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
NRAP	4892	broad.mit.edu	37	10	115364439	115364439	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115364439G>C	uc001lal.3	-	c.4156C>G	c.(4156-4158)CAC>GAC	p.H1386D	NRAP_uc009xyb.2_Missense_Mutation_p.H175D|NRAP_uc001laj.2_Missense_Mutation_p.H1386D|NRAP_uc001lak.2_Missense_Mutation_p.H1351D	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1386	Nebulin 36.					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)										0.081301	6.052262	28.013451	10	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115364439	115364439	11043	10	G	C	C	C	585	45	NRAP	3	3
PPAPDC1A	196051	broad.mit.edu	37	10	122334782	122334782	+	Silent	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:122334782C>T	uc001lev.1	+	c.585C>T	c.(583-585)TCC>TCT	p.S195S	PPAPDC1A_uc010qtd.1_Silent_p.S195S|PPAPDC1A_uc009xzl.1_Silent_p.S132S|PPAPDC1A_uc001lew.1_3'UTR|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Silent_p.S74S	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain	195	Phosphatase sequence motif III.|Helical; (Potential).					integral to membrane	phosphatidate phosphatase activity			breast(1)	1		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)										0.084211	10.527409	60.504277	24	261	KEEP	---	---	---	---	capture		Silent	SNP	122334782	122334782	12723	10	C	T	T	T	275	22	PPAPDC1A	2	2
SLC18A3	6572	broad.mit.edu	37	10	50819359	50819359	+	Silent	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50819359C>T	uc001jhw.2	+	c.573C>T	c.(571-573)TTC>TTT	p.F191F	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	191	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(1)	1														0.32	23.295042	24.012662	8	17	KEEP	---	---	---	---	capture		Silent	SNP	50819359	50819359	14923	10	C	T	T	T	402	31	SLC18A3	1	1
ANKRD16	54522	broad.mit.edu	37	10	5922263	5922263	+	Nonsense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:5922263G>C	uc010qat.1	-	c.926C>G	c.(925-927)TCA>TGA	p.S309*	ANKRD16_uc009xie.2_Intron|ANKRD16_uc009xif.2_Nonsense_Mutation_p.S309*|ANKRD16_uc001iiq.2_Intron	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16 isoform a	309	ANK 9.										0														0.078947	1.993038	8.873786	3	35	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	5922263	5922263	648	10	G	C	C	C	585	45	ANKRD16	5	3
DUPD1	338599	broad.mit.edu	37	10	76818123	76818123	+	Silent	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:76818123G>C	uc001jwq.1	-	c.150C>G	c.(148-150)CCC>CCG	p.P50P		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase	50						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)	2	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)													0.089744	5.515012	18.719812	7	71	KEEP	---	---	---	---	capture		Silent	SNP	76818123	76818123	4989	10	G	C	C	C	548	43	DUPD1	3	3
ZNF503	84858	broad.mit.edu	37	10	77160865	77160865	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:77160865C>T	uc001jxg.2	-	c.313G>A	c.(313-315)GAG>AAG	p.E105K	C10orf41_uc010qlf.1_5'Flank|C10orf41_uc010qlg.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)													0.157895	5.011266	7.133447	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77160865	77160865	18545	10	C	T	T	T	403	31	ZNF503	1	1
TAF3	83860	broad.mit.edu	37	10	8007006	8007006	+	Silent	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:8007006G>A	uc010qbd.1	+	c.1533G>A	c.(1531-1533)GAG>GAA	p.E511E		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	511	Lys-rich.				maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1														0.090909	11.819817	48.945755	20	200	KEEP	---	---	---	---	capture		Silent	SNP	8007006	8007006	16046	10	G	A	A	A	425	33	TAF3	2	2
PPIF	10105	broad.mit.edu	37	10	81112122	81112122	+	Silent	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:81112122C>T	uc001kai.2	+	c.462C>T	c.(460-462)TTC>TTT	p.F154F	PPIF_uc001kaj.2_Intron	NM_005729	NP_005720	P30405	PPIF_HUMAN	peptidylprolyl isomerase F precursor	154	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity				0	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)									0.066038	-4.466997	16.247195	7	99	KEEP	---	---	---	---	capture		Silent	SNP	81112122	81112122	12758	10	C	T	T	T	415	32	PPIF	2	2
IFIT1B	439996	broad.mit.edu	37	10	91144396	91144396	+	Silent	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:91144396C>T	uc001kgh.2	+	c.1326C>T	c.(1324-1326)CTC>CTT	p.L442L	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	interferon-induced protein with	442	TPR 8.						binding				0														0.2	246.643062	289.341881	102	408	KEEP	---	---	---	---	capture		Silent	SNP	91144396	91144396	7823	10	C	T	T	T	379	30	IFIT1B	2	2
MMS19	64210	broad.mit.edu	37	10	99238086	99238086	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:99238086G>C	uc001kns.3	-	c.323C>G	c.(322-324)TCT>TGT	p.S108C	MMS19_uc009xvt.2_De_novo_Start_OutOfFrame|MMS19_uc001knr.2_De_novo_Start_OutOfFrame|MMS19_uc010qox.1_Missense_Mutation_p.S129C|MMS19_uc001knt.2_Missense_Mutation_p.S108C|MMS19_uc001knu.1_5'Flank	NM_022362	NP_071757	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog	108					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity				0		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)										0.18	22.843083	27.658661	9	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99238086	99238086	10063	10	G	C	C	C	429	33	MMS19	3	3
AASDHPPT	60496	broad.mit.edu	37	11	105948530	105948530	+	Silent	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:105948530C>G	uc001pjc.1	+	c.93C>G	c.(91-93)GCC>GCG	p.A31A	KBTBD3_uc001pja.2_5'Flank|KBTBD3_uc001pjb.2_5'Flank|KBTBD3_uc009yxm.2_5'Flank|AASDHPPT_uc010rvn.1_Non-coding_Transcript	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde	31					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding				0		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)										0.136986	14.414826	23.717841	10	63	KEEP	---	---	---	---	capture		Silent	SNP	105948530	105948530	24	11	C	G	G	G	288	23	AASDHPPT	3	3
CTR9	9646	broad.mit.edu	37	11	10800443	10800443	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:10800443G>A	uc001mja.2	+	c.3313G>A	c.(3313-3315)GAA>AAA	p.E1105K		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	1105	Ser-rich.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)										0.308943	103.208292	107.207137	38	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10800443	10800443	4183	11	G	A	A	A	585	45	CTR9	2	2
ARCN1	372	broad.mit.edu	37	11	118468445	118468445	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118468445T>C	uc009zag.2	+	c.1388T>C	c.(1387-1389)ATC>ACC	p.I463T	ARCN1_uc009zah.2_Intron|ARCN1_uc001ptq.2_Missense_Mutation_p.I422T|ARCN1_uc010ryg.1_Missense_Mutation_p.I334T	NM_001142281	NP_001135753	P48444	COPD_HUMAN	archain isoform 2	422	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)										0.153846	22.008964	29.453583	10	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118468445	118468445	853	11	T	C	C	C	650	50	ARCN1	4	4
SLC17A6	57084	broad.mit.edu	37	11	22387212	22387212	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:22387212G>A	uc001mqk.2	+	c.868G>A	c.(868-870)GCA>ACA	p.A290T		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	290	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4														0.135135	48.188205	76.838876	30	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22387212	22387212	14917	11	G	A	A	A	598	46	SLC17A6	2	2
IMMP1L	196294	broad.mit.edu	37	11	31477921	31477921	+	Silent	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:31477921C>A	uc001msy.1	-	c.207G>T	c.(205-207)GTG>GTT	p.V69V	IMMP1L_uc001msz.1_Silent_p.V69V|IMMP1L_uc009yjo.2_Silent_p.V69V|IMMP1L_uc009yjp.2_Non-coding_Transcript	NM_144981	NP_659418	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane	69					proteolysis	mitochondrial inner membrane	serine-type peptidase activity				0	Lung SC(675;0.225)													0.203883	50.214181	58.599007	21	82	KEEP	---	---	---	---	capture		Silent	SNP	31477921	31477921	8017	11	C	A	A	A	366	29	IMMP1L	2	2
C11orf41	25758	broad.mit.edu	37	11	33565250	33565250	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33565250C>G	uc001mup.3	+	c.1250C>G	c.(1249-1251)TCT>TGT	p.S417C	C11orf41_uc001mun.1_Missense_Mutation_p.S417C	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	417						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)	0.330097	115.215914	117.850717	34	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33565250	33565250	1679	11	C	G	G	G	416	32	C11orf41	3	3
RAG1	5896	broad.mit.edu	37	11	36596881	36596881	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:36596881G>C	uc001mwu.3	+	c.2027G>C	c.(2026-2028)AGT>ACT	p.S676T	RAG1_uc001mwt.2_Non-coding_Transcript	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	676					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4	all_lung(20;0.226)	all_hematologic(20;0.107)				Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)				117				0.34375	191.117134	194.548681	55	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36596881	36596881	13463	11	G	C	C	C	468	36	RAG1	3	3
OR51A2	401667	broad.mit.edu	37	11	4976704	4976705	+	Missense_Mutation	DNP	CA	AT	AT			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4976704_4976705CA>AT	uc010qyt.1	-	c.239_240TG>AT	c.(238-240)CTG>CAT	p.L80H		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A,	80	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;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.461538	382.672834	383.008123	120	140	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	4976704	4976705	11496	11	CA	AT	AT	AT	314	25	OR51A2	2	2
OR4A5	81318	broad.mit.edu	37	11	51411989	51411989	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:51411989C>A	uc001nhi.1	-	c.407G>T	c.(406-408)CGA>CTA	p.R136L		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		all_lung(304;0.236)												0.115044	49.973681	99.474333	39	300	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51411989	51411989	11449	11	C	A	A	A	403	31	OR4A5	1	1
OR5D18	219438	broad.mit.edu	37	11	55587679	55587679	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55587679G>T	uc010rin.1	+	c.574G>T	c.(574-576)GAT>TAT	p.D192Y		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.086181	15.897828	132.700805	58	615	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55587679	55587679	11567	11	G	T	T	T	585	45	OR5D18	2	2
RAB3IL1	5866	broad.mit.edu	37	11	61674928	61674928	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61674928C>A	uc001nso.2	-	c.375G>T	c.(373-375)ATG>ATT	p.M125I	RAB3IL1_uc001nsp.2_Missense_Mutation_p.M172I	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	125	Potential.						protein binding			central_nervous_system(1)|skin(1)	2														0.153846	11.522564	15.992505	6	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61674928	61674928	13396	11	C	A	A	A	273	21	RAB3IL1	2	2
SPTBN2	6712	broad.mit.edu	37	11	66472402	66472402	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66472402G>A	uc001ojd.2	-	c.2345C>T	c.(2344-2346)ACG>ATG	p.T782M		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	782	Spectrin 5.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4														0.259259	36.424617	39.259498	14	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66472402	66472402	15634	11	G	A	A	A	520	40	SPTBN2	1	1
OVCH2	341277	broad.mit.edu	37	11	7718296	7718296	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7718296G>T	uc010rbf.1	-	c.976C>A	c.(976-978)CAC>AAC	p.H326N		NM_198185	NP_937828			ovochymase 2 precursor												0				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)										0.270833	35.152456	37.426883	13	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7718296	7718296	11737	11	G	T	T	T	598	46	OVCH2	2	2
FOLR4	390243	broad.mit.edu	37	11	94040706	94040706	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94040706C>T	uc010rud.1	+	c.580C>T	c.(580-582)CGG>TGG	p.R194W		NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN	folate receptor 4 (delta) homolog	201						extracellular region	folic acid binding|receptor activity			ovary(1)	1														0.101648	61.675823	176.874042	74	654	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94040706	94040706	6226	11	C	T	T	T	243	19	FOLR4	1	1
KLRC1	3821	broad.mit.edu	37	12	10599199	10599199	+	Nonsense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:10599199G>C	uc001qyl.2	-	c.653C>G	c.(652-654)TCA>TGA	p.S218*	KLRC1_uc009zhm.1_Nonsense_Mutation_p.S218*|KLRC1_uc001qym.2_Nonsense_Mutation_p.S200*|KLRC1_uc001qyn.2_Nonsense_Mutation_p.S218*|KLRC1_uc001qyo.2_Nonsense_Mutation_p.S200*	NM_002259	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C,	218	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0														0.206667	181.576241	205.501474	62	238	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10599199	10599199	8729	12	G	C	C	C	585	45	KLRC1	5	3
POLR3B	55703	broad.mit.edu	37	12	106890582	106890582	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:106890582G>T	uc001tlp.2	+	c.2870G>T	c.(2869-2871)AGA>ATA	p.R957I	POLR3B_uc001tlq.2_Missense_Mutation_p.R899I	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	957					innate immune response|positive regulation of 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	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2														0.141994	79.186808	120.105199	47	284	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106890582	106890582	12657	12	G	T	T	T	429	33	POLR3B	2	2
