079	55568079	13661	19	C	A	A	A	327	26	RDH13	2	2
CCDC106	29903	broad.mit.edu	37	19	56160838	56160838	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56160838G>T	uc002qlr.2	+	c.201G>T	c.(199-201)ATG>ATT	p.M67I	CCDC106_uc002qls.2_Missense_Mutation_p.M67I	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	67	Potential.					nucleus					0		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)										0.3	45.315319	47.467027	18	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56160838	56160838	2861	19	G	T	T	T	611	47	CCDC106	2	2
USP29	57663	broad.mit.edu	37	19	57640672	57640672	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57640672C>A	uc002qny.2	+	c.629C>A	c.(628-630)CCA>CAA	p.P210Q		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	210					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			ovary(2)|breast(2)|pancreas(1)	5		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.252336	68.679436	74.636251	27	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57640672	57640672	17623	19	C	A	A	A	273	21	USP29	2	2
USP29	57663	broad.mit.edu	37	19	57642509	57642509	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57642509C>A	uc002qny.2	+	c.2466C>A	c.(2464-2466)GCC>GCA	p.A822A		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	822					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			ovary(2)|breast(2)|pancreas(1)	5		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.276923	47.319037	50.232189	18	47	KEEP	---	---	---	---	capture		Silent	SNP	57642509	57642509	17623	19	C	A	A	A	301	24	USP29	2	2
ZIM3	114026	broad.mit.edu	37	19	57646288	57646288	+	Nonstop_Mutation	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57646288A>G	uc002qnz.1	-	c.1417T>C	c.(1417-1419)TAG>CAG	p.*473Q		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.090909	10.827161	33.071883	12	120	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	57646288	57646288	18276	19	A	G	G	G	208	16	ZIM3	5	4
ZIM3	114026	broad.mit.edu	37	19	57648334	57648334	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57648334C>T	uc002qnz.1	-	c.148G>A	c.(148-150)GGG>AGG	p.G50R		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.327731	117.082692	120.215218	39	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57648334	57648334	18276	19	C	T	T	T	312	24	ZIM3	2	2
ZNF154	7710	broad.mit.edu	37	19	58213094	58213094	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58213094G>T	uc010euf.2	-	c.1223C>A	c.(1222-1224)ACT>AAT	p.T408N	ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_Non-coding_Transcript	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN	zinc finger protein 154	408					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|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;0.0257)										0.08642	-0.047062	14.015456	7	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58213094	58213094	18326	19	G	T	T	T	468	36	ZNF154	2	2
FBN3	84467	broad.mit.edu	37	19	8176862	8176862	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8176862G>A	uc002mjf.2	-	c.3960C>T	c.(3958-3960)CAC>CAT	p.H1320H		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1320	EGF-like 19; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.1375	16.179837	26.264292	11	69	KEEP	---	---	---	---	capture		Silent	SNP	8176862	8176862	5940	19	G	A	A	A	516	40	FBN3	1	1
OR2Z1	284383	broad.mit.edu	37	19	8842204	8842204	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8842204A>T	uc010xkg.1	+	c.814A>T	c.(814-816)AAC>TAC	p.N272Y		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	272	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.27027	121.862723	130.677451	50	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8842204	8842204	11442	19	A	T	T	T	169	13	OR2Z1	3	3
ZNF558	148156	broad.mit.edu	37	19	8922189	8922190	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8922189_8922190CC>AA	uc002mkn.1	-	c.976_977GG>TT	c.(976-978)GGG>TTG	p.G326L	ZNF558_uc010xkh.1_Missense_Mutation_p.G255L|ZNF558_uc010dwg.1_Missense_Mutation_p.G326L	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	zinc finger protein 558	326	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1														0.108108	7.150652	18.413772	8	66	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	8922189	8922190	18584	19	CC	AA	AA	AA	286	22	ZNF558	2	2
MUC16	94025	broad.mit.edu	37	19	9049809	9049809	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9049809G>A	uc002mkp.2	-	c.31822C>T	c.(31822-31824)CCA>TCA	p.P10608S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10610	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.08209	2.314466	26.136042	11	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9049809	9049809	10367	19	G	A	A	A	559	43	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9061051	9061051	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9061051G>T	uc002mkp.2	-	c.26395C>A	c.(26395-26397)CAA>AAA	p.Q8799K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8801	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.29878	138.306059	144.243485	49	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9061051	9061051	10367	19	G	T	T	T	624	48	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9064968	9064968	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9064968G>T	uc002mkp.2	-	c.22478C>A	c.(22477-22479)TCC>TAC	p.S7493Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7495	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.111111	12.990518	38.582895	19	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9064968	9064968	10367	19	G	T	T	T	533	41	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9084426	9084426	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9084426C>A	uc002mkp.2	-	c.7389G>T	c.(7387-7389)TCG>TCT	p.S2463S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2463	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.31746	57.07997	58.944984	20	43	KEEP	---	---	---	---	capture		Silent	SNP	9084426	9084426	10367	19	C	A	A	A	288	23	MUC16	1	1
ZNF699	374879	broad.mit.edu	37	19	9407298	9407298	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9407298C>A	uc002mlc.1	-	c.782G>T	c.(781-783)AGC>ATC	p.S261I		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	zinc finger protein 699	261	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.325	107.679324	110.942629	39	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9407298	9407298	18696	19	C	A	A	A	364	28	ZNF699	2	2
ZNF560	147741	broad.mit.edu	37	19	9578134	9578134	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9578134A>T	uc002mlp.1	-	c.1489T>A	c.(1489-1491)TTT>ATT	p.F497I	ZNF560_uc010dwr.1_Missense_Mutation_p.F391I	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	497	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|large_intestine(1)|liver(1)|pancreas(1)	4														0.071429	-8.477892	28.604118	14	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9578134	9578134	18586	19	A	T	T	T	39	3	ZNF560	3	3
NTNG1	22854	broad.mit.edu	37	1	107937801	107937801	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:107937801G>C	uc001dvh.3	+	c.913G>C	c.(913-915)GTA>CTA	p.V305L	NTNG1_uc001dvf.3_Missense_Mutation_p.V305L|NTNG1_uc010out.1_Missense_Mutation_p.V305L|NTNG1_uc001dvc.3_Missense_Mutation_p.V305L|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_Non-coding_Transcript|NTNG1_uc009wek.2_Non-coding_Transcript|NTNG1_uc001dvg.2_Non-coding_Transcript|NTNG1_uc009wem.2_5'UTR|NTNG1_uc001dvd.1_Missense_Mutation_p.V305L	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	305	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)	4		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)										0.103448	23.611868	46.314309	15	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107937801	107937801	11109	1	G	C	C	C	624	48	NTNG1	3	3
FNDC7	163479	broad.mit.edu	37	1	109270669	109270669	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109270669C>T	uc001dvx.2	+	c.1351C>T	c.(1351-1353)CCC>TCC	p.P451S	FNDC7_uc010ova.1_Missense_Mutation_p.P218S	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	452	Fibronectin type-III 5.					extracellular region				ovary(1)	1		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)										0.124402	34.597548	63.422631	26	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109270669	109270669	6215	1	C	T	T	T	390	30	FNDC7	2	2
MTHFR	4524	broad.mit.edu	37	1	11852386	11852386	+	Silent	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11852386T>C	uc001atb.1	-	c.1650A>G	c.(1648-1650)CAA>CAG	p.Q550Q	MTHFR_uc001atc.1_Silent_p.Q527Q	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	527					blood circulation|folic acid metabolic process|oxidation-reduction process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)									0.126126	51.052099	81.330679	28	194	KEEP	---	---	---	---	capture		Silent	SNP	11852386	11852386	10324	1	T	C	C	C	725	56	MTHFR	4	4
HMGCS2	3158	broad.mit.edu	37	1	120298156	120298156	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:120298156G>C	uc001eid.2	-	c.1081C>G	c.(1081-1083)CAG>GAG	p.Q361E	HMGCS2_uc010oxj.1_Missense_Mutation_p.Q319E|HMGCS2_uc001eie.2_Missense_Mutation_p.Q269E	NM_005518	NP_005509	P54868	HMCS2_HUMAN	hydroxymethylglutaryl-CoA synthase 2 isoform 1	361					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			ovary(2)	2	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)										0.094488	96.986687	243.827652	84	805	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120298156	120298156	7524	1	G	C	C	C	585	45	HMGCS2	3	3
NOTCH2	4853	broad.mit.edu	37	1	120471800	120471800	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:120471800G>C	uc001eik.2	-	c.3691C>G	c.(3691-3693)CGG>GGG	p.R1231G		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1231	EGF-like 32; calcium-binding (Potential).|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(7)|ovary(4)|lung(3)|central_nervous_system(2)|kidney(2)|breast(1)	19	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)					p.R1231W(SW48-Tumor)	581				0.267857	39.793443	42.523691	15	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120471800	120471800	10951	1	G	C	C	C	506	39	NOTCH2	3	3
PRAMEF1	65121	broad.mit.edu	37	1	12853516	12853516	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12853516G>T	uc001auj.1	+	c.140G>T	c.(139-141)AGA>ATA	p.R47I		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	47											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.119355	36.158502	80.2575	37	273	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12853516	12853516	12861	1	G	T	T	T	429	33	PRAMEF1	2	2
PRAMEF8	391002	broad.mit.edu	37	1	12979865	12979865	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12979865C>A	uc001aup.2	+	c.1057C>A	c.(1057-1059)CTG>ATG	p.L353M		NM_001012276	NP_001012276	Q5VWM4	PRAM8_HUMAN	PRAME family member 8	353	LRR 2.										0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.100917	3.656323	20.989863	11	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12979865	12979865	12881	1	C	A	A	A	311	24	PRAMEF8	2	2
TCHH	7062	broad.mit.edu	37	1	152080695	152080695	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152080695G>T	uc001ezp.2	-	c.4998C>A	c.(4996-4998)GAC>GAA	p.D1666E	TCHH_uc009wne.1_Missense_Mutation_p.D1666E	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1666	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.477707	471.786185	471.924266	150	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152080695	152080695	16226	1	G	T	T	T	620	48	TCHH	2	2
HRNR	388697	broad.mit.edu	37	1	152191479	152191479	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152191479G>C	uc001ezt.1	-	c.2626C>G	c.(2626-2628)CAC>GAC	p.H876D		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	876	10.				keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.078818	9.062536	45.818694	16	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152191479	152191479	7653	1	G	C	C	C	585	45	HRNR	3	3
HRNR	388697	broad.mit.edu	37	1	152193740	152193740	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152193740C>T	uc001ezt.1	-	c.365G>A	c.(364-366)CGG>CAG	p.R122Q		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	122	1.				keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.082237	3.437823	57.424845	25	279	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152193740	152193740	7653	1	C	T	T	T	299	23	HRNR	1	1
FLG	2312	broad.mit.edu	37	1	152285627	152285627	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152285627C>A	uc001ezu.1	-	c.1735G>T	c.(1735-1737)GAC>TAC	p.D579Y		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	579	Filaggrin 3.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.076759	-36.897633	135.281276	72	866	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152285627	152285627	6160	1	C	A	A	A	416	32	FLG	2	2
FLG	2312	broad.mit.edu	37	1	152286112	152286112	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152286112G>C	uc001ezu.1	-	c.1250C>G	c.(1249-1251)TCT>TGT	p.S417C		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	417	Ser-rich.|Filaggrin 2.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.132251	207.744155	321.000505	114	748	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152286112	152286112	6160	1	G	C	C	C	429	33	FLG	3	3
FLG2	388698	broad.mit.edu	37	1	152328819	152328819	+	Silent	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152328819T>C	uc001ezw.3	-	c.1443A>G	c.(1441-1443)CAA>CAG	p.Q481Q		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	481	Ser-rich.						calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.063077	-17.028451	112.143415	41	609	KEEP	---	---	---	---	capture		Silent	SNP	152328819	152328819	6161	1	T	C	C	C	777	60	FLG2	4	4
PKLR	5313	broad.mit.edu	37	1	155269945	155269946	+	Missense_Mutation	DNP	AG	TT	TT			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155269945_155269946AG>TT	uc001fkb.3	-	c.226_227CT>AA	c.(226-228)CTG>AAG	p.L76K	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.L45K|PKLR_uc010pga.1_Missense_Mutation_p.L12K	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	76					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(3)|ovary(1)	4	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)									0.345679	163.888505	167.324104	56	106	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	155269945	155269946	12401	1	AG	TT	TT	TT	91	7	PKLR	3	3
SEMA4A	64218	broad.mit.edu	37	1	156146368	156146368	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156146368C>T	uc001fnl.2	+	c.1866C>T	c.(1864-1866)TAC>TAT	p.Y622Y	SEMA4A_uc009wrq.2_Silent_p.Y622Y|SEMA4A_uc001fnm.2_Silent_p.Y622Y|SEMA4A_uc001fnn.2_Silent_p.Y490Y|SEMA4A_uc001fno.2_Silent_p.Y622Y	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	622	Extracellular (Potential).|Ig-like C2-type.				axon guidance|visual perception	integral to membrane|plasma membrane	receptor activity			ovary(1)	1	Hepatocellular(266;0.158)													0.086093	2.463219	28.673793	13	138	KEEP	---	---	---	---	capture		Silent	SNP	156146368	156146368	14517	1	C	T	T	T	233	18	SEMA4A	2	2
FCRL5	83416	broad.mit.edu	37	1	157490914	157490914	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157490914G>T	uc001fqu.2	-	c.2408C>A	c.(2407-2409)GCG>GAG	p.A803E	FCRL5_uc009wsm.2_Missense_Mutation_p.A803E	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	803	Extracellular (Potential).|Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)												0.221106	104.094437	118.34473	44	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157490914	157490914	6035	1	G	T	T	T	494	38	FCRL5	1	1
FCRL3	115352	broad.mit.edu	37	1	157659676	157659676	+	Silent	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157659676A>T	uc001fqz.3	-	c.1722T>A	c.(1720-1722)GCT>GCA	p.A574A	FCRL3_uc001fqx.3_Non-coding_Transcript|FCRL3_uc001fqy.3_Non-coding_Transcript|FCRL3_uc009wsn.2_Non-coding_Transcript|FCRL3_uc009wso.2_Non-coding_Transcript|FCRL3_uc001fra.2_Silent_p.A300A|FCRL3_uc001frb.2_Silent_p.A574A|FCRL3_uc001frc.1_Silent_p.A574A	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	574	Helical; (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)													0.139535	21.269312	32.039595	12	74	KEEP	---	---	---	---	capture		Silent	SNP	157659676	157659676	6033	1	A	T	T	T	80	7	FCRL3	3	3
CELA2A	63036	broad.mit.edu	37	1	15788109	15788109	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:15788109C>A	uc001awk.2	+	c.183C>A	c.(181-183)TCC>TCA	p.S61S		NM_033440	NP_254275	P08217	CEL2A_HUMAN	elastase 2A preproprotein	61	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2														0.110169	12.101375	29.836156	13	105	KEEP	---	---	---	---	capture		Silent	SNP	15788109	15788109	3344	1	C	A	A	A	275	22	CELA2A	2	2
OR10K1	391109	broad.mit.edu	37	1	158435417	158435417	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158435417G>A	uc010pij.1	+	c.66G>A	c.(64-66)AGG>AGA	p.R22R		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.12	14.032575	28.196859	12	88	KEEP	---	---	---	---	capture		Silent	SNP	158435417	158435417	11319	1	G	A	A	A	542	42	OR10K1	2	2
OR10K1	391109	broad.mit.edu	37	1	158436249	158436249	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158436249G>T	uc010pij.1	+	c.898G>T	c.(898-900)GCC>TCC	p.A300S		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.168317	29.604139	40.137772	17	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158436249	158436249	11319	1	G	T	T	T	442	34	OR10K1	2	2
OR10R2	343406	broad.mit.edu	37	1	158450094	158450094	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158450094T>A	uc010pik.1	+	c.427T>A	c.(427-429)TAT>AAT	p.Y143N		NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	143	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)	2	all_hematologic(112;0.0378)													0.151111	56.676289	82.861673	34	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158450094	158450094	11323	1	T	A	A	A	689	53	OR10R2	3	3
OR10Z1	128368	broad.mit.edu	37	1	158576803	158576803	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158576803C>A	uc010pio.1	+	c.575C>A	c.(574-576)ACA>AAA	p.T192K		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.19598	85.398741	102.554144	39	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158576803	158576803	11329	1	C	A	A	A	221	17	OR10Z1	2	2
SPTA1	6708	broad.mit.edu	37	1	158632624	158632624	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158632624G>T	uc001fst.1	-	c.2332C>A	c.(2332-2334)CTG>ATG	p.L778M		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	778	Spectrin 8.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.276596	31.147765	33.264482	13	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158632624	158632624	15630	1	G	T	T	T	425	33	SPTA1	2	2
OR6K2	81448	broad.mit.edu	37	1	158670322	158670322	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158670322C>A	uc001fsu.1	-	c.121G>T	c.(121-123)GGA>TGA	p.G41*		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.114754	7.276587	16.203207	7	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	158670322	158670322	11612	1	C	A	A	A	273	21	OR6K2	5	2
OR6K6	128371	broad.mit.edu	37	1	158724612	158724612	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158724612C>T	uc001fsw.1	+	c.7C>T	c.(7-9)CAA>TAA	p.Q3*		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)													0.098214	3.82939	21.947931	11	101	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	158724612	158724612	11614	1	C	T	T	T	325	25	OR6K6	5	2
IFI16	3428	broad.mit.edu	37	1	158988130	158988130	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158988130C>G	uc001ftg.2	+	c.661C>G	c.(661-663)CCA>GCA	p.P221A	IFI16_uc010pis.1_Missense_Mutation_p.P165A|IFI16_uc001ftf.1_Missense_Mutation_p.P221A	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	221	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nucleolus|nucleoplasm	double-stranded DNA binding|transcription repressor activity			ovary(1)	1	all_hematologic(112;0.0429)													0.20202	50.537744	58.712281	20	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158988130	158988130	7812	1	C	G	G	G	286	22	IFI16	3	3
AIM2	9447	broad.mit.edu	37	1	159035799	159035799	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159035799C>A	uc001ftj.1	-	c.717G>T	c.(715-717)CCG>CCT	p.P239P		NM_004833	NP_004824	O14862	AIM2_HUMAN	absent in melanoma 2	239	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				ovary(2)|pancreas(1)	3	all_hematologic(112;0.0429)													0.140845	51.406571	77.920527	30	183	KEEP	---	---	---	---	capture		Silent	SNP	159035799	159035799	435	1	C	A	A	A	340	27	AIM2	1	1
AIM2	9447	broad.mit.edu	37	1	159035909	159035909	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159035909G>T	uc001ftj.1	-	c.607C>A	c.(607-609)CCA>ACA	p.P203T		NM_004833	NP_004824	O14862	AIM2_HUMAN	absent in melanoma 2	203	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				ovary(2)|pancreas(1)	3	all_hematologic(112;0.0429)													0.173184	57.722621	75.772191	31	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159035909	159035909	435	1	G	T	T	T	533	41	AIM2	2	2
OR10J3	441911	broad.mit.edu	37	1	159284112	159284112	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159284112C>A	uc010piu.1	-	c.338G>T	c.(337-339)TGC>TTC	p.C113F		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	113	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)													0.229358	57.208988	64.53931	25	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159284112	159284112	11317	1	C	A	A	A	325	25	OR10J3	2	2
APCS	325	broad.mit.edu	37	1	159558031	159558031	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159558031T>C	uc001ftv.2	+	c.205T>C	c.(205-207)TTC>CTC	p.F69L		NM_001639	NP_001630	P02743	SAMP_HUMAN	serum amyloid P component precursor	69	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			ovary(1)|breast(1)	2	all_hematologic(112;0.0429)													0.217054	82.434023	91.95333	28	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159558031	159558031	777	1	T	C	C	C	728	56	APCS	4	4
SLAMF8	56833	broad.mit.edu	37	1	159803141	159803141	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159803141C>T	uc001fue.3	+	c.763C>T	c.(763-765)CAC>TAC	p.H255Y		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	SLAM family member 8 precursor	255	Cytoplasmic (Potential).					integral to membrane					0	all_hematologic(112;0.0597)													0.24127	162.506213	181.778042	76	239	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159803141	159803141	14865	1	C	T	T	T	325	25	SLAMF8	2	2
TMEM82	388595	broad.mit.edu	37	1	16070920	16070921	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16070920_16070921CC>AA	uc001axc.2	+	c.602_603CC>AA	c.(601-603)CCC>CAA	p.P201Q		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	transmembrane protein 82	201	Leu-rich.					integral to membrane				breast(1)|central_nervous_system(1)	2		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.266667	8.369468	9.127918	4	11	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	16070920	16070921	16745	1	CC	AA	AA	AA	286	22	TMEM82	2	2
ADAMTS4	9507	broad.mit.edu	37	1	161161117	161161117	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161161117C>T	uc001fyt.3	-	c.2325G>A	c.(2323-2325)GGG>GGA	p.G775G		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	775	Spacer.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)											0.146667	14.106433	23.087162	11	64	KEEP	---	---	---	---	capture		Silent	SNP	161161117	161161117	269	1	C	T	T	T	327	26	ADAMTS4	2	2
ADAMTS4	9507	broad.mit.edu	37	1	161165959	161165959	+	Splice_Site_SNP	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161165959A>T	uc001fyt.3	-	c.1090_splice	c.e3+1	p.G364_splice	ADAMTS4_uc001fyu.2_3'UTR	NM_005099	NP_005090			ADAM metallopeptidase with thrombospondin type 1						proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)											0.306533	164.441305	171.061972	61	138	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	161165959	161165959	269	1	A	T	T	T	182	14	ADAMTS4	5	3
FCER1G	2207	broad.mit.edu	37	1	161187846	161187846	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161187846C>A	uc001fza.1	+	c.120C>A	c.(118-120)ACC>ACA	p.T40T	FCER1G_uc001fyz.1_Silent_p.T40T	NM_004106	NP_004097	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor	40	Helical; (Potential).				platelet activation	integral to plasma membrane					0	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)									0.048843	-52.255808	31.879995	19	370	KEEP	---	---	---	---	capture		Silent	SNP	161187846	161187846	6012	1	C	A	A	A	275	22	FCER1G	2	2
NR1I3	9970	broad.mit.edu	37	1	161202960	161202960	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161202960C>T	uc001fzp.2	-	c.407G>A	c.(406-408)AGG>AAG	p.R136K	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.R136K|NR1I3_uc001fzg.2_Missense_Mutation_p.R107K|NR1I3_uc001fzh.2_Missense_Mutation_p.R107K|NR1I3_uc001fzi.2_Missense_Mutation_p.R107K|NR1I3_uc001fzj.2_Missense_Mutation_p.R107K|NR1I3_uc001fzk.2_Missense_Mutation_p.R107K|NR1I3_uc001fzl.2_Missense_Mutation_p.R107K|NR1I3_uc001fzm.2_Missense_Mutation_p.R61K|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_Intron|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.R136K|NR1I3_uc001fzx.2_Missense_Mutation_p.R136K|NR1I3_uc001fzy.2_Missense_Mutation_p.R136K|NR1I3_uc001fzz.2_Missense_Mutation_p.R136K|NR1I3_uc001gaa.2_Missense_Mutation_p.R136K|NR1I3_uc001gab.2_Missense_Mutation_p.R136K|NR1I3_uc001gac.2_Missense_Mutation_p.R107K|NR1I3_uc010pkm.1_Missense_Mutation_p.R107K|NR1I3_uc010pkn.1_Missense_Mutation_p.R136K	NM_001077482	NP_001070950	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 1	136					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)	1	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)											0.071698	-8.322348	91.77187	38	492	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161202960	161202960	11026	1	C	T	T	T	312	24	NR1I3	2	2
SPEN	23013	broad.mit.edu	37	1	16258070	16258070	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16258070G>T	uc001axk.1	+	c.5335G>T	c.(5335-5337)GCC>TCC	p.A1779S	SPEN_uc010obp.1_Missense_Mutation_p.A1738S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1779					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	14		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)						551				0.094972	10.038061	39.522413	17	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16258070	16258070	15550	1	G	T	T	T	494	38	SPEN	1	1
PRRX1	5396	broad.mit.edu	37	1	170695491	170695491	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:170695491C>A	uc001ghf.2	+	c.548C>A	c.(547-549)CCT>CAT	p.P183H	PRRX1_uc001ghe.2_Missense_Mutation_p.P183H	NM_022716	NP_073207	P54821	PRRX1_HUMAN	paired mesoderm homeobox 1 isoform pmx-1b	183						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)									186				0.22549	52.961925	59.960535	23	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170695491	170695491	13062	1	C	A	A	A	312	24	PRRX1	2	2
TNN	63923	broad.mit.edu	37	1	175053004	175053004	+	Silent	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175053004A>T	uc001gkl.1	+	c.1167A>T	c.(1165-1167)ACA>ACT	p.T389T	TNN_uc010pmx.1_Silent_p.T389T	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	389	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)						470				0.075188	-0.946452	23.664302	10	123	KEEP	---	---	---	---	capture		Silent	SNP	175053004	175053004	16864	1	A	T	T	T	80	7	TNN	3	3
TNN	63923	broad.mit.edu	37	1	175067651	175067651	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175067651C>A	uc001gkl.1	+	c.2039C>A	c.(2038-2040)CCG>CAG	p.P680Q	TNN_uc010pmx.1_Missense_Mutation_p.P591Q	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	680	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)						470				0.116129	21.854589	44.323778	18	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175067651	175067651	16864	1	C	A	A	A	299	23	TNN	1	1
TNN	63923	broad.mit.edu	37	1	175087879	175087879	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175087879C>A	uc001gkl.1	+	c.2569C>A	c.(2569-2571)CCG>ACG	p.P857T		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	857	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)						470				0.139535	25.991298	42.161461	18	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175087879	175087879	16864	1	C	A	A	A	338	26	TNN	2	2
TNN	63923	broad.mit.edu	37	1	175092742	175092742	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175092742G>T	uc001gkl.1	+	c.2857G>T	c.(2857-2859)GTG>TTG	p.V953L		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	953	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)						470				0.145833	25.785107	37.363942	14	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175092742	175092742	16864	1	G	T	T	T	520	40	TNN	1	1
TNR	7143	broad.mit.edu	37	1	175299342	175299342	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175299342G>A	uc001gkp.1	-	c.3661C>T	c.(3661-3663)CAG>TAG	p.Q1221*	TNR_uc009wwu.1_Nonsense_Mutation_p.Q1221*	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1221	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.26087	59.658828	64.42107	24	68	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	175299342	175299342	16879	1	G	A	A	A	611	47	TNR	5	2
PLA2G4A	5321	broad.mit.edu	37	1	186934605	186934605	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186934605G>T	uc001gsc.2	+	c.1644G>T	c.(1642-1644)GTG>GTT	p.V548V	PLA2G4A_uc010pos.1_Silent_p.V488V	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	548	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(1)	1					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)									0.264368	57.479353	61.850684	23	64	KEEP	---	---	---	---	capture		Silent	SNP	186934605	186934605	12427	1	G	T	T	T	600	47	PLA2G4A	2	2
FAM5C	339479	broad.mit.edu	37	1	190067155	190067155	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190067155C>A	uc001gse.1	-	c.2294G>T	c.(2293-2295)TGT>TTT	p.C765F	FAM5C_uc010pot.1_Missense_Mutation_p.C663F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	765						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.077295	-0.272856	37.581653	16	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190067155	190067155	5817	1	C	A	A	A	221	17	FAM5C	2	2
PAX7	5081	broad.mit.edu	37	1	19018403	19018403	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19018403G>T	uc001bay.2	+	c.742G>T	c.(742-744)GAG>TAG	p.E248*	PAX7_uc001baz.2_Nonsense_Mutation_p.E246*|PAX7_uc010oct.1_Nonsense_Mutation_p.E248*	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	248	Homeobox.				anti-apoptosis|regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity		PAX7/FOXO1(197)	soft_tissue(197)|ovary(1)|lung(1)	199		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)						129				0.09375	3.099336	13.72082	6	58	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	19018403	19018403	11904	1	G	T	T	T	481	37	PAX7	5	1
FAM5C	339479	broad.mit.edu	37	1	190203541	190203541	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190203541C>T	uc001gse.1	-	c.685G>A	c.(685-687)GTT>ATT	p.V229I	FAM5C_uc010pot.1_Missense_Mutation_p.V127I	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	229						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.15	10.521396	15.220961	6	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190203541	190203541	5817	1	C	T	T	T	221	17	FAM5C	2	2
FAM5C	339479	broad.mit.edu	37	1	190234069	190234069	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190234069C>A	uc001gse.1	-	c.544G>T	c.(544-546)GCT>TCT	p.A182S	FAM5C_uc010pot.1_Missense_Mutation_p.A80S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	182						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.245098	63.930931	69.963167	25	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190234069	190234069	5817	1	C	A	A	A	351	27	FAM5C	1	1
RGS1	5996	broad.mit.edu	37	1	192544976	192544976	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:192544976C>A	uc001gsi.1	+	c.54C>A	c.(52-54)TTC>TTA	p.F18L	RGS1_uc010pou.1_Missense_Mutation_p.F18L	NM_002922	NP_002913	Q08116	RGS1_HUMAN	regulator of G-protein signalling 1	18					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity				0		Breast(1374;0.188)												0.173913	6.987639	9.295294	4	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	192544976	192544976	13766	1	C	A	A	A	415	32	RGS1	2	2
GABRD	2563	broad.mit.edu	37	1	1961087	1961087	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1961087G>T	uc001aip.2	+	c.945G>T	c.(943-945)TGG>TGT	p.W315C		NM_000815	NP_000806	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	315	Helical; (Probable).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)										0.119048	9.657222	21.572977	10	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1961087	1961087	6420	1	G	T	T	T	533	41	GABRD	2	2
CFHR4	10877	broad.mit.edu	37	1	196871708	196871708	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196871708C>A	uc001gtp.2	+	c.219C>A	c.(217-219)TGC>TGA	p.C73*	CFHR4_uc001gto.2_Nonsense_Mutation_p.C73*|CFHR4_uc009wyy.2_Nonsense_Mutation_p.C72*	NM_006684	NM_006684	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	73	Sushi 1.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)	2														0.083333	0.5569	21.735158	10	110	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	196871708	196871708	3420	1	C	A	A	A	324	25	CFHR4	5	2
CACNA1S	779	broad.mit.edu	37	1	201039427	201039427	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201039427G>C	uc001gvv.2	-	c.2333C>G	c.(2332-2334)TCC>TGC	p.S778C		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	778	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)	4					Magnesium Sulfate(DB00653)|Verapamil(DB00661)									0.202247	101.555603	116.171192	36	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201039427	201039427	2663	1	G	C	C	C	533	41	CACNA1S	3	3
IPO9	55705	broad.mit.edu	37	1	201832721	201832721	+	Silent	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201832721G>C	uc001gwz.2	+	c.1614G>C	c.(1612-1614)GTG>GTC	p.V538V		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	538					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2														0.186992	65.449987	76.736634	23	100	KEEP	---	---	---	---	capture		Silent	SNP	201832721	201832721	8100	1	G	C	C	C	574	45	IPO9	3	3
PPP1R12B	4660	broad.mit.edu	37	1	202391829	202391829	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:202391829C>T	uc001gxz.1	+	c.504C>T	c.(502-504)GCC>GCT	p.A168A	PPP1R12B_uc001gxy.2_Silent_p.A168A|PPP1R12B_uc009xad.1_Intron|PPP1R12B_uc009xae.1_Silent_p.A168A|PPP1R12B_uc001gya.1_Silent_p.A168A	NM_032105	NP_115288	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	168					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)											0.152174	22.075791	32.755899	14	78	KEEP	---	---	---	---	capture		Silent	SNP	202391829	202391829	12790	1	C	T	T	T	262	21	PPP1R12B	2	2
PPP1R12B	4660	broad.mit.edu	37	1	202391853	202391853	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:202391853A>T	uc001gxz.1	+	c.528A>T	c.(526-528)CAA>CAT	p.Q176H	PPP1R12B_uc001gxy.2_Missense_Mutation_p.Q176H|PPP1R12B_uc009xad.1_Intron|PPP1R12B_uc009xae.1_Missense_Mutation_p.Q176H|PPP1R12B_uc001gya.1_Missense_Mutation_p.Q176H	NM_032105	NP_115288	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	176					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)											0.139241	17.590045	27.508636	11	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202391853	202391853	12790	1	A	T	T	T	37	3	PPP1R12B	3	3
DSTYK	25778	broad.mit.edu	37	1	205138360	205138360	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205138360T>C	uc001hbw.2	-	c.1255A>G	c.(1255-1257)ATG>GTG	p.M419V	DSTYK_uc001hbx.2_Missense_Mutation_p.M419V|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	419	Potential.				protein phosphorylation	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1										236				0.07483	3.946224	31.175453	11	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	205138360	205138360	4969	1	T	C	C	C	637	49	DSTYK	4	4
CR1	1378	broad.mit.edu	37	1	207751170	207751170	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207751170C>A	uc001hfx.2	+	c.4558C>A	c.(4558-4560)CCA>ACA	p.P1520T	CR1_uc009xcl.1_Missense_Mutation_p.P620T|CR1_uc001hfy.2_Missense_Mutation_p.P1070T	NM_000651	NP_000642	P17927	CR1_HUMAN	complement receptor 1 isoform S precursor	1070	Extracellular (Potential).|Sushi 17.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3														0.20354	51.458102	60.680568	23	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207751170	207751170	3979	1	C	A	A	A	286	22	CR1	2	2
HSD11B1	3290	broad.mit.edu	37	1	209880128	209880129	+	Missense_Mutation	DNP	CG	TC	TC			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:209880128_209880129CG>TC	uc001hhj.2	+	c.294_295CG>TC	c.(292-297)TTCGCA>TTTCCA	p.A99P	HSD11B1_uc001hhk.2_Missense_Mutation_p.A99P	NM_181755	NP_861420	P28845	DHI1_HUMAN	11-beta-hydroxysteroid dehydrogenase 1	99	Lumenal (Potential).				glucocorticoid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)									0.110727	32.885631	76.203942	32	257	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	209880128	209880129	7670	1	CG	TC	TC	TC	402	31	HSD11B1	1	1
TRAF3IP3	80342	broad.mit.edu	37	1	209933490	209933490	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:209933490C>A	uc001hho.2	+	c.106C>A	c.(106-108)CGT>AGT	p.R36S	TRAF3IP3_uc001hhl.2_Missense_Mutation_p.R36S|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.R36S|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.R36S|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.R36S	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	36	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)										0.150943	12.571986	18.755257	8	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	209933490	209933490	16986	1	C	A	A	A	299	23	TRAF3IP3	1	1
C1orf74	148304	broad.mit.edu	37	1	209956858	209956858	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:209956858C>G	uc001hhp.1	-	c.122G>C	c.(121-123)GGA>GCA	p.G41A		NM_152485	NP_689698	Q96LT6	CA074_HUMAN	hypothetical protein LOC148304	41											0				OV - Ovarian serous cystadenocarcinoma(81;0.0328)										0.162162	74.308945	94.423545	30	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	209956858	209956858	2134	1	C	G	G	G	390	30	C1orf74	3	3
SYT14	255928	broad.mit.edu	37	1	210267766	210267766	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:210267766C>A	uc001hhs.3	+	c.677C>A	c.(676-678)CCC>CAC	p.P226H	SYT14_uc001hht.3_Missense_Mutation_p.P181H|SYT14_uc001hhu.3_Non-coding_Transcript|SYT14_uc010psn.1_Missense_Mutation_p.P226H|SYT14_uc010pso.1_Missense_Mutation_p.P143H|SYT14_uc009xcv.2_Missense_Mutation_p.P181H	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 1	181	Cytoplasmic (Potential).					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)										0.166667	13.496093	17.922828	7	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	210267766	210267766	15991	1	C	A	A	A	286	22	SYT14	2	2
KCNH1	3756	broad.mit.edu	37	1	210857003	210857003	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:210857003C>T	uc001hib.2	-	c.2590G>A	c.(2590-2592)GAG>AAG	p.E864K	KCNH1_uc001hic.2_Missense_Mutation_p.E837K	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	864	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)										0.221698	109.212468	124.322309	47	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	210857003	210857003	8336	1	C	T	T	T	403	31	KCNH1	1	1
USH2A	7399	broad.mit.edu	37	1	215807871	215807871	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215807871C>A	uc001hku.1	-	c.15227G>T	c.(15226-15228)AGA>ATA	p.R5076I		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	5076	Cytoplasmic (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.203008	52.741269	63.645421	27	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215807871	215807871	17598	1	C	A	A	A	416	32	USH2A	2	2
USH2A	7399	broad.mit.edu	37	1	215901708	215901708	+	Silent	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215901708T>C	uc001hku.1	-	c.11730A>G	c.(11728-11730)GAA>GAG	p.E3910E		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3910	Fibronectin type-III 24.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.075758	2.122577	14.297032	5	61	KEEP	---	---	---	---	capture		Silent	SNP	215901708	215901708	17598	1	T	C	C	C	725	56	USH2A	4	4
USH2A	7399	broad.mit.edu	37	1	215972391	215972391	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215972391C>A	uc001hku.1	-	c.9816G>T	c.(9814-9816)CCG>CCT	p.P3272P		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3272	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.176471	18.448026	23.476434	9	42	KEEP	---	---	---	---	capture		Silent	SNP	215972391	215972391	17598	1	C	A	A	A	236	19	USH2A	1	1
USH2A	7399	broad.mit.edu	37	1	216420298	216420298	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216420298C>T	uc001hku.1	-	c.2438G>A	c.(2437-2439)GGG>GAG	p.G813E	USH2A_uc001hkv.2_Missense_Mutation_p.G813E	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	813	Extracellular (Potential).|Laminin EGF-like 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.203704	26.325753	30.703174	11	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216420298	216420298	17598	1	C	T	T	T	286	22	USH2A	2	2
USH2A	7399	broad.mit.edu	37	1	216498839	216498839	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216498839C>A	uc001hku.1	-	c.951G>T	c.(949-951)CGG>CGT	p.R317R	USH2A_uc001hkv.2_Silent_p.R317R	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	317	Laminin N-terminal.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.227273	46.765767	52.766708	20	68	KEEP	---	---	---	---	capture		Silent	SNP	216498839	216498839	17598	1	C	A	A	A	223	18	USH2A	2	2
TGFB2	7042	broad.mit.edu	37	1	218609453	218609453	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:218609453G>T	uc001hln.2	+	c.980G>T	c.(979-981)CGG>CTG	p.R327L	TGFB2_uc001hlm.2_Missense_Mutation_p.R299L|TGFB2_uc010pue.1_Non-coding_Transcript|TGFB2_uc001hlo.2_Non-coding_Transcript	NM_001135599	NP_001129071	P61812	TGFB2_HUMAN	transforming growth factor, beta 2 isoform 1	299					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)						137				0.2	46.342003	54.713492	20	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	218609453	218609453	16346	1	G	T	T	T	507	39	TGFB2	1	1
HHIPL2	79802	broad.mit.edu	37	1	222715445	222715445	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:222715445G>T	uc001hnh.1	-	c.1027C>A	c.(1027-1029)CTT>ATT	p.L343I		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	343					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)										0.168539	25.663419	34.931041	15	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	222715445	222715445	7378	1	G	T	T	T	429	33	HHIPL2	2	2
DISP1	84976	broad.mit.edu	37	1	223176687	223176687	+	Missense_Mutation	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:223176687A>G	uc001hnu.1	+	c.1948A>G	c.(1948-1950)ACA>GCA	p.T650A		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	650	Helical; (Potential).|SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)										0.228426	117.492386	130.807137	45	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	223176687	223176687	4718	1	A	G	G	G	78	6	DISP1	4	4
CAPN2	824	broad.mit.edu	37	1	223934731	223934731	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:223934731G>T	uc001hob.3	+	c.593G>T	c.(592-594)GGT>GTT	p.G198V	CAPN2_uc010puy.1_Missense_Mutation_p.G120V	NM_001748	NP_001739	P17655	CAN2_HUMAN	calpain 2 isoform 1	198	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane					0				GBM - Glioblastoma multiforme(131;0.109)										0.162162	65.094354	89.162484	36	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	223934731	223934731	2745	1	G	T	T	T	572	44	CAPN2	2	2
PRSS38	339501	broad.mit.edu	37	1	228003800	228003800	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228003800G>T	uc001hrh.2	+	c.158G>T	c.(157-159)CGG>CTG	p.R53L		NM_183062	NP_898885	A1L453	PRS38_HUMAN	marapsin 2 precursor	53					proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)|pancreas(1)	2														0.096154	6.78481	32.260865	15	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228003800	228003800	13077	1	G	T	T	T	507	39	PRSS38	1	1