CORO1C	23603	broad.mit.edu	37	12	109051145	109051145	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109051145C>T	uc009zva.2	-	c.844G>A	c.(844-846)GAT>AAT	p.D282N	CORO1C_uc001tnj.2_Missense_Mutation_p.D229N|CORO1C_uc010sxf.1_Missense_Mutation_p.D192N	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	229					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(2)	2														0.138889	8.452526	12.987569	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109051145	109051145	3893	12	C	T	T	T	403	31	CORO1C	1	1
ATXN2	6311	broad.mit.edu	37	12	111893881	111893881	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:111893881G>T	uc001tsj.2	-	c.3696C>A	c.(3694-3696)CAC>CAA	p.H1232Q	ATXN2_uc001tsh.2_Missense_Mutation_p.H967Q|ATXN2_uc001tsi.2_Missense_Mutation_p.H925Q|ATXN2_uc001tsk.2_Non-coding_Transcript|ATXN2_uc001tsg.2_Missense_Mutation_p.H420Q|ATXN2_uc001tsl.1_Missense_Mutation_p.H233Q	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	1232					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2														0.216418	236.117072	265.927264	87	315	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111893881	111893881	1231	12	G	T	T	T	516	40	ATXN2	1	1
C12orf51	283450	broad.mit.edu	37	12	112600871	112600871	+	Silent	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:112600871C>T	uc009zwc.2	-	c.11829G>A	c.(11827-11829)AAG>AAA	p.K3943K		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)	1														0.140244	39.1118	59.606408	23	141	KEEP	---	---	---	---	capture		Silent	SNP	112600871	112600871	1740	12	C	T	T	T	415	32	C12orf51	2	2
C12orf51	283450	broad.mit.edu	37	12	112600874	112600874	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:112600874C>T	uc009zwc.2	-	c.11826G>A	c.(11824-11826)ATG>ATA	p.M3942I		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)	1														0.133333	33.628651	55.166321	22	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112600874	112600874	1740	12	C	T	T	T	377	29	C12orf51	2	2
PXN	5829	broad.mit.edu	37	12	120650309	120650309	+	Silent	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:120650309G>A	uc001txt.2	-	c.1584C>T	c.(1582-1584)CAC>CAT	p.H528H	PXN_uc001txu.2_Silent_p.H340H|PXN_uc001txv.2_Silent_p.H409H|PXN_uc001txx.2_Silent_p.H361H|PXN_uc001txy.2_Silent_p.H494H|PXN_uc001txz.2_Non-coding_Transcript	NM_001080855	NP_001074324	P49023	PAXI_HUMAN	paxillin isoform 1	528	LIM zinc-binding 3.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)									115				0.151515	9.755079	13.591303	5	28	KEEP	---	---	---	---	capture		Silent	SNP	120650309	120650309	13310	12	G	A	A	A	516	40	PXN	1	1
ACADS	35	broad.mit.edu	37	12	121175683	121175683	+	Silent	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:121175683C>T	uc001tza.3	+	c.516C>T	c.(514-516)GCC>GCT	p.A172A	ACADS_uc010szl.1_Intron|ACADS_uc001tzb.3_Silent_p.A99A	NM_000017	NP_000008	P16219	ACADS_HUMAN	short-chain acyl-CoA dehydrogenase precursor	172						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(2)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)									0.222222	19.598574	22.144081	8	28	KEEP	---	---	---	---	capture		Silent	SNP	121175683	121175683	115	12	C	T	T	T	288	23	ACADS	1	1
POLE	5426	broad.mit.edu	37	12	133257827	133257827	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133257827C>A	uc001uks.1	-	c.101G>T	c.(100-102)CGC>CTC	p.R34L	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.R34L	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	34					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)										0.20339	57.639563	67.27318	24	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133257827	133257827	12624	12	C	A	A	A	351	27	POLE	1	1
ANKLE2	23141	broad.mit.edu	37	12	133318046	133318046	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133318046T>C	uc001ukx.2	-	c.1379A>G	c.(1378-1380)AAA>AGA	p.K460R	ANKLE2_uc001uky.3_Missense_Mutation_p.K398R	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	460						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)										0.297872	93.666381	97.097447	28	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133318046	133318046	636	12	T	C	C	C	832	64	ANKLE2	4	4
SLCO1B3	28234	broad.mit.edu	37	12	21242939	21242939	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21242939G>T	uc010sil.1	+	c.2146G>T	c.(2146-2148)GAT>TAT	p.D716Y	LST-3TM12_uc010sim.1_Missense_Mutation_p.D655Y|LST-3TM12_uc010sin.1_Missense_Mutation_p.D608Y	LST3		Q9NPD5	SO1B3_HUMAN	SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;	655	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)	3	Esophageal squamous(101;0.149)													0.257426	66.699449	72.088349	26	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21242939	21242939	15221	12	G	T	T	T	533	41	SLCO1B3	2	2
ST8SIA1	6489	broad.mit.edu	37	12	22354963	22354963	+	Silent	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:22354963G>A	uc001rfo.3	-	c.594C>T	c.(592-594)AAC>AAT	p.N198N	ST8SIA1_uc009zix.2_Silent_p.N55N	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	198	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3														0.177778	34.442394	43.243719	16	74	KEEP	---	---	---	---	capture		Silent	SNP	22354963	22354963	15749	12	G	A	A	A	568	44	ST8SIA1	2	2
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398285C>A	uc001rgp.1	-	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(2374)|p.G12S(1078)|p.G12R(674)|p.G12?(50)|p.G12F(33)|p.G12D(15)|p.G12N(6)|p.G12V(6)|p.G12L(5)|p.G12I(3)|p.G12W(3)|p.G12A(2)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	p.G12R(PSN1-Tumor)|p.G12C(NCIH1373-Tumor)|p.G12C(NCIH1792-Tumor)|p.G12S(KMS20-Tumor)|p.G12C(HCC44-Tumor)|p.G12C(HCC1171-Tumor)|p.G12C(SW837-Tumor)|p.G12C(LU65-Tumor)|p.G12R(HUPT3-Tumor)|p.G12S(A549-Tumor)|p.G12C(NCIH2122-Tumor)|p.G12R(KP2-Tumor)|p.G12C(OV56-Tumor)|p.G12C(IALM-Tumor)|p.G12C(SW1463-Tumor)|p.G12C(SW1573-Tumor)|p.G12R(NCIH1339-Tumor)|p.G12C(NCIH23-Tumor)|p.G12C(MIAPACA2-Tumor)|p.G12C(CALU1-Tumor)|p.G12C(NCIH2030-Tumor)|p.G12S(LS123-Tumor)|p.G12C(KYSE410-Tumor)|p.G12C(UMUC3-Tumor)|p.G12C(NCIH2291-Tumor)|p.G12R(TCCPAN2-Tumor)|p.G12C(KHM1B-Tumor)|p.G12C(LU99-Tumor)|p.G12C(NCIH358-Tumor)|p.G12C(NCIH1385-Tumor)|p.G12R(CAL62-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.181818	18.371462	22.557435	8	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398285	25398285	8753	12	C	A	A	A	273	21	KRAS	2	2
ADAMTS20	80070	broad.mit.edu	37	12	43945637	43945637	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43945637G>T	uc010skx.1	-	c.88C>A	c.(88-90)CAA>AAA	p.Q30K		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	30						proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)						2149				0.198347	54.926573	65.178667	24	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43945637	43945637	267	12	G	T	T	T	598	46	ADAMTS20	2	2
CALCOCO1	57658	broad.mit.edu	37	12	54119004	54119004	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54119004C>A	uc001sef.2	-	c.23G>T	c.(22-24)CGG>CTG	p.R8L	CALCOCO1_uc010som.1_Missense_Mutation_p.R8L|CALCOCO1_uc010son.1_5'UTR|CALCOCO1_uc001seh.2_Missense_Mutation_p.R8L|CALCOCO1_uc009znd.2_Missense_Mutation_p.R8L|CALCOCO1_uc001seg.2_5'UTR|CALCOCO1_uc010soo.1_Missense_Mutation_p.R8L	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	8	p300 KIX-binding (By similarity).|N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1														0.307692	63.179237	65.319994	20	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54119004	54119004	2693	12	C	A	A	A	299	23	CALCOCO1	1	1
SUOX	6821	broad.mit.edu	37	12	56397873	56397873	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56397873G>A	uc001six.2	+	c.700G>A	c.(700-702)GTA>ATA	p.V234I	SUOX_uc001siy.2_Missense_Mutation_p.V234I|SUOX_uc001siz.2_Missense_Mutation_p.V234I|SUOX_uc001sja.2_Missense_Mutation_p.V234I	NM_000456	NP_000447	P51687	SUOX_HUMAN	sulfite oxidase precursor	234	Molybdenum-pterin domain (By similarity).				oxidation-reduction process	mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)											0.2	37.081731	43.359512	15	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56397873	56397873	15915	12	G	A	A	A	520	40	SUOX	1	1
PHB2	11331	broad.mit.edu	37	12	7077178	7077178	+	Silent	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7077178G>A	uc001qsd.2	-	c.484C>T	c.(484-486)CTG>TTG	p.L162L	PHB2_uc010sft.1_Silent_p.L162L|PHB2_uc010sfu.1_Silent_p.L162L|PHB2_uc001qse.1_5'Flank|PHB2_uc001qsf.1_5'Flank|PHB2_uc009zfn.1_5'Flank|SCARNA12_uc001qsg.2_5'Flank	NM_001144831	NP_001138303	Q99623	PHB2_HUMAN	prohibitin 2 isoform 1	162	Necessary for transcriptional repression.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity|specific transcriptional repressor activity			ovary(2)|pancreas(1)	3														0.30303	31.137396	32.280139	10	23	KEEP	---	---	---	---	capture		Silent	SNP	7077178	7077178	12238	12	G	A	A	A	451	35	PHB2	2	2
KCNC2	3747	broad.mit.edu	37	12	75442065	75442065	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:75442065G>T	uc001sxg.1	-	c.1648C>A	c.(1648-1650)CCG>ACG	p.P550T	KCNC2_uc009zry.2_Missense_Mutation_p.P550T|KCNC2_uc001sxe.2_Missense_Mutation_p.P550T|KCNC2_uc001sxf.2_Intron|KCNC2_uc010stw.1_Intron	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	550	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6														0.162304	60.493431	81.211331	31	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75442065	75442065	8320	12	G	T	T	T	546	42	KCNC2	2	2
NAV3	89795	broad.mit.edu	37	12	78452814	78452814	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78452814G>T	uc001syp.2	+	c.2555G>T	c.(2554-2556)AGT>ATT	p.S852I	NAV3_uc001syo.2_Missense_Mutation_p.S852I|NAV3_uc010sub.1_Missense_Mutation_p.S352I	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	852						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.110619	31.60865	65.499566	25	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78452814	78452814	10581	12	G	T	T	T	468	36	NAV3	2	2
MGAT4C	25834	broad.mit.edu	37	12	86373302	86373302	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:86373302C>G	uc010sum.1	-	c.1274G>C	c.(1273-1275)CGG>CCG	p.R425P	MGAT4C_uc001tal.3_Missense_Mutation_p.R401P|MGAT4C_uc001taj.3_Missense_Mutation_p.R401P|MGAT4C_uc001tak.3_Missense_Mutation_p.R401P|MGAT4C_uc001tai.3_Missense_Mutation_p.R401P|MGAT4C_uc001tah.3_Missense_Mutation_p.R401P	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	401	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3														0.219512	52.809148	58.748177	18	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86373302	86373302	9937	12	C	G	G	G	299	23	MGAT4C	3	3
CUL4A	8451	broad.mit.edu	37	13	113883759	113883759	+	Splice_Site_SNP	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:113883759G>C	uc010tjy.1	+	c.439_splice	c.e6-1	p.I147_splice	CUL4A_uc010tjx.1_Splice_Site_SNP_p.I47_splice|CUL4A_uc010agu.2_Splice_Site_SNP|CUL4A_uc001vth.2_Splice_Site_SNP|CUL4A_uc001vtj.2_Splice_Site_SNP	NM_001008895	NP_001008895			cullin 4A isoform 1						cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)											0.136842	27.106213	39.234275	13	82	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	113883759	113883759	4217	13	G	C	C	C	429	33	CUL4A	5	3
CUL4A	8451	broad.mit.edu	37	13	113897452	113897452	+	Silent	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:113897452C>T	uc010tjy.1	+	c.1206C>T	c.(1204-1206)CCC>CCT	p.P402P	CUL4A_uc010tjx.1_Silent_p.P302P|CUL4A_uc010agu.2_Silent_p.P263P|CUL4A_uc010tjz.1_Silent_p.P81P	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1	402					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)											0.084158	-4.603389	30.974224	17	185	KEEP	---	---	---	---	capture		Silent	SNP	113897452	113897452	4217	13	C	T	T	T	262	21	CUL4A	2	2
RXFP2	122042	broad.mit.edu	37	13	32349457	32349457	+	Missense_Mutation	SNP	A	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:32349457A>G	uc001utt.2	+	c.572A>G	c.(571-573)TAT>TGT	p.Y191C	RXFP2_uc010aba.2_Missense_Mutation_p.Y174C	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	191	LRR 3.|Extracellular (Potential).					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)										0.151408	104.542789	137.584742	43	241	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32349457	32349457	14240	13	A	G	G	G	208	16	RXFP2	4	4
AHNAK2	113146	broad.mit.edu	37	14	105419327	105419327	+	Silent	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105419327G>A	uc010axc.1	-	c.2461C>T	c.(2461-2463)CTG>TTG	p.L821L	AHNAK2_uc001ypx.2_Silent_p.L721L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	821						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.161491	54.254498	71.797655	26	135	KEEP	---	---	---	---	capture		Silent	SNP	105419327	105419327	418	14	G	A	A	A	451	35	AHNAK2	2	2
POTEG	404785	broad.mit.edu	37	14	19563533	19563533	+	Missense_Mutation	SNP	T	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:19563533T>G	uc001vuz.1	+	c.1047T>G	c.(1045-1047)CAT>CAG	p.H349Q	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	349				H -> R (in Ref. 1; AAS58868/AAS58871).						ovary(1)	1														0.032143	-135.832534	65.156915	27	813	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19563533	19563533	12696	14	T	G	G	G	647	50	POTEG	4	4
MMP14	4323	broad.mit.edu	37	14	23311752	23311752	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23311752G>C	uc001whc.2	+	c.514G>C	c.(514-516)GAG>CAG	p.E172Q		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	172	Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)										0.232558	28.027012	30.843663	10	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23311752	23311752	10043	14	G	C	C	C	585	45	MMP14	3	3
LRFN5	145581	broad.mit.edu	37	14	42360651	42360651	+	Silent	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:42360651C>G	uc001wvm.2	+	c.1584C>G	c.(1582-1584)ACC>ACG	p.T528T	LRFN5_uc010ana.2_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	528	Extracellular (Potential).					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)										0.107937	90.817409	186.848915	68	562	KEEP	---	---	---	---	capture		Silent	SNP	42360651	42360651	9314	14	C	G	G	G	262	21	LRFN5	3	3
MAP4K5	11183	broad.mit.edu	37	14	50935437	50935437	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:50935437C>A	uc001wya.2	-	c.606G>T	c.(604-606)TGG>TGT	p.W202C	MAP4K5_uc001wyb.2_Missense_Mutation_p.W202C|MAP4K5_uc010anv.1_Missense_Mutation_p.W202C	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase	202	Protein kinase.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(1)	1	all_epithelial(31;0.000415)|Breast(41;0.0102)									635				0.192308	34.479663	41.375631	15	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50935437	50935437	9646	14	C	A	A	A	286	22	MAP4K5	2	2
TRMT5	57570	broad.mit.edu	37	14	61446167	61446167	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:61446167G>C	uc001xff.3	-	c.449C>G	c.(448-450)TCC>TGC	p.S150C	SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	150						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)										0.206107	74.066239	84.544819	27	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61446167	61446167	17117	14	G	C	C	C	533	41	TRMT5	3	3
PPP2R5E	5529	broad.mit.edu	37	14	63888788	63888788	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:63888788G>C	uc001xgd.1	-	c.379C>G	c.(379-381)CTC>GTC	p.L127V	PPP2R5E_uc010tsf.1_Missense_Mutation_p.L51V|PPP2R5E_uc010tsg.1_Missense_Mutation_p.L51V|PPP2R5E_uc001xge.2_Missense_Mutation_p.L127V|PPP2R5E_uc010tsh.1_Missense_Mutation_p.L127V|PPP2R5E_uc001xgf.1_Non-coding_Transcript	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	127					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)										0.10396	29.714769	61.248946	21	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63888788	63888788	12832	14	G	C	C	C	429	33	PPP2R5E	3	3
AKAP5	9495	broad.mit.edu	37	14	64935712	64935712	+	Silent	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64935712C>T	uc001xhd.3	+	c.600C>T	c.(598-600)AGC>AGT	p.S200S	ZBTB25_uc001xhc.2_Intron	NM_004857	NP_004848	P24588	AKAP5_HUMAN	A-kinase anchor protein 5	200					energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding				0				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)										0.182796	35.414129	44.204647	17	76	KEEP	---	---	---	---	capture		Silent	SNP	64935712	64935712	457	14	C	T	T	T	324	25	AKAP5	2	2
HSPA2	3306	broad.mit.edu	37	14	65008589	65008589	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:65008589G>T	uc001xhj.2	+	c.1022G>T	c.(1021-1023)GGC>GTC	p.G341V	HSPA2_uc001xhk.3_Missense_Mutation_p.G341V	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	341					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		Pancreas(136;1211 1835 24894 31984 38227)								0.175	14.699169	18.685241	7	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65008589	65008589	7710	14	G	T	T	T	546	42	HSPA2	2	2
FUT8	2530	broad.mit.edu	37	14	66208847	66208847	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:66208847C>T	uc001xin.2	+	c.1447C>T	c.(1447-1449)CAT>TAT	p.H483Y	FUT8_uc001xio.2_Missense_Mutation_p.H483Y|FUT8_uc010tsp.1_Missense_Mutation_p.H320Y|FUT8_uc001xir.3_Non-coding_Transcript|FUT8_uc001xip.2_Missense_Mutation_p.H483Y|FUT8_uc001xiq.2_Missense_Mutation_p.H354Y|FUT8_uc001xis.2_Missense_Mutation_p.H77Y	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	483	Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)										0.12749	49.614178	83.580031	32	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66208847	66208847	6361	14	C	T	T	T	221	17	FUT8	2	2
LIN52	91750	broad.mit.edu	37	14	74551687	74551687	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:74551687C>G	uc001xpp.2	+	c.22C>G	c.(22-24)CCC>GCC	p.P8A	LIN52_uc010asb.2_Non-coding_Transcript|ALDH6A1_uc001xpo.2_5'Flank|ALDH6A1_uc010asa.2_5'Flank|ALDH6A1_uc010tuq.1_5'Flank	NM_001024674	NP_001019845	Q52LA3	LIN52_HUMAN	lin-52 homolog	8										breast(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00471)										0.088353	17.048552	59.708322	22	227	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74551687	74551687	9135	14	C	G	G	G	390	30	LIN52	3	3
KIAA0317	9870	broad.mit.edu	37	14	75142464	75142464	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75142464C>T	uc001xqb.2	-	c.1018G>A	c.(1018-1020)GAG>AAG	p.E340K	KIAA0317_uc010tut.1_Missense_Mutation_p.E179K|KIAA0317_uc001xqc.2_Missense_Mutation_p.E340K	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	340					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)										0.054867	-57.876766	60.091382	31	534	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75142464	75142464	8474	14	C	T	T	T	377	29	KIAA0317	2	2
C14orf178	283579	broad.mit.edu	37	14	78235900	78235900	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:78235900C>G	uc001xug.1	+	c.248C>G	c.(247-249)TCT>TGT	p.S83C	C14orf178_uc001xuh.1_Non-coding_Transcript	NM_174943	NP_777603	Q8N769	CN178_HUMAN	hypothetical protein LOC283579	83										ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)										0.227273	14.76297	16.264952	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78235900	78235900	1810	14	C	G	G	G	416	32	C14orf178	3	3
PPP4R4	57718	broad.mit.edu	37	14	94733329	94733329	+	Silent	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94733329C>G	uc001ycs.1	+	c.2412C>G	c.(2410-2412)GTC>GTG	p.V804V		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	804						cytoplasm|protein serine/threonine phosphatase complex	protein binding				0														0.093023	9.930131	24.259186	8	78	KEEP	---	---	---	---	capture		Silent	SNP	94733329	94733329	12841	14	C	G	G	G	405	32	PPP4R4	3	3
CASC5	57082	broad.mit.edu	37	15	40902476	40902476	+	Silent	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40902476G>C	uc010bbs.1	+	c.231G>C	c.(229-231)GTG>GTC	p.V77V	CASC5_uc010ucq.1_5'UTR|CASC5_uc001zme.2_Silent_p.V77V|CASC5_uc010bbt.1_Silent_p.V77V	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	77	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)	2		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)						629				0.2	34.464241	39.48665	12	48	KEEP	---	---	---	---	capture		Silent	SNP	40902476	40902476	2782	15	G	C	C	C	574	45	CASC5	3	3
MAPKBP1	23005	broad.mit.edu	37	15	42108784	42108784	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:42108784G>C	uc001zok.3	+	c.1539G>C	c.(1537-1539)GAG>GAC	p.E513D	MAPKBP1_uc001zoj.3_Missense_Mutation_p.E507D|MAPKBP1_uc010bcj.2_Missense_Mutation_p.E14D|MAPKBP1_uc010bci.2_Missense_Mutation_p.E507D|MAPKBP1_uc010udb.1_Missense_Mutation_p.E346D|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.E14D	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	513	WD 7.									central_nervous_system(4)|breast(2)|pancreas(1)	7		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)						360				0.135135	9.54769	14.322675	5	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42108784	42108784	9675	15	G	C	C	C	425	33	MAPKBP1	3	3
CAPN3	825	broad.mit.edu	37	15	42678468	42678468	+	Silent	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:42678468G>A	uc001zpn.1	+	c.483G>A	c.(481-483)GGG>GGA	p.G161G	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Silent_p.G74G|CAPN3_uc010udf.1_Silent_p.G74G|CAPN3_uc010udg.1_Silent_p.G74G|CAPN3_uc001zpo.1_Silent_p.G161G|CAPN3_uc001zpp.1_Silent_p.G161G	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	161	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)								OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.193548	84.485197	100.79128	36	150	KEEP	---	---	---	---	capture		Silent	SNP	42678468	42678468	2746	15	G	A	A	A	522	41	CAPN3	2	2
DMXL2	23312	broad.mit.edu	37	15	51792347	51792347	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:51792347C>T	uc010ufy.1	-	c.3074G>A	c.(3073-3075)CGC>CAC	p.R1025H	DMXL2_uc002abf.2_Missense_Mutation_p.R1025H|DMXL2_uc010bfa.2_Intron	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1025	WD 8.					cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)	6				all cancers(107;0.00494)										0.11	26.405888	56.507201	22	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51792347	51792347	4777	15	C	T	T	T	351	27	DMXL2	1	1
SMAD3	4088	broad.mit.edu	37	15	67473637	67473637	+	Silent	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:67473637G>A	uc002aqj.2	+	c.717G>A	c.(715-717)GAG>GAA	p.E239E	SMAD3_uc010ujr.1_Silent_p.E134E|SMAD3_uc010ujs.1_Silent_p.E195E|SMAD3_uc010ujt.1_Silent_p.E44E	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	239	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|primary microRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|promoter binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|pancreas(1)	3				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)						476				0.132653	20.805819	33.648419	13	85	KEEP	---	---	---	---	capture		Silent	SNP	67473637	67473637	15257	15	G	A	A	A	438	34	SMAD3	2	2
GLCE	26035	broad.mit.edu	37	15	69548421	69548421	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:69548421T>A	uc002ary.1	+	c.276T>A	c.(274-276)AAT>AAA	p.N92K		NM_015554	NP_056369	O94923	GLCE_HUMAN	D-glucuronyl C5-epimerase	92	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			ovary(2)	2														0.154639	147.709288	202.990557	75	410	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69548421	69548421	6700	15	T	A	A	A	634	49	GLCE	3	3
PARN	5073	broad.mit.edu	37	16	14645891	14645891	+	Silent	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:14645891C>T	uc010uzd.1	-	c.1467G>A	c.(1465-1467)GAG>GAA	p.E489E	PARN_uc010uzc.1_Silent_p.E428E|PARN_uc010uze.1_Silent_p.E443E|PARN_uc010uzf.1_Silent_p.E314E	NM_002582	NP_002573	O95453	PARN_HUMAN	poly(A)-specific ribonuclease (deadenylation	489					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			ovary(2)	2														0.170213	182.356438	235.566335	88	429	KEEP	---	---	---	---	capture		Silent	SNP	14645891	14645891	11870	16	C	T	T	T	363	28	PARN	2	2
ABCC1	4363	broad.mit.edu	37	16	16225762	16225762	+	Silent	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:16225762C>T	uc010bvi.2	+	c.3936C>T	c.(3934-3936)CAC>CAT	p.H1312H	ABCC1_uc010bvj.2_Silent_p.H1253H|ABCC1_uc010bvk.2_Silent_p.H1256H|ABCC1_uc010bvl.2_Silent_p.H1312H|ABCC1_uc010bvm.2_Silent_p.H1197H|ABCC1_uc002del.3_Silent_p.H1206H	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1312	ABC transporter 2.|Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)									0.122066	34.88633	64.693275	26	187	KEEP	---	---	---	---	capture		Silent	SNP	16225762	16225762	50	16	C	T	T	T	220	17	ABCC1	2	2
IL21R	50615	broad.mit.edu	37	16	27457349	27457349	+	Silent	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27457349C>A	uc002doq.1	+	c.807C>A	c.(805-807)GCC>GCA	p.A269A	IL21R_uc002dor.1_Silent_p.A269A|IL21R_uc002dos.1_Silent_p.A269A	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	269	Cytoplasmic (Potential).|Box 1 motif.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)	2										423				0.163934	22.113452	28.654197	10	51	KEEP	---	---	---	---	capture		Silent	SNP	27457349	27457349	7972	16	C	A	A	A	288	23	IL21R	1	1
KIFC3	3801	broad.mit.edu	37	16	57805461	57805461	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57805461G>C	uc010vhz.1	-	c.585C>G	c.(583-585)CAC>CAG	p.H195Q	KIFC3_uc010vhw.1_Missense_Mutation_p.H71Q|KIFC3_uc002emn.2_Non-coding_Transcript|KIFC3_uc002emm.2_Missense_Mutation_p.H34Q|KIFC3_uc010vhx.1_Missense_Mutation_p.H34Q|KIFC3_uc010cdf.2_Missense_Mutation_p.H34Q|KIFC3_uc002emo.3_Missense_Mutation_p.H34Q|KIFC3_uc010vhy.1_Missense_Mutation_p.H115Q|KIFC3_uc002emq.2_Missense_Mutation_p.H173Q|KIFC3_uc002emp.2_Missense_Mutation_p.H173Q|KIFC3_uc002emr.1_Intron|KIFC3_uc010cdg.1_Non-coding_Transcript	NM_001130100	NP_001123572	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 2	173	Potential.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			ovary(1)|central_nervous_system(1)	2		all_neural(199;0.224)												0.122807	12.982446	20.920057	7	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57805461	57805461	8625	16	G	C	C	C	620	48	KIFC3	3	3
MYH13	8735	broad.mit.edu	37	17	10212691	10212691	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10212691T>C	uc002gmk.1	-	c.5029A>G	c.(5029-5031)ATC>GTC	p.I1677V		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1677	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.193548	13.632242	16.348933	6	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10212691	10212691	10427	17	T	C	C	C	663	51	MYH13	4	4
MYH1	4619	broad.mit.edu	37	17	10409227	10409227	+	Silent	SNP	A	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10409227A>T	uc002gmo.2	-	c.2076T>A	c.(2074-2076)CTT>CTA	p.L692L		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	692	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.116883	24.436345	46.673038	18	136	KEEP	---	---	---	---	capture		Silent	SNP	10409227	10409227	10424	17	A	T	T	T	54	5	MYH1	3	3