MTR	4548	broad.mit.edu	37	1	237023177	237023177	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237023177G>T	uc001hyi.3	+	c.1998G>T	c.(1996-1998)TGG>TGT	p.W666C	MTR_uc010pxw.1_Missense_Mutation_p.W259C|MTR_uc010pxx.1_Missense_Mutation_p.W666C|MTR_uc010pxy.1_Missense_Mutation_p.W520C	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	666	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)									0.095652	5.132531	24.003339	11	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237023177	237023177	10351	1	G	T	T	T	533	41	MTR	2	2
RYR2	6262	broad.mit.edu	37	1	237993832	237993832	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237993832C>T	uc001hyl.1	+	c.14658C>T	c.(14656-14658)ACC>ACT	p.T4886T	RYR2_uc010pyb.1_Intron	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4886					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.186667	67.707038	81.504705	28	122	KEEP	---	---	---	---	capture		Silent	SNP	237993832	237993832	14249	1	C	T	T	T	262	21	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237993872	237993872	+	Missense_Mutation	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237993872A>G	uc001hyl.1	+	c.14698A>G	c.(14698-14700)ACA>GCA	p.T4900A	RYR2_uc010pyb.1_Intron	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4900					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.094972	12.350669	41.820069	17	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237993872	237993872	14249	1	A	G	G	G	78	6	RYR2	4	4
CHRM3	1131	broad.mit.edu	37	1	240070814	240070814	+	Silent	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240070814A>T	uc001hyp.2	+	c.63A>T	c.(61-63)ATA>ATT	p.I21I		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	21	Extracellular (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)									0.212121	59.846602	69.95	28	104	KEEP	---	---	---	---	capture		Silent	SNP	240070814	240070814	3512	1	A	T	T	T	176	14	CHRM3	3	3
FMN2	56776	broad.mit.edu	37	1	240492642	240492642	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240492642C>A	uc010pye.1	+	c.4323C>A	c.(4321-4323)TTC>TTA	p.F1441L	FMN2_uc010pyd.1_Missense_Mutation_p.F1437L|FMN2_uc010pyf.1_Missense_Mutation_p.F83L|FMN2_uc010pyg.1_Missense_Mutation_p.F33L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1437	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|large_intestine(1)|central_nervous_system(1)	9	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)							1289				0.111111	12.655438	35.550825	17	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240492642	240492642	6192	1	C	A	A	A	389	30	FMN2	2	2
RGS7	6000	broad.mit.edu	37	1	240969527	240969527	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240969527G>T	uc001hyv.2	-	c.1182C>A	c.(1180-1182)CCC>CCA	p.P394P	RGS7_uc010pyh.1_Silent_p.P368P|RGS7_uc010pyj.1_Silent_p.P310P|RGS7_uc001hyu.2_Silent_p.P394P|RGS7_uc009xgn.1_Silent_p.P341P|RGS7_uc001hyw.2_Silent_p.P394P|RGS7_uc001hyt.2_Silent_p.P226P	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	394	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|kidney(1)	5		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)											0.202532	34.654819	41.150397	16	63	KEEP	---	---	---	---	capture		Silent	SNP	240969527	240969527	13784	1	G	T	T	T	600	47	RGS7	2	2
PLCH2	9651	broad.mit.edu	37	1	2409932	2409932	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:2409932G>A	uc001aji.1	+	c.142G>A	c.(142-144)GCC>ACC	p.A48T	PLCH2_uc010nyz.1_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	48	PH.|Necessary for plasma membrane localization (By similarity).				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)										0.294118	35.299143	37.237784	15	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2409932	2409932	12464	1	G	A	A	A	598	46	PLCH2	2	2
PLCH2	9651	broad.mit.edu	37	1	2428342	2428342	+	Missense_Mutation	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:2428342A>G	uc001aji.1	+	c.2009A>G	c.(2008-2010)TAC>TGC	p.Y670C	PLCH2_uc010nyz.1_Missense_Mutation_p.Y458C|PLCH2_uc009vle.1_Missense_Mutation_p.Y458C|PLCH2_uc001ajj.1_Missense_Mutation_p.Y458C|PLCH2_uc001ajk.1_Missense_Mutation_p.Y458C|PLCH2_uc001ajl.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	670	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)										0.25	38.337603	41.509484	14	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2428342	2428342	12464	1	A	G	G	G	182	14	PLCH2	4	4
ZNF238	10472	broad.mit.edu	37	1	244217639	244217639	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:244217639A>T	uc001iad.3	+	c.563A>T	c.(562-564)GAG>GTG	p.E188V	ZNF238_uc001iae.2_Missense_Mutation_p.E179V|ZNF238_uc001iaf.1_Missense_Mutation_p.E179V	NM_205768	NP_991331	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 1	179				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368).	skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)											0.166667	34.213433	46.879835	20	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	244217639	244217639	18381	1	A	T	T	T	143	11	ZNF238	3	3
ZNF496	84838	broad.mit.edu	37	1	247492745	247492745	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247492745G>A	uc009xgv.2	-	c.136C>T	c.(136-138)CGC>TGC	p.R46C	ZNF496_uc001ico.2_Missense_Mutation_p.R46C|ZNF496_uc001icp.2_Missense_Mutation_p.R46C|ZNF496_uc010pyv.1_Missense_Mutation_p.R46C	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	46	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)											0.204301	41.376713	48.920945	19	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247492745	247492745	18539	1	G	A	A	A	507	39	ZNF496	1	1
NLRP3	114548	broad.mit.edu	37	1	247607998	247607998	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247607998C>A	uc001icr.2	+	c.2886C>A	c.(2884-2886)TCC>TCA	p.S962S	NLRP3_uc001ics.2_Silent_p.S905S|NLRP3_uc001icu.2_Silent_p.S962S|NLRP3_uc001icw.2_Silent_p.S905S|NLRP3_uc001icv.2_Silent_p.S848S|NLRP3_uc010pyw.1_Silent_p.S940S	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	962	LRR 8.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)							412				0.165138	33.559929	45.098024	18	91	KEEP	---	---	---	---	capture		Silent	SNP	247607998	247607998	10881	1	C	A	A	A	262	21	NLRP3	2	2
OR2G2	81470	broad.mit.edu	37	1	247751945	247751945	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247751945T>A	uc010pyy.1	+	c.284T>A	c.(283-285)ATC>AAC	p.I95N		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	95	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.115207	28.140652	59.774797	25	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247751945	247751945	11404	1	T	A	A	A	650	50	OR2G2	3	3
OR2G3	81469	broad.mit.edu	37	1	247769736	247769736	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247769736C>A	uc010pyz.1	+	c.849C>A	c.(847-849)CCC>CCA	p.P283P		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	283	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.072581	-4.220181	19.08827	9	115	KEEP	---	---	---	---	capture		Silent	SNP	247769736	247769736	11405	1	C	A	A	A	262	21	OR2G3	2	2
OR6F1	343169	broad.mit.edu	37	1	247875180	247875180	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247875180C>A	uc001idj.1	-	c.878G>T	c.(877-879)CGT>CTT	p.R293L		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)											0.21978	157.885516	177.603337	60	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247875180	247875180	11611	1	C	A	A	A	247	19	OR6F1	1	1
OR1C1	26188	broad.mit.edu	37	1	247921086	247921090	+	Missense	Complex_substitution	ANNNC	TNNNG	TNNNG			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247921086A>T	uc010pza.1	-	c.623T>A	c.(622-624)CTC>CAC	p.L208H		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)											0.113208	6.909996	14.735993	6	47	KEEP	---	---	---	---	capture		Missense	Complex_substitution	247921086	247921090	11358	1	ANNNC	TNNNG	TNNNG	T	143	11	OR1C1	5	5
OR14A16	284532	broad.mit.edu	37	1	247978262	247978262	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247978262A>T	uc001idm.1	-	c.770T>A	c.(769-771)CTG>CAG	p.L257Q		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	257	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						Ovarian(112;180 1586 15073 21914 33526)								0.153846	12.325169	16.792318	6	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247978262	247978262	11351	1	A	T	T	T	91	7	OR14A16	3	3
OR11L1	391189	broad.mit.edu	37	1	248004595	248004595	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248004595G>T	uc001idn.1	-	c.604C>A	c.(604-606)CTG>ATG	p.L202M		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.135678	38.779752	64.379055	27	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248004595	248004595	11336	1	G	T	T	T	451	35	OR11L1	2	2
OR2W3	343171	broad.mit.edu	37	1	248059604	248059604	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248059604G>T	uc001idp.1	+	c.716G>T	c.(715-717)GGC>GTC	p.G239V	OR2W3_uc010pzb.1_Missense_Mutation_p.G239V	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	239	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.239382	141.233627	157.292238	62	197	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248059604	248059604	11439	1	G	T	T	T	546	42	OR2W3	2	2
OR2L13	284521	broad.mit.edu	37	1	248263401	248263401	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248263401A>T	uc001ids.2	+	c.724A>T	c.(724-726)ACA>TCA	p.T242S		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(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;0.0132)							85				0.123894	17.669304	33.302375	14	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248263401	248263401	11412	1	A	T	T	T	26	2	OR2L13	3	3
OR2M2	391194	broad.mit.edu	37	1	248343721	248343721	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248343721C>A	uc010pzf.1	+	c.434C>A	c.(433-435)GCT>GAT	p.A145D		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	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;0.0245)											0.253968	153.76999	167.623274	64	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248343721	248343721	11416	1	C	A	A	A	364	28	OR2M2	2	2
OR2T12	127064	broad.mit.edu	37	1	248458403	248458403	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248458403C>G	uc010pzj.1	-	c.478G>C	c.(478-480)GCT>CCT	p.A160P		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	160	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)											0.070796	-4.280529	17.211148	8	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248458403	248458403	11425	1	C	G	G	G	325	25	OR2T12	3	3
OR2T12	127064	broad.mit.edu	37	1	248458652	248458652	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248458652G>T	uc010pzj.1	-	c.229C>A	c.(229-231)CCC>ACC	p.P77T		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	77	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)											0.127273	16.393735	31.282556	14	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248458652	248458652	11425	1	G	T	T	T	546	42	OR2T12	2	2
OR2T12	127064	broad.mit.edu	37	1	248458805	248458805	+	Missense_Mutation	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248458805A>G	uc010pzj.1	-	c.76T>C	c.(76-78)TTC>CTC	p.F26L		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	26	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)											0.241007	205.682156	222.697815	67	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248458805	248458805	11425	1	A	G	G	G	39	3	OR2T12	4	4
TRIM63	84676	broad.mit.edu	37	1	26392931	26392931	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:26392931C>A	uc001bli.1	-	c.160G>T	c.(160-162)GCT>TCT	p.A54S		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	muscle specific ring finger protein 1	54	RING-type.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)										0.193548	12.330423	15.048919	6	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26392931	26392931	17084	1	C	A	A	A	338	26	TRIM63	2	2
C1orf172	126695	broad.mit.edu	37	1	27278544	27278544	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27278544T>A	uc001bni.1	-	c.328A>T	c.(328-330)AGC>TGC	p.S110C		NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	hypothetical protein LOC126695	110	Cys-rich.									large_intestine(1)|ovary(1)	2		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)										0.205882	13.433862	16.142538	7	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27278544	27278544	2080	1	T	A	A	A	715	55	C1orf172	3	3
SLC9A1	6548	broad.mit.edu	37	1	27426944	27426945	+	Nonsense_Mutation	DNP	CC	AT	AT			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27426944_27426945CC>AT	uc001bnm.2	-	c.2301_2302GG>AT	c.(2299-2304)AAGGAG>AAATAG	p.E768*	SLC9A1_uc001bnl.2_Nonsense_Mutation_p.E272*|SLC9A1_uc010ofk.1_Nonsense_Mutation_p.E429*	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	768	Cytoplasmic (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)									0.228916	115.445182	132.237373	57	192	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	27426944	27426945	15206	1	CC	AT	AT	AT	390	30	SLC9A1	5	2
THRAP3	9967	broad.mit.edu	37	1	36758225	36758225	+	Missense_Mutation	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36758225A>G	uc001cae.3	+	c.1945A>G	c.(1945-1947)ACA>GCA	p.T649A	THRAP3_uc001caf.3_Missense_Mutation_p.T649A	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	649					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(5)|lung(1)	6		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				Pancreas(129;785 1795 20938 23278 32581)				199				0.079787	13.063723	80.79449	30	346	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36758225	36758225	16402	1	A	G	G	G	130	10	THRAP3	4	4
SNIP1	79753	broad.mit.edu	37	1	38006165	38006165	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:38006165C>A	uc001cbi.2	-	c.519G>T	c.(517-519)CAG>CAT	p.Q173H	SNIP1_uc010oid.1_Intron	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	173	Arg-rich.|Potential.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			lung(1)	1		Myeloproliferative disorder(586;0.0393)												0.096591	8.232311	36.955397	17	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38006165	38006165	15348	1	C	A	A	A	311	24	SNIP1	2	2
SMAP2	64744	broad.mit.edu	37	1	40881975	40881975	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:40881975C>T	uc001cfj.2	+	c.809C>T	c.(808-810)TCA>TTA	p.S270L	SMAP2_uc010ojh.1_Missense_Mutation_p.S270L|SMAP2_uc001cfk.2_Missense_Mutation_p.S240L|SMAP2_uc010oji.1_Missense_Mutation_p.S187L|SMAP2_uc010ojj.1_Missense_Mutation_p.S86L	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	270					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)											0.17801	62.709775	81.388212	34	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40881975	40881975	15265	1	C	T	T	T	377	29	SMAP2	2	2
LEPRE1	64175	broad.mit.edu	37	1	43232495	43232495	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43232495C>A	uc001chx.3	-	c.148G>T	c.(148-150)GAC>TAC	p.D50Y	LEPRE1_uc001chv.2_Missense_Mutation_p.D50Y|LEPRE1_uc001chw.2_Missense_Mutation_p.D50Y|LEPRE1_uc001chy.3_Missense_Mutation_p.D50Y|LEPRE1_uc001chz.2_Missense_Mutation_p.D50Y|C1orf50_uc001cia.3_5'Flank	NM_001146289	NP_001139761	Q32P28	P3H1_HUMAN	leprecan 1 isoform 2	50	TPR 1.				negative regulation of cell proliferation|oxidation-reduction process	endoplasmic reticulum|proteinaceous extracellular matrix	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			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)									0.116279	4.153078	10.379675	5	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43232495	43232495	9053	1	C	A	A	A	390	30	LEPRE1	2	2
HECTD3	79654	broad.mit.edu	37	1	45470039	45470039	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:45470039A>T	uc009vxk.2	-	c.2153T>A	c.(2152-2154)ATG>AAG	p.M718K	HECTD3_uc001cmx.3_Missense_Mutation_p.M67K|HECTD3_uc001cmy.3_Missense_Mutation_p.M328K|HECTD3_uc010olh.1_Missense_Mutation_p.M434K	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	718	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex|perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)													0.1	12.3281	36.289654	15	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45470039	45470039	7324	1	A	T	T	T	104	8	HECTD3	3	3
OSBPL9	114883	broad.mit.edu	37	1	52226377	52226377	+	Missense_Mutation	SNP	G	C	C	rs61733665		TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:52226377G>C	uc001csu.2	+	c.628G>C	c.(628-630)GTA>CTA	p.V210L	OSBPL9_uc001css.2_Missense_Mutation_p.V205L|OSBPL9_uc001csx.2_Non-coding_Transcript|OSBPL9_uc009vza.2_Missense_Mutation_p.V201L|OSBPL9_uc001cst.2_Missense_Mutation_p.V200L|OSBPL9_uc001csv.2_Missense_Mutation_p.V35L|OSBPL9_uc001csw.2_Missense_Mutation_p.V187L|OSBPL9_uc001csy.2_Missense_Mutation_p.V22L|OSBPL9_uc001csz.2_Missense_Mutation_p.V22L|OSBPL9_uc001cta.2_Missense_Mutation_p.V90L|OSBPL9_uc001ctb.2_5'UTR	NM_148909	NP_683707	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9 isoform f	200					lipid transport		lipid binding			central_nervous_system(1)	1														0.113208	10.512019	18.334632	6	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52226377	52226377	11695	1	G	C	C	C	520	40	OSBPL9	3	3
C1orf163	65260	broad.mit.edu	37	1	53153409	53153409	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:53153409G>A	uc001cui.1	-	c.679C>T	c.(679-681)CCC>TCC	p.P227S		NM_023077	NP_075565	Q96BR5	SELR1_HUMAN	hypothetical protein LOC65260	227							binding				0														0.186813	32.515587	40.886242	17	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53153409	53153409	2078	1	G	A	A	A	572	44	C1orf163	2	2
OMA1	115209	broad.mit.edu	37	1	58996336	58996336	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:58996336C>A	uc001cyy.2	-	c.1077G>T	c.(1075-1077)TGG>TGT	p.W359C	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.W359C	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	OMA1 homolog, zinc metallopeptidase precursor	359	Helical; (Potential).				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			large_intestine(1)	1	all_cancers(7;6.54e-05)													0.169492	17.007626	23.114536	10	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58996336	58996336	11269	1	C	A	A	A	286	22	OMA1	2	2
NPHP4	261734	broad.mit.edu	37	1	6027358	6027358	+	Splice_Site_SNP	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6027358C>T	uc001alq.1	-	c.517_splice	c.e5+1	p.Q173_splice	NPHP4_uc001als.1_Splice_Site_SNP|NPHP4_uc009vlt.1_Splice_Site_SNP|NPHP4_uc001alt.1_Splice_Site_SNP	NM_015102	NP_055917			nephroretinin						actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cilium|membrane|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)										0.333333	10.297717	10.592068	4	8	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	6027358	6027358	10985	1	C	T	T	T	247	19	NPHP4	5	1
DOCK7	85440	broad.mit.edu	37	1	62995099	62995099	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:62995099C>G	uc001daq.2	-	c.3630G>C	c.(3628-3630)AAG>AAC	p.K1210N	DOCK7_uc001dan.2_Missense_Mutation_p.K1071N|DOCK7_uc001dao.2_Missense_Mutation_p.K1071N|DOCK7_uc001dap.2_Missense_Mutation_p.K1179N|DOCK7_uc001dam.2_Missense_Mutation_p.K390N|DOCK7_uc010oov.1_Missense_Mutation_p.K38N	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1210					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2														0.186047	20.172644	24.145768	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62995099	62995099	4876	1	C	G	G	G	415	32	DOCK7	3	3
HES3	390992	broad.mit.edu	37	1	6305524	6305524	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6305524G>T	uc009vly.1	+	c.518G>T	c.(517-519)CGC>CTC	p.R173L		NM_001024598	NP_001019769	Q5TGS1	HES3_HUMAN	hairy and enhancer of split 3	173					transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity				0	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)										0.1875	6.617318	8.079004	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6305524	6305524	7350	1	G	T	T	T	494	38	HES3	1	1
LEPR	3953	broad.mit.edu	37	1	66088664	66088664	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:66088664G>T	uc001dci.2	+	c.2673G>T	c.(2671-2673)AAG>AAT	p.K891N	LEPR_uc001dcg.2_Missense_Mutation_p.K891N|LEPR_uc001dch.2_Missense_Mutation_p.K891N|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.K891N|LEPR_uc001dck.2_Missense_Mutation_p.K891N	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	891	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity				0				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)										0.166667	7.683557	10.213	4	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66088664	66088664	9052	1	G	T	T	T	451	35	LEPR	2	2
TCTEX1D1	200132	broad.mit.edu	37	1	67243037	67243037	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67243037G>T	uc001dcv.2	+	c.440G>T	c.(439-441)AGA>ATA	p.R147I	TCTEX1D1_uc009wau.2_Non-coding_Transcript|TCTEX1D1_uc009wav.2_Non-coding_Transcript	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	147											0														0.12381	13.092091	27.637277	13	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67243037	67243037	16245	1	G	T	T	T	429	33	TCTEX1D1	2	2
LRRC7	57554	broad.mit.edu	37	1	70504169	70504169	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70504169A>T	uc001dep.2	+	c.2548A>T	c.(2548-2550)AGT>TGT	p.S850C	LRRC7_uc009wbg.2_Missense_Mutation_p.S134C|LRRC7_uc001deq.2_Missense_Mutation_p.S91C	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	850						centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.25	56.685142	62.409949	25	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70504169	70504169	9396	1	A	T	T	T	195	15	LRRC7	3	3
LRRC7	57554	broad.mit.edu	37	1	70541828	70541828	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70541828G>A	uc001dep.2	+	c.4185G>A	c.(4183-4185)CCG>CCA	p.P1395P	LRRC7_uc009wbg.2_Silent_p.P679P|LRRC7_uc001deq.2_Silent_p.P589P	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1395						centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.103448	3.512343	12.593686	6	52	KEEP	---	---	---	---	capture		Silent	SNP	70541828	70541828	9396	1	G	A	A	A	509	40	LRRC7	1	1
C1orf173	127254	broad.mit.edu	37	1	75086428	75086428	+	Silent	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75086428T>C	uc001dgg.2	-	c.990A>G	c.(988-990)CTA>CTG	p.L330L	C1orf173_uc001dgi.3_Silent_p.L124L	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	330										ovary(3)|central_nervous_system(1)	4														0.150943	18.467785	24.651129	8	45	KEEP	---	---	---	---	capture		Silent	SNP	75086428	75086428	2081	1	T	C	C	C	730	57	C1orf173	4	4
SLC44A5	204962	broad.mit.edu	37	1	75699758	75699758	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75699758T>A	uc010oqz.1	-	c.883A>T	c.(883-885)AGT>TGT	p.S295C	SLC44A5_uc001dgt.2_Missense_Mutation_p.S256C|SLC44A5_uc001dgs.2_Missense_Mutation_p.S214C|SLC44A5_uc001dgr.2_Missense_Mutation_p.S214C|SLC44A5_uc001dgu.2_Missense_Mutation_p.S256C|SLC44A5_uc010ora.1_Missense_Mutation_p.S250C|SLC44A5_uc010orb.1_Missense_Mutation_p.S126C	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform B	256	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)	2														0.1	2.879028	9.264592	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75699758	75699758	15136	1	T	A	A	A	689	53	SLC44A5	3	3
ZZZ3	26009	broad.mit.edu	37	1	78098394	78098394	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78098394C>A	uc001dhq.2	-	c.646G>T	c.(646-648)GAT>TAT	p.D216Y	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.D216Y|ZZZ3_uc001dhp.2_Missense_Mutation_p.D216Y	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5														0.114943	9.380892	22.099034	10	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78098394	78098394	18862	1	C	A	A	A	377	29	ZZZ3	2	2
COL24A1	255631	broad.mit.edu	37	1	86246909	86246909	+	Silent	SNP	A	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86246909A>C	uc001dlj.2	-	c.4332T>G	c.(4330-4332)GGT>GGG	p.G1444G	COL24A1_uc001dli.2_Silent_p.G580G|COL24A1_uc010osd.1_Silent_p.G744G|COL24A1_uc001dlk.2_Non-coding_Transcript|COL24A1_uc010ose.1_Non-coding_Transcript|COL24A1_uc010osf.1_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1444	Collagen-like 17.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)	4				all cancers(265;0.0627)|Epithelial(280;0.0689)										0.196721	33.169881	38.392454	12	49	KEEP	---	---	---	---	capture		Silent	SNP	86246909	86246909	3821	1	A	C	C	C	171	14	COL24A1	4	4
COL24A1	255631	broad.mit.edu	37	1	86497581	86497581	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86497581G>T	uc001dlj.2	-	c.2029C>A	c.(2029-2031)CCG>ACG	p.P677T	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_Non-coding_Transcript|COL24A1_uc010ose.1_Non-coding_Transcript|COL24A1_uc010osf.1_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	677	Collagen-like 3.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)	4				all cancers(265;0.0627)|Epithelial(280;0.0689)										0.263158	24.630501	26.559894	10	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86497581	86497581	3821	1	G	T	T	T	533	41	COL24A1	2	2
LRRC8D	55144	broad.mit.edu	37	1	90399621	90399621	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:90399621G>T	uc001dnm.2	+	c.994G>T	c.(994-996)GCA>TCA	p.A332S	LRRC8D_uc001dnn.2_Missense_Mutation_p.A332S	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	332						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)										0.108696	18.127923	39.061028	15	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90399621	90399621	9400	1	G	T	T	T	494	38	LRRC8D	1	1
CNN3	1266	broad.mit.edu	37	1	95363333	95363333	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:95363333C>G	uc010otw.1	-	c.955G>C	c.(955-957)GAT>CAT	p.D319H	CNN3_uc010otv.1_Missense_Mutation_p.D278H|CNN3_uc001dqz.3_Missense_Mutation_p.D319H|CNN3_uc010otx.1_Missense_Mutation_p.D273H	NM_001839	NP_001830	Q15417	CNN3_HUMAN	calponin 3	319	Asp/Glu-rich (acidic).				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)										0.157407	40.800711	52.893245	17	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95363333	95363333	3749	1	C	G	G	G	416	32	CNN3	3	3
PAX1	5075	broad.mit.edu	37	20	21687445	21687445	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:21687445G>T	uc002wsj.2	+	c.656G>T	c.(655-657)CGC>CTC	p.R219L	PAX1_uc010zsl.1_Missense_Mutation_p.R219L|PAX1_uc010zsm.1_Missense_Mutation_p.R195L	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	219	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			kidney(1)	1														0.09375	4.022448	19.935036	9	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21687445	21687445	11898	20	G	T	T	T	494	38	PAX1	1	1
CST1	1469	broad.mit.edu	37	20	23731392	23731392	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23731392C>T	uc002wtp.2	-	c.112G>A	c.(112-114)GAC>AAC	p.D38N		NM_001898	NP_001889	P01037	CYTN_HUMAN	cystatin SN precursor	38						extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Lung NSC(19;0.0676)|all_lung(19;0.148)													0.375	110.173375	111.491451	36	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23731392	23731392	4111	20	C	T	T	T	416	32	CST1	2	2
FASTKD5	60493	broad.mit.edu	37	20	3128165	3128165	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3128165C>T	uc002whz.2	-	c.1552G>A	c.(1552-1554)GAT>AAT	p.D518N	UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	518					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0														0.173913	24.256712	31.182563	12	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3128165	3128165	5924	20	C	T	T	T	403	31	FASTKD5	1	1
C20orf185	359710	broad.mit.edu	37	20	31647780	31647780	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31647780C>T	uc002wym.1	+	c.470C>T	c.(469-471)CCC>CTC	p.P157L		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	157	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4														0.487805	122.076424	122.087492	40	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31647780	31647780	2175	20	C	T	T	T	286	22	C20orf185	2	2
CEP250	11190	broad.mit.edu	37	20	34090885	34090885	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34090885A>T	uc002xcm.2	+	c.4688A>T	c.(4687-4689)GAG>GTG	p.E1563V	CEP250_uc010zve.1_Missense_Mutation_p.E931V	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	1563	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)											0.20155	55.773955	66.456064	26	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34090885	34090885	3385	20	A	T	T	T	143	11	CEP250	3	3
KIAA1755	85449	broad.mit.edu	37	20	36854137	36854137	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36854137G>T	uc002xhy.1	-	c.2099C>A	c.(2098-2100)CCC>CAC	p.P700H	KIAA1755_uc002xhx.1_5'Flank|KIAA1755_uc002xhz.1_Missense_Mutation_p.P700H	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	700										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)												0.341463	39.035892	39.947309	14	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36854137	36854137	8568	20	G	T	T	T	559	43	KIAA1755	2	2
CHD6	84181	broad.mit.edu	37	20	40080657	40080657	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40080657C>A	uc002xka.1	-	c.3332G>T	c.(3331-3333)CGG>CTG	p.R1111L		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1111					chromatin assembly or disassembly|chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|lung(2)|central_nervous_system(1)|skin(1)	10		Myeloproliferative disorder(115;0.00425)												0.358491	58.112191	59.046	19	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40080657	40080657	3463	20	C	A	A	A	299	23	CHD6	1	1
RIMS4	140730	broad.mit.edu	37	20	43400047	43400047	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:43400047G>T	uc010ggu.2	-	c.108C>A	c.(106-108)AGC>AGA	p.S36R	RIMS4_uc002xms.2_Missense_Mutation_p.S35R	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	35					exocytosis|neurotransmitter transport	cell junction|synapse				ovary(4)|central_nervous_system(1)	5		Myeloproliferative disorder(115;0.0122)												0.328671	128.089742	131.804508	47	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43400047	43400047	13847	20	G	T	T	T	542	42	RIMS4	2	2
SLC12A5	57468	broad.mit.edu	37	20	44675012	44675012	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44675012C>T	uc010zxl.1	+	c.1793C>T	c.(1792-1794)GCC>GTC	p.A598V	SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.A575V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	598	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.355263	75.098837	76.503748	27	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44675012	44675012	14881	20	C	T	T	T	338	26	SLC12A5	2	2
EDN3	1908	broad.mit.edu	37	20	57899434	57899434	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57899434C>A	uc002yap.2	+	c.637C>A	c.(637-639)CCA>ACA	p.P213T	EDN3_uc002yao.1_3'UTR|EDN3_uc002yaq.2_Missense_Mutation_p.P213T|EDN3_uc002yar.2_3'UTR|EDN3_uc002yas.2_Missense_Mutation_p.P199T	NM_000114	NP_000105	P14138	EDN3_HUMAN	endothelin 3 isoform 1 preproprotein	213					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity				0	all_lung(29;0.0115)													0.102804	19.654947	70.105981	33	288	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57899434	57899434	5105	20	C	A	A	A	390	30	EDN3	2	2
CHGB	1114	broad.mit.edu	37	20	5903859	5903859	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:5903859C>A	uc002wmg.2	+	c.1069C>A	c.(1069-1071)CTG>ATG	p.L357M	CHGB_uc010zqz.1_Missense_Mutation_p.L40M	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	357						extracellular space	hormone activity			breast(3)|ovary(1)	4														0.303965	185.579537	193.369555	69	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5903859	5903859	3473	20	C	A	A	A	311	24	CHGB	2	2
CDH4	1002	broad.mit.edu	37	20	60348120	60348120	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60348120T>A	uc002ybn.1	+	c.458T>A	c.(457-459)CTG>CAG	p.L153Q	CDH4_uc002ybp.1_Missense_Mutation_p.L79Q	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	153					adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)	5			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)											0.098592	5.773378	17.21532	7	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60348120	60348120	3241	20	T	A	A	A	715	55	CDH4	3	3
NTSR1	4923	broad.mit.edu	37	20	61340789	61340789	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61340789G>T	uc002ydf.2	+	c.230G>T	c.(229-231)GGC>GTC	p.G77V		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	77	Helical; Name=1; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled				0	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GBM(37;400 780 6403 19663 35669)				297				0.152778	18.899206	27.188453	11	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61340789	61340789	11115	20	G	T	T	T	546	42	NTSR1	2	2
KCNQ2	3785	broad.mit.edu	37	20	62046273	62046273	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62046273G>A	uc002yey.1	-	c.1508C>T	c.(1507-1509)TCA>TTA	p.S503L	KCNQ2_uc002yez.1_Missense_Mutation_p.S473L|KCNQ2_uc002yfa.1_Missense_Mutation_p.S485L|KCNQ2_uc002yfb.1_Missense_Mutation_p.S475L	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	503	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)									0.076087	-10.260378	40.610661	21	255	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62046273	62046273	8388	20	G	A	A	A	585	45	KCNQ2	2	2
KCNQ2	3785	broad.mit.edu	37	20	62065167	62065167	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62065167C>T	uc002yey.1	-	c.1113G>A	c.(1111-1113)ATG>ATA	p.M371I	KCNQ2_uc002yez.1_Missense_Mutation_p.M371I|KCNQ2_uc002yfa.1_Missense_Mutation_p.M371I|KCNQ2_uc002yfb.1_Missense_Mutation_p.M371I|KCNQ2_uc011aax.1_Missense_Mutation_p.M371I|KCNQ2_uc002yfc.1_Missense_Mutation_p.M371I	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	371	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)									0.310345	131.970189	137.554574	54	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62065167	62065167	8388	20	C	T	T	T	221	17	KCNQ2	2	2
C20orf135	140701	broad.mit.edu	37	20	62493477	62493478	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62493477_62493478CC>AA	uc002ygx.1	+	c.584_585CC>AA	c.(583-585)GCC>GAA	p.A195E		NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	hypothetical protein LOC140701	195							hydrolase activity				0	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)													0.125	5.522002	9.880556	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	62493477	62493478	2165	20	CC	AA	AA	AA	338	26	C20orf135	2	2
TPTE	7179	broad.mit.edu	37	21	10933880	10933880	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:10933880G>T	uc002yip.1	-	c.999C>A	c.(997-999)ATC>ATA	p.I333I	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.I315I|TPTE_uc002yir.1_Silent_p.I295I|TPTE_uc010gkv.1_Silent_p.I195I	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	333	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)										0.120823	65.341592	120.17964	47	342	KEEP	---	---	---	---	capture		Silent	SNP	10933880	10933880	16974	21	G	T	T	T	473	37	TPTE	1	1
TPTE	7179	broad.mit.edu	37	21	10951340	10951340	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:10951340C>A	uc002yip.1	-	c.372G>T	c.(370-372)TTG>TTT	p.L124F	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.L106F|TPTE_uc002yir.1_Missense_Mutation_p.L86F|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	124					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)										0.275862	125.812282	133.691085	48	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10951340	10951340	16974	21	C	A	A	A	272	21	TPTE	2	2
TPTE	7179	broad.mit.edu	37	21	10951375	10951375	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:10951375G>A	uc002yip.1	-	c.337C>T	c.(337-339)CTA>TTA	p.L113L	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.L95L|TPTE_uc002yir.1_Silent_p.L75L|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	113					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)										0.29	172.165851	180.071074	58	142	KEEP	---	---	---	---	capture		Silent	SNP	10951375	10951375	16974	21	G	A	A	A	451	35	TPTE	2	2
APP	351	broad.mit.edu	37	21	27462312	27462312	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:27462312C>A	uc002ylz.2	-	c.302G>T	c.(301-303)GGC>GTC	p.G101V	APP_uc010glk.2_Missense_Mutation_p.G96V|APP_uc002yma.2_Missense_Mutation_p.G101V|APP_uc011ach.1_Missense_Mutation_p.G45V|APP_uc002ymb.2_Missense_Mutation_p.G101V|APP_uc010glj.2_Missense_Mutation_p.G45V|APP_uc011aci.1_Missense_Mutation_p.G66V|APP_uc011acj.1_Missense_Mutation_p.G101V	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	101	Extracellular (Potential).|Heparin-binding.			KRGR->NQGG: Reduced heparin-binding.	adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)												0.122642	13.803021	28.580468	13	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27462312	27462312	826	21	C	A	A	A	338	26	APP	2	2
CLDN17	26285	broad.mit.edu	37	21	31538801	31538801	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31538801C>G	uc011acv.1	-	c.135G>C	c.(133-135)AGG>AGC	p.R45S		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	45	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2														0.101449	9.478365	20.405274	7	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31538801	31538801	3614	21	C	G	G	G	337	26	CLDN17	3	3
CLDN8	9073	broad.mit.edu	37	21	31588141	31588141	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31588141A>T	uc002ynu.1	-	c.103T>A	c.(103-105)TTC>ATC	p.F35I		NM_199328	NP_955360	P56748	CLD8_HUMAN	claudin 8	35	Extracellular (Potential).				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0														0.136986	13.498716	22.812881	10	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31588141	31588141	3628	21	A	T	T	T	39	3	CLDN8	3	3
KRTAP24-1	643803	broad.mit.edu	37	21	31654874	31654874	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31654874C>A	uc002ynv.2	-	c.377G>T	c.(376-378)GGG>GTG	p.G126V		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	126						keratin filament	structural molecule activity				0														0.265487	71.808167	77.419272	30	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31654874	31654874	8863	21	C	A	A	A	286	22	KRTAP24-1	2	2
KRTAP19-7	337974	broad.mit.edu	37	21	31933529	31933529	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31933529C>A	uc011adb.1	-	c.80G>T	c.(79-81)TGT>TTT	p.C27F		NM_181614	NP_853645	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	27						intermediate filament					0														0.150943	14.699743	20.858475	8	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31933529	31933529	8849	21	C	A	A	A	221	17	KRTAP19-7	2	2
GART	2618	broad.mit.edu	37	21	34907023	34907023	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:34907023C>A	uc002yrx.2	-	c.278G>T	c.(277-279)TGC>TTC	p.C93F	GART_uc002yrz.2_Missense_Mutation_p.C93F|GART_uc010gmd.2_5'UTR|GART_uc002yry.2_Missense_Mutation_p.C93F|GART_uc002ysa.2_Missense_Mutation_p.C93F	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	93					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)									0.070588	-2.722865	13.447927	6	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34907023	34907023	6507	21	C	A	A	A	325	25	GART	2	2
KCNE1	3753	broad.mit.edu	37	21	35821667	35821667	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:35821667T>C	uc010gmp.2	-	c.266A>G	c.(265-267)GAG>GGG	p.E89G	KCNE1_uc002ytz.2_Missense_Mutation_p.E89G|KCNE1_uc010gmq.2_Missense_Mutation_p.E89G|KCNE1_uc010gmr.2_Missense_Mutation_p.E89G|KCNE1_uc010gms.2_Missense_Mutation_p.E89G|KCNE1_uc002yua.2_Non-coding_Transcript	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related	89	Cytoplasmic (Potential).				blood circulation|membrane depolarization|muscle contraction|regulation of heart contraction|sensory perception of sound	lysosome|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(2)	2					Indapamide(DB00808)									0.110497	31.778509	58.927784	20	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35821667	35821667	8326	21	T	C	C	C	702	54	KCNE1	4	4
DSCAM	1826	broad.mit.edu	37	21	41684194	41684194	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:41684194T>C	uc002yyq.1	-	c.1876A>G	c.(1876-1878)ATC>GTC	p.I626V	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	626	Extracellular (Potential).|Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)	6		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				Melanoma(134;970 1778 1785 21664 32388)								0.085714	2.097519	14.274161	6	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41684194	41684194	4952	21	T	C	C	C	663	51	DSCAM	4	4
AIRE	326	broad.mit.edu	37	21	45709652	45709652	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45709652G>T	uc002zei.2	+	c.765G>T	c.(763-765)CTG>CTT	p.L255L	AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank	NM_000383	NP_000374	O43918	AIRE_HUMAN	autoimmune regulator isoform 1	255	SAND.				transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|promoter binding|transcription activator activity|translation regulator activity|zinc ion binding				0				Colorectal(79;0.0806)										0.186441	18.980627	24.430555	11	48	KEEP	---	---	---	---	capture		Silent	SNP	45709652	45709652	440	21	G	T	T	T	600	47	AIRE	2	2
POTEH	23784	broad.mit.edu	37	22	16287380	16287380	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:16287380C>T	uc010gqp.2	-	c.506G>A	c.(505-507)AGG>AAG	p.R169K	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_Missense_Mutation_p.R4K	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	169											0														0.21365	179.21295	204.737132	72	265	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16287380	16287380	12697	22	C	T	T	T	312	24	POTEH	2	2
GAB4	128954	broad.mit.edu	37	22	17468885	17468885	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17468885C>T	uc002zlw.2	-	c.651G>A	c.(649-651)TCG>TCA	p.S217S	GAB4_uc010gqs.1_Silent_p.S200S	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	217										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)												0.294118	22.960101	24.236733	10	24	KEEP	---	---	---	---	capture		Silent	SNP	17468885	17468885	6402	22	C	T	T	T	340	27	GAB4	1	1
IL17RA	23765	broad.mit.edu	37	22	17581332	17581332	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17581332G>T	uc002zly.2	+	c.511G>T	c.(511-513)GGG>TGG	p.G171W	IL17RA_uc010gqt.2_Missense_Mutation_p.G171W	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	171	Extracellular (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)										0.119403	36.807082	74.919625	32	236	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17581332	17581332	7940	22	G	T	T	T	611	47	IL17RA	2	2
CECR2	27443	broad.mit.edu	37	22	17983998	17983998	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17983998C>G	uc010gqw.1	+	c.694C>G	c.(694-696)CTC>GTC	p.L232V	CECR2_uc010gqv.1_Missense_Mutation_p.L111V|CECR2_uc002zml.2_Missense_Mutation_p.L111V|CECR2_uc002zmm.1_Missense_Mutation_p.L111V	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	274					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)										0.072464	-0.163953	12.798931	5	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17983998	17983998	3339	22	C	G	G	G	364	28	CECR2	3	3
SEPT5	5413	broad.mit.edu	37	22	19708337	19708337	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:19708337C>T	uc002zpv.1	+	c.662C>T	c.(661-663)CCT>CTT	p.P221L	SEPT5_uc002zpw.1_Non-coding_Transcript|SEPT5_uc002zpx.1_Non-coding_Transcript|SEPT5_uc002zpy.1_5'UTR|SEPT5_uc002zpz.1_5'Flank	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	septin 5	221					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Colorectal(54;0.0993)									70				0.44186	306.857715	307.496621	95	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19708337	19708337	14553	22	C	T	T	T	312	24	SEPT5	2	2