CCDC144NL	339184	broad.mit.edu	37	17	20799042	20799042	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:20799042G>T	uc002gyf.2	-	c.292C>A	c.(292-294)CAC>AAC	p.H98N		NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family,	98											0														0.131818	46.423014	75.399513	29	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20799042	20799042	2899	17	G	T	T	T	598	46	CCDC144NL	2	2
RPL19	6143	broad.mit.edu	37	17	37358692	37358692	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37358692G>T	uc002hrq.1	+	c.235G>T	c.(235-237)GGT>TGT	p.G79C	RPL19_uc002hrr.1_Missense_Mutation_p.G77C	NM_000981	NP_000972	P84098	RL19_HUMAN	ribosomal protein L19	79					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0														0.178947	38.614154	47.830394	17	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37358692	37358692	14045	17	G	T	T	T	455	35	RPL19	2	2
MED1	5469	broad.mit.edu	37	17	37564803	37564803	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37564803G>A	uc002hrv.3	-	c.3671C>T	c.(3670-3672)CCT>CTT	p.P1224L	MED1_uc010wee.1_Missense_Mutation_p.P1052L|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1224	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(1)|kidney(1)	2		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		Pancreas(21;279 768 2492 4877 24026)								0.186441	26.587916	32.024096	11	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37564803	37564803	9814	17	G	A	A	A	455	35	MED1	2	2
KRTAP1-3	81850	broad.mit.edu	37	17	39191008	39191009	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39191008_39191009GG>AT	uc002hvv.2	-	c.65_66CC>AT	c.(64-66)TCC>TAT	p.S22Y		NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	22						extracellular region|keratin filament	structural constituent of epidermis				0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)											0.078431	-1.085403	17.445378	8	94	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	39191008	39191009	8818	17	GG	AT	AT	AT	600	47	KRTAP1-3	2	2
KRTAP1-3	81850	broad.mit.edu	37	17	39191048	39191048	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39191048C>G	uc002hvv.2	-	c.26G>C	c.(25-27)TGT>TCT	p.C9S		NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	9						extracellular region|keratin filament	structural constituent of epidermis				0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)											0.119266	20.774065	36.342608	13	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39191048	39191048	8818	17	C	G	G	G	221	17	KRTAP1-3	3	3
KRT38	8687	broad.mit.edu	37	17	39595502	39595503	+	Nonsense_Mutation	DNP	CC	AG	AG			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39595502_39595503CC>AG	uc002hwq.1	-	c.684_685GG>CT	c.(682-687)CAGGAG>CACTAG	p.228_229QE>H*		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	228_229	Rod.|Coil 1B.					intermediate filament	structural molecule activity				0		Breast(137;0.000496)												0.142857	22.378582	34.430418	14	84	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	39595502	39595503	8790	17	CC	AG	AG	AG	390	30	KRT38	5	2
PELP1	27043	broad.mit.edu	37	17	4575522	4575522	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4575522C>G	uc002fyi.3	-	c.2764G>C	c.(2764-2766)GAA>CAA	p.E922Q	PELP1_uc010vsf.1_Missense_Mutation_p.E775Q	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	922	Glu-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2														0.428571	10.92411	10.955238	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4575522	4575522	12146	17	C	G	G	G	377	29	PELP1	3	3
BRIP1	83990	broad.mit.edu	37	17	59760881	59760881	+	Missense_Mutation	SNP	T	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:59760881T>G	uc002izk.1	-	c.3526A>C	c.(3526-3528)ATA>CTA	p.I1176L		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1176					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1										346				0.262295	51.173793	54.290443	16	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59760881	59760881	1545	17	T	G	G	G	637	49	BRIP1	4	4
SRP68	6730	broad.mit.edu	37	17	74046574	74046574	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74046574C>G	uc002jqk.1	-	c.1012G>C	c.(1012-1014)GAA>CAA	p.E338Q	SRP68_uc010wsu.1_Missense_Mutation_p.E237Q|SRP68_uc002jql.1_Missense_Mutation_p.E300Q|SRP68_uc002jqj.1_5'UTR	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	338					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1														0.158416	75.559229	98.033822	32	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74046574	74046574	15670	17	C	G	G	G	377	29	SRP68	3	3
SRP68	6730	broad.mit.edu	37	17	74046604	74046604	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74046604C>A	uc002jqk.1	-	c.982G>T	c.(982-984)GAA>TAA	p.E328*	SRP68_uc010wsu.1_Nonsense_Mutation_p.E227*|SRP68_uc002jql.1_Nonsense_Mutation_p.E290*|SRP68_uc002jqj.1_5'UTR	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	328					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	p.E328K(1)		ovary(1)	1														0.157895	48.295364	65.262966	24	128	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	74046604	74046604	15670	17	C	A	A	A	377	29	SRP68	5	2
TP53	7157	broad.mit.edu	37	17	7578455	7578455	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578455C>G	uc002gim.2	-	c.475G>C	c.(475-477)GCC>CCC	p.A159P	TP53_uc002gig.1_Missense_Mutation_p.A159P|TP53_uc002gih.2_Missense_Mutation_p.A159P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27P|TP53_uc010cng.1_Missense_Mutation_p.A27P|TP53_uc002gii.1_Missense_Mutation_p.A27P|TP53_uc010cnh.1_Missense_Mutation_p.A159P|TP53_uc010cni.1_Missense_Mutation_p.A159P|TP53_uc002gij.2_Missense_Mutation_p.A159P|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.A66P|TP53_uc002gio.2_Missense_Mutation_p.A27P|TP53_uc010vug.1_Missense_Mutation_p.A120P	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	159	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of 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.A159P(13)|p.A159T(7)|p.0?(6)|p.A159fs*11(4)|p.A159S(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R158fs*11(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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	p.A159P(SNU1214-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.181818	85.195043	104.022931	36	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7578455	7578455	16923	17	C	G	G	G	351	27	TP53	3	3
ARHGEF15	22899	broad.mit.edu	37	17	8219171	8219171	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8219171A>T	uc002glc.2	+	c.1520A>T	c.(1519-1521)TAT>TTT	p.Y507F	ARHGEF15_uc002gld.2_Missense_Mutation_p.Y507F|ARHGEF15_uc010vuw.1_Missense_Mutation_p.Y396F	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	507	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2														0.322034	56.609741	58.26629	19	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8219171	8219171	912	17	A	T	T	T	208	16	ARHGEF15	3	3
CIDEA	1149	broad.mit.edu	37	18	12274208	12274208	+	Silent	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:12274208C>A	uc002kqu.3	+	c.549C>A	c.(547-549)GCC>GCA	p.A183A	CIDEA_uc002kqt.3_Silent_p.A149A|CIDEA_uc010dlc.2_Non-coding_Transcript	NM_198289	NP_938031	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a isoform	149					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			ovary(1)|central_nervous_system(1)	2														0.179348	71.157092	88.960847	33	151	KEEP	---	---	---	---	capture		Silent	SNP	12274208	12274208	3559	18	C	A	A	A	262	21	CIDEA	2	2
DSG1	1828	broad.mit.edu	37	18	28934418	28934418	+	Silent	SNP	T	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28934418T>A	uc002kwp.2	+	c.2259T>A	c.(2257-2259)CCT>CCA	p.P753P	DSG1_uc010xbp.1_Silent_p.P112P	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	753	Cytoplasmic (Potential).				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)											0.183735	138.978766	170.136984	61	271	KEEP	---	---	---	---	capture		Silent	SNP	28934418	28934418	4960	18	T	A	A	A	678	53	DSG1	3	3
ONECUT2	9480	broad.mit.edu	37	18	55143772	55143772	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:55143772C>G	uc002lgo.2	+	c.1332C>G	c.(1330-1332)ATC>ATG	p.I444M		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	444	Homeobox.				organ morphogenesis	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)										0.197802	51.195531	58.933707	18	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55143772	55143772	11274	18	C	G	G	G	408	32	ONECUT2	3	3
ALPK2	115701	broad.mit.edu	37	18	56204800	56204800	+	Silent	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:56204800C>A	uc002lhj.3	-	c.2619G>T	c.(2617-2619)GTG>GTT	p.V873V	ALPK2_uc002lhk.1_Silent_p.V204V	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	873					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11										343				0.089552	3.595322	14.992109	6	61	KEEP	---	---	---	---	capture		Silent	SNP	56204800	56204800	548	18	C	A	A	A	210	17	ALPK2	2	2
CDH20	28316	broad.mit.edu	37	18	59212284	59212284	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:59212284G>T	uc010dps.1	+	c.1555G>T	c.(1555-1557)GAC>TAC	p.D519Y	CDH20_uc002lif.2_Missense_Mutation_p.D513Y	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	519	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)												0.146825	60.995508	91.210877	37	215	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59212284	59212284	3235	18	G	T	T	T	533	41	CDH20	2	2
TSHZ3	57616	broad.mit.edu	37	19	31767488	31767488	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31767488G>T	uc002nsy.3	-	c.3211C>A	c.(3211-3213)CAC>AAC	p.H1071N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	1071					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)													0.118056	24.068154	44.712904	17	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31767488	31767488	17176	19	G	T	T	T	611	47	TSHZ3	2	2
ZNF568	374900	broad.mit.edu	37	19	37441464	37441464	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37441464G>C	uc002ofc.2	+	c.1409G>C	c.(1408-1410)GGA>GCA	p.G470A	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.G394A|ZNF568_uc010efe.2_Missense_Mutation_p.G394A|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.17284	37.398442	45.586238	14	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37441464	37441464	18594	19	G	C	C	C	533	41	ZNF568	3	3
ZNF571	51276	broad.mit.edu	37	19	38055625	38055625	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38055625G>A	uc002ogt.2	-	c.1705C>T	c.(1705-1707)CGT>TGT	p.R569C	ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|ZNF571_uc010efp.2_Missense_Mutation_p.R569C	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	569	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.177914	127.751438	159.5954	58	268	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38055625	38055625	18598	19	G	A	A	A	481	37	ZNF571	1	1
HIPK4	147746	broad.mit.edu	37	19	40886395	40886395	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40886395G>T	uc002onp.2	-	c.1503C>A	c.(1501-1503)TTC>TTA	p.F501L		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	501					protein phosphorylation	cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)	1			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)							108				0.105485	23.185143	59.858015	25	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40886395	40886395	7404	19	G	T	T	T	581	45	HIPK4	2	2
CCDC97	90324	broad.mit.edu	37	19	41828552	41828552	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41828552G>A	uc002oqg.2	+	c.964G>A	c.(964-966)GAG>AAG	p.E322K	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	322											0														0.124752	79.22462	148.787125	63	442	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41828552	41828552	3000	19	G	A	A	A	585	45	CCDC97	2	2
CCDC97	90324	broad.mit.edu	37	19	41828555	41828555	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41828555G>A	uc002oqg.2	+	c.967G>A	c.(967-969)GAG>AAG	p.E323K	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	323											0														0.125	86.269865	154.463079	62	434	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41828555	41828555	3000	19	G	A	A	A	533	41	CCDC97	2	2
PRR19	284338	broad.mit.edu	37	19	42813884	42813884	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42813884C>T	uc002oti.2	+	c.148C>T	c.(148-150)CGG>TGG	p.R50W	PRR19_uc002oth.1_Missense_Mutation_p.R50W|PRR19_uc002otj.2_Missense_Mutation_p.R50W	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	proline rich 19	50											0		Prostate(69;0.00682)												0.176471	13.82946	17.182707	6	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42813884	42813884	13034	19	C	T	T	T	399	31	PRR19	1	1
ZNF225	7768	broad.mit.edu	37	19	44622435	44622435	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44622435T>A	uc002oyj.1	+	c.110T>A	c.(109-111)ATG>AAG	p.M37K	ZNF225_uc010eje.1_5'UTR|ZNF225_uc010ejf.1_Missense_Mutation_p.M37K	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)												0.139298	230.231465	341.211081	123	760	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44622435	44622435	18370	19	T	A	A	A	663	51	ZNF225	3	3
ZFP112	7771	broad.mit.edu	37	19	44831777	44831777	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44831777G>A	uc010xwy.1	-	c.2602C>T	c.(2602-2604)CAC>TAC	p.H868Y	ZFP112_uc010ejj.2_Missense_Mutation_p.H851Y|ZFP112_uc002ozc.3_Missense_Mutation_p.H845Y|ZFP112_uc010xwz.1_Missense_Mutation_p.H850Y	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 2	851	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3						Melanoma(53;975 1202 7512 15993 27273)								0.100719	32.01112	98.404926	42	375	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44831777	44831777	18226	19	G	A	A	A	585	45	ZFP112	2	2