IGLL1	3543	broad.mit.edu	37	22	23915735	23915735	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:23915735C>A	uc002zxd.2	-	c.360G>T	c.(358-360)CCG>CCT	p.P120P	IGLL1_uc002zxe.2_Missense_Mutation_p.A82S	NM_020070	NP_064455	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1 isoform	120	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane					0														0.156028	42.171091	58.088905	22	119	KEEP	---	---	---	---	capture		Silent	SNP	23915735	23915735	7894	22	C	A	A	A	351	27	IGLL1	1	1
SGSM1	129049	broad.mit.edu	37	22	25294099	25294099	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:25294099C>T	uc003abg.2	+	c.2348C>T	c.(2347-2349)TCA>TTA	p.S783L	SGSM1_uc003abh.2_Missense_Mutation_p.S722L|SGSM1_uc010guu.1_Missense_Mutation_p.S728L|SGSM1_uc003abj.2_Missense_Mutation_p.S667L|SGSM1_uc003abi.1_Missense_Mutation_p.S703L	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	783	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5														0.058824	-15.635744	22.493842	11	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25294099	25294099	14713	22	C	T	T	T	377	29	SGSM1	2	2
ADRBK2	157	broad.mit.edu	37	22	26074883	26074883	+	Splice_Site_SNP	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26074883G>C	uc003abx.3	+	c.747_splice	c.e9+1	p.G249_splice	ADRBK2_uc010gux.2_Splice_Site_SNP_p.G249_splice|ADRBK2_uc003abw.2_Splice_Site_SNP_p.G136_splice|ADRBK2_uc003aby.3_Splice_Site_SNP	NM_005160	NP_005151			beta-adrenergic receptor kinase 2						protein phosphorylation		ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)	5					Adenosine triphosphate(DB00171)					345				0.071429	1.21565	14.463943	5	65	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	26074883	26074883	345	22	G	C	C	C	468	36	ADRBK2	5	3
MYO18B	84700	broad.mit.edu	37	22	26400821	26400821	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26400821G>T	uc003abz.1	+	c.6470G>T	c.(6469-6471)AGG>ATG	p.R2157M	MYO18B_uc003aca.1_Missense_Mutation_p.R2038M|MYO18B_uc010guy.1_Missense_Mutation_p.R2039M|MYO18B_uc010guz.1_Missense_Mutation_p.R2037M|MYO18B_uc011aka.1_Missense_Mutation_p.R1311M|MYO18B_uc011akb.1_Missense_Mutation_p.R1670M|MYO18B_uc010gva.1_Missense_Mutation_p.R140M	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2157						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12										968				0.257576	42.1414	45.658954	17	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26400821	26400821	10461	22	G	T	T	T	455	35	MYO18B	2	2
TCN2	6948	broad.mit.edu	37	22	31018994	31018994	+	Silent	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:31018994C>G	uc003aip.1	+	c.1146C>G	c.(1144-1146)ACC>ACG	p.T382T	TCN2_uc003aiq.1_Silent_p.T378T|TCN2_uc003air.1_Silent_p.T355T	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	382					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)									0.087719	2.452882	22.071397	10	104	KEEP	---	---	---	---	capture		Silent	SNP	31018994	31018994	16233	22	C	G	G	G	301	24	TCN2	3	3
SLC5A4	6527	broad.mit.edu	37	22	32614536	32614536	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:32614536C>A	uc003ami.2	-	c.1945G>T	c.(1945-1947)GCT>TCT	p.A649S		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	649	Helical; (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0														0.205128	17.875996	21.023378	8	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32614536	32614536	15164	22	C	A	A	A	338	26	SLC5A4	2	2
BPIL2	254240	broad.mit.edu	37	22	32810311	32810311	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:32810311C>A	uc003amn.2	-	c.1503G>T	c.(1501-1503)TGG>TGT	p.W501C	C22orf28_uc003amm.2_5'Flank|C22orf28_uc011ama.1_5'Flank|BPIL2_uc010gwo.2_Missense_Mutation_p.W258C|BPIL2_uc011amb.1_Missense_Mutation_p.W225C	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	bactericidal/permeability-increasing	501						extracellular region	lipopolysaccharide binding|phospholipid binding			ovary(1)	1														0.096257	4.38838	35.014944	18	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32810311	32810311	1520	22	C	A	A	A	390	30	BPIL2	2	2
RBM9	23543	broad.mit.edu	37	22	36206048	36206048	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:36206048T>C	uc003aon.3	-	c.241A>G	c.(241-243)AAC>GAC	p.N81D	RBM9_uc003aog.3_5'UTR|RBM9_uc003aol.3_Missense_Mutation_p.N11D|RBM9_uc003aoj.3_Missense_Mutation_p.N11D|RBM9_uc003aok.3_Missense_Mutation_p.N11D|RBM9_uc003aoh.3_Missense_Mutation_p.N11D|RBM9_uc003aom.3_Missense_Mutation_p.N11D|RBM9_uc010gwu.2_5'UTR|RBM9_uc003aoo.3_Missense_Mutation_p.N81D|RBM9_uc003aop.3_Missense_Mutation_p.N11D	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	RNA binding motif protein 9 isoform 5	21					estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding				0														0.192771	45.458917	52.766456	16	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36206048	36206048	13609	22	T	C	C	C	793	61	RBM9	4	4
ELFN2	114794	broad.mit.edu	37	22	37770562	37770562	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:37770562G>T	uc003asq.3	-	c.1013C>A	c.(1012-1014)ACC>AAC	p.T338N		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	338	Fibronectin type-III.|Extracellular (Potential).					cell surface|integral to membrane				ovary(1)	1	Melanoma(58;0.0574)													0.114441	41.296017	95.074996	42	325	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37770562	37770562	5250	22	G	T	T	T	572	44	ELFN2	2	2
CSNK1E	1454	broad.mit.edu	37	22	38690126	38690126	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:38690126G>A	uc003avj.2	-	c.1207C>T	c.(1207-1209)CCA>TCA	p.P403S	CSNK1E_uc003avk.2_Missense_Mutation_p.P403S|CSNK1E_uc003avl.1_Non-coding_Transcript|CSNK1E_uc003avm.1_Missense_Mutation_p.P403S|CSNK1E_uc003avn.1_Missense_Mutation_p.P87S|CSNK1E_uc003avo.2_Missense_Mutation_p.P403S	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	403					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein phosphorylation|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)				848				0.147059	9.352333	13.421096	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38690126	38690126	4094	22	G	A	A	A	559	43	CSNK1E	2	2
SGSM3	27352	broad.mit.edu	37	22	40801211	40801211	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:40801211G>T	uc010gyd.1	+	c.541G>T	c.(541-543)GTG>TTG	p.V181L	SGSM3_uc010gyc.1_Missense_Mutation_p.V181L|SGSM3_uc011aos.1_Missense_Mutation_p.V114L|SGSM3_uc003ayu.1_Missense_Mutation_p.V181L|SGSM3_uc011aot.1_Missense_Mutation_p.V118L	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	181	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2														0.093023	1.550106	8.642107	4	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40801211	40801211	14715	22	G	T	T	T	572	44	SGSM3	2	2
SAMM50	25813	broad.mit.edu	37	22	44368118	44368118	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:44368118G>T	uc003bej.2	+	c.325G>T	c.(325-327)GAT>TAT	p.D109Y	SAMM50_uc011aqd.1_Intron|SAMM50_uc003bek.2_5'Flank	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50	109					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex					0		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)												0.102041	6.772545	22.252451	10	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44368118	44368118	14309	22	G	T	T	T	585	45	SAMM50	2	2
PHF21B	112885	broad.mit.edu	37	22	45309812	45309812	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:45309812G>A	uc003bfn.2	-	c.721C>T	c.(721-723)CAG>TAG	p.Q241*	PHF21B_uc003bfm.2_Nonsense_Mutation_p.Q37*|PHF21B_uc011aqk.1_Nonsense_Mutation_p.Q187*|PHF21B_uc011aql.1_Nonsense_Mutation_p.Q199*|PHF21B_uc011aqm.1_Nonsense_Mutation_p.Q187*	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	PHD finger protein 21B isoform 1	241							zinc ion binding			ovary(2)|skin(1)	3		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)										0.152542	27.064351	40.709458	18	100	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	45309812	45309812	12257	22	G	A	A	A	598	46	PHF21B	5	2
TTLL8	164714	broad.mit.edu	37	22	50479677	50479677	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50479677C>T	uc011ark.1	-	c.860G>A	c.(859-861)TGC>TAC	p.C287Y		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)										0.111628	18.341399	50.421803	24	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50479677	50479677	17288	22	C	T	T	T	325	25	TTLL8	2	2
GRHL1	29841	broad.mit.edu	37	2	10101410	10101410	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:10101410C>A	uc002raa.2	+	c.514C>A	c.(514-516)CCA>ACA	p.P172T	GRHL1_uc002rab.2_Non-coding_Transcript|GRHL1_uc002rad.2_Silent_p.P8P|GRHL1_uc010yjb.1_Missense_Mutation_p.P21T	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	172					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)										0.082353	-2.048315	28.102609	14	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10101410	10101410	7041	2	C	A	A	A	286	22	GRHL1	2	2
IL1RL1	9173	broad.mit.edu	37	2	102954739	102954739	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:102954739C>G	uc002tbu.1	+	c.15C>G	c.(13-15)ATC>ATG	p.I5M	IL1RL1_uc010ywa.1_Intron|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.I5M	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	5					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			ovary(1)|central_nervous_system(1)|skin(1)	3														0.19403	34.533212	40.387251	13	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102954739	102954739	7964	2	C	G	G	G	408	32	IL1RL1	3	3
IL18R1	8809	broad.mit.edu	37	2	103010927	103010927	+	Splice_Site_SNP	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103010927A>G	uc002tbw.3	+	c.1112_splice	c.e10-2	p.D371_splice	IL18R1_uc010ywc.1_Splice_Site_SNP_p.D370_splice|IL18R1_uc010ywd.1_Splice_Site_SNP_p.D215_splice|IL18R1_uc010fiy.2_Splice_Site_SNP_p.D371_splice	NM_003855	NP_003846			interleukin 18 receptor 1 precursor						innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3														0.075758	0.736846	12.914484	5	61	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	103010927	103010927	7948	2	A	G	G	G	195	15	IL18R1	5	4
ST6GAL2	84620	broad.mit.edu	37	2	107459730	107459730	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:107459730C>A	uc002tdq.2	-	c.704G>T	c.(703-705)GGG>GTG	p.G235V	ST6GAL2_uc002tdr.2_Missense_Mutation_p.G235V|ST6GAL2_uc002tds.3_Missense_Mutation_p.G235V	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	235	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(3)	9														0.44	30.421358	30.49968	11	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107459730	107459730	15740	2	C	A	A	A	286	22	ST6GAL2	2	2
ANKRD57	65124	broad.mit.edu	37	2	110373178	110373178	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:110373178G>T	uc002tfb.2	+	c.1112G>T	c.(1111-1113)AGG>ATG	p.R371M	SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN	ankyrin repeat domain 57	371											0														0.128079	32.999998	60.377265	26	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110373178	110373178	691	2	G	T	T	T	455	35	ANKRD57	2	2
TMEM87B	84910	broad.mit.edu	37	2	112849310	112849310	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:112849310G>T	uc002thm.2	+	c.1054G>T	c.(1054-1056)GTT>TTT	p.V352F		NM_032824	NP_116213	Q96K49	TM87B_HUMAN	transmembrane protein 87B precursor	352	Helical; (Potential).					integral to membrane					0														0.177419	23.78408	29.862791	11	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112849310	112849310	16750	2	G	T	T	T	624	48	TMEM87B	2	2
MARCO	8685	broad.mit.edu	37	2	119699919	119699919	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:119699919G>T	uc002tln.1	+	c.43G>T	c.(43-45)GAG>TAG	p.E15*	MARCO_uc010yyf.1_5'UTR	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	15	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4						GBM(8;18 374 7467 11269 32796)								0.121212	14.70232	33.280065	16	116	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	119699919	119699919	9694	2	G	T	T	T	585	45	MARCO	5	2
CNTNAP5	129684	broad.mit.edu	37	2	125367452	125367452	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125367452G>T	uc010flu.2	+	c.1831G>T	c.(1831-1833)GGC>TGC	p.G611C	CNTNAP5_uc002tno.2_Missense_Mutation_p.G610C	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	610	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.101124	6.605046	20.739	9	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125367452	125367452	3788	2	G	T	T	T	611	47	CNTNAP5	2	2
POTEF	728378	broad.mit.edu	37	2	130832810	130832810	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:130832810C>A	uc010fmh.2	-	c.2235G>T	c.(2233-2235)GGG>GGT	p.G745G		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	745	Actin-like.					cell cortex	ATP binding			ovary(2)|skin(1)	3														0.152778	32.714428	49.294427	22	122	KEEP	---	---	---	---	capture		Silent	SNP	130832810	130832810	12695	2	C	A	A	A	275	22	POTEF	2	2
LRP1B	53353	broad.mit.edu	37	2	141004668	141004668	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141004668A>T	uc002tvj.1	-	c.13311T>A	c.(13309-13311)GAT>GAA	p.D4437E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4437	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		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)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.12	3.508042	7.049142	3	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141004668	141004668	9328	2	A	T	T	T	154	12	LRP1B	3	3
LRP1B	53353	broad.mit.edu	37	2	141135813	141135813	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141135813C>G	uc002tvj.1	-	c.10574G>C	c.(10573-10575)GGG>GCG	p.G3525A		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3525	Extracellular (Potential).|LDL-receptor class A 26.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		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)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.193548	14.530614	17.248456	6	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141135813	141135813	9328	2	C	G	G	G	286	22	LRP1B	3	3
LRP1B	53353	broad.mit.edu	37	2	141283458	141283458	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141283458C>T	uc002tvj.1	-	c.7981G>A	c.(7981-7983)GGG>AGG	p.G2661R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2661	Extracellular (Potential).|LDL-receptor class A 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		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)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.147059	7.950364	12.022157	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141283458	141283458	9328	2	C	T	T	T	299	23	LRP1B	1	1
LRP1B	53353	broad.mit.edu	37	2	142004857	142004857	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:142004857G>T	uc002tvj.1	-	c.530C>A	c.(529-531)ACT>AAT	p.T177N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	177	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		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)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.098765	11.085111	37.165308	16	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142004857	142004857	9328	2	G	T	T	T	468	36	LRP1B	2	2
ZEB2	9839	broad.mit.edu	37	2	145156600	145156600	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:145156600G>T	uc002tvu.2	-	c.2154C>A	c.(2152-2154)AAC>AAA	p.N718K	ZEB2_uc002tvv.2_Missense_Mutation_p.N712K|ZEB2_uc010zbm.1_Missense_Mutation_p.N689K|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.N747K	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	718					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|large_intestine(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.112)		Melanoma(33;1235 1264 5755 16332)								0.131868	57.800554	93.755806	36	237	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145156600	145156600	18212	2	G	T	T	T	620	48	ZEB2	2	2
ZEB2	9839	broad.mit.edu	37	2	145157187	145157187	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:145157187T>C	uc002tvu.2	-	c.1567A>G	c.(1567-1569)AAA>GAA	p.K523E	ZEB2_uc002tvv.2_Missense_Mutation_p.K517E|ZEB2_uc010zbm.1_Missense_Mutation_p.K494E|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.K552E	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	523					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|large_intestine(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.112)		Melanoma(33;1235 1264 5755 16332)								0.181818	54.064415	64.500627	20	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145157187	145157187	18212	2	T	C	C	C	793	61	ZEB2	4	4
ZEB2	9839	broad.mit.edu	37	2	145187523	145187523	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:145187523C>G	uc002tvu.2	-	c.144G>C	c.(142-144)GAG>GAC	p.E48D	ZEB2_uc002tvv.2_Missense_Mutation_p.E43D|ZEB2_uc010zbm.1_Missense_Mutation_p.E43D|ZEB2_uc010fnp.2_Missense_Mutation_p.E43D|ZEB2_uc010fnq.1_Missense_Mutation_p.E77D|ZEB2_uc002tvw.2_Missense_Mutation_p.E43D	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	48					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|large_intestine(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.112)		Melanoma(33;1235 1264 5755 16332)								0.138889	17.099374	26.174796	10	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145187523	145187523	18212	2	C	G	G	G	311	24	ZEB2	3	3
ACVR2A	92	broad.mit.edu	37	2	148683668	148683668	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:148683668C>T	uc002twg.2	+	c.1285C>T	c.(1285-1287)CAG>TAG	p.Q429*	ACVR2A_uc010zbn.1_Nonsense_Mutation_p.Q321*|ACVR2A_uc002twh.2_Nonsense_Mutation_p.Q429*	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	429	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation|protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|kidney(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0969)						196				0.25	58.819993	64.506743	25	75	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	148683668	148683668	224	2	C	T	T	T	325	25	ACVR2A	5	2
MBD5	55777	broad.mit.edu	37	2	149227675	149227675	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:149227675G>T	uc002twm.3	+	c.2163G>T	c.(2161-2163)CCG>CCT	p.P721P	MBD5_uc010zbs.1_Non-coding_Transcript|MBD5_uc010fns.2_Silent_p.P721P|MBD5_uc002twn.1_Silent_p.P162P	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	721						chromosome|nucleus	chromatin binding|DNA binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.0569)										0.183673	20.745416	25.346396	9	40	KEEP	---	---	---	---	capture		Silent	SNP	149227675	149227675	9735	2	G	T	T	T	496	39	MBD5	1	1
LY75	4065	broad.mit.edu	37	2	160692035	160692035	+	Missense_Mutation	SNP	T	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160692035T>G	uc002ubb.3	-	c.3629A>C	c.(3628-3630)GAT>GCT	p.D1210A	LY75_uc010fos.2_Missense_Mutation_p.D1210A|LY75_uc002ubc.3_Missense_Mutation_p.D1210A	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1210	Extracellular (Potential).|C-type lectin 7.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)										0.102564	5.571234	11.708466	4	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160692035	160692035	9476	2	T	G	G	G	650	50	LY75	4	4
SCN1A	6323	broad.mit.edu	37	2	166892752	166892752	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166892752C>G	uc010zcz.1	-	c.3202G>C	c.(3202-3204)GTA>CTA	p.V1068L	SCN1A_uc002udo.3_Missense_Mutation_p.V948L|SCN1A_uc010fpk.2_Missense_Mutation_p.V920L	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1079						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|large_intestine(1)	7					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)									0.163265	20.166844	25.446717	8	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166892752	166892752	14396	2	C	G	G	G	221	17	SCN1A	3	3
XIRP2	129446	broad.mit.edu	37	2	168100897	168100897	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168100897C>T	uc002udx.2	+	c.2995C>T	c.(2995-2997)CAT>TAT	p.H999Y	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.H824Y|XIRP2_uc010fpq.2_Missense_Mutation_p.H777Y|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	824					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.169492	17.210795	23.314222	10	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168100897	168100897	18011	2	C	T	T	T	377	29	XIRP2	2	2
LRP2	4036	broad.mit.edu	37	2	170131704	170131704	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170131704C>G	uc002ues.2	-	c.1817G>C	c.(1816-1818)GGA>GCA	p.G606A	LRP2_uc010zdf.1_Missense_Mutation_p.G537A	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	606	LDL-receptor class B 4.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.145455	17.674155	24.313374	8	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170131704	170131704	9329	2	C	G	G	G	390	30	LRP2	3	3
PHOSPHO2	493911	broad.mit.edu	37	2	170558020	170558020	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170558020G>T	uc002ufg.2	+	c.539G>T	c.(538-540)GGT>GTT	p.G180V	KLHL23_uc002ufh.1_Intron	NM_001008489	NP_001008489	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	180							metal ion binding|pyridoxal phosphatase activity				0														0.157895	32.978955	45.699982	18	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170558020	170558020	12281	2	G	T	T	T	572	44	PHOSPHO2	2	2
DLX2	1746	broad.mit.edu	37	2	172965595	172965595	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:172965595G>T	uc002uhn.2	-	c.663C>A	c.(661-663)CAC>CAA	p.H221Q		NM_004405	NP_004396	Q07687	DLX2_HUMAN	distal-less homeobox 2	221						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GBM(188;775 2993 11256 23072)								0.287879	44.890063	47.558865	19	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172965595	172965595	4751	2	G	T	T	T	568	44	DLX2	2	2
TTN	7273	broad.mit.edu	37	2	179440902	179440902	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179440902G>A	uc010zfg.1	-	c.62253C>T	c.(62251-62253)ATC>ATT	p.I20751I	TTN_uc010zfh.1_Silent_p.I14446I|TTN_uc010zfi.1_Silent_p.I14379I|TTN_uc010zfj.1_Silent_p.I14254I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1533										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)							8722				0.170543	38.859331	52.115272	22	107	KEEP	---	---	---	---	capture		Silent	SNP	179440902	179440902	17290	2	G	A	A	A	577	45	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179440974	179440974	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179440974G>A	uc010zfg.1	-	c.62181C>T	c.(62179-62181)GCC>GCT	p.A20727A	TTN_uc010zfh.1_Silent_p.A14422A|TTN_uc010zfi.1_Silent_p.A14355A|TTN_uc010zfj.1_Silent_p.A14230A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3296										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)							8722				0.1875	45.301985	55.55176	21	91	KEEP	---	---	---	---	capture		Silent	SNP	179440974	179440974	17290	2	G	A	A	A	548	43	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179567309	179567309	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179567309G>A	uc010zfg.1	-	c.26573C>T	c.(26572-26574)TCC>TTC	p.S8858F	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S5519F|TTN_uc010fre.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3968										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)							8722				0.13125	28.157359	49.316062	21	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179567309	179567309	17290	2	G	A	A	A	533	41	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179588867	179588867	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179588867C>A	uc010zfg.1	-	c.17387G>T	c.(17386-17388)CGA>CTA	p.R5796L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R2457L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2795										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)							8722				0.228571	20.881489	23.246755	8	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179588867	179588867	17290	2	C	A	A	A	403	31	TTN	1	1
CCDC141	285025	broad.mit.edu	37	2	179702053	179702053	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179702053G>T	uc002unf.1	-	c.2168C>A	c.(2167-2169)CCC>CAC	p.P723H	CCDC141_uc002une.1_Missense_Mutation_p.P173H	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	723							protein binding			ovary(7)|pancreas(2)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)											0.109091	8.818208	25.480659	12	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179702053	179702053	2895	2	G	T	T	T	559	43	CCDC141	2	2
CCDC141	285025	broad.mit.edu	37	2	179702335	179702335	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179702335T>A	uc002unf.1	-	c.1886A>T	c.(1885-1887)GAA>GTA	p.E629V	CCDC141_uc002une.1_Missense_Mutation_p.E79V	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	629							protein binding			ovary(7)|pancreas(2)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)											0.138211	20.392	35.968748	17	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179702335	179702335	2895	2	T	A	A	A	806	62	CCDC141	3	3
SESTD1	91404	broad.mit.edu	37	2	179989108	179989108	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179989108G>T	uc002uni.3	-	c.1150C>A	c.(1150-1152)CAT>AAT	p.H384N	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	384	Spectrin 2.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)											0.2125	39.527609	45.64147	17	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179989108	179989108	14615	2	G	T	T	T	585	45	SESTD1	2	2
ITGA4	3676	broad.mit.edu	37	2	182346387	182346388	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:182346387_182346388CC>AA	uc002unu.2	+	c.817_818CC>AA	c.(817-819)CCT>AAT	p.P273N	ITGA4_uc010zfl.1_Missense_Mutation_p.P273N	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	273	FG-GAP 4.|Extracellular (Potential).				B cell differentiation|blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)									0.136364	4.411376	7.227187	3	19	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	182346387	182346388	8182	2	CC	AA	AA	AA	390	30	ITGA4	2	2
NCKAP1	10787	broad.mit.edu	37	2	183832073	183832073	+	Nonsense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:183832073G>C	uc002upb.2	-	c.1517C>G	c.(1516-1518)TCA>TGA	p.S506*	NCKAP1_uc002upc.2_Nonsense_Mutation_p.S500*	NM_205842	NP_995314	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 2	500					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)											0.150943	17.665799	23.851447	8	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	183832073	183832073	10620	2	G	C	C	C	585	45	NCKAP1	5	3
MYT1L	23040	broad.mit.edu	37	2	1855465	1855465	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1855465G>T	uc002qxe.2	-	c.2722C>A	c.(2722-2724)CCT>ACT	p.P908T	MYT1L_uc002qxd.2_Missense_Mutation_p.P906T	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	908	C2HC-type 4.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)										0.196078	66.655339	79.83155	30	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1855465	1855465	10502	2	G	T	T	T	546	42	MYT1L	2	2
ZNF804A	91752	broad.mit.edu	37	2	185801843	185801843	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185801843G>T	uc002uph.2	+	c.1720G>T	c.(1720-1722)GAT>TAT	p.D574Y		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	574						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.242424	18.781404	20.779489	8	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185801843	185801843	18768	2	G	T	T	T	429	33	ZNF804A	2	2
ZSWIM2	151112	broad.mit.edu	37	2	187694605	187694605	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:187694605T>A	uc002upu.1	-	c.944A>T	c.(943-945)CAA>CTA	p.Q315L		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	315					apoptosis		zinc ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)											0.082707	2.122807	25.67492	11	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187694605	187694605	18845	2	T	A	A	A	819	63	ZSWIM2	3	3
DIRC1	116093	broad.mit.edu	37	2	189599394	189599394	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189599394C>T	uc002uqi.1	-	c.254G>A	c.(253-255)AGG>AAG	p.R85K		NM_052952	NP_443184	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	85											0			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)											0.116822	36.316675	67.226159	25	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189599394	189599394	4712	2	C	T	T	T	312	24	DIRC1	2	2
MYT1L	23040	broad.mit.edu	37	2	1926244	1926244	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1926244G>T	uc002qxe.2	-	c.1297C>A	c.(1297-1299)CTG>ATG	p.L433M	MYT1L_uc002qxd.2_Missense_Mutation_p.L433M|MYT1L_uc010ewl.1_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	433					cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)										0.13089	36.134375	61.446421	25	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1926244	1926244	10502	2	G	T	T	T	451	35	MYT1L	2	2
PLCL1	5334	broad.mit.edu	37	2	199011651	199011651	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:199011651G>T	uc010fsp.2	+	c.3253G>T	c.(3253-3255)GAG>TAG	p.E1085*	PLCL1_uc002uuv.3_Nonsense_Mutation_p.E1006*	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	1085					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1					Quinacrine(DB01103)									0.225806	13.902056	16.049972	7	24	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	199011651	199011651	12465	2	G	T	T	T	533	41	PLCL1	5	2
SATB2	23314	broad.mit.edu	37	2	200246529	200246529	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:200246529C>A	uc002uuy.1	-	c.361G>T	c.(361-363)GGA>TGA	p.G121*	SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Nonsense_Mutation_p.G121*|SATB2_uc002uva.1_Nonsense_Mutation_p.G121*	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	121						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						Colon(30;262 767 11040 24421 36230)								0.152174	11.392731	16.722479	7	39	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	200246529	200246529	14335	2	C	A	A	A	286	22	SATB2	5	2
NRP2	8828	broad.mit.edu	37	2	206610595	206610595	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:206610595G>T	uc002vaw.2	+	c.1767G>T	c.(1765-1767)GTG>GTT	p.V589V	NRP2_uc002vau.2_Silent_p.V589V|NRP2_uc002vav.2_Silent_p.V589V|NRP2_uc002vax.2_Silent_p.V589V|NRP2_uc002vay.2_Silent_p.V589V	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	589	Extracellular (Potential).|F5/8 type C 2.				axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			ovary(1)|central_nervous_system(1)	2														0.19403	28.277675	34.09884	13	54	KEEP	---	---	---	---	capture		Silent	SNP	206610595	206610595	11066	2	G	T	T	T	587	46	NRP2	2	2
APOB	338	broad.mit.edu	37	2	21235092	21235092	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21235092G>T	uc002red.2	-	c.4648C>A	c.(4648-4650)CTG>ATG	p.L1550M		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1550					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.12766	12.824278	25.546371	12	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21235092	21235092	796	2	G	T	T	T	425	33	APOB	2	2
ABCA12	26154	broad.mit.edu	37	2	215880350	215880350	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:215880350G>C	uc002vew.2	-	c.1820C>G	c.(1819-1821)ACT>AGT	p.T607S	ABCA12_uc002vev.2_Missense_Mutation_p.T289S|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	607					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|breast(1)|central_nervous_system(1)|pancreas(1)	9		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		Ovarian(66;664 1488 5121 34295)								0.147368	29.884316	41.231407	14	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215880350	215880350	31	2	G	C	C	C	468	36	ABCA12	3	3
MARCH4	57574	broad.mit.edu	37	2	217124302	217124302	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:217124302G>A	uc002vgb.2	-	c.966C>T	c.(964-966)GAC>GAT	p.D322D		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4	322						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)										0.130435	11.139836	20.298539	9	60	KEEP	---	---	---	---	capture		Silent	SNP	217124302	217124302	9686	2	G	A	A	A	568	44	MARCH4	2	2
VIL1	7429	broad.mit.edu	37	2	219296838	219296838	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219296838G>T	uc002via.2	+	c.1273G>T	c.(1273-1275)GAC>TAC	p.D425Y	VIL1_uc010zke.1_Missense_Mutation_p.D114Y|VIL1_uc002vib.2_Missense_Mutation_p.D425Y	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	425	Gelsolin-like 4.|Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.148936	8.392967	13.957608	7	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219296838	219296838	17731	2	G	T	T	T	481	37	VIL1	1	1
IHH	3549	broad.mit.edu	37	2	219922303	219922303	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219922303G>T	uc002vjo.1	-	c.429C>A	c.(427-429)TCC>TCA	p.S143S		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	143					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity				0		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.232558	22.125842	24.943995	10	33	KEEP	---	---	---	---	capture		Silent	SNP	219922303	219922303	7908	2	G	T	T	T	548	43	IHH	2	2
TUBA4A	7277	broad.mit.edu	37	2	220116417	220116417	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220116417G>A	uc002vkt.1	-	c.245C>T	c.(244-246)CCA>CTA	p.P82L	TUBA4A_uc010zkz.1_Missense_Mutation_p.P67L|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	tubulin, alpha 4a	82					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)	3		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.105263	8.341638	20.113616	8	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220116417	220116417	17304	2	G	A	A	A	611	47	TUBA4A	2	2
OBSL1	23363	broad.mit.edu	37	2	220421267	220421267	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220421267G>T	uc010fwk.2	-	c.4245C>A	c.(4243-4245)ATC>ATA	p.I1415I	OBSL1_uc002vmh.1_Silent_p.I314I|OBSL1_uc010zli.1_Silent_p.I222I|OBSL1_uc010fwl.1_Silent_p.I890I	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1415	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)										0.144	25.858021	41.121165	18	107	KEEP	---	---	---	---	capture		Silent	SNP	220421267	220421267	11218	2	G	T	T	T	421	33	OBSL1	2	2
OBSL1	23363	broad.mit.edu	37	2	220424002	220424002	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220424002G>T	uc010fwk.2	-	c.3171C>A	c.(3169-3171)GGC>GGA	p.G1057G	OBSL1_uc002vmh.1_Silent_p.G48G|OBSL1_uc010zli.1_Silent_p.G48G|OBSL1_uc010fwl.1_Silent_p.G532G	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1057	Ig-like 8.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)										0.161111	56.341149	75.86703	29	151	KEEP	---	---	---	---	capture		Silent	SNP	220424002	220424002	11218	2	G	T	T	T	483	38	OBSL1	1	1
CUL3	8452	broad.mit.edu	37	2	225346795	225346795	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:225346795C>A	uc010fwy.1	-	c.1861G>T	c.(1861-1863)GAA>TAA	p.E621*	CUL3_uc002vny.2_Nonsense_Mutation_p.E615*|CUL3_uc010zls.1_Nonsense_Mutation_p.E549*	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	615					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			ovary(1)|liver(1)|kidney(1)	3		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)										0.210526	8.301266	9.765848	4	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	225346795	225346795	4216	2	C	A	A	A	390	30	CUL3	5	2
SPHKAP	80309	broad.mit.edu	37	2	228882376	228882376	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228882376G>T	uc002vpq.2	-	c.3194C>A	c.(3193-3195)CCC>CAC	p.P1065H	SPHKAP_uc002vpp.2_Missense_Mutation_p.P1065H|SPHKAP_uc010zlx.1_Missense_Mutation_p.P1065H	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1065						cytoplasm	protein binding			ovary(4)|lung(1)	5		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)										0.094595	0.971556	13.191906	7	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228882376	228882376	15560	2	G	T	T	T	559	43	SPHKAP	2	2
PID1	55022	broad.mit.edu	37	2	229890732	229890732	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:229890732C>T	uc002vpr.3	-	c.369G>A	c.(367-369)ACG>ACA	p.T123T	PID1_uc002vps.3_Silent_p.T121T|PID1_uc002vpt.3_Silent_p.T90T|PID1_uc002vpu.3_Silent_p.T41T	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	123	PID.					cytoplasm				breast(3)	3		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)										0.163462	27.104673	38.304066	17	87	KEEP	---	---	---	---	capture		Silent	SNP	229890732	229890732	12306	2	C	T	T	T	340	27	PID1	1	1
SP110	3431	broad.mit.edu	37	2	231065682	231065682	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:231065682C>A	uc002vqg.3	-	c.1049_splice	c.e10-1	p.E350_splice	SP110_uc002vqh.3_Splice_Site_SNP_p.E350_splice|SP110_uc002vqi.3_Splice_Site_SNP_p.E350_splice|SP110_uc010fxk.2_Splice_Site_SNP_p.E348_splice|SP110_uc010fxj.2_Splice_Site_SNP	NM_080424	NP_536349			SP110 nuclear body protein isoform c						interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)						445				0.131579	32.029206	57.112121	25	165	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	231065682	231065682	15461	2	C	A	A	A	416	32	SP110	5	2
CHRND	1144	broad.mit.edu	37	2	233392133	233392133	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233392133C>A	uc002vsw.2	+	c.221C>A	c.(220-222)ACT>AAT	p.T74N	CHRND_uc010zmg.1_Intron|CHRND_uc010fyc.2_5'UTR|CHRND_uc010zmh.1_5'UTR	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	74	Extracellular (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)										0.097701	6.932062	35.156846	17	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233392133	233392133	3528	2	C	A	A	A	260	20	CHRND	2	2
CHRND	1144	broad.mit.edu	37	2	233398732	233398732	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233398732C>T	uc002vsw.2	+	c.1139C>T	c.(1138-1140)TCC>TTC	p.S380F	CHRND_uc010zmg.1_Missense_Mutation_p.S365F|CHRND_uc010fyc.2_Missense_Mutation_p.S253F|CHRND_uc010zmh.1_Missense_Mutation_p.S186F	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	380	Cytoplasmic (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)										0.211679	64.395115	74.929785	29	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233398732	233398732	3528	2	C	T	T	T	390	30	CHRND	2	2
USP40	55230	broad.mit.edu	37	2	234463045	234463045	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234463045C>T	uc010zmr.1	-	c.710G>A	c.(709-711)AGG>AAG	p.R237K	USP40_uc010zmu.1_Missense_Mutation_p.R225K	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin thioesterase 40	225					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)	1		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)										0.181818	22.214136	27.447079	10	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234463045	234463045	17636	2	C	T	T	T	312	24	USP40	2	2
HJURP	55355	broad.mit.edu	37	2	234749700	234749700	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234749700G>T	uc002vvg.2	-	c.1726C>A	c.(1726-1728)CGT>AGT	p.R576S	HJURP_uc010znd.1_Missense_Mutation_p.R515S|HJURP_uc010zne.1_Missense_Mutation_p.R484S	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	576					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)										0.152439	41.362269	60.333055	25	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234749700	234749700	7480	2	G	T	T	T	481	37	HJURP	1	1
GBX2	2637	broad.mit.edu	37	2	237074654	237074654	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:237074654G>T	uc002vvw.1	-	c.950C>A	c.(949-951)CCC>CAC	p.P317H	GBX2_uc010zng.1_3'UTR	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	317					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)										0.145455	33.938088	53.855433	24	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237074654	237074654	6547	2	G	T	T	T	559	43	GBX2	2	2
ASB18	401036	broad.mit.edu	37	2	237123093	237123093	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:237123093G>C	uc010znh.1	-	c.1013C>G	c.(1012-1014)TCC>TGC	p.S338C		NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box-containing 18	338					intracellular signal transduction					ovary(1)	1		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)										0.272727	8.01444	8.531257	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237123093	237123093	1040	2	G	C	C	C	533	41	ASB18	3	3
GPR35	2859	broad.mit.edu	37	2	241570038	241570038	+	Silent	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241570038C>G	uc010fzh.1	+	c.762C>G	c.(760-762)CTC>CTG	p.L254L	GPR35_uc010fzi.1_Silent_p.L254L|GPR35_uc002vzs.1_Silent_p.L223L	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	223	Helical; Name=6; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			pancreas(1)|skin(1)	2		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)										0.120482	18.29107	30.012287	10	73	KEEP	---	---	---	---	capture		Silent	SNP	241570038	241570038	6965	2	C	G	G	G	379	30	GPR35	3	3
KIF1A	547	broad.mit.edu	37	2	241659303	241659303	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241659303C>T	uc010fzk.2	-	c.4909G>A	c.(4909-4911)GAG>AAG	p.E1637K	KIF1A_uc002vzy.2_Missense_Mutation_p.E1536K|KIF1A_uc002vzw.2_Missense_Mutation_p.E197K|KIF1A_uc002vzx.2_Missense_Mutation_p.E263K	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1536					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)										0.163934	17.24761	23.763855	10	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241659303	241659303	8594	2	C	T	T	T	403	31	KIF1A	1	1
C2orf39	92749	broad.mit.edu	37	2	26671598	26671598	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26671598C>T	uc002rhg.2	+	c.1436C>T	c.(1435-1437)TCC>TTC	p.S479F		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	479											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.143382	52.136527	85.484964	39	233	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26671598	26671598	2252	2	C	T	T	T	390	30	C2orf39	2	2
TCF23	150921	broad.mit.edu	37	2	27373132	27373132	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27373132G>T	uc010ylg.1	+	c.364G>T	c.(364-366)GCC>TCC	p.A122S		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	transcription factor 23	122	Helix-loop-helix motif.				cell differentiation|muscle organ development	nucleus	transcription regulator activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.370474	403.890343	409.177914	133	226	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27373132	27373132	16218	2	G	T	T	T	494	38	TCF23	1	1
CAD	790	broad.mit.edu	37	2	27457406	27457406	+	Silent	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27457406T>A	uc002rji.2	+	c.3639T>A	c.(3637-3639)ATT>ATA	p.I1213I	CAD_uc010eyw.2_Silent_p.I1150I	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1213	CPSase B.|ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).				'de novo' pyrimidine base biosynthetic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|nuclear matrix	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)					653				0.111437	38.42893	89.301049	38	303	KEEP	---	---	---	---	capture		Silent	SNP	27457406	27457406	2681	2	T	A	A	A	809	63	CAD	3	3
BIRC6	57448	broad.mit.edu	37	2	32602748	32602748	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32602748C>T	uc010ezu.2	+	c.418C>T	c.(418-420)CTT>TTT	p.L140F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	140					anti-apoptosis|apoptosis|post-translational protein modification	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					Pancreas(94;175 1509 16028 18060 45422)				1555				0.333333	79.625598	81.543648	26	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32602748	32602748	1463	2	C	T	T	T	312	24	BIRC6	2	2
DHX57	90957	broad.mit.edu	37	2	39075411	39075411	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:39075411C>A	uc002rrf.2	-	c.2164G>T	c.(2164-2166)GGT>TGT	p.G722C	DHX57_uc002rrd.3_Missense_Mutation_p.G106C|DHX57_uc002rre.2_Missense_Mutation_p.G155C	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	722							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)	2		all_hematologic(82;0.248)				Melanoma(191;1090 2095 4375 23729 47341)								0.171875	20.579984	27.098704	11	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39075411	39075411	4692	2	C	A	A	A	312	24	DHX57	2	2
PREPL	9581	broad.mit.edu	37	2	44571725	44571725	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44571725C>A	uc002ruf.2	-	c.343G>T	c.(343-345)GTT>TTT	p.V115F	PREPL_uc002rug.2_Missense_Mutation_p.V115F|PREPL_uc002ruh.2_Missense_Mutation_p.V115F|PREPL_uc010fax.2_Missense_Mutation_p.V115F|PREPL_uc002rui.3_Missense_Mutation_p.V26F|PREPL_uc002ruj.1_Missense_Mutation_p.V26F|PREPL_uc002ruk.1_Missense_Mutation_p.V115F	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	115					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.16	7.082338	9.835856	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44571725	44571725	12918	2	C	A	A	A	234	18	PREPL	2	2
FSHR	2492	broad.mit.edu	37	2	49189949	49189950	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:49189949_49189950GG>TT	uc002rww.2	-	c.2010_2011CC>AA	c.(2008-2013)GGCCAC>GGAAAC	p.H671N	FSHR_uc002rwx.2_Missense_Mutation_p.H609N|FSHR_uc010fbn.2_Missense_Mutation_p.H645N	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	671	Cytoplasmic (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)	4		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									0.075472	-2.99175	16.610582	8	98	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	49189949	49189950	6324	2	GG	TT	TT	TT	611	47	FSHR	2	2
FSHR	2492	broad.mit.edu	37	2	49190729	49190729	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:49190729T>C	uc002rww.2	-	c.1231A>G	c.(1231-1233)ATT>GTT	p.I411V	FSHR_uc002rwx.2_Missense_Mutation_p.I349V|FSHR_uc010fbn.2_Missense_Mutation_p.I385V	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	411	Helical; Name=2; (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)	4		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									0.155172	34.777036	47.951619	18	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49190729	49190729	6324	2	T	C	C	C	663	51	FSHR	4	4
NRXN1	9378	broad.mit.edu	37	2	51255054	51255054	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:51255054G>T	uc010fbq.2	-	c.358C>A	c.(358-360)CGC>AGC	p.R120S	NRXN1_uc002rxe.3_Missense_Mutation_p.R120S|NRXN1_uc002rxd.1_Missense_Mutation_p.R120S	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	183	Extracellular (Potential).|Laminin G-like.				neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.131579	5.537624	10.581485	5	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51255054	51255054	11070	2	G	T	T	T	507	39	NRXN1	1	1
PNPT1	87178	broad.mit.edu	37	2	55894185	55894185	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:55894185C>A	uc002rzf.2	-	c.1117G>T	c.(1117-1119)GAG>TAG	p.E373*	PNPT1_uc002rzg.2_Non-coding_Transcript	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	373					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)											0.069444	-3.589138	10.209819	5	67	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55894185	55894185	12600	2	C	A	A	A	377	29	PNPT1	5	2
BCL11A	53335	broad.mit.edu	37	2	60689032	60689032	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:60689032T>A	uc002sae.1	-	c.1015A>T	c.(1015-1017)ATG>TTG	p.M339L	BCL11A_uc002sab.2_Missense_Mutation_p.M339L|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.M305L|BCL11A_uc002sad.1_Missense_Mutation_p.M187L|BCL11A_uc002saf.1_Missense_Mutation_p.M305L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	339	Pro-rich.				protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)							131				0.284746	229.016207	241.262814	84	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60689032	60689032	1384	2	T	A	A	A	637	49	BCL11A	3	3
ARHGAP25	9938	broad.mit.edu	37	2	69034414	69034414	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69034414G>T	uc010fdg.2	+	c.476G>T	c.(475-477)GGC>GTC	p.G159V	ARHGAP25_uc010yqk.1_Missense_Mutation_p.G133V|ARHGAP25_uc002seu.2_Missense_Mutation_p.G158V|ARHGAP25_uc010yql.1_Missense_Mutation_p.G119V|ARHGAP25_uc002sev.2_Missense_Mutation_p.G152V|ARHGAP25_uc002sew.2_Missense_Mutation_p.G151V|ARHGAP25_uc002sex.2_Missense_Mutation_p.G152V|ARHGAP25_uc010fdh.1_Non-coding_Transcript|ARHGAP25_uc002sey.2_5'UTR	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	158					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4														0.155172	13.933126	20.527358	9	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69034414	69034414	886	2	G	T	T	T	546	42	ARHGAP25	2	2
CD207	50489	broad.mit.edu	37	2	71058869	71058870	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71058869_71058870CC>AA	uc002shg.2	-	c.798_799GG>TT	c.(796-801)TGGGTG>TGTTTG	p.266_267WV>CL		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 antigen, langerin	266_267	C-type lectin.|Extracellular (Potential).				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			ovary(1)|lung(1)	2														0.11039	16.771937	39.906628	17	137	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	71058869	71058870	3110	2	CC	AA	AA	AA	234	18	CD207	2	2
TEX261	113419	broad.mit.edu	37	2	71220883	71220883	+	Silent	SNP	T	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71220883T>G	uc002shn.2	-	c.93A>C	c.(91-93)GCA>GCC	p.A31A	TEX261_uc010fdy.2_5'UTR	NM_144582	NP_653183	Q6UWH6	TX261_HUMAN	testis expressed sequence 261	31						integral to membrane					0														0.140426	59.423467	88.757286	33	202	KEEP	---	---	---	---	capture		Silent	SNP	71220883	71220883	16309	2	T	G	G	G	704	55	TEX261	4	4
CCT7	10574	broad.mit.edu	37	2	73478400	73478400	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73478400C>A	uc002siz.2	+	c.1250C>A	c.(1249-1251)TCC>TAC	p.S417Y	CCT7_uc002sja.2_Missense_Mutation_p.S213Y|CCT7_uc010yrf.1_Missense_Mutation_p.S373Y|CCT7_uc010feu.2_Missense_Mutation_p.S375Y|CCT7_uc010yrg.1_Missense_Mutation_p.S317Y|CCT7_uc010yrh.1_Missense_Mutation_p.S289Y|CCT7_uc010yri.1_Missense_Mutation_p.S330Y	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	417					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0														0.157143	34.469451	50.167162	22	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73478400	73478400	3086	2	C	A	A	A	390	30	CCT7	2	2
EGR4	1961	broad.mit.edu	37	2	73520449	73520449	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73520449G>A	uc010yrj.1	-	c.306C>T	c.(304-306)CGC>CGT	p.R102R	EGR4_uc010yrk.1_Silent_p.R102R	NM_001965	NP_001956	B7ZKU3	B7ZKU3_HUMAN	early growth response 4	192						intracellular	nucleic acid binding|zinc ion binding				0														0.25	10.091645	11.001089	4	12	KEEP	---	---	---	---	capture		Silent	SNP	73520449	73520449	5163	2	G	A	A	A	483	38	EGR4	1	1
REG1B	5968	broad.mit.edu	37	2	79312369	79312369	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79312369G>T	uc002sny.2	-	c.474C>A	c.(472-474)TTC>TTA	p.F158L		NM_006507	NP_006498	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta precursor	158	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)	1														0.15	8.919798	13.623445	6	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79312369	79312369	13680	2	G	T	T	T	425	33	REG1B	2	2
REG1B	5968	broad.mit.edu	37	2	79314057	79314057	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79314057C>A	uc002sny.2	-	c.65_splice	c.e3-1	p.G22_splice	REG1B_uc010ffv.1_Splice_Site_SNP_p.G22_splice|REG1B_uc010ffw.2_Intron	NM_006507	NP_006498			regenerating islet-derived 1 beta precursor						cell proliferation	extracellular region	sugar binding			central_nervous_system(1)	1														0.119792	24.477333	51.726277	23	169	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	79314057	79314057	13680	2	C	A	A	A	312	24	REG1B	5	2
REG3A	5068	broad.mit.edu	37	2	79384787	79384787	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79384787C>A	uc002sod.1	-	c.371G>T	c.(370-372)AGC>ATC	p.S124I	REG3A_uc002soe.1_Missense_Mutation_p.S124I|REG3A_uc002sof.1_Missense_Mutation_p.S124I	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	124	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding				0														0.142857	35.240934	54.174611	22	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79384787	79384787	13681	2	C	A	A	A	364	28	REG3A	2	2
LRRTM1	347730	broad.mit.edu	37	2	80530092	80530092	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:80530092G>T	uc002sok.1	-	c.853C>A	c.(853-855)CTG>ATG	p.L285M	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	285	LRR 9.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)	3														0.324675	64.628884	66.74003	25	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80530092	80530092	9415	2	G	T	T	T	451	35	LRRTM1	2	2
CPSF3	51692	broad.mit.edu	37	2	9583777	9583777	+	Missense_Mutation	SNP	A	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:9583777A>C	uc002qzo.1	+	c.1229A>C	c.(1228-1230)AAA>ACA	p.K410T	CPSF3_uc010ewx.1_Intron|CPSF3_uc002qzp.1_Missense_Mutation_p.K373T	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3,	410					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			breast(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		Colon(194;1259 2048 3845 5218 19985)								0.322917	215.895543	221.234301	62	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9583777	9583777	3964	2	A	C	C	C	13	1	CPSF3	4	4
CPSF3	51692	broad.mit.edu	37	2	9583780	9583780	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:9583780C>T	uc002qzo.1	+	c.1232C>T	c.(1231-1233)CCG>CTG	p.P411L	CPSF3_uc010ewx.1_Intron|CPSF3_uc002qzp.1_Missense_Mutation_p.P374L	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3,	411					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			breast(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		Colon(194;1259 2048 3845 5218 19985)								0.320856	172.365846	177.680245	60	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9583780	9583780	3964	2	C	T	T	T	299	23	CPSF3	1	1
FAHD2B	151313	broad.mit.edu	37	2	97749976	97749976	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:97749976C>A	uc002sxm.2	-	c.724G>T	c.(724-726)GAA>TAA	p.E242*		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing	242							hydrolase activity|metal ion binding				0														0.134831	26.267926	49.305276	24	154	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	97749976	97749976	5571	2	C	A	A	A	390	30	FAHD2B	5	2
TMEM111	55831	broad.mit.edu	37	3	10005863	10005863	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:10005863C>G	uc003bun.2	-	c.676G>C	c.(676-678)GAG>CAG	p.E226Q	CIDEC_uc003bto.2_Intron	NM_018447	NP_060917	Q9P0I2	TM111_HUMAN	transmembrane protein 111	226						integral to membrane					0														0.067416	-3.11804	14.128396	6	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10005863	10005863	16558	3	C	G	G	G	390	30	TMEM111	3	3
ABI3BP	25890	broad.mit.edu	37	3	100569548	100569548	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:100569548G>T	uc003dun.2	-	c.1256C>A	c.(1255-1257)CCA>CAA	p.P419Q	ABI3BP_uc003duo.2_Missense_Mutation_p.P461Q	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	419	Pro-rich.					extracellular space				ovary(2)|large_intestine(1)	3														0.222222	28.774009	32.605069	12	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100569548	100569548	92	3	G	T	T	T	611	47	ABI3BP	2	2
ZPLD1	131368	broad.mit.edu	37	3	102189322	102189322	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:102189322G>T	uc003dvt.1	+	c.1066G>T	c.(1066-1068)GCT>TCT	p.A356S	ZPLD1_uc003dvs.1_Missense_Mutation_p.A340S|ZPLD1_uc011bhg.1_Missense_Mutation_p.A340S	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	340	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3														0.210526	25.356996	29.790015	12	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102189322	102189322	18825	3	G	T	T	T	598	46	ZPLD1	2	2
PHLDB2	90102	broad.mit.edu	37	3	111603453	111603453	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111603453C>A	uc010hqa.2	+	c.529C>A	c.(529-531)CTG>ATG	p.L177M	PHLDB2_uc003dyc.2_Missense_Mutation_p.L204M|PHLDB2_uc003dyd.2_Missense_Mutation_p.L177M|PHLDB2_uc003dyg.2_Missense_Mutation_p.L177M|PHLDB2_uc003dyh.2_Missense_Mutation_p.L177M|PHLDB2_uc003dye.3_Missense_Mutation_p.L177M|PHLDB2_uc003dyf.3_Missense_Mutation_p.L177M	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	177						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)	4														0.166667	25.492776	34.346904	14	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111603453	111603453	12276	3	C	A	A	A	311	24	PHLDB2	2	2
TAGLN3	29114	broad.mit.edu	37	3	111732327	111732327	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111732327C>A	uc003dym.2	+	c.529C>A	c.(529-531)CAG>AAG	p.Q177K	TAGLN3_uc003dyl.2_Missense_Mutation_p.Q177K|TAGLN3_uc003dyn.2_Missense_Mutation_p.Q177K|TAGLN3_uc003dyo.2_Missense_Mutation_p.Q177K	NM_001008272	NP_001008273	Q9UI15	TAGL3_HUMAN	transgelin 3	177	Calponin-like.				central nervous system development|muscle organ development						0														0.076433	-2.532035	26.328085	12	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111732327	111732327	16061	3	C	A	A	A	325	25	TAGLN3	2	2
KIAA2018	205717	broad.mit.edu	37	3	113377384	113377384	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113377384G>A	uc003eam.2	-	c.3145C>T	c.(3145-3147)CAG>TAG	p.Q1049*	KIAA2018_uc003eal.2_Nonsense_Mutation_p.Q993*	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1049						membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|transcription regulator activity			ovary(1)	1														0.15508	45.139975	66.411639	29	158	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	113377384	113377384	8579	3	G	A	A	A	624	48	KIAA2018	5	2
KIAA2018	205717	broad.mit.edu	37	3	113378844	113378844	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113378844G>A	uc003eam.2	-	c.1685C>T	c.(1684-1686)CCA>CTA	p.P562L	KIAA2018_uc003eal.2_Missense_Mutation_p.P506L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	562						membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|transcription regulator activity			ovary(1)	1														0.282178	153.587301	162.200022	57	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113378844	113378844	8579	3	G	A	A	A	611	47	KIAA2018	2	2
ZNF80	7634	broad.mit.edu	37	3	113955203	113955203	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113955203G>T	uc010hqo.2	-	c.719C>A	c.(718-720)ACT>AAT	p.T240N	ZNF80_uc003ebf.2_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	zinc finger protein 80	240					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GBM(23;986 1114 21716)								0.12	22.838618	44.093533	18	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113955203	113955203	18766	3	G	T	T	T	468	36	ZNF80	2	2
ZBTB20	26137	broad.mit.edu	37	3	114069770	114069770	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:114069770G>A	uc003ebi.2	-	c.1155C>T	c.(1153-1155)ACC>ACT	p.T385T	ZBTB20_uc003ebj.2_Silent_p.T312T|ZBTB20_uc010hqp.2_Silent_p.T312T|ZBTB20_uc003ebk.2_Silent_p.T312T|ZBTB20_uc003ebl.2_Silent_p.T312T|ZBTB20_uc003ebm.2_Silent_p.T312T|ZBTB20_uc003ebn.2_Silent_p.T312T	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		NSCLC(69;748 1344 9802 11203 30933)								0.285714	80.166473	84.200208	28	70	KEEP	---	---	---	---	capture		Silent	SNP	114069770	114069770	18115	3	G	A	A	A	496	39	ZBTB20	1	1
CD80	941	broad.mit.edu	37	3	119263667	119263667	+	Missense_Mutation	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119263667A>G	uc003ecq.2	-	c.148T>C	c.(148-150)TGT>CGT	p.C50R	CD80_uc010hqt.1_Missense_Mutation_p.C50R|CD80_uc010hqu.1_Missense_Mutation_p.C50R|CD80_uc003ecr.1_Missense_Mutation_p.C50R	NM_005191	NP_005182	P33681	CD80_HUMAN	CD80 antigen precursor	50	Extracellular (Potential).|Ig-like V-type.				cell-cell signaling|interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell activation|T cell costimulation	integral to membrane	coreceptor activity|protein binding|transcription activator activity			ovary(1)	1					Abatacept(DB01281)	Melanoma(132;135 1764 1806 5833 14593)								0.078947	2.387832	16.148857	6	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119263667	119263667	3166	3	A	G	G	G	91	7	CD80	4	4
NR1I2	8856	broad.mit.edu	37	3	119526124	119526124	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119526124G>T	uc003edk.2	+	c.144G>T	c.(142-144)TGG>TGT	p.W48C	NR1I2_uc003edi.2_Missense_Mutation_p.W9C|NR1I2_uc003edj.2_Missense_Mutation_p.W9C	NM_022002	NP_071285	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	9					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription repressor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)									0.111111	12.211234	31.008824	14	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119526124	119526124	11025	3	G	T	T	T	533	41	NR1I2	2	2
STXBP5L	9515	broad.mit.edu	37	3	120957869	120957869	+	Silent	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:120957869T>A	uc003eec.3	+	c.1236T>A	c.(1234-1236)GTT>GTA	p.V412V	STXBP5L_uc011bji.1_Silent_p.V412V	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	412					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)	7				GBM - Glioblastoma multiforme(114;0.0694)										0.272727	15.541271	16.56493	6	16	KEEP	---	---	---	---	capture		Silent	SNP	120957869	120957869	15877	3	T	A	A	A	782	61	STXBP5L	3	3
POLQ	10721	broad.mit.edu	37	3	121230733	121230733	+	Splice_Site_SNP	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121230733C>G	uc003eee.3	-	c.1611_splice	c.e10+1	p.E537_splice		NM_199420	NP_955452			DNA polymerase theta						DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity			ovary(4)|skin(1)	5				GBM - Glioblastoma multiforme(114;0.0915)		Pancreas(152;907 1925 26081 31236 36904)								0.104575	24.379813	48.174905	16	137	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	121230733	121230733	12636	3	C	G	G	G	234	18	POLQ	5	3
CD86	942	broad.mit.edu	37	3	121825185	121825185	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121825185G>T	uc003eet.2	+	c.541G>T	c.(541-543)GAG>TAG	p.E181*	CD86_uc011bjo.1_Nonsense_Mutation_p.E99*|CD86_uc011bjp.1_Nonsense_Mutation_p.E69*|CD86_uc003eeu.2_Nonsense_Mutation_p.E175*	NM_175862	NP_787058	P42081	CD86_HUMAN	CD86 antigen isoform 1	181	Ig-like C2-type.|Extracellular (Potential).				cell-cell signaling|interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	integral to membrane	coreceptor activity|protein binding|transcription activator activity			pancreas(1)	1				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GBM(67;1379 1389 36064 39806)								0.122807	16.866632	32.746578	14	100	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	121825185	121825185	3171	3	G	T	T	T	481	37	CD86	5	1
UMPS	7372	broad.mit.edu	37	3	124453975	124453975	+	Silent	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124453975A>T	uc003ehl.3	+	c.192A>T	c.(190-192)GCA>GCT	p.A64A	UMPS_uc003ehm.3_Non-coding_Transcript|UMPS_uc011bka.1_Missense_Mutation_p.Q2L|UMPS_uc011bkb.1_5'UTR|UMPS_uc011bkc.1_Intron|UMPS_uc003ehn.3_Intron|UMPS_uc011bkd.1_Intron	NM_000373	NP_000364	P11172	PYR5_HUMAN	uridine monophosphate synthase	64	OPRTase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.146)										0.144578	23.043549	33.133898	12	71	KEEP	---	---	---	---	capture		Silent	SNP	124453975	124453975	17539	3	A	T	T	T	80	7	UMPS	3	3
PLXNA1	5361	broad.mit.edu	37	3	126707723	126707723	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:126707723A>T	uc003ejg.2	+	c.218A>T	c.(217-219)TAC>TTC	p.Y73F		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	96	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(114;0.155)										0.227273	54.012484	61.549909	25	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126707723	126707723	12545	3	A	T	T	T	182	14	PLXNA1	3	3
TF	7018	broad.mit.edu	37	3	133485215	133485215	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:133485215G>C	uc003epu.1	+	c.1424G>C	c.(1423-1425)AGA>ACA	p.R475T	TF_uc011blt.1_Missense_Mutation_p.R348T|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.R475T	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	475	Transferrin-like 2.	Carbonate 2 (By similarity).			cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)	1					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)									0.330935	305.409337	312.448891	92	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133485215	133485215	16313	3	G	C	C	C	429	33	TF	3	3
EPHB1	2047	broad.mit.edu	37	3	134670266	134670266	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:134670266G>T	uc003eqt.2	+	c.177G>T	c.(175-177)CAG>CAT	p.Q59H	EPHB1_uc010htz.1_Non-coding_Transcript|EPHB1_uc011bly.1_Missense_Mutation_p.Q59H	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	59	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18										376				0.142857	5.880104	9.32314	4	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134670266	134670266	5367	3	G	T	T	T	451	35	EPHB1	2	2
CPB1	1360	broad.mit.edu	37	3	148558510	148558510	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:148558510C>A	uc003ewl.2	+	c.310C>A	c.(310-312)CAG>AAG	p.Q104K		NM_001871	NP_001862	P15086	CBPB1_HUMAN	pancreatic carboxypeptidase B1 preproprotein	104					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)											0.245098	59.219414	65.260211	25	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148558510	148558510	3934	3	C	A	A	A	377	29	CPB1	2	2
TM4SF1	4071	broad.mit.edu	37	3	149089533	149089533	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:149089533T>A	uc003exb.1	-	c.535A>T	c.(535-537)ATT>TTT	p.I179F	TM4SF1_uc003exc.1_Missense_Mutation_p.I90F	NM_014220	NP_055035	P30408	T4S1_HUMAN	transmembrane 4 superfamily member 1	179	Helical; (Probable).					integral to plasma membrane					0			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)											0.081761	0.86464	29.171399	13	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149089533	149089533	16496	3	T	A	A	A	637	49	TM4SF1	3	3
TSC22D2	9819	broad.mit.edu	37	3	150128499	150128499	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:150128499G>T	uc003exv.2	+	c.1362G>T	c.(1360-1362)CCG>CCT	p.P454P	TSC22D2_uc003exw.2_Non-coding_Transcript|TSC22D2_uc003exx.2_Silent_p.P454P	NM_014779	NP_055594	O75157	T22D2_HUMAN	TSC22 domain family, member 2	454					regulation of transcription, DNA-dependent		sequence-specific DNA binding transcription factor activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)											0.4	12.498593	12.585862	4	6	KEEP	---	---	---	---	capture		Silent	SNP	150128499	150128499	17159	3	G	T	T	T	470	37	TSC22D2	1	1
GPR149	344758	broad.mit.edu	37	3	154055653	154055653	+	Silent	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:154055653G>C	uc003faa.2	-	c.2031C>G	c.(2029-2031)CCC>CCG	p.P677P		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	677	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)											0.06599	-9.794851	28.712332	13	184	KEEP	---	---	---	---	capture		Silent	SNP	154055653	154055653	6929	3	G	C	C	C	600	47	GPR149	3	3
BTD	686	broad.mit.edu	37	3	15677002	15677002	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:15677002C>T	uc011avv.1	+	c.122C>T	c.(121-123)GCC>GTC	p.A41V	BTD_uc003cah.2_Missense_Mutation_p.A39V|BTD_uc011avw.1_Missense_Mutation_p.A41V|BTD_uc011avx.1_Missense_Mutation_p.A19V	NM_000060	NP_000051	P43251	BTD_HUMAN	biotinidase precursor	39					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity				0														0.151786	55.456104	81.428185	34	190	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15677002	15677002	1584	3	C	T	T	T	338	26	BTD	2	2
SLC7A14	57709	broad.mit.edu	37	3	170219108	170219108	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170219108G>C	uc003fgz.2	-	c.331C>G	c.(331-333)CGA>GGA	p.R111G	CLDN11_uc011bpt.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	111						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|liver(1)|central_nervous_system(1)	4	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)											0.078431	1.468754	10.721356	4	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170219108	170219108	15193	3	G	C	C	C	480	37	SLC7A14	3	3
PLD1	5337	broad.mit.edu	37	3	171323120	171323120	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:171323120G>A	uc003fhs.2	-	c.2969C>T	c.(2968-2970)ACA>ATA	p.T990I	PLD1_uc003fht.2_Missense_Mutation_p.T952I	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	990					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)	2	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	NSCLC(149;2174 3517 34058)				595				0.109091	14.319647	39.306691	18	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171323120	171323120	12471	3	G	A	A	A	624	48	PLD1	2	2
NLGN1	22871	broad.mit.edu	37	3	173996901	173996901	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:173996901G>T	uc003fio.1	+	c.1110G>T	c.(1108-1110)CAG>CAT	p.Q370H	NLGN1_uc010hww.1_Missense_Mutation_p.Q410H|NLGN1_uc003fip.1_Missense_Mutation_p.Q370H	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	387	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of excitatory postsynaptic membrane potential|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of synaptic transmission|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	carboxylesterase activity|cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)											0.321212	134.100883	138.85298	53	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173996901	173996901	10864	3	G	T	T	T	425	33	NLGN1	2	2
ECE2	9718	broad.mit.edu	37	3	183995122	183995122	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183995122C>A	uc003fni.3	+	c.700C>A	c.(700-702)CCC>ACC	p.P234T	ECE2_uc011brg.1_Missense_Mutation_p.P162T|ECE2_uc011brh.1_Missense_Mutation_p.P87T|ECE2_uc003fnl.3_Missense_Mutation_p.P162T|ECE2_uc003fnm.3_Missense_Mutation_p.P116T|ECE2_uc003fnk.3_Missense_Mutation_p.P87T|ECE2_uc011bri.1_Missense_Mutation_p.P149T|ECE2_uc010hxv.2_5'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	234	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)	2	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)											0.26	85.492837	93.301795	39	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183995122	183995122	5077	3	C	A	A	A	286	22	ECE2	2	2
CLCN2	1181	broad.mit.edu	37	3	184076898	184076898	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184076898C>A	uc003foi.2	-	c.85G>T	c.(85-87)GAC>TAC	p.D29Y	CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.D29Y|CLCN2_uc011brl.1_Missense_Mutation_p.D29Y|CLCN2_uc011brm.1_Missense_Mutation_p.D29Y|CLCN2_uc011brn.1_Missense_Mutation_p.D29Y|POLR2H_uc003foj.1_5'Flank	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	29	Cytoplasmic (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)									0.245033	77.930041	86.858231	37	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184076898	184076898	3599	3	C	A	A	A	390	30	CLCN2	2	2
KNG1	3827	broad.mit.edu	37	3	186456894	186456894	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186456894G>T	uc011bsa.1	+	c.937G>T	c.(937-939)GCT>TCT	p.A313S	KNG1_uc003fqr.2_Missense_Mutation_p.A313S	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	313	Cystatin 3.				blood coagulation, intrinsic pathway|diuresis|elevation of cytosolic calcium ion concentration|inflammatory response|natriuresis|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding				0	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)									0.072464	-2.068526	10.90115	5	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186456894	186456894	8741	3	G	T	T	T	546	42	KNG1	2	2
CPN2	1370	broad.mit.edu	37	3	194062671	194062671	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:194062671G>T	uc003fts.2	-	c.761C>A	c.(760-762)ACG>AAG	p.T254K		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	254	LRR 7.				protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)										0.319149	41.610652	42.975555	15	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	194062671	194062671	3948	3	G	T	T	T	520	40	CPN2	1	1
FYTTD1	84248	broad.mit.edu	37	3	197495447	197495447	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:197495447C>G	uc003fyi.2	+	c.373C>G	c.(373-375)CTA>GTA	p.L125V	FYTTD1_uc011bui.1_Missense_Mutation_p.L99V|FYTTD1_uc011buj.1_Non-coding_Transcript|FYTTD1_uc011buk.1_Missense_Mutation_p.L58V	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1 isoform 1	125					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding				0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)										0.071429	0.515243	13.764244	5	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197495447	197495447	6378	3	C	G	G	G	415	32	FYTTD1	3	3
ZNF385D	79750	broad.mit.edu	37	3	21467159	21467159	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:21467159G>C	uc003cce.2	-	c.677C>G	c.(676-678)ACT>AGT	p.T226S		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	226	Matrin-type 2.					nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|ovary(1)	3														0.1	4.001438	8.796466	3	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21467159	21467159	18470	3	G	C	C	C	468	36	ZNF385D	3	3
RARB	5915	broad.mit.edu	37	3	25542753	25542753	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:25542753C>T	uc011awl.1	+	c.408C>T	c.(406-408)ACC>ACT	p.T136T	RARB_uc003cdi.1_Silent_p.T17T|RARB_uc003cdh.2_Silent_p.T129T	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	136	Nuclear receptor.|NR C4-type.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|pancreas(1)	2					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)					250				0.116667	14.258098	31.615613	14	106	KEEP	---	---	---	---	capture		Silent	SNP	25542753	25542753	13513	3	C	T	T	T	262	21	RARB	2	2
GADL1	339896	broad.mit.edu	37	3	30842529	30842529	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:30842529C>A	uc003cep.2	-	c.1102G>T	c.(1102-1104)GAT>TAT	p.D368Y	GADL1_uc003ceq.1_Missense_Mutation_p.D368Y	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	368					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)									0.102941	4.94608	15.563686	7	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30842529	30842529	6436	3	C	A	A	A	390	30	GADL1	2	2
MLH1	4292	broad.mit.edu	37	3	37042530	37042530	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:37042530G>T	uc003cgl.2	+	c.292G>T	c.(292-294)GGC>TGC	p.G98C	MLH1_uc011aye.1_5'UTR|MLH1_uc011ayb.1_5'UTR|MLH1_uc010hge.2_Missense_Mutation_p.G98C|MLH1_uc003cgn.3_5'UTR|MLH1_uc011ayc.1_Missense_Mutation_p.M1I|MLH1_uc011ayd.1_5'UTR|MLH1_uc003cgo.2_5'UTR	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	98			G -> S (associated with HNPCC2; has no effect on ex vivo splicing assay).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding			large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|skin(2)|prostate(2)|NS(1)	73								1		349				0.112903	7.676314	16.850191	7	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37042530	37042530	10007	3	G	T	T	T	611	47	MLH1	2	2
SCN5A	6331	broad.mit.edu	37	3	38608022	38608022	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38608022C>G	uc003cio.2	-	c.3718G>C	c.(3718-3720)GAG>CAG	p.E1240Q	SCN5A_uc003cin.2_Missense_Mutation_p.E1239Q|SCN5A_uc003cil.3_Missense_Mutation_p.E1240Q|SCN5A_uc010hhi.2_Missense_Mutation_p.E1240Q|SCN5A_uc010hhk.2_Missense_Mutation_p.E1239Q|SCN5A_uc011ayr.1_Missense_Mutation_p.E1186Q|SCN5A_uc010hhj.1_Missense_Mutation_p.E850Q	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1240	Helical; Name=S2 of repeat III; (Potential).		E -> Q (in BRS1).		blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.085106	7.422304	23.835747	8	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38608022	38608022	14404	3	C	G	G	G	377	29	SCN5A	3	3
TTC21A	199223	broad.mit.edu	37	3	39162666	39162667	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:39162666_39162667TG>AT	uc003cje.2	+	c.1103_1104TG>AT	c.(1102-1104)ATG>AAT	p.M368N	TTC21A_uc003cjc.2_Missense_Mutation_p.M368N|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc011ayx.1_Missense_Mutation_p.M319N	NM_001105513	NP_001098983	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 1	368							binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)										0.083333	0.930943	11.51495	5	55	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	39162666	39162667	17241	3	TG	AT	AT	AT	663	51	TTC21A	3	3
XIRP1	165904	broad.mit.edu	37	3	39227262	39227262	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:39227262G>T	uc003cjk.1	-	c.3675C>A	c.(3673-3675)ACC>ACA	p.T1225T	XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1225							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)										0.181818	11.329178	14.469269	6	27	KEEP	---	---	---	---	capture		Silent	SNP	39227262	39227262	18010	3	G	T	T	T	548	43	XIRP1	2	2
CLEC3B	7123	broad.mit.edu	37	3	45077113	45077113	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:45077113G>A	uc003cok.3	+	c.306G>A	c.(304-306)GGG>GGA	p.G102G	CLEC3B_uc003col.2_Silent_p.G60G	NM_003278	NP_003269	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	102	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GBM(139;1487 3263 30871)								0.181818	25.630673	31.853973	12	54	KEEP	---	---	---	---	capture		Silent	SNP	45077113	45077113	3649	3	G	A	A	A	548	43	CLEC3B	2	2
CDCP1	64866	broad.mit.edu	37	3	45153906	45153906	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:45153906C>A	uc003com.2	-	c.324G>T	c.(322-324)GAG>GAT	p.E108D	CDCP1_uc003con.2_Missense_Mutation_p.E108D	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	108	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)										0.10951	34.805423	87.189934	38	309	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45153906	45153906	3222	3	C	A	A	A	311	24	CDCP1	2	2
LARS2	23395	broad.mit.edu	37	3	45530212	45530212	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:45530212G>T	uc003cop.1	+	c.1147G>T	c.(1147-1149)GAC>TAC	p.D383Y	LARS2_uc010hit.1_Missense_Mutation_p.D340Y	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	383					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)									0.139241	15.466782	25.406821	11	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45530212	45530212	8958	3	G	T	T	T	533	41	LARS2	2	2
PTPN23	25930	broad.mit.edu	37	3	47453615	47453615	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:47453615C>A	uc003crf.1	+	c.4105C>A	c.(4105-4107)CGC>AGC	p.R1369S	PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Missense_Mutation_p.R1239S	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1369	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.09434	3.569485	21.10015	10	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47453615	47453615	13245	3	C	A	A	A	351	27	PTPN23	1	1
ITIH1	3697	broad.mit.edu	37	3	52817001	52817001	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52817001G>T	uc003dfs.2	+	c.959G>T	c.(958-960)GGG>GTG	p.G320V	ITIH1_uc010hmn.1_Non-coding_Transcript|ITIH1_uc003dft.2_5'Flank|ITIH1_uc010hmo.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	320	VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)										0.0625	-16.802083	24.710083	13	195	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52817001	52817001	8207	3	G	T	T	T	559	43	ITIH1	2	2
FAM19A4	151647	broad.mit.edu	37	3	68802096	68802096	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:68802096T>A	uc003dnh.1	-	c.204A>T	c.(202-204)GAA>GAT	p.E68D	FAM19A4_uc003dni.1_Missense_Mutation_p.E68D	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine	68						extracellular region					0		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)										0.410959	171.774405	172.784621	60	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68802096	68802096	5748	3	T	A	A	A	725	56	FAM19A4	3	3
DHFRL1	200895	broad.mit.edu	37	3	93780073	93780073	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:93780073C>A	uc003dri.2	-	c.283G>T	c.(283-285)GAT>TAT	p.D95Y	DHFRL1_uc003drj.2_Missense_Mutation_p.D95Y|NSUN3_uc003drk.2_5'Flank|NSUN3_uc003drl.1_5'Flank	NM_176815	NP_789785	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	95	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|oxidation-reduction process		dihydrofolate reductase activity|NADP binding				0														0.149798	57.697519	86.760728	37	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93780073	93780073	4661	3	C	A	A	A	390	30	DHFRL1	2	2
OR5K3	403277	broad.mit.edu	37	3	98109949	98109949	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98109949G>C	uc011bgw.1	+	c.440G>C	c.(439-441)GGA>GCA	p.G147A		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K,	147	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.116279	17.287095	29.747893	10	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98109949	98109949	11578	3	G	C	C	C	533	41	OR5K3	3	3
CENPE	1062	broad.mit.edu	37	4	104067249	104067249	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:104067249T>C	uc003hxb.1	-	c.4150A>G	c.(4150-4152)AGC>GGC	p.S1384G	CENPE_uc003hxc.1_Missense_Mutation_p.S1359G	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1384	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)										0.275	36.108231	37.931333	11	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104067249	104067249	3363	4	T	C	C	C	728	56	CENPE	4	4
NPNT	255743	broad.mit.edu	37	4	106863837	106863837	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:106863837G>T	uc011cfd.1	+	c.1227G>T	c.(1225-1227)CAG>CAT	p.Q409H	NPNT_uc003hya.2_Missense_Mutation_p.Q379H|NPNT_uc011cfc.1_Missense_Mutation_p.Q396H|NPNT_uc011cfe.1_Missense_Mutation_p.Q409H|NPNT_uc010ilt.1_Missense_Mutation_p.Q379H|NPNT_uc011cff.1_Missense_Mutation_p.Q379H|NPNT_uc010ilu.1_Missense_Mutation_p.Q275H	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	379					cell differentiation	membrane	calcium ion binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)										0.077922	-1.516268	12.517794	6	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106863837	106863837	10995	4	G	T	T	T	425	33	NPNT	2	2
LEF1	51176	broad.mit.edu	37	4	109004522	109004522	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:109004522G>C	uc003hyt.1	-	c.628C>G	c.(628-630)CCT>GCT	p.P210A	LEF1_uc011cfj.1_Missense_Mutation_p.P95A|LEF1_uc011cfk.1_Missense_Mutation_p.P142A|LEF1_uc003hyu.1_Missense_Mutation_p.P210A|LEF1_uc003hyv.1_Missense_Mutation_p.P210A|LEF1_uc010imb.1_Non-coding_Transcript	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	210	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of caspase activity|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of gene-specific transcription|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|promoter binding|transcription activator activity|transcription repressor activity			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)										0.235294	37.173866	40.441574	12	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109004522	109004522	9038	4	G	C	C	C	572	44	LEF1	3	3
ANK2	287	broad.mit.edu	37	4	114257011	114257011	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114257011G>T	uc003ibe.3	+	c.3389G>T	c.(3388-3390)AGC>ATC	p.S1130I	ANK2_uc003ibd.3_Missense_Mutation_p.S1121I|ANK2_uc003ibf.3_Missense_Mutation_p.S1130I|ANK2_uc011cgc.1_Missense_Mutation_p.S306I|ANK2_uc003ibg.3_Missense_Mutation_p.S125I|ANK2_uc003ibc.2_Missense_Mutation_p.S1106I|ANK2_uc011cgb.1_Missense_Mutation_p.S1145I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1097	Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.392857	61.973945	62.52397	22	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114257011	114257011	624	4	G	T	T	T	442	34	ANK2	2	2
ANK2	287	broad.mit.edu	37	4	114276714	114276714	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114276714G>T	uc003ibe.3	+	c.6940G>T	c.(6940-6942)GGC>TGC	p.G2314C	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.G2329C	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2281					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.362319	68.450111	69.603532	25	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114276714	114276714	624	4	G	T	T	T	455	35	ANK2	2	2
NDST3	9348	broad.mit.edu	37	4	119064718	119064718	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:119064718C>G	uc003ibx.2	+	c.1418C>G	c.(1417-1419)CCA>CGA	p.P473R	NDST3_uc011cgf.1_Missense_Mutation_p.P392R	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	473	Lumenal (Potential).|Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1														0.088608	1.863105	15.377837	7	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119064718	119064718	10656	4	C	G	G	G	273	21	NDST3	3	3
SYNPO2	171024	broad.mit.edu	37	4	119952640	119952640	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:119952640A>T	uc010inb.2	+	c.2710A>T	c.(2710-2712)ACT>TCT	p.T904S	SYNPO2_uc010ina.2_Missense_Mutation_p.T904S|SYNPO2_uc003icm.3_Missense_Mutation_p.T904S|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.T832S	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform a	904						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2														0.092784	5.411828	21.586003	9	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119952640	119952640	15978	4	A	T	T	T	78	6	SYNPO2	3	3
KIAA1109	84162	broad.mit.edu	37	4	123192197	123192197	+	Silent	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123192197A>T	uc003ieh.2	+	c.7518A>T	c.(7516-7518)CCA>CCT	p.P2506P	KIAA1109_uc003iel.1_Silent_p.P441P|KIAA1109_uc003iek.2_Silent_p.P1125P	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2506					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.115385	4.006465	7.794168	3	23	KEEP	---	---	---	---	capture		Silent	SNP	123192197	123192197	8516	4	A	T	T	T	67	6	KIAA1109	3	3
FAT4	79633	broad.mit.edu	37	4	126241500	126241500	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126241500A>T	uc003ifj.3	+	c.3934A>T	c.(3934-3936)ACC>TCC	p.T1312S		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1312	Cadherin 12.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.26087	90.164333	97.290823	36	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126241500	126241500	5928	4	A	T	T	T	182	14	FAT4	3	3
FAT4	79633	broad.mit.edu	37	4	126336650	126336650	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126336650G>T	uc003ifj.3	+	c.6532G>T	c.(6532-6534)GCA>TCA	p.A2178S	FAT4_uc011cgp.1_Missense_Mutation_p.A476S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2178	Cadherin 21.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.102041	10.375645	25.848967	10	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126336650	126336650	5928	4	G	T	T	T	494	38	FAT4	1	1
PCDH10	57575	broad.mit.edu	37	4	134084189	134084189	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:134084189G>T	uc003iha.2	+	c.2855G>T	c.(2854-2856)CGG>CTG	p.R952L		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	952	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(193;0.227)										0.1875	40.492219	49.271804	18	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134084189	134084189	11927	4	G	T	T	T	507	39	PCDH10	1	1
PCDH18	54510	broad.mit.edu	37	4	138453099	138453099	+	Silent	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:138453099T>A	uc003ihe.3	-	c.144A>T	c.(142-144)TCA>TCT	p.S48S	PCDH18_uc003ihf.3_Silent_p.S41S|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Intron|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	48	Extracellular (Potential).|Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)	3	all_hematologic(180;0.24)													0.304	106.901576	111.187239	38	87	KEEP	---	---	---	---	capture		Silent	SNP	138453099	138453099	11933	4	T	A	A	A	704	55	PCDH18	3	3
TBC1D9	23158	broad.mit.edu	37	4	141590959	141590959	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:141590959C>A	uc010ioj.2	-	c.1267_splice	c.e8-1	p.V423_splice		NM_015130	NP_055945			TBC1 domain family, member 9 (with GRAM domain)							intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)												0.134615	8.685616	15.425474	7	45	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	141590959	141590959	16153	4	C	A	A	A	312	24	TBC1D9	5	2
FHDC1	85462	broad.mit.edu	37	4	153896629	153896629	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:153896629G>C	uc003inf.2	+	c.2186G>C	c.(2185-2187)AGA>ACA	p.R729T		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	729					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)													0.098039	5.649815	13.883992	5	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153896629	153896629	6114	4	G	C	C	C	429	33	FHDC1	3	3