EML2	24139	broad.mit.edu	37	19	46133262	46133262	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46133262G>A	uc010xxm.1	-	c.1156C>T	c.(1156-1158)CAC>TAC	p.H386Y	EML2_uc002pcn.2_Missense_Mutation_p.H185Y|EML2_uc002pco.2_Non-coding_Transcript|EML2_uc002pcp.2_Missense_Mutation_p.H69Y|EML2_uc010xxl.1_Missense_Mutation_p.H332Y|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.1_Missense_Mutation_p.H185Y|EML2_uc010ekj.2_Missense_Mutation_p.H185Y|EML2_uc010ekk.1_Non-coding_Transcript	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	185	WD 2.				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)										0.157895	28.758498	39.365087	15	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46133262	46133262	5289	19	G	A	A	A	585	45	EML2	2	2
NLRP2	55655	broad.mit.edu	37	19	55481465	55481465	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55481465T>A	uc002qij.2	+	c.82T>A	c.(82-84)TAT>AAT	p.Y28N	NLRP2_uc010yfp.1_Missense_Mutation_p.Y28N|NLRP2_uc010esn.2_Missense_Mutation_p.Y28N|NLRP2_uc010eso.2_Missense_Mutation_p.Y28N|NLRP2_uc010esp.2_Missense_Mutation_p.Y28N	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	28	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)										0.1	13.051766	35.420516	14	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55481465	55481465	10880	19	T	A	A	A	741	57	NLRP2	3	3
NLRP8	126205	broad.mit.edu	37	19	56467063	56467063	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56467063G>C	uc002qmh.2	+	c.1639G>C	c.(1639-1641)GGA>CGA	p.G547R	NLRP8_uc010etg.2_Missense_Mutation_p.G547R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	547						cytoplasm	ATP binding			ovary(4)|breast(3)|large_intestine(1)|kidney(1)|skin(1)	10		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)										0.143885	29.894626	46.888499	20	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56467063	56467063	10886	19	G	C	C	C	455	35	NLRP8	3	3
PEG3	5178	broad.mit.edu	37	19	57327147	57327147	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57327147T>A	uc002qnu.2	-	c.2663A>T	c.(2662-2664)AAT>ATT	p.N888I	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.N859I|PEG3_uc002qnv.2_Missense_Mutation_p.N888I|PEG3_uc002qnw.2_Missense_Mutation_p.N764I|PEG3_uc002qnx.2_Missense_Mutation_p.N762I|PEG3_uc010etr.2_Missense_Mutation_p.N888I	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	888					apoptosis|regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|large_intestine(1)|pancreas(1)	9		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)										0.143541	54.105681	79.684618	30	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57327147	57327147	12141	19	T	A	A	A	676	52	PEG3	3	3
XAB2	56949	broad.mit.edu	37	19	7692716	7692716	+	Silent	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:7692716G>A	uc002mgx.2	-	c.222C>T	c.(220-222)TAC>TAT	p.Y74Y		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	74	HAT 2.				nuclear mRNA splicing, via spliceosome|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4														0.12963	11.088423	18.297444	7	47	KEEP	---	---	---	---	capture		Silent	SNP	7692716	7692716	17992	19	G	A	A	A	568	44	XAB2	2	2
TCHH	7062	broad.mit.edu	37	1	152083948	152083948	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152083948T>A	uc001ezp.2	-	c.1745A>T	c.(1744-1746)GAG>GTG	p.E582V	TCHH_uc009wne.1_Missense_Mutation_p.E582V	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	582	9 X 28 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)											0.14	7.912121	14.175264	7	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152083948	152083948	16226	1	T	A	A	A	702	54	TCHH	3	3
FLG2	388698	broad.mit.edu	37	1	152323126	152323126	+	Nonsense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152323126G>C	uc001ezw.3	-	c.7136C>G	c.(7135-7137)TCA>TGA	p.S2379*		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2379							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)											0.140127	97.175499	136.446146	44	270	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	152323126	152323126	6161	1	G	C	C	C	585	45	FLG2	5	3
IL6R	3570	broad.mit.edu	37	1	154420621	154420621	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154420621G>C	uc001fez.1	+	c.970G>C	c.(970-972)GAG>CAG	p.E324Q	IL6R_uc001ffa.1_Missense_Mutation_p.E324Q	NM_000565	NP_000556	P08887	IL6RA_HUMAN	interleukin 6 receptor isoform 1 precursor	324	Extracellular (Potential).				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|monocyte chemotaxis|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|neutrophil mediated immunity|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity			ovary(3)|breast(1)	4	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)											0.130719	42.286821	62.579157	20	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154420621	154420621	8003	1	G	C	C	C	585	45	IL6R	3	3
DCST2	127579	broad.mit.edu	37	1	155001740	155001740	+	Silent	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155001740C>T	uc001fgm.2	-	c.1311G>A	c.(1309-1311)CGG>CGA	p.R437R	DCST2_uc009wpb.2_Non-coding_Transcript	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	437	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)											0.075472	-2.281843	17.307818	8	98	KEEP	---	---	---	---	capture		Silent	SNP	155001740	155001740	4474	1	C	T	T	T	327	26	DCST2	2	2
SCAMP3	10067	broad.mit.edu	37	1	155230148	155230148	+	Nonsense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155230148G>A	uc001fjs.2	-	c.361C>T	c.(361-363)CAG>TAG	p.Q121*	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'UTR|SCAMP3_uc001fju.2_Nonsense_Mutation_p.Q121*|SCAMP3_uc001fjv.2_Nonsense_Mutation_p.Q121*|SCAMP3_uc001fjt.2_Nonsense_Mutation_p.Q95*	NM_005698	NP_005689	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3 isoform 1	121	Cytoplasmic (Potential).				post-Golgi vesicle-mediated transport|protein transport	integral to membrane				ovary(3)	3	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)											0.142857	32.767118	50.844464	21	126	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	155230148	155230148	14353	1	G	A	A	A	598	46	SCAMP3	5	2
FCRL3	115352	broad.mit.edu	37	1	157665172	157665172	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157665172G>T	uc001fqz.3	-	c.1358C>A	c.(1357-1359)GCA>GAA	p.A453E	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_Missense_Mutation_p.A179E|FCRL3_uc001frb.2_Missense_Mutation_p.A453E|FCRL3_uc001frc.1_Missense_Mutation_p.A453E	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	453	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)													0.080175	9.553625	132.89038	55	631	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157665172	157665172	6033	1	G	T	T	T	598	46	FCRL3	2	2
RALGPS2	55103	broad.mit.edu	37	1	178745932	178745932	+	Silent	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:178745932C>G	uc001glz.2	+	c.33C>G	c.(31-33)GTC>GTG	p.V11V	RALGPS2_uc001gly.1_Silent_p.V11V|RALGPS2_uc010pnb.1_Silent_p.V11V	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	11					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding				0														0.104089	41.087898	83.046754	28	241	KEEP	---	---	---	---	capture		Silent	SNP	178745932	178745932	13478	1	C	G	G	G	366	29	RALGPS2	3	3
FAM5C	339479	broad.mit.edu	37	1	190195450	190195450	+	Splice_Site_SNP	SNP	T	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190195450T>A	uc001gse.1	-	c.725_splice	c.e6-1	p.G242_splice	FAM5C_uc010pot.1_Splice_Site_SNP_p.G140_splice	NM_199051	NP_950252			family with sequence similarity 5, member C							extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.197183	32.907324	38.972864	14	57	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	190195450	190195450	5817	1	T	A	A	A	728	56	FAM5C	5	3
C1orf186	440712	broad.mit.edu	37	1	206241647	206241647	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:206241647C>A	uc001hdt.1	-	c.142G>T	c.(142-144)GCC>TCC	p.A48S		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	hypothetical protein LOC440712	48						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.0754)											0.095238	3.89984	14.261004	6	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	206241647	206241647	2088	1	C	A	A	A	338	26	C1orf186	2	2
C1orf74	148304	broad.mit.edu	37	1	209956824	209956824	+	Silent	SNP	T	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:209956824T>A	uc001hhp.1	-	c.156A>T	c.(154-156)CCA>CCT	p.P52P		NM_152485	NP_689698	Q96LT6	CA074_HUMAN	hypothetical protein LOC148304	52											0				OV - Ovarian serous cystadenocarcinoma(81;0.0328)										0.117391	37.966728	71.062839	27	203	KEEP	---	---	---	---	capture		Silent	SNP	209956824	209956824	2134	1	T	A	A	A	704	55	C1orf74	3	3
ESRRG	2104	broad.mit.edu	37	1	216824354	216824354	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216824354G>T	uc001hkx.1	-	c.565C>A	c.(565-567)CGC>AGC	p.R189S	ESRRG_uc001hky.1_Missense_Mutation_p.R161S|ESRRG_uc009xdp.1_Missense_Mutation_p.R161S|ESRRG_uc001hkz.1_Intron|ESRRG_uc010puc.1_Missense_Mutation_p.R161S|ESRRG_uc001hla.1_Missense_Mutation_p.R161S|ESRRG_uc001hlb.1_Missense_Mutation_p.R161S|ESRRG_uc010pud.1_5'UTR|ESRRG_uc001hlc.1_Missense_Mutation_p.R161S|ESRRG_uc001hld.1_Missense_Mutation_p.R161S|ESRRG_uc009xdo.1_Missense_Mutation_p.R161S|ESRRG_uc001hkw.1_Missense_Mutation_p.R184S|ESRRG_uc001hle.1_Missense_Mutation_p.R161S	NM_206595	NP_996318	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 2	184	Nuclear receptor.|NR C4-type.				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription activator activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)									0.287671	123.19239	129.093759	42	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216824354	216824354	5455	1	G	T	T	T	507	39	ESRRG	1	1
ABCB10	23456	broad.mit.edu	37	1	229683401	229683401	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229683401G>C	uc001htp.3	-	c.766C>G	c.(766-768)CTG>GTG	p.L256V		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	256	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)												0.177778	42.84287	51.642217	16	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	229683401	229683401	42	1	G	C	C	C	425	33	ABCB10	3	3
C1QB	713	broad.mit.edu	37	1	22986043	22986043	+	Missense_Mutation	SNP	A	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22986043A>C	uc001bgd.2	+	c.94A>C	c.(94-96)ACC>CCC	p.T32P		NM_000491	NP_000482	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	32					complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)									0.103448	18.290718	41.09095	15	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22986043	22986043	2022	1	A	C	C	C	78	6	C1QB	4	4
HEATR1	55127	broad.mit.edu	37	1	236755306	236755306	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236755306C>A	uc001hyd.1	-	c.1409G>T	c.(1408-1410)GGA>GTA	p.G470V		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	470					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)	2	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)											0.2	55.897234	66.365485	25	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236755306	236755306	7310	1	C	A	A	A	390	30	HEATR1	2	2
OR2M4	26245	broad.mit.edu	37	1	248402705	248402705	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248402705G>A	uc010pzh.1	+	c.475G>A	c.(475-477)GTG>ATG	p.V159M		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	159	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|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;0.0245)											0.254237	254.575842	273.981634	90	264	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248402705	248402705	11418	1	G	A	A	A	468	36	OR2M4	2	2
OR2T4	127074	broad.mit.edu	37	1	248525348	248525348	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248525348G>A	uc001ieh.1	+	c.466G>A	c.(466-468)GTG>ATG	p.V156M		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	156	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.084559	17.539522	112.813651	46	498	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248525348	248525348	11433	1	G	A	A	A	520	40	OR2T4	1	1
IQCC	55721	broad.mit.edu	37	1	32672200	32672200	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:32672200G>A	uc009vua.2	+	c.517G>A	c.(517-519)GAG>AAG	p.E173K	IQCC_uc001bum.2_Missense_Mutation_p.E93K|IQCC_uc010ogz.1_5'UTR|DCDC2B_uc001bun.2_5'Flank	NM_001160042	NP_001153514	Q4KMZ1	IQCC_HUMAN	IQ motif containing C isoform 1	93										ovary(4)	4		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)												0.135135	14.994839	24.54769	10	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32672200	32672200	8105	1	G	A	A	A	585	45	IQCC	2	2
GRIK3	2899	broad.mit.edu	37	1	37346391	37346391	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:37346391G>T	uc001caz.2	-	c.394C>A	c.(394-396)CAC>AAC	p.H132N	GRIK3_uc001cba.1_Missense_Mutation_p.H132N	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	132	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|large_intestine(1)|breast(1)	5		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)									0.104575	14.178521	37.988357	16	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37346391	37346391	7054	1	G	T	T	T	611	47	GRIK3	2	2