DCHS2	54798	broad.mit.edu	37	4	155249266	155249266	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155249266C>A	uc003inw.2	-	c.2632G>T	c.(2632-2634)GTT>TTT	p.V878F	DCHS2_uc003inx.2_Missense_Mutation_p.V1333F	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	878	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)										0.320755	50.155578	51.66861	17	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155249266	155249266	4459	4	C	A	A	A	260	20	DCHS2	2	2
RBM46	166863	broad.mit.edu	37	4	155749036	155749036	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155749036C>A	uc003ioo.2	+	c.1419C>A	c.(1417-1419)CGC>CGA	p.R473R	RBM46_uc011cim.1_3'UTR|RBM46_uc003iop.1_3'UTR	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	473							nucleotide binding|RNA binding			central_nervous_system(1)	1	all_hematologic(180;0.24)	Renal(120;0.0854)												0.221239	56.828686	64.901509	25	88	KEEP	---	---	---	---	capture		Silent	SNP	155749036	155749036	13602	4	C	A	A	A	314	25	RBM46	2	2
GRIA2	2891	broad.mit.edu	37	4	158257624	158257624	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:158257624C>T	uc003ipm.3	+	c.1569C>T	c.(1567-1569)ATC>ATT	p.I523I	GRIA2_uc011cit.1_Silent_p.I476I|GRIA2_uc003ipl.3_Silent_p.I523I|GRIA2_uc003ipk.3_Silent_p.I476I|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	523	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)									0.0625	-11.985702	19.942221	10	150	KEEP	---	---	---	---	capture		Silent	SNP	158257624	158257624	7046	4	C	T	T	T	369	29	GRIA2	2	2
FNIP2	57600	broad.mit.edu	37	4	159772515	159772515	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:159772515G>A	uc003iqe.3	+	c.770G>A	c.(769-771)AGC>AAC	p.S257N		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	257	Ser-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)										0.182266	144.579647	183.106538	74	332	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159772515	159772515	6218	4	G	A	A	A	442	34	FNIP2	2	2
PROM1	8842	broad.mit.edu	37	4	16010666	16010666	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:16010666G>T	uc003goo.2	-	c.1207C>A	c.(1207-1209)CAG>AAG	p.Q403K	PROM1_uc003gor.2_Missense_Mutation_p.Q403K|PROM1_uc003gos.2_Missense_Mutation_p.Q394K|PROM1_uc003got.2_Missense_Mutation_p.Q403K|PROM1_uc003gou.2_Missense_Mutation_p.Q394K|PROM1_uc003gop.2_Missense_Mutation_p.Q394K|PROM1_uc003goq.3_Missense_Mutation_p.Q394K|PROM1_uc010iec.1_Missense_Mutation_p.Q281K	NM_006017	NP_006008	O43490	PROM1_HUMAN	prominin 1 isoform 1	403	Extracellular (Potential).				camera-type eye photoreceptor cell differentiation|response to stimulus|retina layer formation|visual perception	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment|plasma membrane				ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7														0.184211	12.698715	16.258034	7	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16010666	16010666	12998	4	G	T	T	T	585	45	PROM1	2	2
FSTL5	56884	broad.mit.edu	37	4	162307436	162307436	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:162307436G>T	uc003iqh.2	-	c.2007C>A	c.(2005-2007)AGC>AGA	p.S669R	FSTL5_uc003iqi.2_Missense_Mutation_p.S668R|FSTL5_uc010iqv.2_Missense_Mutation_p.S659R	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	669						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|large_intestine(1)|central_nervous_system(1)	6	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)										0.3125	24.543588	25.542448	10	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162307436	162307436	6331	4	G	T	T	T	594	46	FSTL5	2	2
SC4MOL	6307	broad.mit.edu	37	4	166261514	166261514	+	Missense_Mutation	SNP	A	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:166261514A>C	uc003ire.2	+	c.673A>C	c.(673-675)ATT>CTT	p.I225L	SC4MOL_uc010irb.2_Missense_Mutation_p.I225L|SC4MOL_uc003irf.2_Missense_Mutation_p.I94L	NM_006745	NP_006736	Q15800	ERG25_HUMAN	sterol-C4-methyl oxidase-like isoform 1	225					cholesterol biosynthetic process|fatty acid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding				0	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0875)	NADH(DB00157)									0.069444	0.221473	14.001472	5	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166261514	166261514	14346	4	A	C	C	C	208	16	SC4MOL	4	4
CPE	1363	broad.mit.edu	37	4	166385677	166385677	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:166385677G>C	uc003irg.3	+	c.443G>C	c.(442-444)AGT>ACT	p.S148T		NM_001873	NP_001864	P16870	CBPE_HUMAN	carboxypeptidase E preproprotein	148					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)							OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.113208	10.010516	17.834545	6	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166385677	166385677	3937	4	G	C	C	C	468	36	CPE	3	3
CPE	1363	broad.mit.edu	37	4	166405728	166405728	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:166405728C>A	uc003irg.3	+	c.945C>A	c.(943-945)AAC>AAA	p.N315K		NM_001873	NP_001864	P16870	CBPE_HUMAN	carboxypeptidase E preproprotein	315					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.100244	39.702091	104.945463	41	368	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166405728	166405728	3937	4	C	A	A	A	246	19	CPE	1	1
NEK1	4750	broad.mit.edu	37	4	170498205	170498205	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:170498205G>A	uc003isd.1	-	c.894C>T	c.(892-894)AAC>AAT	p.N298N	NEK1_uc003isb.1_Silent_p.N298N|NEK1_uc003isc.1_Silent_p.N298N|NEK1_uc003ise.1_Silent_p.N298N|NEK1_uc003isf.1_Silent_p.N298N|NEK1_uc003isg.1_Silent_p.N219N	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	298					cell division|cilium assembly|mitosis|protein phosphorylation	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)						366				0.093023	2.464493	9.630976	4	39	KEEP	---	---	---	---	capture		Silent	SNP	170498205	170498205	10720	4	G	A	A	A	464	36	NEK1	2	2
GALNTL6	442117	broad.mit.edu	37	4	172735859	172735859	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:172735859G>T	uc003isv.2	+	c.128G>T	c.(127-129)GGG>GTG	p.G43V		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	43	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)	3														0.072727	-4.272414	16.376696	8	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172735859	172735859	6489	4	G	T	T	T	559	43	GALNTL6	2	2
GALNTL6	442117	broad.mit.edu	37	4	173730517	173730517	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:173730517C>A	uc003isv.2	+	c.559C>A	c.(559-561)CTG>ATG	p.L187M		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	187	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)	3														0.057143	-8.543751	13.079856	6	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173730517	173730517	6489	4	C	A	A	A	311	24	GALNTL6	2	2
HAND2	9464	broad.mit.edu	37	4	174450170	174450170	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:174450170C>A	uc010ire.1	-	c.271G>T	c.(271-273)GGC>TGC	p.G91C	NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Intron|HAND2_uc003ith.1_Missense_Mutation_p.G91C	NM_021973	NP_068808	P61296	HAND2_HUMAN	basic helix-loop-helix transcription factor	91					adult heart development|angiogenesis|apoptosis|heart looping|in utero embryonic development|neural crest cell development|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	activating transcription factor binding|protein homodimerization activity|transcription activator activity|transcription coactivator activity				0		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)										0.151515	7.651316	11.491854	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	174450170	174450170	7232	4	C	A	A	A	286	22	HAND2	2	2
SNX25	83891	broad.mit.edu	37	4	186180179	186180179	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:186180179T>C	uc003ixh.2	+	c.200T>C	c.(199-201)TTA>TCA	p.L67S		NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	67	PXA.				cell communication|protein transport		phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)										0.169643	48.962515	60.521601	19	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186180179	186180179	15396	4	T	C	C	C	793	61	SNX25	4	4
KLKB1	3818	broad.mit.edu	37	4	187178397	187178397	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187178397C>T	uc003iyy.2	+	c.1603C>T	c.(1603-1605)CTA>TTA	p.L535L	KLKB1_uc011clc.1_Silent_p.L333L|KLKB1_uc011cld.1_Intron	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	535	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)										0.078947	-0.814203	12.951836	6	70	KEEP	---	---	---	---	capture		Silent	SNP	187178397	187178397	8726	4	C	T	T	T	415	32	KLKB1	2	2
TRIML1	339976	broad.mit.edu	37	4	189061091	189061091	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:189061091C>A	uc003izm.1	+	c.379C>A	c.(379-381)CTC>ATC	p.L127I		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	127					multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|breast(1)|pancreas(1)	3		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		Melanoma(31;213 1036 16579 23968 32372)								0.270588	53.876756	57.920221	23	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189061091	189061091	17100	4	C	A	A	A	416	32	TRIML1	2	2
GRK4	2868	broad.mit.edu	37	4	3029638	3029639	+	Splice_Site_DNP	DNP	GG	TT	TT			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:3029638_3029639GG>TT	uc003ggn.1	+	c.971_splice	c.e11-1	p.G324_splice	GRK4_uc003ggo.1_Splice_Site_DNP_p.G324_splice|GRK4_uc003ggp.1_Splice_Site_DNP_p.G292_splice|GRK4_uc003ggq.1_Splice_Site_DNP_p.G292_splice	NM_182982	NP_892027			G protein-coupled receptor kinase 4 isoform							cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)						1452				0.141844	30.396497	47.847478	20	121	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	3029638	3029639	7070	4	GG	TT	TT	TT	455	35	GRK4	5	2
PCDH7	5099	broad.mit.edu	37	4	30724540	30724540	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:30724540G>A	uc011bxx.1	+	c.1496G>A	c.(1495-1497)CGG>CAG	p.R499Q	PCDH7_uc011bxw.1_Missense_Mutation_p.R452Q|PCDH7_uc003gsk.1_Missense_Mutation_p.R499Q	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	499	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4														0.108108	6.64164	17.935569	8	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30724540	30724540	11936	4	G	A	A	A	507	39	PCDH7	1	1
TBC1D1	23216	broad.mit.edu	37	4	38037262	38037262	+	Silent	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:38037262G>C	uc003gtb.2	+	c.1356G>C	c.(1354-1356)CTG>CTC	p.L452L	TBC1D1_uc011byd.1_Silent_p.L452L|TBC1D1_uc010ifd.2_Silent_p.L199L|TBC1D1_uc011byf.1_Silent_p.L323L	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	452						nucleus	Rab GTPase activator activity			ovary(1)	1														0.184211	39.302737	46.412764	14	62	KEEP	---	---	---	---	capture		Silent	SNP	38037262	38037262	16119	4	G	C	C	C	574	45	TBC1D1	3	3
CENPC1	1060	broad.mit.edu	37	4	68374686	68374686	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:68374686C>G	uc003hdd.1	-	c.1750G>C	c.(1750-1752)GCA>CCA	p.A584P	CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.A584P	NM_001812	NP_001803	Q03188	CENPC_HUMAN	centromere protein C 1	584					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			urinary_tract(1)|lung(1)	2														0.253333	58.688497	62.831001	19	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68374686	68374686	3362	4	C	G	G	G	364	28	CENPC1	3	3
UBA6	55236	broad.mit.edu	37	4	68512442	68512442	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:68512442C>G	uc003hdg.3	-	c.1316G>C	c.(1315-1317)CGA>CCA	p.R439P	UBA6_uc003hdh.1_5'UTR	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	439					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0														0.223881	39.089161	43.784733	15	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68512442	68512442	17389	4	C	G	G	G	299	23	UBA6	3	3
UGT2B4	7363	broad.mit.edu	37	4	70346519	70346519	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70346519T>C	uc003hek.3	-	c.1420A>G	c.(1420-1422)AAG>GAG	p.K474E	UGT2B4_uc011cap.1_Missense_Mutation_p.K338E|UGT2B4_uc003hel.3_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	474					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0														0.090476	6.870799	42.39169	19	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70346519	70346519	17519	4	T	C	C	C	819	63	UGT2B4	4	4
UGT2B4	7363	broad.mit.edu	37	4	70346553	70346553	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70346553G>T	uc003hek.3	-	c.1386C>A	c.(1384-1386)TTC>TTA	p.F462L	UGT2B4_uc011cap.1_Missense_Mutation_p.F326L|UGT2B4_uc003hel.3_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	462					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0														0.097436	7.87189	39.535422	19	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70346553	70346553	17519	4	G	T	T	T	425	33	UGT2B4	2	2
ADAMTS3	9508	broad.mit.edu	37	4	73414200	73414200	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:73414200C>T	uc003hgk.1	-	c.499G>A	c.(499-501)GGT>AGT	p.G167S		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	167					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			NSCLC(168;1941 2048 2918 13048 43078)								0.206349	33.137985	38.174815	13	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73414200	73414200	268	4	C	T	T	T	273	21	ADAMTS3	2	2
PPEF2	5470	broad.mit.edu	37	4	76781891	76781891	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:76781891C>G	uc003hix.2	-	c.2191G>C	c.(2191-2193)GGC>CGC	p.G731R	PPEF2_uc003hiy.2_Non-coding_Transcript	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	731					detection of stimulus involved in sensory perception|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			NSCLC(105;1359 1603 15961 44567 47947)								0.102564	6.938632	19.219258	8	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76781891	76781891	12738	4	C	G	G	G	286	22	PPEF2	3	3
SHROOM3	57619	broad.mit.edu	37	4	77661931	77661931	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:77661931G>A	uc011cbx.1	+	c.2605G>A	c.(2605-2607)GGA>AGA	p.G869R	SHROOM3_uc011cbz.1_Missense_Mutation_p.G693R|SHROOM3_uc003hkf.1_Missense_Mutation_p.G744R|SHROOM3_uc003hkg.2_Missense_Mutation_p.G647R	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	869					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			ovary(1)	1			Lung(101;0.0903)											0.344828	58.986415	60.217862	20	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77661931	77661931	14790	4	G	A	A	A	507	39	SHROOM3	1	1
AFAP1	60312	broad.mit.edu	37	4	7795473	7795473	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:7795473C>A	uc011bwk.1	-	c.1347G>T	c.(1345-1347)CTG>CTT	p.L449L	AFAP1_uc003gkg.1_Silent_p.L449L	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	actin filament associated protein 1 isoform a	449						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0														0.178082	78.48816	99.860822	39	180	KEEP	---	---	---	---	capture		Silent	SNP	7795473	7795473	354	4	C	A	A	A	314	25	AFAP1	2	2
BMP3	651	broad.mit.edu	37	4	81974563	81974563	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:81974563G>C	uc003hmg.3	+	c.1292G>C	c.(1291-1293)GGG>GCG	p.G431A		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	431					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5														0.2	35.909624	41.768711	14	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81974563	81974563	1486	4	G	C	C	C	559	43	BMP3	3	3
WDFY3	23001	broad.mit.edu	37	4	85617181	85617181	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:85617181G>A	uc003hpd.2	-	c.8843C>T	c.(8842-8844)CCA>CTA	p.P2948L	WDFY3_uc003hpe.1_Missense_Mutation_p.P559L	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2948	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)										0.351648	88.36583	90.1353	32	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85617181	85617181	17842	4	G	A	A	A	611	47	WDFY3	2	2
MAPK10	5602	broad.mit.edu	37	4	87022299	87022299	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:87022299C>A	uc003hpq.2	-	c.636G>T	c.(634-636)AGG>AGT	p.R212S	MAPK10_uc010ikg.2_Missense_Mutation_p.R174S|MAPK10_uc003hpr.2_Missense_Mutation_p.R174S|MAPK10_uc003hps.2_Missense_Mutation_p.R212S|MAPK10_uc003hpt.2_Missense_Mutation_p.R212S|MAPK10_uc003hpu.2_Missense_Mutation_p.R212S|MAPK10_uc003hpv.2_Missense_Mutation_p.R67S|MAPK10_uc003hpn.2_5'Flank|MAPK10_uc003hpo.2_Missense_Mutation_p.R67S|MAPK10_uc011ccw.1_Missense_Mutation_p.R98S|MAPK10_uc003hpp.2_Missense_Mutation_p.R67S	NM_138982	NP_620448	P53779	MK10_HUMAN	mitogen-activated protein kinase 10 isoform 2	212	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)						300				0.122449	5.474015	12.265991	6	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87022299	87022299	9655	4	C	A	A	A	389	30	MAPK10	2	2
GRID2	2895	broad.mit.edu	37	4	94344041	94344041	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:94344041C>A	uc011cdt.1	+	c.1467C>A	c.(1465-1467)TAC>TAA	p.Y489*	GRID2_uc011cdu.1_Nonsense_Mutation_p.Y394*	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	489	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|large_intestine(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)									0.3	63.849763	66.350051	21	49	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	94344041	94344041	7050	4	C	A	A	A	246	19	GRID2	5	1
PPIP5K2	23262	broad.mit.edu	37	5	102503828	102503828	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:102503828C>A	uc003kod.3	+	c.2115C>A	c.(2113-2115)TCC>TCA	p.S705S	PPIP5K2_uc011cva.1_Non-coding_Transcript|PPIP5K2_uc003koe.2_Silent_p.S705S|PPIP5K2_uc003kof.2_Silent_p.S6S	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	705					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)	1														0.136364	3.708179	6.527999	3	19	KEEP	---	---	---	---	capture		Silent	SNP	102503828	102503828	12768	5	C	A	A	A	262	21	PPIP5K2	2	2
MARCH6	10299	broad.mit.edu	37	5	10403613	10403613	+	Missense_Mutation	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:10403613A>G	uc003jet.1	+	c.1292A>G	c.(1291-1293)TAT>TGT	p.Y431C	MARCH6_uc011cmu.1_Missense_Mutation_p.Y383C|MARCH6_uc003jeu.1_Missense_Mutation_p.Y129C|MARCH6_uc011cmv.1_Missense_Mutation_p.Y326C	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	431	Helical; (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding				0														0.068182	-0.971105	15.955853	6	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10403613	10403613	9688	5	A	G	G	G	208	16	MARCH6	4	4
SLC12A7	10723	broad.mit.edu	37	5	1094281	1094281	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:1094281C>A	uc003jbu.2	-	c.207G>T	c.(205-207)ATG>ATT	p.M69I		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	69	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			large_intestine(1)	1	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)									0.074074	-8.131984	42.21065	20	250	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1094281	1094281	14883	5	C	A	A	A	273	21	SLC12A7	2	2
CTNND2	1501	broad.mit.edu	37	5	11346597	11346597	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11346597C>A	uc003jfa.1	-	c.1515G>T	c.(1513-1515)CAG>CAT	p.Q505H	CTNND2_uc010itt.2_Missense_Mutation_p.Q414H|CTNND2_uc011cmy.1_Missense_Mutation_p.Q168H|CTNND2_uc011cmz.1_Missense_Mutation_p.Q72H|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.Q72H	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	505					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7														0.09292	5.205818	42.916985	21	205	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11346597	11346597	4179	5	C	A	A	A	363	28	CTNND2	2	2
PGGT1B	5229	broad.mit.edu	37	5	114598499	114598499	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:114598499C>A	uc003kqw.3	-	c.50G>T	c.(49-51)CGG>CTG	p.R17L	PGGT1B_uc003kqx.3_5'UTR|PGGT1B_uc010jch.2_Missense_Mutation_p.R17L	NM_005023	NP_005014	P53609	PGTB1_HUMAN	geranylgeranyltransferase type 1 beta	17					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity				0		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)					141				0.106383	3.75109	10.973531	5	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114598499	114598499	12212	5	C	A	A	A	299	23	PGGT1B	1	1
HSD17B4	3295	broad.mit.edu	37	5	118814643	118814643	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118814643G>A	uc003ksj.2	+	c.549G>A	c.(547-549)AGG>AGA	p.R183R	HSD17B4_uc011cwg.1_Silent_p.R159R|HSD17B4_uc011cwh.1_Silent_p.R165R|HSD17B4_uc011cwi.1_Silent_p.R208R|HSD17B4_uc003ksk.3_Silent_p.R36R|HSD17B4_uc011cwj.1_Silent_p.R36R|HSD17B4_uc010jcn.1_5'UTR	NM_000414	NP_000405	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	183	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			ovary(1)|pancreas(1)	2		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	Colon(35;490 801 34689 41394 43344)								0.152542	30.664143	44.311823	18	100	KEEP	---	---	---	---	capture		Silent	SNP	118814643	118814643	7681	5	G	A	A	A	529	41	HSD17B4	2	2
CTXN3	613212	broad.mit.edu	37	5	126993374	126993374	+	Missense_Mutation	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126993374A>G	uc003kul.3	+	c.161A>G	c.(160-162)GAT>GGT	p.D54G	CTXN3_uc003kum.3_Missense_Mutation_p.D54G	NM_001048252	NP_001041717	Q4LDR2	CTXN3_HUMAN	cortexin 3	54						integral to membrane					0		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)										0.084507	1.69704	14.13939	6	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126993374	126993374	4210	5	A	G	G	G	156	12	CTXN3	4	4
FBN2	2201	broad.mit.edu	37	5	127730962	127730962	+	Nonsense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127730962T>A	uc003kuu.2	-	c.1084A>T	c.(1084-1086)AGA>TGA	p.R362*	FBN2_uc003kuv.2_Nonsense_Mutation_p.R329*	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	362					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)|kidney(1)|pancreas(1)	14		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)						1552				0.162791	12.809435	17.447862	7	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	127730962	127730962	5939	5	T	A	A	A	700	54	FBN2	5	3
CHSY3	337876	broad.mit.edu	37	5	129521374	129521374	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:129521374T>C	uc003kvd.2	+	c.2539T>C	c.(2539-2541)TAT>CAT	p.Y847H		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	847	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)										0.259259	46.13111	48.961214	14	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129521374	129521374	3547	5	T	C	C	C	741	57	CHSY3	4	4
PITX1	5307	broad.mit.edu	37	5	134364843	134364843	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:134364843G>T	uc010jea.2	-	c.571C>A	c.(571-573)CCA>ACA	p.P191T	PITX1_uc011cxy.1_Missense_Mutation_p.P191T	NM_002653	NP_002644	P78337	PITX1_HUMAN	paired-like homeodomain transcription factor 1	191	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding|transcription regulator activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)										0.23913	45.021917	50.731829	22	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134364843	134364843	12378	5	G	T	T	T	546	42	PITX1	2	2
FAM13B	51306	broad.mit.edu	37	5	137354124	137354124	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137354124G>A	uc003lbz.2	-	c.237C>T	c.(235-237)AGC>AGT	p.S79S	FAM13B_uc003lcb.2_5'UTR|FAM13B_uc003lca.2_Silent_p.S79S	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	79	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0														0.113924	9.645645	21.235378	9	70	KEEP	---	---	---	---	capture		Silent	SNP	137354124	137354124	5650	5	G	A	A	A	490	38	FAM13B	1	1
DNAH5	1767	broad.mit.edu	37	5	13751281	13751281	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:13751281T>A	uc003jfd.2	-	c.11117A>T	c.(11116-11118)GAG>GTG	p.E3706V	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3706	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.074766	-2.976503	16.875058	8	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13751281	13751281	4787	5	T	A	A	A	702	54	DNAH5	3	3
KDM3B	51780	broad.mit.edu	37	5	137726954	137726954	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137726954G>C	uc003lcy.1	+	c.1633G>C	c.(1633-1635)GAG>CAG	p.E545Q	KDM3B_uc010jew.1_Missense_Mutation_p.E201Q|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	545					chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|lung(2)|kidney(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9														0.09434	6.43194	15.194152	5	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137726954	137726954	8433	5	G	C	C	C	429	33	KDM3B	3	3
HARS2	23438	broad.mit.edu	37	5	140076891	140076891	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140076891G>T	uc003lgx.2	+	c.1097G>T	c.(1096-1098)GGG>GTG	p.G366V	HARS2_uc011czr.1_Missense_Mutation_p.G341V|HARS2_uc011czs.1_Missense_Mutation_p.G222V|HARS2_uc011czt.1_Missense_Mutation_p.G194V|HARS2_uc011czu.1_Missense_Mutation_p.G192V	NM_012208	NP_036340	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2 precursor	366					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.09589	0.068422	12.062055	7	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140076891	140076891	7242	5	G	T	T	T	559	43	HARS2	2	2
PCDHA6	56142	broad.mit.edu	37	5	140209546	140209546	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140209546G>A	uc003lho.2	+	c.1870G>A	c.(1870-1872)GTG>ATG	p.V624M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.V624M	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	624	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.158621	39.877326	55.950031	23	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140209546	140209546	11948	5	G	A	A	A	520	40	PCDHA6	1	1
PCDHA12	56137	broad.mit.edu	37	5	140255544	140255544	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140255544G>T	uc003lic.2	+	c.487G>T	c.(487-489)GGC>TGC	p.G163C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.G163C	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	163	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Pancreas(113;759 1672 13322 24104 50104)								0.169231	44.765677	58.232322	22	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140255544	140255544	11942	5	G	T	T	T	507	39	PCDHA12	1	1
PCDHA12	56137	broad.mit.edu	37	5	140256217	140256217	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140256217G>T	uc003lic.2	+	c.1160G>T	c.(1159-1161)TGC>TTC	p.C387F	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.C387F	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	387	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Pancreas(113;759 1672 13322 24104 50104)								0.177686	84.08716	107.76099	43	199	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140256217	140256217	11942	5	G	T	T	T	598	46	PCDHA12	2	2
PCDHB3	56132	broad.mit.edu	37	5	140481294	140481294	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140481294G>C	uc003lio.2	+	c.1061G>C	c.(1060-1062)AGC>ACC	p.S354T		NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	354	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.181818	46.38904	55.804159	18	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140481294	140481294	11963	5	G	C	C	C	442	34	PCDHB3	3	3
PCDHB3	56132	broad.mit.edu	37	5	140481566	140481566	+	Missense_Mutation	SNP	A	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140481566A>C	uc003lio.2	+	c.1333A>C	c.(1333-1335)AAT>CAT	p.N445H		NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	445	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.123223	44.82132	74.107307	26	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140481566	140481566	11963	5	A	C	C	C	65	5	PCDHB3	4	4
PCDHB3	56132	broad.mit.edu	37	5	140481802	140481802	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140481802C>A	uc003lio.2	+	c.1569C>A	c.(1567-1569)GCC>GCA	p.A523A		NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	523	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.232704	82.586694	92.995636	37	122	KEEP	---	---	---	---	capture		Silent	SNP	140481802	140481802	11963	5	C	A	A	A	275	22	PCDHB3	2	2
PCDHB5	26167	broad.mit.edu	37	5	140516349	140516349	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140516349G>T	uc003liq.2	+	c.1333G>T	c.(1333-1335)GAC>TAC	p.D445Y		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	445	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.13308	42.439418	76.850792	35	228	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140516349	140516349	11965	5	G	T	T	T	585	45	PCDHB5	2	2
PCDHB16	57717	broad.mit.edu	37	5	140563749	140563749	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140563749C>A	uc003liv.2	+	c.1615C>A	c.(1615-1617)CCG>ACG	p.P539T		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	539	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.07767	-4.288572	14.519461	8	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140563749	140563749	11961	5	C	A	A	A	286	22	PCDHB16	2	2
PCDHB12	56124	broad.mit.edu	37	5	140590632	140590632	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140590632G>T	uc003liz.2	+	c.2153G>T	c.(2152-2154)AGG>ATG	p.R718M	PCDHB12_uc011dak.1_Missense_Mutation_p.R381M|PCDHB13_uc003lja.1_5'Flank	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	718	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.112195	22.038484	52.440871	23	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140590632	140590632	11957	5	G	T	T	T	455	35	PCDHB12	2	2
PCDHB13	56123	broad.mit.edu	37	5	140595759	140595759	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140595759C>A	uc003lja.1	+	c.2064C>A	c.(2062-2064)GTC>GTA	p.V688V		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	688	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.191919	106.287618	132.642308	57	240	KEEP	---	---	---	---	capture		Silent	SNP	140595759	140595759	11958	5	C	A	A	A	405	32	PCDHB13	2	2
PCDHB15	56121	broad.mit.edu	37	5	140627002	140627002	+	Missense_Mutation	SNP	C	A	A	rs17844634		TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140627002C>A	uc003lje.2	+	c.1856C>A	c.(1855-1857)GCG>GAG	p.A619E		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	619	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.229885	48.060327	53.876029	20	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140627002	140627002	11960	5	C	A	A	A	351	27	PCDHB15	1	1
PCDHGA1	56114	broad.mit.edu	37	5	140710390	140710390	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140710390A>T	uc003lji.1	+	c.139A>T	c.(139-141)AAC>TAC	p.N47Y	PCDHGA1_uc011dan.1_Missense_Mutation_p.N47Y	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	47	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.152284	55.427244	78.221056	30	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140710390	140710390	11970	5	A	T	T	T	65	5	PCDHGA1	3	3
PCDHGA4	56111	broad.mit.edu	37	5	140735713	140735713	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140735713G>A	uc003ljq.1	+	c.946G>A	c.(946-948)GAC>AAC	p.D316N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.D316N	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	316	Cadherin 3.|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)											0.088889	1.162246	8.849175	4	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140735713	140735713	11976	5	G	A	A	A	585	45	PCDHGA4	2	2
PCDHGA5	56110	broad.mit.edu	37	5	140745823	140745823	+	Silent	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140745823C>G	uc003lju.1	+	c.1926C>G	c.(1924-1926)CTC>CTG	p.L642L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.L642L	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	642	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.157676	90.095042	117.038474	38	203	KEEP	---	---	---	---	capture		Silent	SNP	140745823	140745823	11977	5	C	G	G	G	392	31	PCDHGA5	3	3
PCDHGA12	26025	broad.mit.edu	37	5	140812312	140812312	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140812312G>T	uc003lkt.1	+	c.1986G>T	c.(1984-1986)GTG>GTT	p.V662V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.V662V	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	662	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.25	74.094158	81.121037	31	93	KEEP	---	---	---	---	capture		Silent	SNP	140812312	140812312	11973	5	G	T	T	T	600	47	PCDHGA12	2	2
SPRY4	81848	broad.mit.edu	37	5	141693977	141693977	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:141693977C>A	uc010jgi.1	-	c.766G>T	c.(766-768)GCC>TCC	p.A256S	SPRY4_uc003lml.2_Missense_Mutation_p.A233S	NM_030964	NP_112226	Q9C004	SPY4_HUMAN	sprouty homolog 4 isoform 1	233	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			ovary(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.111111	4.779032	10.156783	4	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141693977	141693977	15622	5	C	A	A	A	351	27	SPRY4	1	1
DPYSL3	1809	broad.mit.edu	37	5	146788307	146788307	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:146788307A>T	uc003loo.2	-	c.1016T>A	c.(1015-1017)CTG>CAG	p.L339Q	DPYSL3_uc003lon.1_Missense_Mutation_p.L225Q	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	225					axon guidance|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.161905	34.806679	46.221649	17	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146788307	146788307	4932	5	A	T	T	T	91	7	DPYSL3	3	3
SPINK13	153218	broad.mit.edu	37	5	147661762	147661762	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:147661762C>G	uc003lpc.2	+	c.204C>G	c.(202-204)TTC>TTG	p.F68L	SPINK13_uc010jgt.2_Non-coding_Transcript	NM_001040129	NP_001035218	Q1W4C9	ISK13_HUMAN	serine PI Kazal type 5-like 3 precursor	68	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity				0														0.174757	46.684745	56.962907	18	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147661762	147661762	15570	5	C	G	G	G	389	30	SPINK13	3	3
SH3TC2	79628	broad.mit.edu	37	5	148427439	148427439	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148427439G>A	uc003lpu.2	-	c.265C>T	c.(265-267)CGC>TGC	p.R89C	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.R89C|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_Missense_Mutation_p.R89C	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	89							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.127517	25.43224	45.580597	19	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148427439	148427439	14754	5	G	A	A	A	494	38	SH3TC2	1	1
SLC36A1	206358	broad.mit.edu	37	5	150856211	150856211	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150856211G>C	uc003luc.2	+	c.883G>C	c.(883-885)GGC>CGC	p.G295R	GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.G295R|SLC36A1_uc010jhw.1_Missense_Mutation_p.G295R	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	295	Helical; Name=7; (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity				0		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	Melanoma(151;1534 1860 12947 32979 37872)								0.180328	44.755261	56.519709	22	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150856211	150856211	15090	5	G	C	C	C	559	43	SLC36A1	3	3
FAT2	2196	broad.mit.edu	37	5	150905354	150905354	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150905354T>A	uc003lue.3	-	c.10481A>T	c.(10480-10482)CAG>CTG	p.Q3494L	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.Q187L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3494	Extracellular (Potential).|Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)	4		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.204819	37.835345	44.540689	17	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150905354	150905354	5926	5	T	A	A	A	715	55	FAT2	3	3
FAM114A2	10827	broad.mit.edu	37	5	153381950	153381950	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:153381950C>G	uc003lvb.2	-	c.1117G>C	c.(1117-1119)GAT>CAT	p.D373H	FAM114A2_uc003lvc.2_Missense_Mutation_p.D373H|FAM114A2_uc003lvd.2_Missense_Mutation_p.D373H|FAM114A2_uc003lve.2_Missense_Mutation_p.D189H|FAM114A2_uc011dda.1_Missense_Mutation_p.D303H	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	373							purine nucleotide binding				0														0.125	13.284522	20.977619	7	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153381950	153381950	5601	5	C	G	G	G	390	30	FAM114A2	3	3
KIF4B	285643	broad.mit.edu	37	5	154396417	154396417	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:154396417G>T	uc010jih.1	+	c.2998G>T	c.(2998-3000)GCC>TCC	p.A1000S		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1000	Interaction with PRC1 (By similarity).|Globular (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)											0.15444	65.802437	95.41475	40	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154396417	154396417	8615	5	G	T	T	T	442	34	KIF4B	2	2
TIMD4	91937	broad.mit.edu	37	5	156346473	156346474	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156346473_156346474GG>AA	uc003lwh.2	-	c.1131_1132CC>TT	c.(1129-1134)ACCCTC>ACTTTC	p.L378F	TIMD4_uc010jii.2_Missense_Mutation_p.L350F|TIMD4_uc003lwg.2_Missense_Mutation_p.L80F	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	378	Cytoplasmic (Potential).					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.106383	10.578761	25.040822	10	84	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	156346473	156346474	16432	5	GG	AA	AA	AA	455	35	TIMD4	2	2
HAVCR1	26762	broad.mit.edu	37	5	156479505	156479505	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156479505C>A	uc010jij.1	-	c.540G>T	c.(538-540)ACG>ACT	p.T180T	HAVCR1_uc011ddl.1_Silent_p.T11T|HAVCR1_uc003lwi.2_Silent_p.T180T|HAVCR1_uc011ddm.1_Silent_p.T180T	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	175	7.|Extracellular (Potential).|11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.141714	193.92898	302.271194	124	751	KEEP	---	---	---	---	capture		Silent	SNP	156479505	156479505	7255	5	C	A	A	A	392	31	HAVCR1	1	1
NIPAL4	348938	broad.mit.edu	37	5	156895765	156895765	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156895765G>T	uc003lwx.3	+	c.556G>T	c.(556-558)GCA>TCA	p.A186S	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.A167S|NIPAL4_uc010jin.1_3'UTR	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	186	Extracellular (Potential).					integral to membrane	receptor activity				0														0.142857	28.984671	44.45735	18	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156895765	156895765	10828	5	G	T	T	T	494	38	NIPAL4	1	1
THG1L	54974	broad.mit.edu	37	5	157164919	157164919	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:157164919G>C	uc003lxd.2	+	c.652G>C	c.(652-654)GAG>CAG	p.E218Q	THG1L_uc011ddu.1_Missense_Mutation_p.E86Q	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	interphase cytoplasmic foci protein 45	218					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.112069	20.285141	37.532968	13	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157164919	157164919	16389	5	G	C	C	C	585	45	THG1L	3	3
ATP10B	23120	broad.mit.edu	37	5	160029653	160029653	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:160029653C>A	uc003lym.1	-	c.3294G>T	c.(3292-3294)CTG>CTT	p.L1098L	ATP10B_uc010jit.1_Silent_p.L415L	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1098	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.222222	25.665029	29.50473	12	42	KEEP	---	---	---	---	capture		Silent	SNP	160029653	160029653	1136	5	C	A	A	A	314	25	ATP10B	2	2
ATP10B	23120	broad.mit.edu	37	5	160059375	160059375	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:160059375C>A	uc003lym.1	-	c.1382_splice	c.e13-1	p.A461_splice	ATP10B_uc003lyn.2_Splice_Site_SNP_p.A19_splice	NM_025153	NP_079429			ATPase, class V, type 10B						ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.146341	29.262222	44.055381	18	105	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	160059375	160059375	1136	5	C	A	A	A	364	28	ATP10B	5	2
GABRA6	2559	broad.mit.edu	37	5	161128727	161128727	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:161128727G>T	uc003lyu.2	+	c.1310G>T	c.(1309-1311)TGG>TTG	p.W437L	GABRA6_uc003lyv.2_Missense_Mutation_p.W208L	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	437	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|large_intestine(1)|central_nervous_system(1)	9	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						TCGA Ovarian(5;0.080)			0.290323	49.623259	52.066641	18	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161128727	161128727	6416	5	G	T	T	T	611	47	GABRA6	2	2
HMMR	3161	broad.mit.edu	37	5	162900540	162900540	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:162900540G>T	uc003lzh.2	+	c.881G>T	c.(880-882)TGT>TTT	p.C294F	HMMR_uc003lzf.2_Missense_Mutation_p.C293F|HMMR_uc003lzg.2_Missense_Mutation_p.C278F|HMMR_uc011dem.1_Missense_Mutation_p.C207F	NM_001142556	NP_001136028	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor isoform a	293						cell surface|cytoplasm	hyaluronic acid binding				0	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)						703				0.166667	6.612983	8.509536	3	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162900540	162900540	7534	5	G	T	T	T	624	48	HMMR	2	2
SLIT3	6586	broad.mit.edu	37	5	168187881	168187881	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:168187881G>T	uc010jjg.2	-	c.1671C>A	c.(1669-1671)CCC>CCA	p.P557P	SLIT3_uc003mab.2_Silent_p.P557P	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	557					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			Ovarian(29;311 847 10864 17279 24903)								0.204545	60.184806	70.851746	27	105	KEEP	---	---	---	---	capture		Silent	SNP	168187881	168187881	15239	5	G	T	T	T	600	47	SLIT3	2	2
DOCK2	1794	broad.mit.edu	37	5	169141187	169141187	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169141187G>T	uc003maf.2	+	c.1815G>T	c.(1813-1815)CTG>CTT	p.L605L	DOCK2_uc011der.1_Non-coding_Transcript|DOCK2_uc010jjm.2_Silent_p.L97L|DOCK2_uc010jjl.1_Silent_p.L123L	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	605	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.093023	4.030801	18.362903	8	78	KEEP	---	---	---	---	capture		Silent	SNP	169141187	169141187	4871	5	G	T	T	T	600	47	DOCK2	2	2
CNOT6	57472	broad.mit.edu	37	5	180000988	180000988	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180000988G>T	uc003mlx.2	+	c.1462G>T	c.(1462-1464)GGT>TGT	p.G488C	CNOT6_uc010jld.2_Missense_Mutation_p.G488C|CNOT6_uc010jle.2_Missense_Mutation_p.G483C	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	488					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding				0	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)										0.144928	15.800203	24.174434	10	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180000988	180000988	3760	5	G	T	T	T	559	43	CNOT6	2	2
CDH18	1016	broad.mit.edu	37	5	19838945	19838945	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:19838945G>T	uc003jgc.2	-	c.151C>A	c.(151-153)CCC>ACC	p.P51T	CDH18_uc003jgd.2_Missense_Mutation_p.P51T|CDH18_uc011cnm.1_Missense_Mutation_p.P51T	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	51					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.303571	43.753844	45.682253	17	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19838945	19838945	3232	5	G	T	T	T	533	41	CDH18	2	2
CDH10	1008	broad.mit.edu	37	5	24537671	24537671	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24537671C>A	uc003jgr.1	-	c.344G>T	c.(343-345)AGG>ATG	p.R115M	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	115	Cadherin 1.|Extracellular (Potential).				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)										0.23913	26.499629	29.359632	11	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24537671	24537671	3225	5	C	A	A	A	312	24	CDH10	2	2
CDH10	1008	broad.mit.edu	37	5	24593550	24593550	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24593550G>T	uc003jgr.1	-	c.50C>A	c.(49-51)CCA>CAA	p.P17Q	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	17					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)										0.194444	16.003241	19.139034	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24593550	24593550	3225	5	G	T	T	T	611	47	CDH10	2	2
CDH9	1007	broad.mit.edu	37	5	26881641	26881641	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:26881641G>T	uc003jgs.1	-	c.1974C>A	c.(1972-1974)ACC>ACA	p.T658T	CDH9_uc011cnv.1_Silent_p.T251T	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	658	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)	5						Melanoma(8;187 585 15745 40864 52829)								0.097561	5.250071	18.538295	8	74	KEEP	---	---	---	---	capture		Silent	SNP	26881641	26881641	3246	5	G	T	T	T	444	35	CDH9	2	2
CDH6	1004	broad.mit.edu	37	5	31323321	31323321	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31323321C>A	uc003jhe.1	+	c.2279C>A	c.(2278-2280)GCA>GAA	p.A760E		NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	760	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|large_intestine(1)	5														0.348837	126.543413	129.141111	45	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31323321	31323321	3243	5	C	A	A	A	325	25	CDH6	2	2
C5orf22	55322	broad.mit.edu	37	5	31541486	31541486	+	Silent	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31541486A>G	uc003jhj.3	+	c.969A>G	c.(967-969)GTA>GTG	p.V323V	C5orf22_uc011cnw.1_Non-coding_Transcript|C5orf22_uc003jhk.3_Silent_p.V58V	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	hypothetical protein LOC55322	323										ovary(2)	2														0.121212	31.411203	49.964269	16	116	KEEP	---	---	---	---	capture		Silent	SNP	31541486	31541486	2383	5	A	G	G	G	171	14	C5orf22	4	4
PDZD2	23037	broad.mit.edu	37	5	32059401	32059401	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:32059401C>T	uc003jhl.2	+	c.2257C>T	c.(2257-2259)CCT>TCT	p.P753S	PDZD2_uc003jhm.2_Missense_Mutation_p.P753S|PDZD2_uc011cnx.1_Missense_Mutation_p.P579S	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	753	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|large_intestine(1)	7														0.095238	2.997956	13.362637	6	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32059401	32059401	12122	5	C	T	T	T	390	30	PDZD2	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33616054	33616054	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33616054C>A	uc003jia.1	-	c.2267G>T	c.(2266-2268)GGG>GTG	p.G756V	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G671V	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	756	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.095238	5.004733	32.625674	16	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33616054	33616054	258	5	C	A	A	A	286	22	ADAMTS12	2	2
SPEF2	79925	broad.mit.edu	37	5	35670312	35670312	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35670312G>T	uc003jjo.2	+	c.1507G>T	c.(1507-1509)GAT>TAT	p.D503Y	SPEF2_uc003jjn.1_Missense_Mutation_p.D503Y|SPEF2_uc003jjq.3_Missense_Mutation_p.D503Y	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	503					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			ovary(1)|central_nervous_system(1)	2	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.142857	6.948669	11.254011	5	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35670312	35670312	15547	5	G	T	T	T	585	45	SPEF2	2	2
LIFR	3977	broad.mit.edu	37	5	38496683	38496683	+	Silent	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:38496683A>G	uc010ive.1	-	c.1686T>C	c.(1684-1686)AAT>AAC	p.N562N	LIFR_uc003jli.2_Silent_p.N562N	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	562	Extracellular (Potential).|Fibronectin type-III 4.				leukemia inhibitory factor signaling pathway|positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(2)|large_intestine(1)	3	all_lung(31;0.00021)					Melanoma(13;4 730 6426 9861 34751)				529				0.095238	13.142504	37.309314	14	133	KEEP	---	---	---	---	capture		Silent	SNP	38496683	38496683	9106	5	A	G	G	G	102	8	LIFR	4	4
HEATR7B2	133558	broad.mit.edu	37	5	41010084	41010084	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41010084G>T	uc003jmj.3	-	c.3233C>A	c.(3232-3234)GCC>GAC	p.A1078D	HEATR7B2_uc003jmi.3_Missense_Mutation_p.A633D	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1078							binding			ovary(6)|central_nervous_system(2)	8														0.102041	2.634507	10.377672	5	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41010084	41010084	7318	5	G	T	T	T	546	42	HEATR7B2	2	2
PLCXD3	345557	broad.mit.edu	37	5	41313851	41313851	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41313851C>A	uc003jmm.1	-	c.834G>T	c.(832-834)CAG>CAT	p.Q278H		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	278					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	4														0.135135	7.147116	11.923556	5	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41313851	41313851	12469	5	C	A	A	A	259	20	PLCXD3	2	2
C5orf28	64417	broad.mit.edu	37	5	43446492	43446492	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:43446492C>A	uc003jny.2	-	c.480G>T	c.(478-480)GGG>GGT	p.G160G	C5orf28_uc003jnv.3_Silent_p.G160G|C5orf28_uc003jnx.2_Silent_p.G160G	NM_022483	NP_071928	Q0VDI3	CE028_HUMAN	hypothetical protein LOC64417	160						integral to membrane					0	Lung NSC(6;2.07e-05)													0.281553	67.717068	72.144549	29	74	KEEP	---	---	---	---	capture		Silent	SNP	43446492	43446492	2387	5	C	A	A	A	379	30	C5orf28	2	2
SLC9A3	6550	broad.mit.edu	37	5	476405	476405	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:476405C>T	uc003jbe.2	-	c.1979G>A	c.(1978-1980)CGC>CAC	p.R660H	SLC9A3_uc011clx.1_Missense_Mutation_p.R651H	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	660	Interaction with PDZD3 (By similarity).|Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)											0.05814	-17.185501	18.025731	10	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	476405	476405	15210	5	C	T	T	T	351	27	SLC9A3	1	1
ADAMTS16	170690	broad.mit.edu	37	5	5146295	5146295	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5146295C>A	uc003jdl.2	+	c.228C>A	c.(226-228)TCC>TCA	p.S76S	ADAMTS16_uc003jdk.1_Silent_p.S76S|ADAMTS16_uc003jdj.1_Silent_p.S76S	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	76					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.244186	49.859167	54.969778	21	65	KEEP	---	---	---	---	capture		Silent	SNP	5146295	5146295	262	5	C	A	A	A	275	22	ADAMTS16	2	2
CDC20B	166979	broad.mit.edu	37	5	54423141	54423141	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:54423141C>A	uc003jpo.1	-	c.933G>T	c.(931-933)ATG>ATT	p.M311I	CDC20B_uc003jpn.1_Missense_Mutation_p.M311I|CDC20B_uc010ivu.1_Missense_Mutation_p.M311I|CDC20B_uc010ivv.1_Missense_Mutation_p.M311I	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	CDC20 cell division cycle 20 homolog B isoform	311	WD 3.										0		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)											0.107914	15.636027	36.811611	15	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54423141	54423141	3188	5	C	A	A	A	325	25	CDC20B	2	2
KIAA0947	23379	broad.mit.edu	37	5	5460556	5460556	+	Missense_Mutation	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5460556A>G	uc003jdm.3	+	c.1109A>G	c.(1108-1110)TAC>TGC	p.Y370C		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	370										ovary(1)|central_nervous_system(1)	2														0.1	4.604366	9.396578	3	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5460556	5460556	8509	5	A	G	G	G	182	14	KIAA0947	4	4
KIAA0947	23379	broad.mit.edu	37	5	5464516	5464516	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5464516G>A	uc003jdm.3	+	c.5069G>A	c.(5068-5070)CGT>CAT	p.R1690H		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1690	Pro-rich.									ovary(1)|central_nervous_system(1)	2														0.262774	171.888341	185.768059	72	202	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5464516	5464516	8509	5	G	A	A	A	520	40	KIAA0947	1	1
IL31RA	133396	broad.mit.edu	37	5	55168222	55168222	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:55168222G>A	uc003jql.2	+	c.397G>A	c.(397-399)GAA>AAA	p.E133K	IL31RA_uc003jqk.2_Missense_Mutation_p.E133K|IL31RA_uc011cqj.1_5'UTR|IL31RA_uc003jqm.2_Missense_Mutation_p.E101K|IL31RA_uc003jqn.2_Missense_Mutation_p.E133K|IL31RA_uc010iwa.1_Missense_Mutation_p.E101K|IL31RA_uc003jqo.2_5'UTR	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	101	Extracellular (Potential).|Fibronectin type-III 1.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)												0.181818	15.370699	19.558666	8	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55168222	55168222	7992	5	G	A	A	A	585	45	IL31RA	2	2
ADAMTS6	11174	broad.mit.edu	37	5	64492849	64492849	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:64492849T>A	uc003jtp.2	-	c.2705A>T	c.(2704-2706)GAG>GTG	p.E902V	ADAMTS6_uc003jto.2_Non-coding_Transcript|ADAMTS6_uc003jtq.2_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	902	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)										0.168142	37.352063	49.142313	19	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64492849	64492849	271	5	T	A	A	A	702	54	ADAMTS6	3	3
MAST4	375449	broad.mit.edu	37	5	66460973	66460973	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:66460973G>T	uc003jut.1	+	c.5399G>T	c.(5398-5400)AGG>ATG	p.R1800M	MAST4_uc003juw.2_Missense_Mutation_p.R1728M|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1992					protein phosphorylation	cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)						805				0.2	6.015326	7.27204	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66460973	66460973	9711	5	G	T	T	T	455	35	MAST4	2	2
NAIP	4671	broad.mit.edu	37	5	70308462	70308462	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:70308462C>G	uc003kar.1	-	c.281G>C	c.(280-282)GGG>GCG	p.G94A	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.G94A|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein isoform	94	BIR 1.				anti-apoptosis|apoptosis|negative regulation of caspase activity|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)										0.089109	3.094484	20.321885	9	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70308462	70308462	10543	5	C	G	G	G	286	22	NAIP	3	3
SV2C	22987	broad.mit.edu	37	5	75490762	75490762	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:75490762G>T	uc003kei.1	+	c.599G>T	c.(598-600)GGG>GTG	p.G200V		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	200	Helical; (Potential).				neurotransmitter transport|transmembrane transport	cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)										0.252294	131.503165	143.666411	55	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75490762	75490762	15939	5	G	T	T	T	559	43	SV2C	2	2
ADCY2	108	broad.mit.edu	37	5	7626390	7626390	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7626390C>T	uc003jdz.1	+	c.681C>T	c.(679-681)ATC>ATT	p.I227I		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	227	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)	6														0.097744	6.065816	27.624213	13	120	KEEP	---	---	---	---	capture		Silent	SNP	7626390	7626390	295	5	C	T	T	T	369	29	ADCY2	2	2
WDR41	55255	broad.mit.edu	37	5	76749729	76749729	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:76749729C>G	uc003kff.1	-	c.436G>C	c.(436-438)GAT>CAT	p.D146H	WDR41_uc011csy.1_Missense_Mutation_p.D146H|WDR41_uc011csz.1_Missense_Mutation_p.D91H|WDR41_uc011cta.1_Non-coding_Transcript|WDR41_uc011ctb.1_Intron	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	146	WD 3.										0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)										0.125	18.989564	29.981964	10	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76749729	76749729	17867	5	C	G	G	G	416	32	WDR41	3	3
VCAN	1462	broad.mit.edu	37	5	82836773	82836773	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82836773C>A	uc003kii.3	+	c.7951C>A	c.(7951-7953)CAT>AAT	p.H2651N	VCAN_uc003kij.3_Missense_Mutation_p.H1664N|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.H1315N	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2651	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.104895	14.915025	37.114706	15	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82836773	82836773	17703	5	C	A	A	A	221	17	VCAN	2	2
VCAN	1462	broad.mit.edu	37	5	82837228	82837228	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82837228C>A	uc003kii.3	+	c.8406C>A	c.(8404-8406)TCC>TCA	p.S2802S	VCAN_uc003kij.3_Silent_p.S1815S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.S1466S	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2802	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.08547	2.654145	23.04397	10	107	KEEP	---	---	---	---	capture		Silent	SNP	82837228	82837228	17703	5	C	A	A	A	262	21	VCAN	2	2
VCAN	1462	broad.mit.edu	37	5	82837640	82837640	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82837640G>C	uc003kii.3	+	c.8818G>C	c.(8818-8820)GTT>CTT	p.V2940L	VCAN_uc003kij.3_Missense_Mutation_p.V1953L|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.V1604L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2940	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.196429	56.182029	65.801768	22	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82837640	82837640	17703	5	G	C	C	C	468	36	VCAN	3	3
VCAN	1462	broad.mit.edu	37	5	82849281	82849281	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82849281C>A	uc003kii.3	+	c.9592C>A	c.(9592-9594)CGT>AGT	p.R3198S	VCAN_uc003kij.3_Missense_Mutation_p.R2211S|VCAN_uc010jau.2_Missense_Mutation_p.R1444S|VCAN_uc003kik.3_Missense_Mutation_p.R457S|VCAN_uc003kil.3_Missense_Mutation_p.R1862S	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	3198	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.141791	34.33368	50.914669	19	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82849281	82849281	17703	5	C	A	A	A	299	23	VCAN	1	1
GCNT2	2651	broad.mit.edu	37	6	10626804	10626804	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:10626804G>T	uc010joo.2	+	c.1173G>T	c.(1171-1173)CAG>CAT	p.Q391H	GCNT2_uc010jol.2_Missense_Mutation_p.Q105H|GCNT2_uc010jom.2_Non-coding_Transcript|GCNT2_uc010jop.2_Non-coding_Transcript|GCNT2_uc003mza.2_Non-coding_Transcript|GCNT2_uc003mzc.3_Missense_Mutation_p.Q390H|GCNT2_uc003mzd.2_Missense_Mutation_p.Q389H|GCNT2_uc003mze.2_Missense_Mutation_p.Q391H	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2,	391	Lumenal (Potential).					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)	2	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)						312				0.366197	67.722834	68.843785	26	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10626804	10626804	6567	6	G	T	T	T	425	33	GCNT2	2	2
LAMA2	3908	broad.mit.edu	37	6	129511486	129511486	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129511486G>T	uc003qbn.2	+	c.1604G>T	c.(1603-1605)GGC>GTC	p.G535V	LAMA2_uc003qbo.2_Missense_Mutation_p.G535V	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	535	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.222222	9.589605	10.867863	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129511486	129511486	8929	6	G	T	T	T	546	42	LAMA2	2	2
BCLAF1	9774	broad.mit.edu	37	6	136596682	136596682	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:136596682G>T	uc003qgx.1	-	c.1840C>A	c.(1840-1842)CAT>AAT	p.H614N	BCLAF1_uc003qgw.1_Missense_Mutation_p.H441N|BCLAF1_uc003qgy.1_Missense_Mutation_p.H612N|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.H612N	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	614					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|transcription repressor activity			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		Colon(142;1534 1789 5427 7063 28491)								0.0875	0.957302	14.737545	7	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136596682	136596682	1404	6	G	T	T	T	585	45	BCLAF1	2	2
BCLAF1	9774	broad.mit.edu	37	6	136600953	136600953	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:136600953G>T	uc003qgx.1	-	c.52C>A	c.(52-54)CAG>AAG	p.Q18K	BCLAF1_uc003qgw.1_Missense_Mutation_p.Q18K|BCLAF1_uc003qgy.1_Missense_Mutation_p.Q18K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.Q18K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	18					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|transcription repressor activity			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		Colon(142;1534 1789 5427 7063 28491)								0.105263	4.369611	10.256412	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136600953	136600953	1404	6	G	T	T	T	624	48	BCLAF1	2	2
C6orf115	58527	broad.mit.edu	37	6	139355328	139355328	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:139355328G>C	uc003qil.2	+	c.31G>C	c.(31-33)GTG>CTG	p.V11L	C6orf115_uc003qim.2_Missense_Mutation_p.V11L	NM_021243	NP_067066	Q9P1F3	CF115_HUMAN	hypothetical protein LOC58527	11											0				GBM - Glioblastoma multiforme(68;0.000278)|OV - Ovarian serous cystadenocarcinoma(155;0.000413)										0.163121	60.330423	75.537048	23	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139355328	139355328	2424	6	G	C	C	C	468	36	C6orf115	3	3
GRM1	2911	broad.mit.edu	37	6	146755806	146755806	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146755806C>A	uc010khw.1	+	c.3459C>A	c.(3457-3459)GAC>GAA	p.D1153E	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1153	Ser-rich.|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(4)|central_nervous_system(3)|large_intestine(2)	9		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)									0.282353	63.061871	66.680786	24	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146755806	146755806	7075	6	C	A	A	A	259	20	GRM1	2	2
SYNE1	23345	broad.mit.edu	37	6	152469245	152469245	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152469245G>T	uc010kiw.2	-	c.24911C>A	c.(24910-24912)CCC>CAC	p.P8304H	SYNE1_uc010kiv.2_Missense_Mutation_p.P2828H|SYNE1_uc003qos.3_Missense_Mutation_p.P2828H|SYNE1_uc003qot.3_Missense_Mutation_p.P8233H|SYNE1_uc003qou.3_Missense_Mutation_p.P8304H|SYNE1_uc003qop.3_Missense_Mutation_p.P466H|SYNE1_uc011eez.1_Missense_Mutation_p.P506H|SYNE1_uc003qoq.3_Missense_Mutation_p.P506H|SYNE1_uc003qor.3_Missense_Mutation_p.P1204H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8304	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)										0.324675	66.576723	68.662906	25	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152469245	152469245	15966	6	G	T	T	T	559	43	SYNE1	2	2
OPRM1	4988	broad.mit.edu	37	6	154411019	154411019	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:154411019G>T	uc011efe.1	+	c.628G>T	c.(628-630)GCC>TCC	p.A210S	OPRM1_uc011efb.1_Missense_Mutation_p.A165S|OPRM1_uc011efc.1_Missense_Mutation_p.A36S|OPRM1_uc011efd.1_Missense_Mutation_p.A17S|OPRM1_uc003qpn.2_Missense_Mutation_p.A117S|OPRM1_uc003qpo.1_Missense_Mutation_p.A117S|OPRM1_uc011eff.1_Missense_Mutation_p.A117S|OPRM1_uc011efg.1_Missense_Mutation_p.A117S|OPRM1_uc011efh.1_Missense_Mutation_p.A117S|OPRM1_uc003qpq.1_Missense_Mutation_p.A117S|OPRM1_uc003qpr.2_Missense_Mutation_p.A117S|OPRM1_uc003qpt.1_Missense_Mutation_p.A117S|OPRM1_uc011efi.1_Missense_Mutation_p.A117S|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.A17S|OPRM1_uc003qpu.2_Missense_Mutation_p.A17S	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1H	117	Helical; Name=2; (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)									0.260163	78.344201	84.753308	32	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154411019	154411019	11293	6	G	T	T	T	598	46	OPRM1	2	2
IGF2R	3482	broad.mit.edu	37	6	160466889	160466889	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160466889C>G	uc003qta.2	+	c.1878C>G	c.(1876-1878)AAC>AAG	p.N626K		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	626	4.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)										0.170455	73.981485	92.025377	30	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160466889	160466889	7877	6	C	G	G	G	259	20	IGF2R	3	3
PDE10A	10846	broad.mit.edu	37	6	165863740	165863740	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:165863740G>T	uc003quo.2	-	c.336C>A	c.(334-336)ATC>ATA	p.I112I	PDE10A_uc011egj.1_Non-coding_Transcript|PDE10A_uc011egk.1_Silent_p.I32I|PDE10A_uc003qun.2_Silent_p.I102I	NM_001130690	NP_001124162	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 1	102	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)	3		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	Esophageal Squamous(22;308 615 5753 12038 40624)								0.203125	55.068217	65.55241	26	102	KEEP	---	---	---	---	capture		Silent	SNP	165863740	165863740	12051	6	G	T	T	T	577	45	PDE10A	2	2
KIF13A	63971	broad.mit.edu	37	6	17764658	17764658	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:17764658C>A	uc003ncg.3	-	c.5101G>T	c.(5101-5103)GAA>TAA	p.E1701*	KIF13A_uc003ncf.2_Nonsense_Mutation_p.E1653*|KIF13A_uc003nch.3_Nonsense_Mutation_p.E1666*|KIF13A_uc003nci.3_Nonsense_Mutation_p.E1653*|KIF13A_uc003nce.1_Nonsense_Mutation_p.E252*	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1701					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)											0.421053	82.272393	82.709197	32	44	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	17764658	17764658	8585	6	C	A	A	A	416	32	KIF13A	5	2
FAM65B	9750	broad.mit.edu	37	6	24843402	24843402	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:24843402A>T	uc003neo.1	-	c.1608T>A	c.(1606-1608)GAT>GAA	p.D536E	FAM65B_uc011djs.1_Missense_Mutation_p.D515E|FAM65B_uc011dju.1_Missense_Mutation_p.D520E|FAM65B_uc003nep.2_Missense_Mutation_p.D486E|FAM65B_uc011djt.1_Missense_Mutation_p.D486E	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	536					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1														0.427778	244.04888	244.866742	77	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24843402	24843402	5823	6	A	T	T	T	102	8	FAM65B	3	3
BTN3A3	10384	broad.mit.edu	37	6	26452326	26452326	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26452326C>G	uc003nhz.2	+	c.1442C>G	c.(1441-1443)TCT>TGT	p.S481C	BTN3A3_uc003nia.2_Missense_Mutation_p.S439C|BTN3A3_uc011dkn.1_Missense_Mutation_p.S432C	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	481	B30.2/SPRY.|Cytoplasmic (Potential).					integral to membrane					0														0.056818	-13.80183	40.653588	15	249	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26452326	26452326	1598	6	C	G	G	G	416	32	BTN3A3	3	3
OR2B3	442184	broad.mit.edu	37	6	29054813	29054813	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29054813G>T	uc003nlx.2	-	c.213C>A	c.(211-213)CTC>CTA	p.L71L		NM_001005226	NP_001005226			olfactory receptor, family 2, subfamily B,												0														0.08642	1.216525	29.29685	14	148	KEEP	---	---	---	---	capture		Silent	SNP	29054813	29054813	11396	6	G	T	T	T	418	33	OR2B3	2	2
MAS1L	116511	broad.mit.edu	37	6	29454605	29454605	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29454605G>A	uc011dlq.1	-	c.1075C>T	c.(1075-1077)CAC>TAC	p.H359Y		NM_052967	NP_443199	P35410	MAS1L_HUMAN	MAS1 oncogene-like	359	Cytoplasmic (Potential).					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			ovary(5)	5						NSCLC(153;755 1987 3859 11251 32945)								0.421348	207.586349	208.548542	75	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29454605	29454605	9705	6	G	A	A	A	624	48	MAS1L	2	2
ZFP57	346171	broad.mit.edu	37	6	29640985	29640985	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29640985C>A	uc011dlw.1	-	c.903G>T	c.(901-903)CAG>CAT	p.Q301H	ZFP57_uc003nnl.3_Missense_Mutation_p.Q281H	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	217					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)	3														0.153179	90.439879	130.264089	53	293	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29640985	29640985	18239	6	C	A	A	A	311	24	ZFP57	2	2
MDC1	9656	broad.mit.edu	37	6	30675547	30675547	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:30675547C>A	uc003nrg.3	-	c.2809G>T	c.(2809-2811)GTG>TTG	p.V937L	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	937				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4														0.268	180.607234	192.759541	67	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30675547	30675547	9792	6	C	A	A	A	234	18	MDC1	2	2
TCF19	6941	broad.mit.edu	37	6	31129474	31129474	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31129474C>T	uc003nss.2	+	c.489C>T	c.(487-489)CTC>CTT	p.L163L	TCF19_uc003nst.2_Silent_p.L163L	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	163					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.115607	17.87859	43.05534	20	153	KEEP	---	---	---	---	capture		Silent	SNP	31129474	31129474	16215	6	C	T	T	T	366	29	TCF19	2	2
HLA-DPA1	3113	broad.mit.edu	37	6	33037434	33037434	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33037434G>A	uc003ocs.1	-	c.330C>T	c.(328-330)CAC>CAT	p.H110H	HLA-DPA1_uc010juk.2_Silent_p.H110H|HLA-DPA1_uc003oct.1_Silent_p.H110H	NM_033554	NP_291032	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP	110	Alpha-1.|Extracellular (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0														0.256198	72.468465	78.991505	31	90	KEEP	---	---	---	---	capture		Silent	SNP	33037434	33037434	7493	6	G	A	A	A	620	48	HLA-DPA1	2	2
GRM4	2914	broad.mit.edu	37	6	34024378	34024379	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:34024378_34024379GG>TT	uc003oir.3	-	c.1110_1111CC>AA	c.(1108-1113)TTCCAC>TTAAAC	p.370_371FH>LN	GRM4_uc011dsn.1_Intron|GRM4_uc010jvh.2_Missense_Mutation_p.370_371FH>LN|GRM4_uc010jvi.2_Missense_Mutation_p.62_63FH>LN|GRM4_uc003oio.2_Missense_Mutation_p.62_63FH>LN|GRM4_uc003oip.2_Non-coding_Transcript|GRM4_uc011dsl.1_Missense_Mutation_p.230_231FH>LN|GRM4_uc003oiq.2_Missense_Mutation_p.237_238FH>LN|GRM4_uc011dsm.1_Missense_Mutation_p.201_202FH>LN	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	370_371	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(1)	1					L-Glutamic Acid(DB00142)									0.37931	31.115074	31.486639	11	18	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	34024378	34024379	7078	6	GG	TT	TT	TT	611	47	GRM4	2	2
NCR2	9436	broad.mit.edu	37	6	41309566	41309566	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41309566C>T	uc003oqh.2	+	c.429C>T	c.(427-429)CGC>CGT	p.R143R	NCR2_uc003oqi.2_Silent_p.R143R|NCR2_uc003oqj.2_Silent_p.R143R	NM_004828	NP_004819	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	143	Extracellular (Potential).				cellular defense response	integral to plasma membrane	transmembrane receptor activity			ovary(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)													0.126667	22.933315	43.326767	19	131	KEEP	---	---	---	---	capture		Silent	SNP	41309566	41309566	10637	6	C	T	T	T	340	27	NCR2	1	1
UBR2	23304	broad.mit.edu	37	6	42600433	42600433	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42600433G>A	uc011dur.1	+	c.1425G>A	c.(1423-1425)CAG>CAA	p.Q475Q	UBR2_uc011dus.1_Silent_p.Q120Q|UBR2_uc010jxv.1_5'UTR|UBR2_uc003osh.2_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	475						nucleus|plasma membrane	zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)											0.262295	42.769279	45.889341	16	45	KEEP	---	---	---	---	capture		Silent	SNP	42600433	42600433	17460	6	G	A	A	A	425	33	UBR2	2	2
PTK7	5754	broad.mit.edu	37	6	43106643	43106643	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43106643G>T	uc011dve.1	+	c.1309G>T	c.(1309-1311)GGC>TGC	p.G437C	PTK7_uc003oub.1_Missense_Mutation_p.G429C|PTK7_uc003ouc.1_Missense_Mutation_p.G429C|PTK7_uc003oud.1_Missense_Mutation_p.G429C|PTK7_uc003oue.1_Intron|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Missense_Mutation_p.G105C	NM_002821	NP_002812	Q13308	PTK7_HUMAN	PTK7 protein tyrosine kinase 7 isoform a	429	Ig-like C2-type 5.|Extracellular (Potential).				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration|protein phosphorylation	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			large_intestine(1)	1			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)							398				0.301508	165.139665	172.132212	60	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43106643	43106643	13220	6	G	T	T	T	507	39	PTK7	1	1
MEP1A	4224	broad.mit.edu	37	6	46803277	46803277	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:46803277C>A	uc011dwh.1	+	c.2159C>A	c.(2158-2160)GCG>GAG	p.A720E	MEP1A_uc010jzh.1_Missense_Mutation_p.A692E|MEP1A_uc011dwg.1_Missense_Mutation_p.A414E|MEP1A_uc011dwi.1_Missense_Mutation_p.A592E	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	692	EGF-like.|Extracellular (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)											0.366667	30.911855	31.382639	11	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46803277	46803277	9864	6	C	A	A	A	351	27	MEP1A	1	1
CRISP1	167	broad.mit.edu	37	6	49819733	49819733	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49819733G>T	uc003ozw.2	-	c.176C>A	c.(175-177)GCC>GAC	p.A59D	CRISP1_uc003ozx.2_Missense_Mutation_p.A59D	NM_001131	NP_001122	P54107	CRIS1_HUMAN	acidic epididymal glycoprotein-like 1 isoform 1	59					fusion of sperm to egg plasma membrane	extracellular space					0	Lung NSC(77;0.0358)													0.423729	72.663093	72.962979	25	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49819733	49819733	4018	6	G	T	T	T	546	42	CRISP1	2	2
PKHD1	5314	broad.mit.edu	37	6	51909775	51909776	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51909775_51909776GG>TT	uc003pah.1	-	c.2703_2704CC>AA	c.(2701-2706)AACCAG>AAAAAG	p.901_902NQ>KK	PKHD1_uc003pai.2_Missense_Mutation_p.901_902NQ>KK	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	901_902	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.226415	28.947305	32.618528	12	41	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	51909775	51909776	12396	6	GG	TT	TT	TT	611	47	PKHD1	2	2
EYS	346007	broad.mit.edu	37	6	66094394	66094394	+	Splice_Site_SNP	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:66094394C>G	uc011dxu.1	-	c.1185_splice	c.e8-1	p.S395_splice	EYS_uc003peq.2_Splice_Site_SNP_p.S395_splice|EYS_uc003per.1_Splice_Site_SNP_p.S395_splice	NM_001142800	NP_001136272			eyes shut homolog isoform 1						response to stimulus|visual perception	extracellular region	calcium ion binding			ovary(1)	1														0.428571	10.824067	10.855206	3	4	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	66094394	66094394	5526	6	C	G	G	G	364	28	EYS	5	3
FAM135A	57579	broad.mit.edu	37	6	71235818	71235818	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:71235818G>C	uc003pfj.2	+	c.3031G>C	c.(3031-3033)GAA>CAA	p.E1011Q	FAM135A_uc003pfi.2_Missense_Mutation_p.E815Q|FAM135A_uc003pfh.2_Missense_Mutation_p.E798Q|FAM135A_uc003pfl.2_Missense_Mutation_p.E678Q|FAM135A_uc003pfn.2_Missense_Mutation_p.E217Q|FAM135A_uc003pfo.1_Missense_Mutation_p.E382Q|FAM135A_uc010kan.1_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	1011										central_nervous_system(1)	1														0.210526	33.866473	38.28601	12	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71235818	71235818	5645	6	G	C	C	C	429	33	FAM135A	3	3
RIMS1	22999	broad.mit.edu	37	6	72892193	72892193	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:72892193C>A	uc003pga.2	+	c.1019C>A	c.(1018-1020)GCG>GAG	p.A340E	RIMS1_uc011dyb.1_5'UTR|RIMS1_uc003pgc.2_5'UTR|RIMS1_uc003pgb.3_5'UTR	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	340					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)												0.130435	5.409458	8.464258	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72892193	72892193	13844	6	C	A	A	A	351	27	RIMS1	1	1
KCNQ5	56479	broad.mit.edu	37	6	73904317	73904317	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:73904317C>A	uc011dyh.1	+	c.2036C>A	c.(2035-2037)CCT>CAT	p.P679H	KCNQ5_uc011dyi.1_Missense_Mutation_p.P670H|KCNQ5_uc010kat.2_Missense_Mutation_p.P651H|KCNQ5_uc003pgk.2_Missense_Mutation_p.P660H|KCNQ5_uc011dyj.1_Missense_Mutation_p.P550H|KCNQ5_uc011dyk.1_Missense_Mutation_p.P410H	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	660					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)	6		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GBM(142;1375 1859 14391 23261 44706)								0.269565	78.667516	84.181944	31	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73904317	73904317	8391	6	C	A	A	A	312	24	KCNQ5	2	2
SENP6	26054	broad.mit.edu	37	6	76376442	76376442	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:76376442G>A	uc003pid.3	+	c.1009G>A	c.(1009-1011)GAT>AAT	p.D337N	SENP6_uc003pie.3_Missense_Mutation_p.D330N|SENP6_uc010kbf.2_Non-coding_Transcript|SENP6_uc003pic.2_Missense_Mutation_p.D330N|SENP6_uc003pif.1_Missense_Mutation_p.D228N	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	337					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			urinary_tract(1)|ovary(1)|breast(1)|skin(1)	4		all_hematologic(105;0.189)												0.098039	2.633433	10.884851	5	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76376442	76376442	14536	6	G	A	A	A	585	45	SENP6	2	2
SENP6	26054	broad.mit.edu	37	6	76423247	76423247	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:76423247G>T	uc003pid.3	+	c.2928G>T	c.(2926-2928)ATG>ATT	p.M976I	SENP6_uc003pie.3_Missense_Mutation_p.M969I|SENP6_uc010kbf.2_Non-coding_Transcript	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	976	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			urinary_tract(1)|ovary(1)|breast(1)|skin(1)	4		all_hematologic(105;0.189)												0.112676	7.040099	17.57262	8	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76423247	76423247	14536	6	G	T	T	T	611	47	SENP6	2	2
IMPG1	3617	broad.mit.edu	37	6	76744429	76744430	+	Missense_Mutation	DNP	CA	AC	AC			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:76744429_76744430CA>AC	uc003pik.1	-	c.376_377TG>GT	c.(376-378)TGG>GTG	p.W126V		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	126					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)	2		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				Pancreas(37;839 1141 2599 26037)								0.361702	93.420183	95.004134	34	60	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	76744429	76744430	8029	6	CA	AC	AC	AC	273	21	IMPG1	2	2
CYB5R4	51167	broad.mit.edu	37	6	84569531	84569532	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:84569531_84569532GG>TT	uc003pkf.2	+	c.30_31GG>TT	c.(28-33)CCGGCC>CCTTCC	p.A11S		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	11					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|oxidation-reduction process|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(2)	2		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		Esophageal Squamous(86;1289 1332 25971 40349 52675)				343		OREG0017553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.125	5.745324	11.251337	5	35	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	84569531	84569532	4294	6	GG	TT	TT	TT	496	39	CYB5R4	1	1
CASP8AP2	9994	broad.mit.edu	37	6	90572173	90572173	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90572173G>T	uc003pnr.2	+	c.745G>T	c.(745-747)GAT>TAT	p.D249Y	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.D249Y|CASP8AP2_uc011dzz.1_Missense_Mutation_p.D249Y	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	249					activation of caspase activity|cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		Colon(187;1656 2025 17045 31481 39901)								0.215789	82.859999	97.035299	41	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90572173	90572173	2797	6	G	T	T	T	429	33	CASP8AP2	2	2
BACH2	60468	broad.mit.edu	37	6	90660326	90660326	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90660326C>A	uc011eab.1	-	c.1499G>T	c.(1498-1500)TGC>TTC	p.C500F	BACH2_uc003pnw.2_Missense_Mutation_p.C500F|BACH2_uc010kch.2_Missense_Mutation_p.C500F	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	500					regulation of transcription, DNA-dependent	nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|lung(1)|pancreas(1)	5		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)										0.141414	22.09451	34.365397	14	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90660326	90660326	1305	6	C	A	A	A	325	25	BACH2	2	2
NDUFAF4	29078	broad.mit.edu	37	6	97338990	97338990	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:97338990C>A	uc003pow.2	-	c.518G>T	c.(517-519)CGA>CTA	p.R173L	NDUFAF4_uc003pov.2_Non-coding_Transcript	NM_014165	NP_054884	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	173					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding				0														0.142857	5.180015	8.623945	4	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97338990	97338990	10676	6	C	A	A	A	403	31	NDUFAF4	1	1
ZAN	7455	broad.mit.edu	37	7	100336099	100336099	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100336099C>A	uc003uwj.2	+	c.629C>A	c.(628-630)ACA>AAA	p.T210K	ZAN_uc003uwk.2_Missense_Mutation_p.T210K|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	210	MAM 2.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)											0.181818	8.087518	10.179671	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100336099	100336099	18096	7	C	A	A	A	221	17	ZAN	2	2
TRIM56	81844	broad.mit.edu	37	7	100731029	100731029	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100731029G>T	uc003uxq.2	+	c.436G>T	c.(436-438)GTG>TTG	p.V146L	TRIM56_uc003uxr.2_Missense_Mutation_p.V146L	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	146	B box-type 1.				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					Ovarian(89;1092 1379 22756 38989 39611)								0.212121	15.705453	18.235762	7	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100731029	100731029	17076	7	G	T	T	T	520	40	TRIM56	1	1
TRIM56	81844	broad.mit.edu	37	7	100732256	100732256	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100732256G>T	uc003uxq.2	+	c.1663G>T	c.(1663-1665)GTG>TTG	p.V555L	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	555					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					Ovarian(89;1092 1379 22756 38989 39611)								0.173684	69.611791	88.668334	33	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100732256	100732256	17076	7	G	T	T	T	520	40	TRIM56	1	1
RELN	5649	broad.mit.edu	37	7	103270408	103270408	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103270408C>T	uc003vca.2	-	c.2681G>A	c.(2680-2682)TGT>TAT	p.C894Y	RELN_uc010liz.2_Missense_Mutation_p.C894Y	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	894					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)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		NSCLC(146;835 1944 15585 22231 52158)								0.141593	21.712838	35.731173	16	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103270408	103270408	13689	7	C	T	T	T	221	17	RELN	2	2
COG5	10466	broad.mit.edu	37	7	107204382	107204382	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107204382C>A	uc003vec.2	-	c.53G>T	c.(52-54)AGC>ATC	p.S18I	COG5_uc003ved.2_Missense_Mutation_p.S18I|COG5_uc003vee.2_Missense_Mutation_p.S18I|DUS4L_uc003veg.2_5'Flank|DUS4L_uc003veh.2_5'Flank|DUS4L_uc011klw.1_5'Flank|DUS4L_uc011klx.1_5'Flank	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	18					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)	2														0.190476	13.57583	17.340516	8	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107204382	107204382	3799	7	C	A	A	A	364	28	COG5	2	2
SLC26A3	1811	broad.mit.edu	37	7	107431524	107431524	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107431524G>T	uc003ver.2	-	c.539C>A	c.(538-540)GCA>GAA	p.A180E	SLC26A3_uc003ves.2_Missense_Mutation_p.A145E	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	180	Helical; (Potential).				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)	3														0.416667	42.42976	42.644553	15	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107431524	107431524	15015	7	G	T	T	T	598	46	SLC26A3	2	2
LAMB4	22798	broad.mit.edu	37	7	107720070	107720070	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107720070G>T	uc010ljo.1	-	c.1863C>A	c.(1861-1863)ACC>ACA	p.T621T	LAMB4_uc003vey.2_Silent_p.T621T	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	621	Laminin IV type B.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.136842	19.60509	31.737014	13	82	KEEP	---	---	---	---	capture		Silent	SNP	107720070	107720070	8936	7	G	T	T	T	600	47	LAMB4	2	2
NRCAM	4897	broad.mit.edu	37	7	107864184	107864184	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107864184C>G	uc003vfb.2	-	c.875G>C	c.(874-876)TGC>TCC	p.C292S	NRCAM_uc003vfc.2_Missense_Mutation_p.C286S|NRCAM_uc011kmk.1_Missense_Mutation_p.C287S|NRCAM_uc003vfd.2_Missense_Mutation_p.C268S|NRCAM_uc003vfe.2_Missense_Mutation_p.C268S	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	292	Ig-like 3.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5														0.225806	20.908143	23.048632	7	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107864184	107864184	11049	7	C	G	G	G	325	25	NRCAM	3	3
NRCAM	4897	broad.mit.edu	37	7	107878202	107878202	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107878202C>A	uc003vfb.2	-	c.118G>T	c.(118-120)GAA>TAA	p.E40*	NRCAM_uc003vfc.2_Intron|NRCAM_uc011kmk.1_Nonsense_Mutation_p.E35*|NRCAM_uc003vfd.2_Nonsense_Mutation_p.E35*|NRCAM_uc003vfe.2_Nonsense_Mutation_p.E35*	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	40	Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5														0.157895	5.411493	7.533019	3	16	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	107878202	107878202	11049	7	C	A	A	A	377	29	NRCAM	5	2
MDFIC	29969	broad.mit.edu	37	7	114619570	114619570	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:114619570A>T	uc003vhf.2	+	c.554A>T	c.(553-555)CAG>CTG	p.Q185L		NM_199072	NP_951038	Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing protein	76					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleolus|nucleus	cyclin binding|Tat protein binding|transcription repressor activity			ovary(1)	1														0.306452	56.608434	58.675722	19	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114619570	114619570	9794	7	A	T	T	T	91	7	MDFIC	3	3
SPAM1	6677	broad.mit.edu	37	7	123594257	123594257	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:123594257G>A	uc003vle.2	+	c.633G>A	c.(631-633)CGG>CGA	p.R211R	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.2_Silent_p.R211R|SPAM1_uc003vlf.3_Silent_p.R211R|SPAM1_uc010lku.2_Silent_p.R211R	NM_003117	NP_003108	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 1	211				R->G: Reduces activity by over 90%.	binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)									0.2	21.61844	25.806458	10	40	KEEP	---	---	---	---	capture		Silent	SNP	123594257	123594257	15489	7	G	A	A	A	535	42	SPAM1	2	2
GRM8	2918	broad.mit.edu	37	7	126173450	126173450	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:126173450G>A	uc003vlr.2	-	c.1986C>T	c.(1984-1986)AGC>AGT	p.S662S	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.S662S|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	662	Helical; Name=3; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				ovary(5)|pancreas(1)	6		Prostate(267;0.186)			L-Glutamic Acid(DB00142)									0.146552	27.613339	41.528767	17	99	KEEP	---	---	---	---	capture		Silent	SNP	126173450	126173450	7082	7	G	A	A	A	438	34	GRM8	2	2
SND1	27044	broad.mit.edu	37	7	127341286	127341287	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127341286_127341287GG>TT	uc003vmi.2	+	c.498_499GG>TT	c.(496-501)GAGGGG>GATTGG	p.166_167EG>DW		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	166_167					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)	2														0.081301	0.334741	22.360306	10	113	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	127341286	127341287	15344	7	GG	TT	TT	TT	451	35	SND1	2	2
KLHDC10	23008	broad.mit.edu	37	7	129770576	129770576	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:129770576G>T	uc003vpj.1	+	c.1319G>T	c.(1318-1320)CGC>CTC	p.R440L	KLHDC10_uc003vpk.1_Missense_Mutation_p.R411L|KLHDC10_uc010lmb.1_Missense_Mutation_p.R337L	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	kelch domain containing 10	440											0														0.196319	68.205073	82.221821	32	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129770576	129770576	8667	7	G	T	T	T	494	38	KLHDC10	1	1
PLXNA4	91584	broad.mit.edu	37	7	131825444	131825444	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:131825444C>A	uc003vra.3	-	c.5352G>T	c.(5350-5352)ACG>ACT	p.T1784T	PLXNA4_uc003vqz.3_Silent_p.T69T	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1784	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.091549	5.508232	29.347517	13	129	KEEP	---	---	---	---	capture		Silent	SNP	131825444	131825444	12548	7	C	A	A	A	236	19	PLXNA4	1	1