CYP4B1	1580	broad.mit.edu	37	1	47278291	47278291	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47278291T>C	uc001cqn.3	+	c.491T>C	c.(490-492)ATG>ACG	p.M164T	CYP4B1_uc009vyl.1_Missense_Mutation_p.M1T|CYP4B1_uc001cqm.3_Missense_Mutation_p.M164T|CYP4B1_uc009vym.2_Missense_Mutation_p.M149T|CYP4B1_uc010omk.1_Missense_Mutation_p.M1T|CYP4B1_uc010oml.1_Missense_Mutation_p.M1T	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	164					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.160991	116.389037	151.714212	52	271	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47278291	47278291	4350	1	T	C	C	C	663	51	CYP4B1	4	4
NFIA	4774	broad.mit.edu	37	1	61818168	61818168	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:61818168G>C	uc010oos.1	+	c.882G>C	c.(880-882)TTG>TTC	p.L294F	NFIA_uc001czy.2_Missense_Mutation_p.L241F|NFIA_uc001czw.2_Missense_Mutation_p.L249F|NFIA_uc001czv.2_Missense_Mutation_p.L249F	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	nuclear factor I/A isoform 4	249					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1										682				0.093023	10.995239	32.493262	12	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61818168	61818168	10770	1	G	C	C	C	607	47	NFIA	3	3
ANKRD13C	81573	broad.mit.edu	37	1	70819665	70819665	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70819665G>C	uc001dex.3	-	c.427C>G	c.(427-429)CAC>GAC	p.H143D	ANKRD13C_uc009wbk.2_Missense_Mutation_p.H143D|ANKRD13C_uc001dey.3_Missense_Mutation_p.H143D|HHLA3_uc010oqp.1_5'Flank|HHLA3_uc001dfa.2_5'Flank|HHLA3_uc001dfb.2_5'Flank|HHLA3_uc001dfc.2_5'Flank	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	143	ANK 2.				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding				0														0.128205	8.445602	13.700846	5	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70819665	70819665	646	1	G	C	C	C	585	45	ANKRD13C	3	3
ELTD1	64123	broad.mit.edu	37	1	79412033	79412033	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:79412033C>T	uc001diq.3	-	c.251G>A	c.(250-252)TGT>TAT	p.C84Y		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	84	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)	1				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)										0.132353	12.022505	20.956767	9	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79412033	79412033	5276	1	C	T	T	T	221	17	ELTD1	2	2
ENO1	2023	broad.mit.edu	37	1	8934896	8934896	+	Silent	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:8934896G>C	uc001apj.1	-	c.72C>G	c.(70-72)CTC>CTG	p.L24L	ENO1_uc001apk.1_5'UTR|ENO1_uc001apl.1_Silent_p.L24L|ENO1_uc009vmi.1_Silent_p.L24L|ENO1_uc009vmj.1_Silent_p.L24L|ENO1_uc009vmk.1_Missense_Mutation_p.S18C|ENO1_uc009vml.1_Silent_p.L24L|ENO1_uc009vmm.1_Non-coding_Transcript	NM_001428	NP_001419	P06733	ENOA_HUMAN	enolase 1	24					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	nucleus|phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription repressor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		Esophageal Squamous(21;302 608 19946 22210 33560)								0.122222	20.856858	33.435508	11	79	KEEP	---	---	---	---	capture		Silent	SNP	8934896	8934896	5314	1	G	C	C	C	418	33	ENO1	3	3
TGM3	7053	broad.mit.edu	37	20	2290900	2290900	+	Silent	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2290900G>A	uc002wfx.3	+	c.258G>A	c.(256-258)GCG>GCA	p.A86A		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	86					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)	8					L-Glutamine(DB00130)									0.230263	182.717941	202.979	70	234	KEEP	---	---	---	---	capture		Silent	SNP	2290900	2290900	16359	20	G	A	A	A	496	39	TGM3	1	1
EMILIN3	90187	broad.mit.edu	37	20	39990047	39990047	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:39990047C>T	uc002xjy.1	-	c.2162G>A	c.(2161-2163)AGA>AAA	p.R721K		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	721						proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)												0.375	27.468551	27.797968	9	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39990047	39990047	5287	20	C	T	T	T	416	32	EMILIN3	2	2
MOCS3	27304	broad.mit.edu	37	20	49575810	49575810	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:49575810C>T	uc002xvy.1	+	c.431C>T	c.(430-432)TCG>TTG	p.S144L	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	144					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			ovary(1)|skin(1)	2														0.210526	27.170275	31.588154	12	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49575810	49575810	10083	20	C	T	T	T	403	31	MOCS3	1	1
PCK1	5105	broad.mit.edu	37	20	56138667	56138667	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:56138667C>A	uc002xyn.3	+	c.845C>A	c.(844-846)GCC>GAC	p.A282D	PCK1_uc010zzm.1_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	282					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity				0	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)											0.363636	59.184208	60.084379	20	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56138667	56138667	12001	20	C	A	A	A	338	26	PCK1	2	2
GRIK1	2897	broad.mit.edu	37	21	30949386	30949386	+	Silent	SNP	T	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:30949386T>A	uc011acs.1	-	c.2028A>T	c.(2026-2028)GTA>GTT	p.V676V	GRIK1_uc002ynn.2_Silent_p.V661V|GRIK1_uc011act.1_Silent_p.V537V|GRIK1_uc002yno.1_Silent_p.V676V	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	676	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|Topiramate(DB00273)					608				0.119718	21.470937	41.626422	17	125	KEEP	---	---	---	---	capture		Silent	SNP	30949386	30949386	7052	21	T	A	A	A	678	53	GRIK1	3	3
DSCAM	1826	broad.mit.edu	37	21	41741116	41741116	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:41741116C>T	uc002yyq.1	-	c.565G>A	c.(565-567)GAA>AAA	p.E189K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	189	Ig-like C2-type 2.|Extracellular (Potential).				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)								0.107143	7.807513	20.678303	9	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41741116	41741116	4952	21	C	T	T	T	377	29	DSCAM	2	2
P2RX6	9127	broad.mit.edu	37	22	21377428	21377428	+	Silent	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:21377428C>A	uc010gsu.1	+	c.579C>A	c.(577-579)GCC>GCA	p.A193A	P2RX6_uc002ztz.2_Silent_p.A167A|P2RX6_uc002zua.2_Non-coding_Transcript|P2RX6_uc002zuc.1_Non-coding_Transcript	NM_005446	NP_005437	O15547	P2RX6_HUMAN	purinergic receptor P2X6 isoform 1	193	Extracellular (Potential).				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0														0.25	50.69501	55.008086	19	57	KEEP	---	---	---	---	capture		Silent	SNP	21377428	21377428	11757	22	C	A	A	A	275	22	P2RX6	2	2
GPR148	344561	broad.mit.edu	37	2	131486979	131486979	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131486979C>A	uc002trv.1	+	c.255C>A	c.(253-255)CAC>CAA	p.H85Q		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	85	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Colorectal(110;0.1)													0.090909	5.428325	20.277416	8	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131486979	131486979	6928	2	C	A	A	A	259	20	GPR148	2	2
LRP1B	53353	broad.mit.edu	37	2	141299477	141299477	+	Missense_Mutation	SNP	A	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141299477A>G	uc002tvj.1	-	c.7258T>C	c.(7258-7260)TGG>CGG	p.W2420R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2420	Extracellular (Potential).|LDL-receptor class B 27.				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)			0.376	162.296131	163.982822	47	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141299477	141299477	9328	2	A	G	G	G	91	7	LRP1B	4	4
TBR1	10716	broad.mit.edu	37	2	162273111	162273111	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:162273111G>C	uc002ubw.1	+	c.190G>C	c.(190-192)GAT>CAT	p.D64H	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	64						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.067669	-2.039758	23.69832	9	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162273111	162273111	16173	2	G	C	C	C	429	33	TBR1	3	3
RAD51AP2	729475	broad.mit.edu	37	2	17699059	17699059	+	Silent	SNP	A	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:17699059A>T	uc002rcl.1	-	c.624T>A	c.(622-624)ATT>ATA	p.I208I	RAD51AP2_uc010exn.1_Silent_p.I199I	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	208										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.188525	53.052941	64.12905	23	99	KEEP	---	---	---	---	capture		Silent	SNP	17699059	17699059	13447	2	A	T	T	T	164	13	RAD51AP2	3	3
PDE11A	50940	broad.mit.edu	37	2	178762821	178762821	+	Silent	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:178762821G>A	uc002ulq.2	-	c.1266C>T	c.(1264-1266)CGC>CGT	p.R422R	PDE11A_uc002ulr.2_Silent_p.R172R|PDE11A_uc002uls.1_Silent_p.R64R|PDE11A_uc002ult.1_Silent_p.R172R|PDE11A_uc002ulu.1_Silent_p.R64R	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	422	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)											0.092166	13.621144	49.969793	20	197	KEEP	---	---	---	---	capture		Silent	SNP	178762821	178762821	12052	2	G	A	A	A	431	34	PDE11A	2	2
DNAH7	56171	broad.mit.edu	37	2	196866436	196866436	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196866436G>A	uc002utj.3	-	c.1136C>T	c.(1135-1137)TCC>TTC	p.S379F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	379	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.231707	152.645315	168.865418	57	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196866436	196866436	4789	2	G	A	A	A	533	41	DNAH7	2	2
CCDC150	284992	broad.mit.edu	37	2	197531457	197531457	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:197531457G>C	uc002utp.1	+	c.777G>C	c.(775-777)CAG>CAC	p.Q259H	CCDC150_uc002uto.1_Missense_Mutation_p.Q259H|CCDC150_uc010zgq.1_Intron|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	259	Potential.										0														0.129032	7.576691	11.73193	4	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197531457	197531457	2905	2	G	C	C	C	438	34	CCDC150	3	3
CPS1	1373	broad.mit.edu	37	2	211518752	211518752	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211518752C>T	uc010fur.2	+	c.3502C>T	c.(3502-3504)CAC>TAC	p.H1168Y	CPS1_uc002vee.3_Missense_Mutation_p.H1162Y|CPS1_uc010fus.2_Missense_Mutation_p.H711Y	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	1162	ATP-grasp 2.			EH -> AT (in Ref. 1; BAA14328).	carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.311111	228.990326	237.575441	84	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211518752	211518752	3961	2	C	T	T	T	325	25	CPS1	2	2
PRR21	643905	broad.mit.edu	37	2	240982137	240982137	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:240982137G>A	uc010zod.1	-	c.263C>T	c.(262-264)TCA>TTA	p.S88L		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	proline rich 21	88	Pro-rich.									ovary(1)	1														0.285303	273.181158	287.536885	99	248	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240982137	240982137	13040	2	G	A	A	A	585	45	PRR21	2	2
STK25	10494	broad.mit.edu	37	2	242438432	242438432	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242438432T>A	uc002wbm.2	-	c.743A>T	c.(742-744)GAG>GTG	p.E248V	STK25_uc002wbk.2_Missense_Mutation_p.E67V|STK25_uc002wbl.2_Missense_Mutation_p.E67V|STK25_uc002wbn.2_Missense_Mutation_p.E248V|STK25_uc002wbo.2_Missense_Mutation_p.E171V|STK25_uc010zos.1_Missense_Mutation_p.E154V|STK25_uc010zot.1_Missense_Mutation_p.E174V|STK25_uc002wbp.2_Missense_Mutation_p.E248V|STK25_uc010fzo.2_Missense_Mutation_p.E171V|STK25_uc010zou.1_Missense_Mutation_p.E154V|STK25_uc010zov.1_Missense_Mutation_p.E154V	NM_006374	NP_006365	O00506	STK25_HUMAN	serine/threonine kinase 25	248	Protein kinase.				protein phosphorylation|response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		NSCLC(99;1100 1566 7679 28647 48345)				211				0.230769	7.418317	8.281782	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242438432	242438432	15814	2	T	A	A	A	702	54	STK25	3	3
C2orf39	92749	broad.mit.edu	37	2	26678013	26678013	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26678013A>T	uc002rhg.2	+	c.2078A>T	c.(2077-2079)CAG>CTG	p.Q693L		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	693	Potential.										0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.251572	114.722475	123.636907	40	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26678013	26678013	2252	2	A	T	T	T	91	7	C2orf39	3	3
ALK	238	broad.mit.edu	37	2	29498008	29498008	+	Silent	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29498008G>T	uc002rmy.2	-	c.1998C>A	c.(1996-1998)CCC>CCA	p.P666P		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	666	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(191)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(14)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(200)|autonomic_ganglia(95)|soft_tissue(59)|kidney(4)|large_intestine(3)|ovary(3)|central_nervous_system(1)|breast(1)|pancreas(1)	1093	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)					777				0.338235	72.105273	73.678232	23	45	KEEP	---	---	---	---	capture		Silent	SNP	29498008	29498008	528	2	G	T	T	T	496	39	ALK	1	1