AKR1D1	6718	broad.mit.edu	37	7	137782616	137782616	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137782616G>T	uc003vtz.2	+	c.383G>T	c.(382-384)GGA>GTA	p.G128V	AKR1D1_uc011kqb.1_Missense_Mutation_p.G128V|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Missense_Mutation_p.G128V|AKR1D1_uc011kqf.1_Missense_Mutation_p.G128V|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	128					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion|oxidation-reduction process	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding				0														0.282828	65.14984	69.350283	28	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137782616	137782616	476	7	G	T	T	T	533	41	AKR1D1	2	2
BRAF	673	broad.mit.edu	37	7	140534575	140534575	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140534575C>A	uc003vwc.3	-	c.338G>T	c.(337-339)AGC>ATC	p.S113I		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	113					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(211)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(7681)|large_intestine(4665)|skin(3221)|NS(366)|central_nervous_system(264)|ovary(219)|lung(77)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(27)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(16)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	16798	Melanoma(164;0.00956)				Sorafenib(DB00398)	Colon(40;35 892 2973 5743 27438)		61		451				0.171053	25.285374	33.016602	13	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140534575	140534575	1527	7	C	A	A	A	364	28	BRAF	2	2
EPHB6	2051	broad.mit.edu	37	7	142568609	142568609	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142568609C>A	uc011kst.1	+	c.3018C>A	c.(3016-3018)ATC>ATA	p.I1006I	EPHB6_uc011ksu.1_Silent_p.I1006I|EPHB6_uc003wbs.2_Silent_p.I714I|EPHB6_uc003wbt.2_Silent_p.I480I|EPHB6_uc003wbu.2_Silent_p.I714I|EPHB6_uc003wbv.2_Silent_p.I390I	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	1006	SAM.|Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|large_intestine(4)|central_nervous_system(3)|ovary(1)|pancreas(1)	14	Melanoma(164;0.059)									313				0.192308	38.332238	47.536664	20	84	KEEP	---	---	---	---	capture		Silent	SNP	142568609	142568609	5371	7	C	A	A	A	382	30	EPHB6	2	2
CASP2	835	broad.mit.edu	37	7	143000892	143000892	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143000892G>T	uc003wco.2	+	c.983G>T	c.(982-984)GGG>GTG	p.G328V	CASP2_uc003wcp.2_3'UTR|CASP2_uc011kta.1_Missense_Mutation_p.G212V|CASP2_uc003wcq.2_Non-coding_Transcript|CASP2_uc011ktb.1_Missense_Mutation_p.G78V	NM_032982	NP_116764	P42575	CASP2_HUMAN	caspase 2 isoform 1 preproprotein	328					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding				0	Melanoma(164;0.059)									155				0.244898	29.283659	32.183294	12	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143000892	143000892	2790	7	G	T	T	T	559	43	CASP2	2	2
OR2F2	135948	broad.mit.edu	37	7	143632387	143632387	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143632387G>A	uc011ktv.1	+	c.62G>A	c.(61-63)TGG>TAG	p.W21*		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0903)													0.158358	88.884985	126.905715	54	287	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	143632387	143632387	11403	7	G	A	A	A	611	47	OR2F2	5	2
SSPO	23145	broad.mit.edu	37	7	149483252	149483252	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149483252G>T	uc010lpk.2	+	c.3320G>T	c.(3319-3321)CGT>CTT	p.R1107L	SSPO_uc010lpl.1_Missense_Mutation_p.R357L	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1107	VWFD 3.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)											0.444444	26.598509	26.646793	8	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149483252	149483252	15705	7	G	T	T	T	520	40	SSPO	1	1
ABCB5	340273	broad.mit.edu	37	7	20685634	20685634	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20685634T>C	uc010kuh.2	+	c.854T>C	c.(853-855)ATA>ACA	p.I285T	ABCB5_uc003suw.3_5'Flank|ABCB5_uc003suv.3_5'Flank|ABCB5_uc011jyi.1_5'Flank	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	467	Cytoplasmic (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.102564	10.347662	22.619122	8	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20685634	20685634	45	7	T	C	C	C	637	49	ABCB5	4	4
DNAH11	8701	broad.mit.edu	37	7	21747331	21747331	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21747331G>A	uc003svc.2	+	c.6582G>A	c.(6580-6582)CTG>CTA	p.L2194L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2194	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.088235	1.093132	12.754747	6	62	KEEP	---	---	---	---	capture		Silent	SNP	21747331	21747331	4781	7	G	A	A	A	574	45	DNAH11	2	2
GPNMB	10457	broad.mit.edu	37	7	23299711	23299711	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23299711G>T	uc003swc.2	+	c.654G>T	c.(652-654)CGG>CGT	p.R218R	GPNMB_uc003swb.2_Silent_p.R218R|GPNMB_uc011jyy.1_Silent_p.R160R|GPNMB_uc011jyz.1_Silent_p.R119R	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	218	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)											0.295302	114.294858	119.850827	44	105	KEEP	---	---	---	---	capture		Silent	SNP	23299711	23299711	6894	7	G	T	T	T	548	43	GPNMB	2	2
STK31	56164	broad.mit.edu	37	7	23802539	23802539	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23802539G>A	uc003sws.3	+	c.1413G>A	c.(1411-1413)TTG>TTA	p.L471L	STK31_uc003swt.3_Silent_p.L448L|STK31_uc011jze.1_Silent_p.L471L|STK31_uc010kuq.2_Silent_p.L448L	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	471					protein phosphorylation		ATP binding|nucleic acid binding|protein serine/threonine kinase activity			ovary(2)|lung(2)	4										598				0.1875	17.543352	21.935939	9	39	KEEP	---	---	---	---	capture		Silent	SNP	23802539	23802539	15816	7	G	A	A	A	594	46	STK31	2	2
MPP6	51678	broad.mit.edu	37	7	24705683	24705683	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:24705683G>T	uc003swx.2	+	c.927G>T	c.(925-927)ATG>ATT	p.M309I	MPP6_uc003swy.2_Missense_Mutation_p.M309I|MPP6_uc010kur.2_5'UTR	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6	309					protein complex assembly		protein binding				0														0.134615	10.28816	17.020748	7	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24705683	24705683	10130	7	G	T	T	T	585	45	MPP6	2	2
HNRNPA2B1	3181	broad.mit.edu	37	7	26237076	26237076	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:26237076C>G	uc003sxr.3	-	c.159G>C	c.(157-159)ATG>ATC	p.M53I	HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.M41I	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	53	RRM 1.				nuclear mRNA splicing, via spliceosome|RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			ovary(1)	1										717				0.075	2.08187	16.908918	6	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26237076	26237076	7551	7	C	G	G	G	377	29	HNRNPA2B1	3	3
HOXA2	3199	broad.mit.edu	37	7	27140602	27140602	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27140602G>T	uc003syh.2	-	c.874C>A	c.(874-876)CCC>ACC	p.P292T		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	292						nucleus	sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.125683	29.489643	54.538377	23	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27140602	27140602	7584	7	G	T	T	T	572	44	HOXA2	2	2
HOXA7	3204	broad.mit.edu	37	7	27195972	27195972	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27195972G>T	uc003sys.2	-	c.193C>A	c.(193-195)CCC>ACC	p.P65T		NM_006896	NP_008827	P31268	HXA7_HUMAN	homeobox A7	65					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|transcription factor binding|transcription repressor activity				0														0.121622	15.837006	36.618041	18	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27195972	27195972	7589	7	G	T	T	T	559	43	HOXA7	2	2
SCRN1	9805	broad.mit.edu	37	7	29980336	29980336	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:29980336T>A	uc011kaa.1	-	c.761A>T	c.(760-762)GAC>GTC	p.D254V	SCRN1_uc011jzy.1_Missense_Mutation_p.D166V|SCRN1_uc003tak.2_Missense_Mutation_p.D234V|SCRN1_uc011jzz.1_Missense_Mutation_p.D234V|SCRN1_uc011jzw.1_Intron|SCRN1_uc010kvp.2_Missense_Mutation_p.D234V|SCRN1_uc011jzx.1_Missense_Mutation_p.D57V	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	secernin 1 isoform b	234					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			ovary(2)	2														0.25	84.288855	92.012819	34	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29980336	29980336	14420	7	T	A	A	A	754	58	SCRN1	3	3
PDE1C	5137	broad.mit.edu	37	7	31862793	31862794	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31862793_31862794GG>TT	uc003tco.1	-	c.1655_1656CC>AA	c.(1654-1656)GCC>GAA	p.A552E	PDE1C_uc003tcm.1_Missense_Mutation_p.A492E|PDE1C_uc003tcn.1_Missense_Mutation_p.A492E|PDE1C_uc003tcr.2_Missense_Mutation_p.A492E|PDE1C_uc003tcs.2_Missense_Mutation_p.A492E	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	492	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			central_nervous_system(1)	1			GBM - Glioblastoma multiforme(11;0.216)											0.112245	12.352566	26.906963	11	87	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	31862793	31862794	12056	7	GG	TT	TT	TT	548	43	PDE1C	2	2
URGCP	55665	broad.mit.edu	37	7	43918845	43918845	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43918845G>A	uc003tiw.2	-	c.217C>T	c.(217-219)CTT>TTT	p.L73F	URGCP_uc003tiu.2_Missense_Mutation_p.L30F|URGCP_uc003tiv.2_5'UTR|URGCP_uc003tix.2_Missense_Mutation_p.L64F|URGCP_uc003tiy.2_Missense_Mutation_p.L30F|URGCP_uc003tiz.2_Missense_Mutation_p.L30F|URGCP_uc011kbj.1_Missense_Mutation_p.L30F	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	73					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)	3														0.126667	23.037055	43.434561	19	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43918845	43918845	17588	7	G	A	A	A	442	34	URGCP	2	2
POLM	27434	broad.mit.edu	37	7	44118364	44118364	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44118364C>A	uc003tjt.2	-	c.689G>T	c.(688-690)CGC>CTC	p.R230L	POLM_uc003tjw.1_5'Flank|POLM_uc003tju.2_Missense_Mutation_p.R230L|POLM_uc003tjx.2_Missense_Mutation_p.R230L|POLM_uc003tjv.2_Non-coding_Transcript|POLM_uc011kbt.1_5'UTR|POLM_uc003tka.1_5'Flank|POLM_uc003tjz.3_Missense_Mutation_p.R230L|POLM_uc011kbu.1_Missense_Mutation_p.R197L|POLM_uc010kxy.2_Missense_Mutation_p.R230L	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	DNA-directed DNA polymerase mu	230					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3														0.048951	-15.896188	15.011475	7	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44118364	44118364	12634	7	C	A	A	A	351	27	POLM	1	1
ADCY1	107	broad.mit.edu	37	7	45662261	45662261	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:45662261G>T	uc003tne.3	+	c.939G>T	c.(937-939)ACG>ACT	p.T313T	ADCY1_uc003tnd.2_Silent_p.T88T	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	313	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	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|central_nervous_system(1)	4					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)									0.203125	30.947554	36.178417	13	51	KEEP	---	---	---	---	capture		Silent	SNP	45662261	45662261	293	7	G	T	T	T	496	39	ADCY1	1	1
ADCY1	107	broad.mit.edu	37	7	45726179	45726179	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:45726179G>T	uc003tne.3	+	c.2361G>T	c.(2359-2361)CCG>CCT	p.P787P		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	787	Helical; (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	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|central_nervous_system(1)	4					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)									0.323944	61.79452	63.75108	23	48	KEEP	---	---	---	---	capture		Silent	SNP	45726179	45726179	293	7	G	T	T	T	470	37	ADCY1	1	1
IGFBP1	3484	broad.mit.edu	37	7	45931536	45931536	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:45931536C>A	uc003tnp.2	+	c.525C>A	c.(523-525)CCC>CCA	p.P175P	IGFBP1_uc003tno.3_Silent_p.P175P|IGFBP1_uc010kyn.2_Intron	NM_000596	NP_000587	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	175	Thyroglobulin type-1.					extracellular space	insulin-like growth factor binding				0												OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.229508	33.515583	37.610032	14	47	KEEP	---	---	---	---	capture		Silent	SNP	45931536	45931536	7879	7	C	A	A	A	301	24	IGFBP1	2	2
KIAA0415	9907	broad.mit.edu	37	7	4826038	4826038	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4826038G>C	uc003sne.2	+	c.1290G>C	c.(1288-1290)TTG>TTC	p.L430F	KIAA0415_uc010ksp.2_Non-coding_Transcript|KIAA0415_uc003snf.2_5'Flank	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	430					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)										0.037791	-49.130277	30.382289	13	331	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4826038	4826038	8482	7	G	C	C	C	581	45	KIAA0415	3	3
ABCA13	154664	broad.mit.edu	37	7	48316041	48316041	+	Missense_Mutation	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48316041A>G	uc003toq.2	+	c.6778A>G	c.(6778-6780)ATA>GTA	p.I2260V	ABCA13_uc010kyr.2_Missense_Mutation_p.I1763V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2260					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.421053	24.705252	24.80599	8	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48316041	48316041	32	7	A	G	G	G	104	8	ABCA13	4	4
IKZF1	10320	broad.mit.edu	37	7	50455154	50455154	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:50455154G>T	uc003tow.3	+	c.701G>T	c.(700-702)GGC>GTC	p.G234V	IKZF1_uc003tox.3_Intron|IKZF1_uc003toy.3_Intron|IKZF1_uc011kck.1_Missense_Mutation_p.G147V|IKZF1_uc003toz.3_Missense_Mutation_p.G204V|IKZF1_uc010kyx.2_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	234					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(74)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)								226				0.210526	9.291654	10.76292	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50455154	50455154	7915	7	G	T	T	T	546	42	IKZF1	2	2
ZNF479	90827	broad.mit.edu	37	7	57188238	57188238	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:57188238C>A	uc010kzo.2	-	c.884G>T	c.(883-885)AGA>ATA	p.R295I		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3			GBM - Glioblastoma multiforme(1;9.18e-12)											0.072289	-3.422219	12.21469	6	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57188238	57188238	18527	7	C	A	A	A	416	32	ZNF479	2	2
ZNF680	340252	broad.mit.edu	37	7	64004766	64004766	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:64004766C>A	uc003tta.2	-	c.75G>T	c.(73-75)GAG>GAT	p.E25D	ZNF680_uc010kzr.2_De_novo_Start_OutOfFrame|ZNF680_uc003ttb.2_Missense_Mutation_p.E25D	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)												0.047872	-23.381422	17.516699	9	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64004766	64004766	18682	7	C	A	A	A	311	24	ZNF680	2	2
ZNF273	10793	broad.mit.edu	37	7	64388164	64388164	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:64388164C>T	uc003tto.2	+	c.458C>T	c.(457-459)GCG>GTG	p.A153V	ZNF273_uc003ttl.2_Missense_Mutation_p.A88V|ZNF273_uc003ttn.2_Missense_Mutation_p.A88V	NM_021148	NP_066971	Q14593	ZN273_HUMAN	zinc finger protein 273	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)				Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)								0.207207	49.258562	58.08107	23	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64388164	64388164	18400	7	C	T	T	T	351	27	ZNF273	1	1
ZNF273	10793	broad.mit.edu	37	7	64388706	64388706	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:64388706A>T	uc003tto.2	+	c.1000A>T	c.(1000-1002)ACT>TCT	p.T334S	ZNF273_uc003ttl.2_Missense_Mutation_p.T269S|ZNF273_uc003ttn.2_Missense_Mutation_p.T269S	NM_021148	NP_066971	Q14593	ZN273_HUMAN	zinc finger protein 273	334	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)				Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)								0.282609	34.057155	36.00912	13	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64388706	64388706	18400	7	A	T	T	T	182	14	ZNF273	3	3
MAGI2	9863	broad.mit.edu	37	7	78131078	78131078	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:78131078C>T	uc003ugx.2	-	c.781G>A	c.(781-783)GCA>ACA	p.A261T	MAGI2_uc003ugy.2_Missense_Mutation_p.A261T|MAGI2_uc011kgr.1_Missense_Mutation_p.A93T|MAGI2_uc011kgs.1_Missense_Mutation_p.A98T	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	261	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)	5		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)												0.244444	23.596917	26.279807	11	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78131078	78131078	9574	7	C	T	T	T	325	25	MAGI2	2	2
HGF	3082	broad.mit.edu	37	7	81359038	81359038	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81359038C>A	uc003uhl.2	-	c.923G>T	c.(922-924)GGT>GTT	p.G308V	HGF_uc003uhm.2_Missense_Mutation_p.G303V	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	308	Kringle 3.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.096	7.399789	27.868019	12	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81359038	81359038	7369	7	C	A	A	A	234	18	HGF	2	2
CACNA2D1	781	broad.mit.edu	37	7	81689761	81689761	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81689761A>T	uc003uhr.1	-	c.862T>A	c.(862-864)TTC>ATC	p.F288I		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	288	Extracellular (Potential).|VWFA.					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)									0.129032	9.253337	17.567899	8	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81689761	81689761	2664	7	A	T	T	T	13	1	CACNA2D1	3	3
PCLO	27445	broad.mit.edu	37	7	82580055	82580055	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82580055C>A	uc003uhx.2	-	c.9849G>T	c.(9847-9849)CAG>CAT	p.Q3283H	PCLO_uc003uhv.2_Missense_Mutation_p.Q3283H|PCLO_uc010lec.2_Missense_Mutation_p.Q248H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3214	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.200957	92.227751	109.605412	42	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82580055	82580055	12003	7	C	A	A	A	311	24	PCLO	2	2
GRM3	2913	broad.mit.edu	37	7	86394633	86394633	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:86394633G>A	uc003uid.2	+	c.172G>A	c.(172-174)GGG>AGG	p.G58R	GRM3_uc010lef.2_Missense_Mutation_p.G56R|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	58	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				ovary(3)|central_nervous_system(2)	5	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GBM(52;969 1098 3139 52280)								0.091667	3.231446	23.397771	11	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86394633	86394633	7077	7	G	A	A	A	611	47	GRM3	2	2
DMTF1	9988	broad.mit.edu	37	7	86820288	86820288	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:86820288A>T	uc003uih.2	+	c.1439A>T	c.(1438-1440)GAC>GTC	p.D480V	DMTF1_uc003uii.2_Missense_Mutation_p.D214V|DMTF1_uc003uij.2_Missense_Mutation_p.D214V|DMTF1_uc011khb.1_Missense_Mutation_p.D392V|DMTF1_uc003uik.2_Non-coding_Transcript|DMTF1_uc003uil.2_Missense_Mutation_p.D480V|DMTF1_uc003uin.2_Missense_Mutation_p.D214V	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	480	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)													0.133333	5.492812	9.396688	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86820288	86820288	4774	7	A	T	T	T	130	10	DMTF1	3	3
ZNF804B	219578	broad.mit.edu	37	7	88963101	88963101	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:88963101G>T	uc011khi.1	+	c.805G>T	c.(805-807)GCA>TCA	p.A269S		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	269						intracellular	zinc ion binding			ovary(5)|pancreas(2)	7	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)											0.135135	7.247499	12.0239	5	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88963101	88963101	18769	7	G	T	T	T	598	46	ZNF804B	2	2
OCM2	4951	broad.mit.edu	37	7	97619369	97619369	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:97619369G>T	uc003upc.2	-	c.48C>A	c.(46-48)CTC>CTA	p.L16L		NM_006188	NP_006179	P0CE71	OCM2_HUMAN	oncomodulin-like	16							calcium ion binding				0														0.096154	4.271819	21.28288	10	94	KEEP	---	---	---	---	capture		Silent	SNP	97619369	97619369	11227	7	G	T	T	T	522	41	OCM2	2	2
TMEM130	222865	broad.mit.edu	37	7	98445783	98445783	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:98445783C>T	uc003upo.2	-	c.1204G>A	c.(1204-1206)GGG>AGG	p.G402R	TMEM130_uc011kiq.1_Missense_Mutation_p.G371R|TMEM130_uc011kir.1_Missense_Mutation_p.G390R|TMEM130_uc003upn.2_Missense_Mutation_p.G288R	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	402	Cytoplasmic (Potential).					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)											0.277778	76.207342	81.004958	30	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98445783	98445783	16574	7	C	T	T	T	273	21	TMEM130	2	2
TRRAP	8295	broad.mit.edu	37	7	98519430	98519430	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:98519430C>A	uc003upp.2	+	c.2677C>A	c.(2677-2679)CGT>AGT	p.R893S	TRRAP_uc011kis.1_Missense_Mutation_p.R893S|TRRAP_uc003upr.2_Missense_Mutation_p.R585S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	893			R -> C (in an ovarian serous carcinoma sample; somatic mutation).		histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.R893C(1)		ovary(9)|large_intestine(8)|central_nervous_system(6)|stomach(2)|lung(1)|liver(1)	27	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)							1847				0.13278	48.538291	80.09583	32	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98519430	98519430	17152	7	C	A	A	A	299	23	TRRAP	1	1
SMURF1	57154	broad.mit.edu	37	7	98643368	98643368	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:98643368C>A	uc003upu.1	-	c.1287G>T	c.(1285-1287)ATG>ATT	p.M429I	SMURF1_uc003upv.1_Missense_Mutation_p.M403I|SMURF1_uc003upt.2_Missense_Mutation_p.M403I	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	429	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)							444				0.235294	68.255599	75.8714	28	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98643368	98643368	15319	7	C	A	A	A	273	21	SMURF1	2	2
GAL3ST4	79690	broad.mit.edu	37	7	99758146	99758146	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99758146C>G	uc003utt.2	-	c.866G>C	c.(865-867)TGG>TCG	p.W289S	C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.W289S|GAL3ST4_uc010lgq.2_Missense_Mutation_p.W227S	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	289	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.065517	-13.928468	42.934473	19	271	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99758146	99758146	6464	7	C	G	G	G	273	21	GAL3ST4	3	3
GPC2	221914	broad.mit.edu	37	7	99773279	99773279	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99773279G>T	uc003utv.2	-	c.564C>A	c.(562-564)TAC>TAA	p.Y188*	GPC2_uc010lgr.2_Non-coding_Transcript|GPC2_uc003utw.1_Nonsense_Mutation_p.Y188*|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	glypican 2 precursor	188						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|pancreas(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.237288	31.219635	34.941917	14	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	99773279	99773279	6872	7	G	T	T	T	568	44	GPC2	5	2
RGS22	26166	broad.mit.edu	37	8	101076210	101076210	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:101076210G>T	uc003yjb.1	-	c.786C>A	c.(784-786)AAC>AAA	p.N262K	RGS22_uc003yja.1_Missense_Mutation_p.N81K|RGS22_uc003yjc.1_Missense_Mutation_p.N250K|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	262					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|breast(1)|central_nervous_system(1)	5			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)						p.N250K(NCIH1385-Tumor)	790				0.296196	306.416149	320.095578	109	259	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101076210	101076210	13779	8	G	T	T	T	620	48	RGS22	2	2
KLF10	7071	broad.mit.edu	37	8	103664175	103664175	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:103664175G>A	uc011lhk.1	-	c.385C>T	c.(385-387)CAC>TAC	p.H129Y	KLF10_uc011lhj.1_Missense_Mutation_p.H118Y	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	129					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			Esophageal Squamous(16;495 519 2144 16528 44005)						OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.072368	-10.211694	47.027479	22	282	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103664175	103664175	8650	8	G	A	A	A	585	45	KLF10	2	2
ATP6V1C1	528	broad.mit.edu	37	8	104065051	104065051	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:104065051G>T	uc003ykz.3	+	c.473_splice	c.e6+1	p.A158_splice	ATP6V1C1_uc010mbz.2_Splice_Site_SNP_p.A83_splice|ATP6V1C1_uc003yla.2_Splice_Site_SNP_p.A158_splice|ATP6V1C1_uc011lhl.1_Splice_Site_SNP_p.A83_splice	NM_001695	NP_001686			ATPase, H+ transporting, lysosomal V1 subunit						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism				0	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)											0.2	10.388495	12.062404	4	16	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	104065051	104065051	1199	8	G	T	T	T	520	40	ATP6V1C1	5	1
TRHR	7201	broad.mit.edu	37	8	110099840	110099840	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110099840C>T	uc003ymz.3	+	c.99C>T	c.(97-99)CTC>CTT	p.L33L		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	33	Helical; Name=1; (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity				0			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)											0.055172	-14.130305	16.084974	8	137	KEEP	---	---	---	---	capture		Silent	SNP	110099840	110099840	17024	8	C	T	T	T	366	29	TRHR	2	2
NUDCD1	84955	broad.mit.edu	37	8	110255375	110255375	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110255375C>G	uc003ynb.3	-	c.1615G>C	c.(1615-1617)GTA>CTA	p.V539L	NUDCD1_uc003yna.2_Missense_Mutation_p.V510L|NUDCD1_uc010mcl.2_Missense_Mutation_p.V452L	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	NudC domain containing 1 isoform 1	539										ovary(1)|breast(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)											0.066038	-8.400988	33.019521	14	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110255375	110255375	11127	8	C	G	G	G	260	20	NUDCD1	3	3
NUDCD1	84955	broad.mit.edu	37	8	110305674	110305674	+	Missense_Mutation	SNP	A	T	T	rs75876794	by1000genomes	TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110305674A>T	uc003ynb.3	-	c.539T>A	c.(538-540)ATA>AAA	p.I180K	NUDCD1_uc003yna.2_Missense_Mutation_p.I151K|NUDCD1_uc010mcl.2_Missense_Mutation_p.I93K|NUDCD1_uc010mcm.1_Missense_Mutation_p.I93K	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	NudC domain containing 1 isoform 1	180										ovary(1)|breast(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)											0.481928	131.099492	131.122873	40	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110305674	110305674	11127	8	A	T	T	T	208	16	NUDCD1	3	3
CSMD3	114788	broad.mit.edu	37	8	113241048	113241048	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113241048G>A	uc003ynu.2	-	c.10901C>T	c.(10900-10902)GCT>GTT	p.A3634V	CSMD3_uc003yns.2_Missense_Mutation_p.A2836V|CSMD3_uc003ynt.2_Missense_Mutation_p.A3594V|CSMD3_uc011lhx.1_Missense_Mutation_p.A3465V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3634	Helical; (Potential).					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.353659	85.148506	86.697819	29	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113241048	113241048	4087	8	G	A	A	A	442	34	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113246653	113246653	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113246653C>A	uc003ynu.2	-	c.10681G>T	c.(10681-10683)GTA>TTA	p.V3561L	CSMD3_uc003yns.2_Missense_Mutation_p.V2763L|CSMD3_uc003ynt.2_Missense_Mutation_p.V3521L|CSMD3_uc011lhx.1_Missense_Mutation_p.V3392L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3561	Extracellular (Potential).					integral to membrane|plasma membrane		p.V3561L(1)		ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.063545	-19.839359	39.464196	19	280	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113246653	113246653	4087	8	C	A	A	A	260	20	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113323338	113323339	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113323338_113323339CC>AA	uc003ynu.2	-	c.7753_7754GG>TT	c.(7753-7755)GGT>TTT	p.G2585F	CSMD3_uc003yns.2_Missense_Mutation_p.G1787F|CSMD3_uc003ynt.2_Missense_Mutation_p.G2545F|CSMD3_uc011lhx.1_Missense_Mutation_p.G2481F|CSMD3_uc003ynw.1_Missense_Mutation_p.G296F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2585	Extracellular (Potential).|Sushi 14.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52									p.G2585C(KMRC2-Tumor)	2888	TCGA Ovarian(7;0.080)			0.117647	21.055777	43.036372	18	135	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	113323338	113323339	4087	8	CC	AA	AA	AA	234	18	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113697661	113697661	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113697661C>A	uc003ynu.2	-	c.2456G>T	c.(2455-2457)GGA>GTA	p.G819V	CSMD3_uc003yns.2_Missense_Mutation_p.G91V|CSMD3_uc003ynt.2_Missense_Mutation_p.G779V|CSMD3_uc011lhx.1_Missense_Mutation_p.G715V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	819	Extracellular (Potential).|CUB 4.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.089552	0.796767	12.196716	6	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113697661	113697661	4087	8	C	A	A	A	390	30	CSMD3	2	2
FER1L6	654463	broad.mit.edu	37	8	124989713	124989713	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124989713C>A	uc003yqw.2	+	c.927C>A	c.(925-927)ATC>ATA	p.I309I		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	309	C2 2.|Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|skin(1)	7	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)											0.07716	-11.602373	47.753079	25	299	KEEP	---	---	---	---	capture		Silent	SNP	124989713	124989713	6052	8	C	A	A	A	408	32	FER1L6	2	2
FER1L6	654463	broad.mit.edu	37	8	125074234	125074234	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:125074234G>T	uc003yqw.2	+	c.3289G>T	c.(3289-3291)GCC>TCC	p.A1097S		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1097	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|skin(1)	7	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)											0.415929	268.063235	269.46779	94	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125074234	125074234	6052	8	G	T	T	T	598	46	FER1L6	2	2
TATDN1	83940	broad.mit.edu	37	8	125535238	125535238	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:125535238C>A	uc003yrf.2	-	c.28G>T	c.(28-30)GGT>TGT	p.G10C	TATDN1_uc003yre.2_Non-coding_Transcript|TATDN1_uc003yrd.2_Missense_Mutation_p.G10C|TATDN1_uc010mdm.2_Intron	NM_032026	NP_114415	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1 isoform a	10						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)											0.145161	30.373265	45.388095	18	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125535238	125535238	16113	8	C	A	A	A	273	21	TATDN1	2	2
ADCY8	114	broad.mit.edu	37	8	131896902	131896902	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:131896902G>T	uc003ytd.3	-	c.2017C>A	c.(2017-2019)CAT>AAT	p.H673N	ADCY8_uc010mds.2_Missense_Mutation_p.H673N	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	673	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	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)											0.145251	41.695966	63.463971	26	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131896902	131896902	301	8	G	T	T	T	624	48	ADCY8	2	2
TG	7038	broad.mit.edu	37	8	134025908	134025908	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:134025908G>C	uc003ytw.2	+	c.6461G>C	c.(6460-6462)TGT>TCT	p.C2154S	TG_uc010mdw.2_Missense_Mutation_p.C913S|TG_uc011ljb.1_Missense_Mutation_p.C523S|TG_uc011ljc.1_Missense_Mutation_p.C287S	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2154	Type IIIA.				hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)						1778				0.165746	76.135857	95.316534	30	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134025908	134025908	16341	8	G	C	C	C	624	48	TG	3	3
EIF2C2	27161	broad.mit.edu	37	8	141567245	141567245	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:141567245G>A	uc003yvn.2	-	c.969C>T	c.(967-969)CCC>CCT	p.P323P	EIF2C2_uc010men.2_Silent_p.P246P|EIF2C2_uc010meo.2_Silent_p.P323P	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	323	PAZ.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-microRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)											0.05618	-51.29073	59.327036	30	504	KEEP	---	---	---	---	capture		Silent	SNP	141567245	141567245	5195	8	G	A	A	A	548	43	EIF2C2	2	2
BAI1	575	broad.mit.edu	37	8	143570778	143570778	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143570778C>T	uc003ywm.2	+	c.2610C>T	c.(2608-2610)ATC>ATT	p.I870I		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	870	Extracellular (Potential).				axonogenesis|cell adhesion|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)									829				0.355856	226.470679	230.530623	79	143	KEEP	---	---	---	---	capture		Silent	SNP	143570778	143570778	1319	8	C	T	T	T	395	31	BAI1	1	1
ZC3H3	23144	broad.mit.edu	37	8	144621345	144621345	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144621345G>A	uc003yyd.2	-	c.192C>T	c.(190-192)TCC>TCT	p.S64S		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	64					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)											0.460145	375.460718	375.845059	127	149	KEEP	---	---	---	---	capture		Silent	SNP	144621345	144621345	18157	8	G	A	A	A	548	43	ZC3H3	2	2
GSDMD	79792	broad.mit.edu	37	8	144642025	144642025	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144642025C>T	uc003yyf.2	+	c.440C>T	c.(439-441)CCA>CTA	p.P147L	GSDMD_uc010mfe.2_Missense_Mutation_p.P99L|GSDMD_uc003yyi.2_Missense_Mutation_p.P99L|GSDMD_uc003yyg.2_Missense_Mutation_p.P99L|GSDMD_uc003yyh.2_Intron	NM_024736	NP_079012	P57764	GSDMD_HUMAN	gasdermin D	99											0														0.333333	90.968953	93.623379	36	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144642025	144642025	7099	8	C	T	T	T	273	21	GSDMD	2	2
CYC1	1537	broad.mit.edu	37	8	145150838	145150838	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145150838C>G	uc003zaz.3	+	c.232C>G	c.(232-234)CTG>GTG	p.L78V	CYC1_uc003zay.2_Missense_Mutation_p.L19V	NM_001916	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	78					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)									OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.125	27.016557	44.594389	16	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145150838	145150838	4300	8	C	G	G	G	415	32	CYC1	3	3
MYOM2	9172	broad.mit.edu	37	8	2054354	2054354	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2054354G>T	uc003wpx.3	+	c.2965G>T	c.(2965-2967)GGA>TGA	p.G989*	MYOM2_uc011kwi.1_Nonsense_Mutation_p.G414*	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	989	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)	5		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)										0.173913	15.568218	20.189353	8	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	2054354	2054354	10487	8	G	T	T	T	507	39	MYOM2	5	1
DOCK5	80005	broad.mit.edu	37	8	25226115	25226115	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:25226115C>T	uc003xeg.2	+	c.3312C>T	c.(3310-3312)TCC>TCT	p.S1104S	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.S818S|DOCK5_uc003xei.2_Silent_p.S674S|DOCK5_uc003xej.2_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1104						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		Pancreas(145;34 1887 3271 10937 30165)								0.166667	16.066314	21.126857	8	40	KEEP	---	---	---	---	capture		Silent	SNP	25226115	25226115	4874	8	C	T	T	T	262	21	DOCK5	2	2
CSMD1	64478	broad.mit.edu	37	8	3000072	3000072	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:3000072G>A	uc011kwk.1	-	c.6159C>T	c.(6157-6159)GCC>GCT	p.A2053A	CSMD1_uc011kwj.1_Silent_p.A1445A|CSMD1_uc010lrg.2_Silent_p.A121A	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2053	Extracellular (Potential).|CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.092105	3.263328	15.9997	7	69	KEEP	---	---	---	---	capture		Silent	SNP	3000072	3000072	4085	8	G	A	A	A	548	43	CSMD1	2	2
TEX15	56154	broad.mit.edu	37	8	30703267	30703267	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30703267C>A	uc003xil.2	-	c.3267G>T	c.(3265-3267)GTG>GTT	p.V1089V		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1089	Ser-rich.									ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.185185	11.257942	13.767547	5	22	KEEP	---	---	---	---	capture		Silent	SNP	30703267	30703267	16306	8	C	A	A	A	210	17	TEX15	2	2
FUT10	84750	broad.mit.edu	37	8	33246764	33246764	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:33246764C>G	uc003xjc.2	-	c.950G>C	c.(949-951)AGC>ACC	p.S317T	FUT10_uc003xjd.2_Missense_Mutation_p.S282T|FUT10_uc003xje.2_Missense_Mutation_p.S310T|FUT10_uc011lbi.1_Missense_Mutation_p.S360T|FUT10_uc003xjf.2_Missense_Mutation_p.S248T|FUT10_uc003xjg.2_Missense_Mutation_p.S282T|FUT10_uc003xjh.2_Missense_Mutation_p.S310T	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	310	Lumenal (Potential).				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)										0.309091	54.348698	56.138406	17	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33246764	33246764	6353	8	C	G	G	G	364	28	FUT10	3	3
GPR124	25960	broad.mit.edu	37	8	37692865	37692865	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:37692865C>T	uc003xkj.2	+	c.1782C>T	c.(1780-1782)TTC>TTT	p.F594F	GPR124_uc010lvy.2_Intron	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	594	Extracellular (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)											0.471698	73.165401	73.202604	25	28	KEEP	---	---	---	---	capture		Silent	SNP	37692865	37692865	6912	8	C	T	T	T	389	30	GPR124	2	2
ADAM18	8749	broad.mit.edu	37	8	39535050	39535050	+	Silent	SNP	A	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:39535050A>G	uc003xni.2	+	c.1626A>G	c.(1624-1626)GAA>GAG	p.E542E	ADAM18_uc010lww.2_Non-coding_Transcript|ADAM18_uc010lwx.2_Silent_p.E518E	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	542	Cys-rich.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|ovary(1)|kidney(1)|skin(1)	5		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)							493				0.257143	27.860621	29.730231	9	26	KEEP	---	---	---	---	capture		Silent	SNP	39535050	39535050	240	8	A	G	G	G	24	2	ADAM18	4	4
ANK1	286	broad.mit.edu	37	8	41525854	41525854	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41525854C>A	uc003xom.2	-	c.5448G>T	c.(5446-5448)AGG>AGT	p.R1816S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.R929S|ANK1_uc003xoi.2_Missense_Mutation_p.R1775S|ANK1_uc003xoj.2_Missense_Mutation_p.R1775S|ANK1_uc003xok.2_Missense_Mutation_p.R1775S|ANK1_uc003xol.2_Missense_Mutation_p.R1613S	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	1775	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)|breast(1)	8	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)											0.081871	-1.059537	29.357913	14	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41525854	41525854	623	8	C	A	A	A	285	22	ANK1	2	2
ANK1	286	broad.mit.edu	37	8	41548014	41548014	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41548014T>A	uc003xom.2	-	c.4085A>T	c.(4084-4086)AAC>ATC	p.N1362I	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.N637I|ANK1_uc003xoi.2_Missense_Mutation_p.N1321I|ANK1_uc003xoj.2_Missense_Mutation_p.N1321I|ANK1_uc003xok.2_Missense_Mutation_p.N1321I|ANK1_uc003xol.2_Missense_Mutation_p.N1321I	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	1321					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)|breast(1)	8	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)											0.564706	140.696577	141.005783	48	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41548014	41548014	623	8	T	A	A	A	780	60	ANK1	3	3
POTEA	340441	broad.mit.edu	37	8	43147871	43147871	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:43147871G>C	uc003xpz.1	+	c.244G>C	c.(244-246)GAT>CAT	p.D82H	POTEA_uc003xqa.1_Missense_Mutation_p.D82H	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	82										ovary(1)	1														0.219512	79.0581	87.97065	27	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43147871	43147871	12690	8	G	C	C	C	533	41	POTEA	3	3
SNTG1	54212	broad.mit.edu	37	8	51449291	51449291	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:51449291G>C	uc010lxy.1	+	c.603G>C	c.(601-603)AAG>AAC	p.K201N	SNTG1_uc003xqs.1_Missense_Mutation_p.K201N|SNTG1_uc010lxz.1_Missense_Mutation_p.K201N|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	201					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)												0.386617	327.10713	330.146661	104	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51449291	51449291	15374	8	G	C	C	C	438	34	SNTG1	3	3
CLVS1	157807	broad.mit.edu	37	8	62370920	62370920	+	Missense_Mutation	SNP	T	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:62370920T>G	uc003xuh.2	+	c.796T>G	c.(796-798)TTT>GTT	p.F266V	CLVS1_uc003xui.2_Non-coding_Transcript|CLVS1_uc010lyp.2_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	266	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(1)|skin(1)	2														0.168478	80.036101	99.163072	31	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62370920	62370920	3709	8	T	G	G	G	676	52	CLVS1	4	4
CPA6	57094	broad.mit.edu	37	8	68334754	68334754	+	Silent	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:68334754T>C	uc003xxq.3	-	c.1299A>G	c.(1297-1299)CTA>CTG	p.L433L	CPA6_uc003xxr.3_Silent_p.L189L	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	433					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)											0.104089	35.130046	77.061763	28	241	KEEP	---	---	---	---	capture		Silent	SNP	68334754	68334754	3932	8	T	C	C	C	782	61	CPA6	4	4
SLCO5A1	81796	broad.mit.edu	37	8	70617325	70617325	+	Silent	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:70617325T>C	uc003xyl.2	-	c.1563A>G	c.(1561-1563)CTA>CTG	p.L521L	SLCO5A1_uc010lzb.2_Silent_p.L466L|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Silent_p.L521L|SLCO5A1_uc010lzc.2_Silent_p.L466L	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	521	Helical; Name=9; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)	3	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)											0.166667	58.677542	72.571681	22	110	KEEP	---	---	---	---	capture		Silent	SNP	70617325	70617325	15228	8	T	C	C	C	626	49	SLCO5A1	4	4
EYA1	2138	broad.mit.edu	37	8	72184058	72184058	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72184058C>A	uc003xys.3	-	c.901G>T	c.(901-903)GGG>TGG	p.G301W	EYA1_uc003xyr.3_Missense_Mutation_p.G296W|EYA1_uc003xyt.3_Missense_Mutation_p.G268W|EYA1_uc010lzf.2_Missense_Mutation_p.G228W|EYA1_uc003xyu.2_Missense_Mutation_p.G301W|EYA1_uc011lfe.1_Missense_Mutation_p.G295W|EYA1_uc003xyv.2_Missense_Mutation_p.G179W	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	301					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)											0.065327	-23.745376	54.324523	26	372	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72184058	72184058	5522	8	C	A	A	A	273	21	EYA1	2	2
C8orf84	157869	broad.mit.edu	37	8	73993286	73993286	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:73993286G>T	uc003xzf.2	-	c.377C>A	c.(376-378)ACC>AAC	p.T126N		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	RPE-spondin precursor	126	TSP type-1.				immune response	extracellular region	polysaccharide binding|scavenger receptor activity				0														0.300216	365.797023	382.170566	139	324	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73993286	73993286	2553	8	G	T	T	T	572	44	C8orf84	2	2