DYSF	8291	broad.mit.edu	37	2	71839841	71839841	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71839841G>T	uc010fen.2	+	c.4292G>T	c.(4291-4293)CGC>CTC	p.R1431L	DYSF_uc010feg.2_Missense_Mutation_p.R1444L|DYSF_uc010feh.2_Missense_Mutation_p.R1399L|DYSF_uc002sig.3_Missense_Mutation_p.R1399L|DYSF_uc010yqx.1_Non-coding_Transcript|DYSF_uc010fee.2_Missense_Mutation_p.R1413L|DYSF_uc010fef.2_Missense_Mutation_p.R1430L|DYSF_uc002sie.2_Missense_Mutation_p.R1413L|DYSF_uc010fei.2_Missense_Mutation_p.R1430L|DYSF_uc010fek.2_Missense_Mutation_p.R1431L|DYSF_uc010fej.2_Missense_Mutation_p.R1400L|DYSF_uc010fel.2_Missense_Mutation_p.R1400L|DYSF_uc010feo.2_Missense_Mutation_p.R1445L|DYSF_uc010fem.2_Missense_Mutation_p.R1414L|DYSF_uc002sif.2_Missense_Mutation_p.R1414L|DYSF_uc010yqy.1_Missense_Mutation_p.R294L|DYSF_uc010yqz.1_Missense_Mutation_p.R153L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	dysferlin isoform 1	1413	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)	6														0.457143	48.365668	48.424579	16	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71839841	71839841	5045	2	G	T	T	T	494	38	DYSF	1	1
LRRTM4	80059	broad.mit.edu	37	2	77745477	77745477	+	Silent	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:77745477G>A	uc002snr.2	-	c.1518C>T	c.(1516-1518)TGC>TGT	p.C506C	LRRTM4_uc002snq.2_Silent_p.C506C|LRRTM4_uc002sns.2_Silent_p.C506C|LRRTM4_uc002snt.2_Silent_p.C507C	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	506	Cytoplasmic (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)										0.155172	15.231103	21.829211	9	49	KEEP	---	---	---	---	capture		Silent	SNP	77745477	77745477	9418	2	G	A	A	A	594	46	LRRTM4	2	2
SLC9A10	285335	broad.mit.edu	37	3	111870756	111870756	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111870756C>A	uc003dyu.2	-	c.3472G>T	c.(3472-3474)GGG>TGG	p.G1158W	SLC9A10_uc011bhu.1_Missense_Mutation_p.G421W|SLC9A10_uc010hqc.2_Missense_Mutation_p.G1110W	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	1158					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5														0.293173	206.770138	216.308986	73	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111870756	111870756	15207	3	C	A	A	A	286	22	SLC9A10	2	2
SLC35A5	55032	broad.mit.edu	37	3	112299565	112299565	+	Missense_Mutation	SNP	A	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:112299565A>G	uc003dze.2	+	c.601A>G	c.(601-603)AGA>GGA	p.R201G		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	201						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1														0.107143	24.425007	54.443858	21	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112299565	112299565	15071	3	A	G	G	G	88	7	SLC35A5	4	4
ATR	545	broad.mit.edu	37	3	142171996	142171996	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142171996C>T	uc003eux.3	-	c.7735G>A	c.(7735-7737)GAA>AAA	p.E2579K	ATR_uc003euy.1_Missense_Mutation_p.E465K	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2579					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|breast(4)|ovary(3)|skin(2)|stomach(1)|central_nervous_system(1)|liver(1)	17										936				0.293103	99.702445	104.148341	34	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142171996	142171996	1223	3	C	T	T	T	377	29	ATR	2	2
IGSF10	285313	broad.mit.edu	37	3	151164737	151164737	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151164737C>A	uc011bod.1	-	c.3032G>T	c.(3031-3033)GGG>GTG	p.G1011V		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1011					cell differentiation|multicellular organismal development|ossification	extracellular region				ovary(4)|central_nervous_system(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)											0.153439	51.240637	72.963517	29	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151164737	151164737	7898	3	C	A	A	A	286	22	IGSF10	2	2
MLF1	4291	broad.mit.edu	37	3	158311211	158311211	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:158311211G>A	uc003fcc.2	+	c.284G>A	c.(283-285)GGT>GAT	p.G95D	MLF1_uc003fbz.2_Intron|MLF1_uc003fca.2_Intron|MLF1_uc003fcb.2_Intron|MLF1_uc003fbx.2_Missense_Mutation_p.G54D|MLF1_uc003fby.2_Splice_Site_SNP|MLF1_uc010hvx.2_Intron	NM_001130157	NP_001123629	P58340	MLF1_HUMAN	myeloid leukemia factor 1 isoform 2	65	Interaction with COPS3.				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)							351				0.227273	12.162651	13.665266	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158311211	158311211	10004	3	G	A	A	A	560	44	MLF1	2	2
GHSR	2693	broad.mit.edu	37	3	172165759	172165759	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:172165759G>T	uc003fib.1	-	c.445C>A	c.(445-447)CTC>ATC	p.L149I	GHSR_uc011bpv.1_Missense_Mutation_p.L149I	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	149	Cytoplasmic (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			Esophageal Squamous(93;641 1401 20883 29581 34638)								0.467836	259.085246	259.239408	80	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172165759	172165759	6643	3	G	T	T	T	468	36	GHSR	2	2
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	A	A	rs104886003		TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:178936091G>A	uc003fjk.2	+	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545			E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(713)|p.E545?(19)|p.E545Q(11)|p.E545D(1)|p.E545G(1)|p.E545A(1)		breast(1506)|large_intestine(749)|endometrium(244)|urinary_tract(195)|ovary(136)|skin(112)|stomach(89)|thyroid(77)|central_nervous_system(69)|lung(61)|upper_aerodigestive_tract(48)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|kidney(2)|prostate(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3437	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			Colon(199;1504 1750 3362 26421 31210 32040)	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	p.E545K(NCIH508-Tumor)|p.E545K(L363-Tumor)|p.E545K(KYSE510-Tumor)|p.E545K(MKN1-Tumor)|p.E545K(BFTC909-Tumor)|p.E545K(NCIH460-Tumor)|p.E545K(HCC202-Tumor)|p.E545K(KPL1-Tumor)|p.E545K(NCIH596-Tumor)|p.E545K(HUH28-Tumor)|p.E545K(MDAMB361-Tumor)|p.E545K(ESS1-Tumor)|p.E545K(TE5-Tumor)|p.E545K(HSC4-Tumor)|p.E545K(RERFLCSQ1-Tumor)	621	TCGA GBM(8;5.49e-07)			0.571429	91.00332	91.220582	28	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178936091	178936091	12337	3	G	A	A	A	585	45	PIK3CA	2	2
CSPG5	10675	broad.mit.edu	37	3	47610668	47610668	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:47610668T>C	uc003crp.3	-	c.1432A>G	c.(1432-1434)ACC>GCC	p.T478A	CSPG5_uc003crn.2_Missense_Mutation_p.T340A|CSPG5_uc003cro.3_Missense_Mutation_p.T478A|CSPG5_uc011bbb.1_Missense_Mutation_p.T340A	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	478	Cytoplasmic (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)										0.190476	30.590196	36.211298	12	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47610668	47610668	4102	3	T	C	C	C	767	59	CSPG5	4	4
INTS12	57117	broad.mit.edu	37	4	106616825	106616825	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:106616825C>G	uc003hxw.2	-	c.157G>C	c.(157-159)GAT>CAT	p.D53H	INTS12_uc010ilr.2_Missense_Mutation_p.D53H	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	integrator complex subunit 12	53					snRNA processing	integrator complex	protein binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)										0.075377	2.959801	39.758168	15	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106616825	106616825	8078	4	C	G	G	G	390	30	INTS12	3	3
SPATA5	166378	broad.mit.edu	37	4	123900467	123900467	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123900467C>G	uc003iez.3	+	c.1795C>G	c.(1795-1797)CTG>GTG	p.L599V	SPATA5_uc003iey.2_Missense_Mutation_p.L598V	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	599					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0														0.264463	309.237272	327.43793	96	267	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123900467	123900467	15521	4	C	G	G	G	415	32	SPATA5	3	3
MAEA	10296	broad.mit.edu	37	4	1309203	1309203	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:1309203G>A	uc003gda.2	+	c.271G>A	c.(271-273)GCC>ACC	p.A91T	MAEA_uc010ibs.1_Missense_Mutation_p.A91T|MAEA_uc003gdb.2_Missense_Mutation_p.A91T|MAEA_uc011bvb.1_Intron|MAEA_uc003gdc.2_Missense_Mutation_p.A91T|MAEA_uc003gdd.2_Non-coding_Transcript|MAEA_uc011bvc.1_Missense_Mutation_p.A90T|MAEA_uc011bvd.1_Missense_Mutation_p.A43T|MAEA_uc010ibt.2_5'UTR	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	91	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0201)											0.225806	32.818206	37.09935	14	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1309203	1309203	9530	4	G	A	A	A	546	42	MAEA	2	2
GABRA2	2555	broad.mit.edu	37	4	46314600	46314600	+	Missense_Mutation	SNP	T	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46314600T>G	uc003gxc.3	-	c.389A>C	c.(388-390)AAT>ACT	p.N130T	GABRA2_uc010igc.2_Missense_Mutation_p.N130T|GABRA2_uc011bzc.1_Missense_Mutation_p.N75T|GABRA2_uc003gxe.2_Missense_Mutation_p.N130T	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	130	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.125	59.752119	97.129897	34	238	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46314600	46314600	6412	4	T	G	G	G	676	52	GABRA2	4	4
LPHN3	23284	broad.mit.edu	37	4	62812790	62812790	+	Missense_Mutation	SNP	A	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62812790A>C	uc010ihh.2	+	c.2374A>C	c.(2374-2376)AAC>CAC	p.N792H	LPHN3_uc003hcq.3_Missense_Mutation_p.N792H|LPHN3_uc003hct.2_Missense_Mutation_p.N185H	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	779	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.093851	33.640492	84.861289	29	280	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62812790	62812790	9290	4	A	C	C	C	169	13	LPHN3	4	4
HELQ	113510	broad.mit.edu	37	4	84352854	84352854	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:84352854C>T	uc003hom.2	-	c.2258G>A	c.(2257-2259)GGA>GAA	p.G753E	HELQ_uc010ikb.2_Missense_Mutation_p.G686E|HELQ_uc003hol.3_Non-coding_Transcript|HELQ_uc010ikc.2_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	753	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)	2														0.222222	37.214849	41.687325	14	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84352854	84352854	7330	4	C	T	T	T	390	30	HELQ	2	2
FAM13A	10144	broad.mit.edu	37	4	89660226	89660226	+	Silent	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:89660226C>T	uc003hse.1	-	c.2517G>A	c.(2515-2517)CGG>CGA	p.R839R	FAM13A_uc011cdp.1_5'Flank|FAM13A_uc003hsa.1_Silent_p.R310R|FAM13A_uc003hsb.1_Silent_p.R513R|FAM13A_uc003hsd.1_Silent_p.R513R|FAM13A_uc003hsc.1_Silent_p.R499R|FAM13A_uc011cdq.1_Silent_p.R485R|FAM13A_uc003hsf.1_Silent_p.R425R|FAM13A_uc003hsg.1_Silent_p.R310R	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	839					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2														0.1	5.204789	19.595205	9	81	KEEP	---	---	---	---	capture		Silent	SNP	89660226	89660226	5649	4	C	T	T	T	327	26	FAM13A	2	2
TCF7	6932	broad.mit.edu	37	5	133477970	133477970	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:133477970G>A	uc003kyt.2	+	c.730G>A	c.(730-732)GAG>AAG	p.E244K	TCF7_uc003kyu.1_Missense_Mutation_p.E129K|TCF7_uc003kyv.2_Missense_Mutation_p.E129K|TCF7_uc003kyw.2_Missense_Mutation_p.E129K|TCF7_uc003kyx.2_Missense_Mutation_p.E42K|TCF7_uc003kyy.2_Missense_Mutation_p.E129K|TCF7_uc003kyz.2_Missense_Mutation_p.E129K|TCF7_uc003kza.2_Missense_Mutation_p.E129K|TCF7_uc003kzb.2_Missense_Mutation_p.E58K|TCF7_uc010jdu.2_5'Flank	NM_003202	NP_003193	P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific,	244					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	promoter binding|protein binding|RNA polymerase II transcription factor activity				0		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)											0.114583	14.050662	28.109715	11	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133477970	133477970	16222	5	G	A	A	A	533	41	TCF7	2	2
KLHL3	26249	broad.mit.edu	37	5	137056262	137056262	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137056262C>G	uc010jek.2	-	c.26G>C	c.(25-27)AGC>ACC	p.S9T	MYOT_uc011cye.1_Intron|KLHL3_uc010jem.1_Intron	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	kelch-like 3	9						cytoplasm|cytoskeleton	actin binding|structural molecule activity				0		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)										0.232775	363.943126	399.017777	125	412	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137056262	137056262	8696	5	C	G	G	G	364	28	KLHL3	3	3
PCDHA10	56139	broad.mit.edu	37	5	140236393	140236393	+	Nonsense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140236393C>T	uc003lhx.2	+	c.760C>T	c.(760-762)CAA>TAA	p.Q254*	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_Nonsense_Mutation_p.Q254*|PCDHA10_uc011dad.1_Nonsense_Mutation_p.Q254*	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	254	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|breast(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.084507	0.58959	13.038223	6	65	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	140236393	140236393	11940	5	C	T	T	T	377	29	PCDHA10	5	2
PCDHB3	56132	broad.mit.edu	37	5	140481829	140481829	+	Silent	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140481829C>T	uc003lio.2	+	c.1596C>T	c.(1594-1596)GGC>GGT	p.G532G		NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	532	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)											0.163265	16.071206	21.34857	8	41	KEEP	---	---	---	---	capture		Silent	SNP	140481829	140481829	11963	5	C	T	T	T	340	27	PCDHB3	1	1
PCDHGA11	56105	broad.mit.edu	37	5	140801351	140801351	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140801351G>A	uc003lkq.1	+	c.557G>A	c.(556-558)AGA>AAA	p.R186K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.R186K|PCDHGA11_uc003lkp.1_Missense_Mutation_p.R186K	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	186	Extracellular (Potential).|Cadherin 2.				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)											0.102041	6.036257	13.773839	5	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140801351	140801351	11972	5	G	A	A	A	429	33	PCDHGA11	2	2