STAU2	27067	broad.mit.edu	37	8	74464373	74464373	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:74464373G>A	uc003xzm.2	-	c.1404C>T	c.(1402-1404)CTC>CTT	p.L468L	STAU2_uc011lfg.1_Silent_p.L296L|STAU2_uc003xzn.2_Silent_p.L436L|STAU2_uc011lfh.1_Silent_p.L364L|STAU2_uc003xzo.2_Silent_p.L468L|STAU2_uc003xzp.2_Silent_p.L436L|STAU2_uc011lfi.1_Silent_p.L430L|STAU2_uc003xzq.2_Silent_p.L248L|STAU2_uc010lzk.2_Silent_p.L436L|STAU2_uc010lzl.1_Silent_p.L296L	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	staufen homolog 2 isoform e	468	Required for dendritic transport (By similarity).				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding				0	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)											0.071895	-8.10416	20.799957	11	142	KEEP	---	---	---	---	capture		Silent	SNP	74464373	74464373	15793	8	G	A	A	A	522	41	STAU2	2	2
HNF4G	3174	broad.mit.edu	37	8	76470801	76470801	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:76470801G>T	uc003yar.2	+	c.752G>T	c.(751-753)CGT>CTT	p.R251L	HNF4G_uc003yaq.2_Missense_Mutation_p.R214L	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	214					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)											0.433333	471.790461	473.066552	143	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76470801	76470801	7546	8	G	T	T	T	520	40	HNF4G	1	1
HNF4G	3174	broad.mit.edu	37	8	76472578	76472578	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:76472578G>T	uc003yar.2	+	c.1094_splice	c.e9-1	p.G365_splice	HNF4G_uc003yaq.2_Splice_Site_SNP_p.G328_splice	NM_004133	NP_004124			hepatocyte nuclear factor 4, gamma						endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)											0.426471	84.760654	85.082087	29	39	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	76472578	76472578	7546	8	G	T	T	T	455	35	HNF4G	5	2
ZFHX4	79776	broad.mit.edu	37	8	77616672	77616672	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77616672A>T	uc003yav.2	+	c.349A>T	c.(349-351)AGC>TGC	p.S117C	ZFHX4_uc003yat.1_Missense_Mutation_p.S117C|ZFHX4_uc003yau.1_Missense_Mutation_p.S117C|ZFHX4_uc003yaw.1_Missense_Mutation_p.S117C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	117					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.069909	-12.349064	50.508001	23	306	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77616672	77616672	18223	8	A	T	T	T	91	7	ZFHX4	3	3
ZFHX4	79776	broad.mit.edu	37	8	77765475	77765475	+	Silent	SNP	T	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77765475T>G	uc003yav.2	+	c.6183T>G	c.(6181-6183)TCT>TCG	p.S2061S	ZFHX4_uc003yau.1_Silent_p.S2106S|ZFHX4_uc003yaw.1_Silent_p.S2061S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2061					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.130435	4.608508	7.664469	3	20	KEEP	---	---	---	---	capture		Silent	SNP	77765475	77765475	18223	8	T	G	G	G	704	55	ZFHX4	4	4
CNGB3	54714	broad.mit.edu	37	8	87645092	87645092	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87645092C>A	uc003ydx.2	-	c.1208G>T	c.(1207-1209)CGA>CTA	p.R403L	CNGB3_uc010maj.2_Missense_Mutation_p.R265L	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	403	Cytoplasmic (Potential).		R -> Q (in macular degeneration).		signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3														0.255814	56.905727	61.559892	22	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87645092	87645092	3739	8	C	A	A	A	403	31	CNGB3	1	1
MMP16	4325	broad.mit.edu	37	8	89128873	89128873	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:89128873C>A	uc003yeb.3	-	c.946G>T	c.(946-948)GAC>TAC	p.D316Y	MMP16_uc003yec.2_Missense_Mutation_p.D316Y	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	316	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	5														0.082969	-1.366577	39.14938	19	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89128873	89128873	10045	8	C	A	A	A	377	29	MMP16	2	2
SLC26A7	115111	broad.mit.edu	37	8	92330508	92330508	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:92330508C>A	uc003yez.2	+	c.542C>A	c.(541-543)GCA>GAA	p.A181E	SLC26A7_uc003yex.2_Missense_Mutation_p.A181E|SLC26A7_uc003yey.2_Non-coding_Transcript|SLC26A7_uc003yfa.2_Missense_Mutation_p.A181E	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform b	181	Helical; (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)											0.054217	-16.445458	18.31382	9	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92330508	92330508	15019	8	C	A	A	A	325	25	SLC26A7	2	2
SLC26A7	115111	broad.mit.edu	37	8	92364058	92364058	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:92364058C>A	uc003yez.2	+	c.1161C>A	c.(1159-1161)TGC>TGA	p.C387*	SLC26A7_uc003yex.2_Nonsense_Mutation_p.C387*|SLC26A7_uc003yey.2_Non-coding_Transcript|SLC26A7_uc003yfa.2_Nonsense_Mutation_p.C387*	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform b	387	Helical; (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)											0.284483	84.427407	89.264356	33	83	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	92364058	92364058	15019	8	C	A	A	A	324	25	SLC26A7	5	2
COL15A1	1306	broad.mit.edu	37	9	101748080	101748080	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101748080G>T	uc004azb.1	+	c.334G>T	c.(334-336)GAC>TAC	p.D112Y	COL15A1_uc004aza.2_Missense_Mutation_p.D112Y	NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	112	TSP N-terminal.				angiogenesis|cell adhesion|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding|extracellular matrix structural constituent			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)												0.099099	5.637536	23.483702	11	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101748080	101748080	3810	9	G	T	T	T	585	45	COL15A1	2	2
GRIN3A	116443	broad.mit.edu	37	9	104449333	104449333	+	Silent	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104449333G>C	uc004bbp.1	-	c.849C>G	c.(847-849)ACC>ACG	p.T283T	GRIN3A_uc004bbq.1_Silent_p.T283T	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	283	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|central_nervous_system(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)					27				0.116667	20.607791	37.91711	14	106	KEEP	---	---	---	---	capture		Silent	SNP	104449333	104449333	7062	9	G	C	C	C	548	43	GRIN3A	3	3
SLC44A1	23446	broad.mit.edu	37	9	108136902	108136902	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:108136902C>A	uc004bcn.2	+	c.1518C>A	c.(1516-1518)ATC>ATA	p.I506I	SLC44A1_uc010mtk.1_Silent_p.I506I|SLC44A1_uc004bco.1_Silent_p.I298I	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	CDW92 antigen	506	Mitochondrial intermembrane (Potential).					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(3)|ovary(1)	4					Choline(DB00122)									0.092233	6.952484	41.457695	19	187	KEEP	---	---	---	---	capture		Silent	SNP	108136902	108136902	15132	9	C	A	A	A	369	29	SLC44A1	2	2
C9orf5	23731	broad.mit.edu	37	9	111870813	111870813	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:111870813G>A	uc004bdt.3	-	c.617C>T	c.(616-618)TCA>TTA	p.S206L	C9orf5_uc004bds.3_Non-coding_Transcript|C9orf5_uc004bdr.3_Missense_Mutation_p.S206L	NM_032012	NP_114401	Q9H330	CI005_HUMAN	hypothetical protein LOC23731	206						integral to membrane				central_nervous_system(1)	1		Myeloproliferative disorder(63;0.204)		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)										0.146341	8.635783	13.555228	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111870813	111870813	2601	9	G	A	A	A	585	45	C9orf5	2	2
KIAA0368	23392	broad.mit.edu	37	9	114156454	114156454	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:114156454G>A	uc004bfe.1	-	c.3442C>T	c.(3442-3444)CAC>TAC	p.H1148Y		NM_001080398	NP_001073867			KIAA0368 protein												0														0.5	23.297134	23.297134	8	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114156454	114156454	8478	9	G	A	A	A	611	47	KIAA0368	2	2
KIAA0368	23392	broad.mit.edu	37	9	114176853	114176853	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:114176853C>A	uc004bfe.1	-	c.2377G>T	c.(2377-2379)GAT>TAT	p.D793Y	KIAA0368_uc010muc.1_Missense_Mutation_p.D615Y	NM_001080398	NP_001073867			KIAA0368 protein												0														0.253623	71.125891	78.764784	35	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114176853	114176853	8478	9	C	A	A	A	390	30	KIAA0368	2	2
RGS3	5998	broad.mit.edu	37	9	116276913	116276913	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:116276913G>T	uc004bhq.2	+	c.1653G>T	c.(1651-1653)CTG>CTT	p.L551L	RGS3_uc004bhr.2_Silent_p.L439L|RGS3_uc004bhs.2_Silent_p.L441L|RGS3_uc004bht.2_Silent_p.L270L|RGS3_uc010muy.2_Silent_p.L270L|RGS3_uc004bhu.2_Silent_p.L177L	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	551					inactivation of MAPK activity|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3														0.136364	22.904952	36.943737	15	95	KEEP	---	---	---	---	capture		Silent	SNP	116276913	116276913	13780	9	G	T	T	T	600	47	RGS3	2	2
TNFSF8	944	broad.mit.edu	37	9	117666507	117666507	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117666507C>A	uc004bji.1	-	c.409G>T	c.(409-411)GGT>TGT	p.G137C		NM_001244	NP_001235	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily,	137	Extracellular (Potential).				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			lung(3)|ovary(1)	4														0.111765	19.604448	44.921861	19	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117666507	117666507	16852	9	C	A	A	A	273	21	TNFSF8	2	2
TYRP1	7306	broad.mit.edu	37	9	12694303	12694303	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:12694303G>T	uc003zkv.3	+	c.307G>T	c.(307-309)GGC>TGC	p.G103C		NM_000550	NP_000541	P17643	TYRP1_HUMAN	tyrosinase-related protein 1 precursor	103	Lumenal, melanosome (Potential).				melanin biosynthetic process|oxidation-reduction process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			lung(1)	1		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)										0.146341	10.622401	15.551588	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12694303	12694303	17373	9	G	T	T	T	507	39	TYRP1	1	1
SPTAN1	6709	broad.mit.edu	37	9	131369912	131369912	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131369912G>T	uc004bvm.3	+	c.4076G>T	c.(4075-4077)CGG>CTG	p.R1359L	SPTAN1_uc004bvl.3_Missense_Mutation_p.R1359L|SPTAN1_uc004bvn.3_Missense_Mutation_p.R1339L	NM_001130438	NP_001123910	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1359	Spectrin 15.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						NSCLC(120;833 1744 2558 35612 37579)				1105				0.224852	188.623198	212.134737	76	262	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131369912	131369912	15631	9	G	T	T	T	507	39	SPTAN1	1	1
LAMC3	10319	broad.mit.edu	37	9	133951287	133951287	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:133951287C>T	uc004caa.1	+	c.3564C>T	c.(3562-3564)TAC>TAT	p.Y1188Y		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1188	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)										0.560976	70.72816	70.860858	23	18	KEEP	---	---	---	---	capture		Silent	SNP	133951287	133951287	8939	9	C	T	T	T	246	19	LAMC3	1	1
NTNG2	84628	broad.mit.edu	37	9	135042221	135042221	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135042221G>T	uc004cbh.2	+	c.3G>T	c.(1-3)ATG>ATT	p.M1I		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	1					axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)										0.09607	10.563258	48.059737	22	207	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135042221	135042221	11110	9	G	T	T	T	598	46	NTNG2	2	2
DDX31	64794	broad.mit.edu	37	9	135521285	135521285	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135521285C>A	uc004cbq.1	-	c.1692G>T	c.(1690-1692)CAG>CAT	p.Q564H	DDX31_uc010mzu.1_Missense_Mutation_p.Q564H|DDX31_uc004cbr.1_Missense_Mutation_p.Q564H	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	564	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)										0.4	22.693677	22.869213	8	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135521285	135521285	4527	9	C	A	A	A	311	24	DDX31	2	2
LCN15	389812	broad.mit.edu	37	9	139658873	139658873	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139658873A>T	uc004cjd.2	-	c.68T>A	c.(67-69)CTG>CAG	p.L23Q		NM_203347	NP_976222	Q6UWW0	LCN15_HUMAN	lipocalin 15 precursor	23					lipid metabolic process	extracellular region	binding|transporter activity				0														0.413793	107.982613	108.547446	36	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139658873	139658873	9007	9	A	T	T	T	91	7	LCN15	3	3
EHMT1	79813	broad.mit.edu	37	9	140729344	140729344	+	Missense_Mutation	SNP	A	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140729344A>C	uc011mfc.1	+	c.3836A>C	c.(3835-3837)CAG>CCG	p.Q1279P	EHMT1_uc004coe.2_Missense_Mutation_p.Q184P	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1279					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)										0.282609	32.253199	34.208051	13	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140729344	140729344	5172	9	A	C	C	C	91	7	EHMT1	4	4
ADAMTSL1	92949	broad.mit.edu	37	9	18639381	18639381	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:18639381G>C	uc003zne.3	+	c.806G>C	c.(805-807)GGA>GCA	p.G269A	ADAMTSL1_uc003znb.2_Missense_Mutation_p.G269A|ADAMTSL1_uc003znc.3_Missense_Mutation_p.G269A	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	269						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|lung(1)	4				GBM - Glioblastoma multiforme(50;1.29e-17)										0.137931	7.779669	11.456388	4	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18639381	18639381	275	9	G	C	C	C	533	41	ADAMTSL1	3	3
AQP3	360	broad.mit.edu	37	9	33442495	33442495	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:33442495T>C	uc003zsx.2	-	c.514A>G	c.(514-516)ATC>GTC	p.I172V	SUGT1P1_uc010mjq.1_Intron|AQP3_uc003zsv.1_3'UTR|AQP3_uc003zsw.2_Missense_Mutation_p.I16V|AQP3_uc010mju.2_Intron	NM_004925	NP_004916	Q92482	AQP3_HUMAN	aquaporin 3	172	Helical; (Potential).				excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm|integral to membrane	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)										0.111111	8.349522	15.070154	5	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33442495	33442495	838	9	T	C	C	C	637	49	AQP3	4	4
UBE2R2	54926	broad.mit.edu	37	9	33917170	33917170	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:33917170G>A	uc003ztm.2	+	c.652G>A	c.(652-654)GAA>AAA	p.E218K		NM_017811	NP_060281	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme UBC3B	218	Asp/Glu-rich (acidic).				post-translational protein modification|protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity				0			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)										0.174157	56.201956	74.053051	31	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33917170	33917170	17429	9	G	A	A	A	585	45	UBE2R2	2	2
VCP	7415	broad.mit.edu	37	9	35062999	35062999	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35062999C>A	uc003zvy.2	-	c.787G>T	c.(787-789)GGA>TGA	p.G263*	VCP_uc003zvz.2_Non-coding_Transcript|VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Nonsense_Mutation_p.G218*	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	263					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding				0			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)											0.119114	49.942867	101.389054	43	318	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	35062999	35062999	17705	9	C	A	A	A	273	21	VCP	5	2
CA9	768	broad.mit.edu	37	9	35676078	35676078	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35676078C>G	uc003zxo.3	+	c.622C>G	c.(622-624)CCT>GCT	p.P208A	C9orf100_uc003zxl.2_5'Flank|CA9_uc003zxp.3_Missense_Mutation_p.P208A	NM_001216	NP_001207	Q16790	CAH9_HUMAN	carbonic anhydrase IX precursor	208	Extracellular.|Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			ovary(4)	4	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)											0.134615	15.404195	22.121204	7	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35676078	35676078	2640	9	C	G	G	G	390	30	CA9	3	3
TMEM8B	51754	broad.mit.edu	37	9	35853628	35853628	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35853628G>T	uc003zym.2	+	c.1210G>T	c.(1210-1212)GAC>TAC	p.D404Y	TMEM8B_uc003zyo.2_Missense_Mutation_p.D404Y	NM_001042589	NP_001036054	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B isoform a	404	Extracellular (Potential).				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			ovary(1)	1														0.104	14.690317	53.696551	26	224	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35853628	35853628	16755	9	G	T	T	T	533	41	TMEM8B	2	2
PAX5	5079	broad.mit.edu	37	9	36966699	36966699	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:36966699C>T	uc003zzo.1	-	c.627G>A	c.(625-627)CCG>CCA	p.P209P	PAX5_uc011lpt.1_5'UTR|PAX5_uc011lpu.1_Intron|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Silent_p.P209P|PAX5_uc011lpx.1_Silent_p.P143P|PAX5_uc011lpy.1_Silent_p.P101P|PAX5_uc010mls.1_Silent_p.P209P|PAX5_uc011lpz.1_Silent_p.P166P|PAX5_uc011lqa.1_Silent_p.P101P|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Silent_p.P209P|PAX5_uc010mlp.1_Silent_p.P209P|PAX5_uc011lqc.1_Silent_p.P166P|PAX5_uc010mlr.1_Silent_p.P209P	NM_016734	NP_057953	Q02548	PAX5_HUMAN	paired box 5	209					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)	PAX5/JAK2(18)	haematopoietic_and_lymphoid_tissue(139)|central_nervous_system(2)	141		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)						323				0.074074	-2.107496	12.980335	6	75	KEEP	---	---	---	---	capture		Silent	SNP	36966699	36966699	11902	9	C	T	T	T	392	31	PAX5	1	1
FAM75A3	727830	broad.mit.edu	37	9	40702836	40702836	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:40702836C>A	uc010mmj.2	+	c.493C>A	c.(493-495)CTG>ATG	p.L165M		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	hypothetical protein LOC727830	165	Pro-rich.					integral to membrane				ovary(2)	2				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)										0.088409	4.915528	92.297037	45	464	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40702836	40702836	5845	9	C	A	A	A	415	32	FAM75A3	2	2
RLN1	6013	broad.mit.edu	37	9	5339540	5339540	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5339540C>A	uc003zjb.1	-	c.207G>T	c.(205-207)GTG>GTT	p.V69V		NM_006911	NP_008842	P04808	REL1_HUMAN	relaxin 1 preproprotein	69					female pregnancy|signal transduction	extracellular region	hormone activity				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)										0.2	13.032683	15.544155	6	24	KEEP	---	---	---	---	capture		Silent	SNP	5339540	5339540	13868	9	C	A	A	A	262	21	RLN1	2	2
PDCD1LG2	80380	broad.mit.edu	37	9	5534754	5534754	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5534754C>A	uc011lmc.1	+	c.65C>A	c.(64-66)ACA>AAA	p.T22K	C9orf46_uc003zjd.2_Intron|PDCD1LG2_uc003zjg.3_Missense_Mutation_p.T22K|PDCD1LG2_uc011lmd.1_Missense_Mutation_p.T22K|PDCD1LG2_uc010mhp.1_Missense_Mutation_p.T22K|PDCD1LG2_uc010mho.1_Missense_Mutation_p.T22K	NM_025239	NP_079515	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2 precursor	22	Ig-like V-type.|Extracellular (Potential).				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity				0	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)										0.169643	39.855596	51.422301	19	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5534754	5534754	12039	9	C	A	A	A	221	17	PDCD1LG2	2	2
TPD52L3	89882	broad.mit.edu	37	9	6328619	6328619	+	Silent	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:6328619C>G	uc003zjw.2	+	c.24C>G	c.(22-24)ACC>ACG	p.T8T	TPD52L3_uc003zjv.2_Silent_p.T8T|TPD52L3_uc003zjx.1_Silent_p.T8T	NM_033516	NP_277051	Q96J77	TPD55_HUMAN	protein kinase NYD-SP25 isoform 1	8							protein binding				0		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)										0.134897	80.619981	124.687123	46	295	KEEP	---	---	---	---	capture		Silent	SNP	6328619	6328619	16944	9	C	G	G	G	301	24	TPD52L3	3	3
GLDC	2731	broad.mit.edu	37	9	6534752	6534752	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:6534752G>T	uc003zkc.2	-	c.2875C>A	c.(2875-2877)CAC>AAC	p.H959N		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	959					glycine catabolic process|oxidation-reduction 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)									0.162162	11.424301	15.441504	6	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6534752	6534752	6701	9	G	T	T	T	611	47	GLDC	2	2
KDM4C	23081	broad.mit.edu	37	9	6893233	6893233	+	Splice_Site_SNP	SNP	G	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:6893233G>C	uc003zkh.2	+	c.921_splice	c.e8+1	p.L307_splice	KDM4C_uc010mhu.2_Splice_Site_SNP_p.L329_splice|KDM4C_uc010mhw.2_Missense_Mutation_p.V308L|KDM4C_uc011lmi.1_Splice_Site_SNP_p.L307_splice|KDM4C_uc011lmj.1_Splice_Site_SNP|KDM4C_uc003zkg.2_Splice_Site_SNP_p.L307_splice|KDM4C_uc011lmk.1_Splice_Site_SNP_p.L126_splice	NM_015061	NP_055876			jumonji domain containing 2C isoform 1						oxidation-reduction process|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1														0.171429	30.954357	38.098769	12	58	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	6893233	6893233	8436	9	G	C	C	C	572	44	KDM4C	5	3
PGM5	5239	broad.mit.edu	37	9	71006561	71006561	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:71006561A>T	uc004agr.2	+	c.809A>T	c.(808-810)AAC>ATC	p.N270I		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	270					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2														0.1	4.144657	15.271535	7	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71006561	71006561	12224	9	A	T	T	T	26	2	PGM5	3	3
PTPRD	5789	broad.mit.edu	37	9	8633443	8633443	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8633443C>T	uc003zkk.2	-	c.226G>A	c.(226-228)GAT>AAT	p.D76N	PTPRD_uc003zkp.2_Missense_Mutation_p.D76N|PTPRD_uc003zkq.2_Missense_Mutation_p.D76N|PTPRD_uc003zkr.2_Missense_Mutation_p.D76N|PTPRD_uc003zks.2_Missense_Mutation_p.D76N|PTPRD_uc003zkl.2_Missense_Mutation_p.D76N|PTPRD_uc003zkm.2_Missense_Mutation_p.D76N|PTPRD_uc003zkn.2_Missense_Mutation_p.D76N|PTPRD_uc003zko.2_Missense_Mutation_p.D76N|PTPRD_uc003zkt.1_Missense_Mutation_p.D76N	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	76	Ig-like C2-type 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		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)						1253	TSP Lung(15;0.13)			0.173913	22.856292	29.784048	12	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8633443	8633443	13256	9	C	T	T	T	403	31	PTPRD	1	1
GOLM1	51280	broad.mit.edu	37	9	88651390	88651390	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:88651390C>A	uc004aol.2	-	c.630G>T	c.(628-630)CTG>CTT	p.L210L	GOLM1_uc004aom.2_Silent_p.L210L	NM_016548	NP_057632	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	210	Lumenal (Potential).					Golgi apparatus|integral to plasma membrane					0														0.092784	3.294637	19.487241	9	88	KEEP	---	---	---	---	capture		Silent	SNP	88651390	88651390	6840	9	C	A	A	A	314	25	GOLM1	2	2
C9orf79	286234	broad.mit.edu	37	9	90503661	90503661	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:90503661C>A	uc004app.3	+	c.4259C>A	c.(4258-4260)CCA>CAA	p.P1420Q		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	1420						integral to membrane				ovary(3)	3														0.074074	-4.324449	10.843721	6	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90503661	90503661	2613	9	C	A	A	A	273	21	C9orf79	2	2
ROR2	4920	broad.mit.edu	37	9	94487290	94487290	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:94487290C>A	uc004arj.1	-	c.1486G>T	c.(1486-1488)GCC>TCC	p.A496S	ROR2_uc004ari.1_Missense_Mutation_p.A356S	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	496	Cytoplasmic (Potential).|Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(6)|central_nervous_system(5)|ovary(3)|large_intestine(2)	16										461				0.2816	438.176521	465.020689	176	449	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94487290	94487290	14006	9	C	A	A	A	325	25	ROR2	2	2
WWC3	55841	broad.mit.edu	37	X	10078060	10078060	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:10078060G>T	uc004csx.3	+	c.974G>T	c.(973-975)AGG>ATG	p.R325M	WWC3_uc010nds.2_De_novo_Start_InFrame|WWC3_uc010ndt.2_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	325	Potential.									ovary(4)	4														0.152174	11.501207	16.824028	7	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10078060	10078060	17987	23	G	T	T	T	455	35	WWC3	2	2
WWC3	55841	broad.mit.edu	37	X	10096092	10096092	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:10096092C>T	uc004csx.3	+	c.2171C>T	c.(2170-2172)TCC>TTC	p.S724F	WWC3_uc010nds.2_Missense_Mutation_p.S388F|WWC3_uc010ndt.2_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	724										ovary(4)	4														0.086957	3.211979	34.959056	16	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10096092	10096092	17987	23	C	T	T	T	390	30	WWC3	2	2
NXF2B	728343	broad.mit.edu	37	X	101623784	101623784	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:101623784C>A	uc004ejb.3	-	c.578G>T	c.(577-579)TGT>TTT	p.C193F	NXF2B_uc004eiz.3_Missense_Mutation_p.C105F|NXF2B_uc004eja.3_Missense_Mutation_p.C193F|NXF2_uc004eiy.3_Missense_Mutation_p.C193F	NM_001099686	NP_001093156	Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	193	RRM.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|RNA binding			ovary(1)	1														0.102564	9.705629	28.128734	12	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101623784	101623784	11189	23	C	A	A	A	221	17	NXF2B	2	2
RAB9B	51209	broad.mit.edu	37	X	103080189	103080189	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:103080189C>G	uc004ell.1	-	c.526G>C	c.(526-528)GAG>CAG	p.E176Q	RAB9B_uc004eli.1_Intron	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	176					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding				0														0.121622	46.259657	77.403611	27	195	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103080189	103080189	13418	23	C	G	G	G	416	32	RAB9B	3	3
CXorf41	139212	broad.mit.edu	37	X	106486460	106486460	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:106486460C>A	uc004enc.2	+	c.577C>A	c.(577-579)CCA>ACA	p.P193T	CXorf41_uc004end.2_Missense_Mutation_p.P193T	NM_173494	NP_775765	Q9NQM4	CX041_HUMAN	hypothetical protein LOC139212	193											0														0.308333	99.025605	102.957348	37	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106486460	106486460	4271	23	C	A	A	A	286	22	CXorf41	2	2
COL4A6	1288	broad.mit.edu	37	X	107403709	107403709	+	Silent	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107403709G>T	uc004enw.3	-	c.4512C>A	c.(4510-4512)GCC>GCA	p.A1504A	COL4A6_uc004env.3_Silent_p.A1503A|COL4A6_uc011msn.1_Silent_p.A1479A|COL4A6_uc010npk.2_Silent_p.A1446A|COL4A6_uc011msm.1_5'Flank|COL4A6_uc010npj.2_Intron	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1504	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						Melanoma(87;1895 1945 2589 7165)								0.319277	129.285331	134.068352	53	113	KEEP	---	---	---	---	capture		Silent	SNP	107403709	107403709	3833	23	G	T	T	T	548	43	COL4A6	2	2
AMOT	154796	broad.mit.edu	37	X	112024186	112024186	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:112024186G>T	uc004epr.2	-	c.2401C>A	c.(2401-2403)CAC>AAC	p.H801N	AMOT_uc004eps.2_Missense_Mutation_p.H392N|AMOT_uc011mtc.1_Missense_Mutation_p.H41N	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	801					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1														0.09116	12.900462	73.887458	33	329	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112024186	112024186	585	23	G	T	T	T	611	47	AMOT	2	2
ODZ1	10178	broad.mit.edu	37	X	123516528	123516528	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123516528G>T	uc010nqy.2	-	c.7432C>A	c.(7432-7434)CCT>ACT	p.P2478T	ODZ1_uc011muj.1_Missense_Mutation_p.P2477T|ODZ1_uc004euj.2_Missense_Mutation_p.P2471T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	2471	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22										623				0.364238	145.16504	147.620575	55	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123516528	123516528	11239	23	G	T	T	T	533	41	ODZ1	2	2
DCAF12L2	340578	broad.mit.edu	37	X	125299720	125299720	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:125299720C>A	uc004euk.1	-	c.188G>T	c.(187-189)CGG>CTG	p.R63L		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	63										lung(2)|large_intestine(1)|ovary(1)|pancreas(1)	5														0.280702	38.463691	40.938054	16	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125299720	125299720	4436	23	C	A	A	A	299	23	DCAF12L2	1	1
ARHGAP36	158763	broad.mit.edu	37	X	130222674	130222674	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:130222674C>A	uc004evz.2	+	c.1559C>A	c.(1558-1560)CCT>CAT	p.P520H	ARHGAP36_uc004ewa.2_Missense_Mutation_p.P508H|ARHGAP36_uc004ewb.2_Missense_Mutation_p.P489H|ARHGAP36_uc004ewc.2_Missense_Mutation_p.P384H	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	520					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3														0.157143	16.491927	24.39414	11	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130222674	130222674	895	23	C	A	A	A	312	24	ARHGAP36	2	2
TFDP3	51270	broad.mit.edu	37	X	132351801	132351801	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:132351801G>T	uc004exb.1	-	c.487C>A	c.(487-489)CGC>AGC	p.R163S		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	163	Potential.|DEF box (By similarity).				regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.258621	78.799996	84.920642	30	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132351801	132351801	16327	23	G	T	T	T	494	38	TFDP3	1	1
GPC3	2719	broad.mit.edu	37	X	132730525	132730525	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:132730525T>A	uc010nrn.1	-	c.1585A>T	c.(1585-1587)ATT>TTT	p.I529F	GPC3_uc004exd.1_Missense_Mutation_p.I378F|GPC3_uc004exe.1_Missense_Mutation_p.I506F|GPC3_uc011mvh.1_Missense_Mutation_p.I490F|GPC3_uc010nro.1_Missense_Mutation_p.I452F	NM_004484	NP_004475	P51654	GPC3_HUMAN	glypican 3 isoform 2 precursor	506						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			lung(2)	2	Acute lymphoblastic leukemia(192;0.000127)									125				0.142857	71.020297	105.427123	40	240	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132730525	132730525	6873	23	T	A	A	A	663	51	GPC3	3	3
CXorf48	54967	broad.mit.edu	37	X	134303589	134303589	+	Silent	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134303589G>A	uc004eyk.1	-	c.208C>T	c.(208-210)CTA>TTA	p.L70L	CXorf48_uc004eyl.1_Silent_p.L70L	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN	hypothetical protein LOC54967 isoform 1	70											0	Acute lymphoblastic leukemia(192;0.000127)													0.208333	24.220946	28.004279	10	38	KEEP	---	---	---	---	capture		Silent	SNP	134303589	134303589	4272	23	G	A	A	A	425	33	CXorf48	2	2
MAGEC2	51438	broad.mit.edu	37	X	141291520	141291520	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:141291520C>A	uc004fbu.1	-	c.254G>T	c.(253-255)AGT>ATT	p.S85I		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	85	Ser-rich.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.326923	92.408641	95.174861	34	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141291520	141291520	9562	23	C	A	A	A	260	20	MAGEC2	2	2
SPANXN2	494119	broad.mit.edu	37	X	142795594	142795594	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142795594C>A	uc004fbz.2	-	c.84G>T	c.(82-84)CAG>CAT	p.Q28H		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	SPANX-N2 protein	28										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.284404	80.975049	85.526457	31	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142795594	142795594	15499	23	C	A	A	A	311	24	SPANXN2	2	2
CXorf1	9142	broad.mit.edu	37	X	144909468	144909468	+	Silent	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144909468C>A	uc004fch.2	+	c.273C>A	c.(271-273)GCC>GCA	p.A91A		NM_004709	NP_004700	O96002	CX001_HUMAN	hypothetical protein LOC9142	91											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.5	44.421599	44.421599	15	15	KEEP	---	---	---	---	capture		Silent	SNP	144909468	144909468	4260	23	C	A	A	A	301	24	CXorf1	2	2
GABRQ	55879	broad.mit.edu	37	X	151820222	151820222	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151820222C>A	uc004ffp.1	+	c.1135C>A	c.(1135-1137)CAA>AAA	p.Q379K		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	379						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.315385	109.705198	113.660026	41	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151820222	151820222	6426	23	C	A	A	A	325	25	GABRQ	2	2
ATP2B3	492	broad.mit.edu	37	X	152815041	152815042	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152815041_152815042GG>TT	uc004fht.1	+	c.1425_1426GG>TT	c.(1423-1428)ACGGGC>ACTTGC	p.G476C	ATP2B3_uc004fhs.1_Missense_Mutation_p.G476C	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	476	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.059091	-16.896579	27.872179	13	207	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	152815041	152815042	1160	23	GG	TT	TT	TT	496	39	ATP2B3	1	1
DUSP9	1852	broad.mit.edu	37	X	152914893	152914893	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152914893C>A	uc004fhx.3	+	c.580C>A	c.(580-582)CCC>ACC	p.P194T	DUSP9_uc004fhy.3_Missense_Mutation_p.P194T	NM_001395	NP_001386	Q99956	DUS9_HUMAN	dual specificity phosphatase 9	194					inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.37037	115.431763	117.00202	40	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152914893	152914893	5017	23	C	A	A	A	234	18	DUSP9	2	2
L1CAM	3897	broad.mit.edu	37	X	153135306	153135306	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153135306T>A	uc004fjb.2	-	c.1075A>T	c.(1075-1077)AGG>TGG	p.R359W	L1CAM_uc004fjc.2_Missense_Mutation_p.R359W|L1CAM_uc010nuo.2_Missense_Mutation_p.R354W|L1CAM_uc004fjd.1_Missense_Mutation_p.R173W|L1CAM_uc004fje.1_Missense_Mutation_p.R354W	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	359	Extracellular (Potential).|Ig-like C2-type 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.478261	33.223113	33.232578	11	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153135306	153135306	8911	23	T	A	A	A	713	55	L1CAM	3	3
HCFC1	3054	broad.mit.edu	37	X	153224149	153224149	+	Silent	SNP	C	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153224149C>T	uc004fjp.2	-	c.1674G>A	c.(1672-1674)AAG>AAA	p.K558K		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	558					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.122449	13.533903	27.230747	12	86	KEEP	---	---	---	---	capture		Silent	SNP	153224149	153224149	7273	23	C	T	T	T	415	32	HCFC1	2	2
DMD	1756	broad.mit.edu	37	X	31514907	31514907	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:31514907T>C	uc004dda.1	-	c.8545A>G	c.(8545-8547)AGG>GGG	p.R2849G	DMD_uc004dcq.1_Missense_Mutation_p.R120G|DMD_uc004dcr.1_Missense_Mutation_p.R389G|DMD_uc004dcs.1_Missense_Mutation_p.R389G|DMD_uc004dct.1_Missense_Mutation_p.R389G|DMD_uc004dcu.1_Missense_Mutation_p.R389G|DMD_uc004dcv.1_Missense_Mutation_p.R389G|DMD_uc004dcw.2_Missense_Mutation_p.R1505G|DMD_uc004dcx.2_Missense_Mutation_p.R1508G|DMD_uc004dcz.2_Missense_Mutation_p.R2726G|DMD_uc004dcy.1_Missense_Mutation_p.R2845G|DMD_uc004ddb.1_Missense_Mutation_p.R2841G	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2849	Spectrin 20.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.263158	15.675092	16.633244	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31514907	31514907	4760	23	T	C	C	C	687	53	DMD	4	4
MXRA5	25878	broad.mit.edu	37	X	3261795	3261795	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3261795C>A	uc004crg.3	-	c.80G>T	c.(79-81)TGC>TTC	p.C27F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	27	LRRNT.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.098039	2.938097	11.185521	5	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3261795	3261795	10397	23	C	A	A	A	325	25	MXRA5	2	2
FAM47A	158724	broad.mit.edu	37	X	34148158	34148158	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34148158C>G	uc004ddg.2	-	c.2238G>C	c.(2236-2238)AAG>AAC	p.K746N		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	746										ovary(4)|central_nervous_system(1)	5														0.183333	80.393806	97.314081	33	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34148158	34148158	5790	23	C	G	G	G	311	24	FAM47A	3	3
AKAP4	8852	broad.mit.edu	37	X	49958170	49958170	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49958170C>A	uc004dow.1	-	c.1194G>T	c.(1192-1194)ATG>ATT	p.M398I	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.M220I|AKAP4_uc004dou.1_Missense_Mutation_p.M389I	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	398					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)	7	Ovarian(276;0.236)									119				0.217949	39.040714	44.755304	17	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49958170	49958170	456	23	C	A	A	A	377	29	AKAP4	2	2
CCNB3	85417	broad.mit.edu	37	X	50051724	50051724	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50051724G>T	uc004dox.3	+	c.555G>T	c.(553-555)GAG>GAT	p.E185D	CCNB3_uc004doy.2_Missense_Mutation_p.E185D|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	185					cell division|meiosis	nucleus				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)													0.164384	22.251414	30.061253	12	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50051724	50051724	3041	23	G	T	T	T	451	35	CCNB3	2	2
FAM123B	139285	broad.mit.edu	37	X	63411430	63411430	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:63411430C>A	uc004dvo.2	-	c.1737G>T	c.(1735-1737)GAG>GAT	p.E579D		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	579					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|lung(2)|ovary(2)|liver(1)	110										85				0.166667	29.6383	39.753934	16	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63411430	63411430	5620	23	C	A	A	A	311	24	FAM123B	2	2
TAF1	6872	broad.mit.edu	37	X	70597538	70597538	+	Missense_Mutation	SNP	A	C	C			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70597538A>C	uc004dzt.3	+	c.860A>C	c.(859-861)CAC>CCC	p.H287P	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzu.3_Missense_Mutation_p.H266P	NM_004606	NP_004597	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 1	266	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|response to DNA damage stimulus|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(5)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	15	Renal(35;0.156)	all_lung(315;0.000321)								472				0.129032	22.536941	34.997135	12	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70597538	70597538	16034	23	A	C	C	C	78	6	TAF1	4	4
FAM46D	169966	broad.mit.edu	37	X	79698195	79698195	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:79698195G>A	uc004edl.1	+	c.157G>A	c.(157-159)GGG>AGG	p.G53R	FAM46D_uc004edm.1_Missense_Mutation_p.G53R	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	53										lung(2)	2														0.432432	52.794632	52.941957	16	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79698195	79698195	5789	23	G	A	A	A	455	35	FAM46D	2	2
PCDH11X	27328	broad.mit.edu	37	X	91134030	91134030	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91134030G>T	uc004efk.1	+	c.2791G>T	c.(2791-2793)GAC>TAC	p.D931Y	PCDH11X_uc004efl.1_Missense_Mutation_p.D931Y|PCDH11X_uc004efo.1_Missense_Mutation_p.D931Y|PCDH11X_uc010nmv.1_Missense_Mutation_p.D931Y|PCDH11X_uc004efm.1_Missense_Mutation_p.D931Y|PCDH11X_uc004efn.1_Missense_Mutation_p.D931Y|PCDH11X_uc004efh.1_Missense_Mutation_p.D931Y|PCDH11X_uc004efj.1_Missense_Mutation_p.D931Y	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	931	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.15	37.079892	53.532597	21	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91134030	91134030	11928	23	G	T	T	T	481	37	PCDH11X	1	1
NAP1L3	4675	broad.mit.edu	37	X	92928086	92928086	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:92928086C>G	uc004efq.2	-	c.218G>C	c.(217-219)CGC>CCC	p.R73P	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	73					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2														0.315789	19.844357	20.417148	6	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92928086	92928086	10554	23	C	G	G	G	351	27	NAP1L3	3	3
NAP1L3	4675	broad.mit.edu	37	X	92928088	92928088	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:92928088G>T	uc004efq.2	-	c.216C>A	c.(214-216)AGC>AGA	p.S72R	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	72	Ser-rich.				nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2														0.352941	15.443142	15.768098	6	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92928088	92928088	10554	23	G	T	T	T	542	42	NAP1L3	2	2
SHROOM2	357	broad.mit.edu	37	X	9862978	9862978	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:9862978G>T	uc004csu.1	+	c.1030G>T	c.(1030-1032)GCT>TCT	p.A344S		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	344	Poly-Ala.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	6		Hepatocellular(5;0.000888)												0.22807	29.847105	33.713566	13	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9862978	9862978	14789	23	G	T	T	T	546	42	SHROOM2	2	2
PCDH19	57526	broad.mit.edu	37	X	99551693	99551693	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:99551693G>T	uc010nmz.2	-	c.3029C>A	c.(3028-3030)CCC>CAC	p.P1010H	PCDH19_uc004efw.3_Missense_Mutation_p.P962H|PCDH19_uc004efx.3_Missense_Mutation_p.P963H	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	1010	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7														0.321839	71.265468	73.720247	28	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99551693	99551693	11934	23	G	T	T	T	559	43	PCDH19	2	2
C10orf71	118461	broad.mit.edu	37	10	50534969	50534970	+	Frame_Shift_Ins	INS	-	ACAC	ACAC	rs72337199		TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50534969_50534970insACAC	uc010qgp.1	+	c.2068_2069insACAC	c.(2068-2070)AACfs	p.N690fs		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	690											0														0.31			4	9		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	50534969	50534970	1651	10	-	ACAC	ACAC	ACAC	53	5	C10orf71	5	5
ANKRD5	63926	broad.mit.edu	37	20	10033777	10033778	+	Frame_Shift_Ins	INS	-	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:10033777_10033778insT	uc002wno.2	+	c.1888_1889insT	c.(1888-1890)GTTfs	p.V630fs	ANKRD5_uc002wnp.2_Frame_Shift_Ins_p.V630fs|ANKRD5_uc010gbz.2_Frame_Shift_Ins_p.V441fs	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	630	ANK 8.						calcium ion binding			ovary(1)|breast(1)	2														0.37			36	62		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	10033777	10033778	684	20	-	T	T	T	520	40	ANKRD5	5	5
IMPG2	50939	broad.mit.edu	37	3	100964923	100964923	+	Frame_Shift_Del	DEL	G	-	-			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:100964923_100964923delG	uc003duq.1	-	c.1266_1266delC	c.(1264-1266)CCCfs	p.P422fs	IMPG2_uc011bhe.1_Frame_Shift_Del_p.P285fs	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	422	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3														0.30			28	64		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	100964923	100964923	8030	3	G	-	-	-	444	35	IMPG2	5	5
GRID2	2895	broad.mit.edu	37	4	94693256	94693256	+	Frame_Shift_Del	DEL	C	-	-			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:94693256_94693256delC	uc011cdt.1	+	c.2631_2631delC	c.(2629-2631)CTCfs	p.L877fs	GRID2_uc011cdu.1_Frame_Shift_Del_p.L782fs	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	877	Cytoplasmic (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|large_intestine(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)									0.34			47	92		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	94693256	94693256	7050	4	C	-	-	-	379	30	GRID2	5	5
C6orf10	10665	broad.mit.edu	37	6	32260988	32260989	+	Frame_Shift_Ins	INS	-	T	T			TCGA-44-3918-01	TCGA-44-3918-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32260988_32260989insT	uc011dpy.1	-	c.1461_1462insA	c.(1459-1464)CAAGAAfs	p.Q487fs	C6orf10_uc011dpx.1_Intron	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	487_488	Lys-rich.					integral to membrane					0														0.34			83	159		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	32260988	32260989	2418	6	-	T	T	T	416	32	C6orf10	5	5