PANK3	79646	broad.mit.edu	37	5	167995708	167995708	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167995708C>G	uc003lzz.1	-	c.324G>C	c.(322-324)CAG>CAC	p.Q108H		NM_024594	NP_078870	Q9H999	PANK3_HUMAN	pantothenate kinase 3	108					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)										0.060606	-2.937225	17.033892	6	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167995708	167995708	11835	5	C	G	G	G	415	32	PANK3	3	3
CDH12	1010	broad.mit.edu	37	5	21751993	21751993	+	Silent	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:21751993G>A	uc010iuc.2	-	c.2238C>T	c.(2236-2238)TCC>TCT	p.S746S	CDH12_uc011cno.1_Silent_p.S706S|CDH12_uc003jgk.2_Silent_p.S746S	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	746	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.210784	109.845666	125.603901	43	161	KEEP	---	---	---	---	capture		Silent	SNP	21751993	21751993	3227	5	G	A	A	A	496	39	CDH12	1	1
UGT3A2	167127	broad.mit.edu	37	5	36037956	36037956	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36037956T>C	uc003jjz.1	-	c.1238A>G	c.(1237-1239)AAG>AGG	p.K413R	UGT3A2_uc011cos.1_Missense_Mutation_p.K379R|UGT3A2_uc011cot.1_Missense_Mutation_p.K111R	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	413	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|large_intestine(1)|pancreas(1)	4	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.159468	234.799998	301.295678	96	506	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36037956	36037956	17522	5	T	C	C	C	728	56	UGT3A2	4	4
SKIV2L2	23517	broad.mit.edu	37	5	54649065	54649065	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:54649065G>A	uc003jpy.3	+	c.1501G>A	c.(1501-1503)GCC>ACC	p.A501T	SKIV2L2_uc011cqi.1_Missense_Mutation_p.A400T	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	501	Helicase C-terminal.				maturation of 5.8S rRNA|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)	1		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				Melanoma(2;92 134 23744 29976 33782)								0.107143	7.306508	20.181002	9	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54649065	54649065	14855	5	G	A	A	A	598	46	SKIV2L2	2	2
POLK	51426	broad.mit.edu	37	5	74865234	74865234	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:74865234G>A	uc003kdw.2	+	c.325G>A	c.(325-327)GAT>AAT	p.D109N	POLK_uc003kdx.2_Non-coding_Transcript|POLK_uc003kdy.2_Non-coding_Transcript|POLK_uc003kdz.2_Missense_Mutation_p.D109N|POLK_uc003kea.2_Missense_Mutation_p.D109N|POLK_uc003keb.2_Missense_Mutation_p.D109N|POLK_uc010izq.2_Missense_Mutation_p.D109N|POLK_uc003kec.2_Missense_Mutation_p.D19N|POLK_uc010izr.2_Non-coding_Transcript|POLK_uc010izs.2_Non-coding_Transcript|POLK_uc003ked.2_Missense_Mutation_p.D19N|POLK_uc003kee.2_Missense_Mutation_p.D109N|POLK_uc003kef.2_Missense_Mutation_p.D19N	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	109	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)										0.096774	9.699968	29.908413	12	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74865234	74865234	12632	5	G	A	A	A	533	41	POLK	2	2
POC5	134359	broad.mit.edu	37	5	74981288	74981288	+	Missense_Mutation	SNP	T	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:74981288T>G	uc003keh.3	-	c.1151A>C	c.(1150-1152)AAA>ACA	p.K384T	POC5_uc010izu.2_Missense_Mutation_p.K267T|POC5_uc003keg.3_Missense_Mutation_p.K359T	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	proteome of centriole 5 isoform 1	384					cell cycle	centriole				lung(1)	1														0.073394	3.619592	44.404295	16	202	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74981288	74981288	12605	5	T	G	G	G	832	64	POC5	4	4
ZCCHC9	84240	broad.mit.edu	37	5	80608439	80608439	+	Silent	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:80608439G>T	uc003khj.2	+	c.774G>T	c.(772-774)CCG>CCT	p.P258P	RNU5E_uc011cto.1_Intron|ZCCHC9_uc003khk.3_Silent_p.P258P|ZCCHC9_uc003khi.2_Silent_p.P258P	NM_001131035	NP_001124507	Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	258							nucleic acid binding|zinc ion binding			ovary(1)	1		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)										0.201493	64.847884	75.944818	27	107	KEEP	---	---	---	---	capture		Silent	SNP	80608439	80608439	18183	5	G	T	T	T	483	38	ZCCHC9	1	1
GPR98	84059	broad.mit.edu	37	5	89943510	89943510	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:89943510C>G	uc003kju.2	+	c.3218C>G	c.(3217-3219)TCC>TGC	p.S1073C	GPR98_uc003kjt.2_De_novo_Start_OutOfFrame	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1073	Calx-beta 8.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)										0.126712	71.160595	110.858923	37	255	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89943510	89943510	6997	5	C	G	G	G	390	30	GPR98	3	3
RHOBTB3	22836	broad.mit.edu	37	5	95091260	95091260	+	Silent	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:95091260C>T	uc003klm.2	+	c.843C>T	c.(841-843)TTC>TTT	p.F281F	RHOBTB3_uc003klk.1_Silent_p.F75F	NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	281	BTB 1.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)	1		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)										0.219101	91.121223	104.067151	39	139	KEEP	---	---	---	---	capture		Silent	SNP	95091260	95091260	13810	5	C	T	T	T	376	29	RHOBTB3	2	2
PAK1IP1	55003	broad.mit.edu	37	6	10695300	10695300	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:10695300G>T	uc003mzg.2	+	c.82G>T	c.(82-84)GAG>TAG	p.E28*	C6orf52_uc011dij.1_5'Flank|C6orf52_uc011dik.1_5'Flank|C6orf52_uc003mzf.3_5'Flank|C6orf52_uc011dil.1_5'Flank	NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	28					negative regulation of signal transduction	nucleolus|plasma membrane					0	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)												0.243243	41.597936	46.061098	18	56	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10695300	10695300	11816	6	G	T	T	T	481	37	PAK1IP1	5	1
BCLAF1	9774	broad.mit.edu	37	6	136582459	136582459	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:136582459C>T	uc003qgx.1	-	c.2701G>A	c.(2701-2703)GAA>AAA	p.E901K	BCLAF1_uc011edb.1_Missense_Mutation_p.E180K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E728K|BCLAF1_uc003qgy.1_Missense_Mutation_p.E850K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E899K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	901					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)								0.036554	-61.704115	27.518492	14	369	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136582459	136582459	1404	6	C	T	T	T	377	29	BCLAF1	2	2
C6orf97	80129	broad.mit.edu	37	6	151859248	151859248	+	Silent	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:151859248G>A	uc003qol.2	+	c.255G>A	c.(253-255)GAG>GAA	p.E85E		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	85	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)						349				0.100962	20.434894	53.473984	21	187	KEEP	---	---	---	---	capture		Silent	SNP	151859248	151859248	2481	6	G	A	A	A	425	33	C6orf97	2	2
SYNE1	23345	broad.mit.edu	37	6	152680536	152680536	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152680536C>A	uc010kiw.2	-	c.10357G>T	c.(10357-10359)GGG>TGG	p.G3453W	SYNE1_uc003qot.3_Missense_Mutation_p.G3460W|SYNE1_uc003qou.3_Missense_Mutation_p.G3453W|SYNE1_uc010kja.1_Missense_Mutation_p.G158W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3453	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)										0.241135	88.976197	97.598283	34	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152680536	152680536	15966	6	C	A	A	A	312	24	SYNE1	2	2
TCP1	6950	broad.mit.edu	37	6	160206484	160206484	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160206484T>C	uc003qsr.2	-	c.422A>G	c.(421-423)GAT>GGT	p.D141G	TCP1_uc003qss.2_5'UTR|TCP1_uc010kjz.2_Missense_Mutation_p.D141G|TCP1_uc003qst.2_Intron	NM_030752	NP_110379	P17987	TCPA_HUMAN	T-complex protein 1 isoform a	141					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)										0.272189	148.379402	156.282677	46	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160206484	160206484	16235	6	T	C	C	C	650	50	TCP1	4	4
THBS2	7058	broad.mit.edu	37	6	169629774	169629774	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:169629774C>T	uc003qwt.2	-	c.2152G>A	c.(2152-2154)GAT>AAT	p.D718N		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	718	TSP type-3 1.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(4)	4		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		Esophageal Squamous(91;219 1934 18562 44706)								0.1	6.835546	19.625859	8	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169629774	169629774	16382	6	C	T	T	T	390	30	THBS2	2	2
NUP153	9972	broad.mit.edu	37	6	17632972	17632972	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:17632972G>C	uc011dje.1	-	c.2661C>G	c.(2659-2661)GAC>GAG	p.D887E	NUP153_uc003ncd.1_Missense_Mutation_p.D856E|NUP153_uc010jpl.1_Missense_Mutation_p.D814E	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	856	RanBP2-type 4.				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(2)|ovary(1)|skin(1)	4	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)							1004				0.078221	26.0765	144.651965	51	601	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17632972	17632972	11160	6	G	C	C	C	464	36	NUP153	3	3
HIST1H2AA	221613	broad.mit.edu	37	6	25726495	25726495	+	Silent	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:25726495C>T	uc003nfc.2	-	c.261G>A	c.(259-261)GCG>GCA	p.A87A	HIST1H2BA_uc003nfd.2_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	87					nucleosome assembly	nucleosome|nucleus	DNA binding				0														0.156522	69.059645	94.951848	36	194	KEEP	---	---	---	---	capture		Silent	SNP	25726495	25726495	7413	6	C	T	T	T	392	31	HIST1H2AA	1	1
SCAND3	114821	broad.mit.edu	37	6	28542753	28542753	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28542753C>T	uc003nlo.2	-	c.1729G>A	c.(1729-1731)GAT>AAT	p.D577N		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	577					DNA integration|regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.098765	5.833873	18.881363	8	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28542753	28542753	14357	6	C	T	T	T	377	29	SCAND3	2	2
CCHCR1	54535	broad.mit.edu	37	6	31110851	31110851	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31110851G>A	uc003nsp.3	-	c.2380C>T	c.(2380-2382)CTT>TTT	p.L794F	CCHCR1_uc011dne.1_Missense_Mutation_p.L691F|CCHCR1_uc003nsq.3_Missense_Mutation_p.L758F|CCHCR1_uc003nsr.3_Missense_Mutation_p.L705F	NM_001105564	NP_001099034	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	705					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding				0														0.274376	345.267857	365.499806	121	320	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31110851	31110851	3002	6	G	A	A	A	429	33	CCHCR1	2	2
TCF19	6941	broad.mit.edu	37	6	31129531	31129531	+	Silent	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31129531C>A	uc003nss.2	+	c.546C>A	c.(544-546)CTC>CTA	p.L182L	TCF19_uc003nst.2_Silent_p.L182L	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	182					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.111111	4.339095	11.07303	5	40	KEEP	---	---	---	---	capture		Silent	SNP	31129531	31129531	16215	6	C	A	A	A	366	29	TCF19	2	2
TRERF1	55809	broad.mit.edu	37	6	42224500	42224500	+	Missense_Mutation	SNP	A	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42224500A>C	uc003ose.2	-	c.2606T>G	c.(2605-2607)TTG>TGG	p.L869W	TRERF1_uc011duq.1_Missense_Mutation_p.L766W|TRERF1_uc003osb.2_Missense_Mutation_p.L605W|TRERF1_uc003osc.2_Missense_Mutation_p.L605W|TRERF1_uc003osd.2_Missense_Mutation_p.L849W	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	849	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription mediator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)											0.077922	7.559635	49.650195	18	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42224500	42224500	17019	6	A	C	C	C	65	5	TRERF1	4	4
FAM83B	222584	broad.mit.edu	37	6	54806253	54806253	+	Silent	SNP	T	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:54806253T>C	uc003pck.2	+	c.2484T>C	c.(2482-2484)CCT>CCC	p.P828P		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	828										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)													0.213483	51.806617	58.533183	19	70	KEEP	---	---	---	---	capture		Silent	SNP	54806253	54806253	5860	6	T	C	C	C	678	53	FAM83B	4	4
COL19A1	1310	broad.mit.edu	37	6	70852699	70852699	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70852699C>A	uc003pfc.1	+	c.1613C>A	c.(1612-1614)CCG>CAG	p.P538Q	COL19A1_uc010kam.1_Missense_Mutation_p.P434Q	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	538	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4														0.26087	71.158853	75.919591	24	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70852699	70852699	3814	6	C	A	A	A	299	23	COL19A1	1	1
LRRN3	54674	broad.mit.edu	37	7	110764566	110764566	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:110764566C>T	uc003vft.3	+	c.1738C>T	c.(1738-1740)CTT>TTT	p.L580F	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.L580F|LRRN3_uc003vfs.3_Missense_Mutation_p.L580F	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	580	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)										0.072289	-0.421125	15.210268	6	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110764566	110764566	9412	7	C	T	T	T	416	32	LRRN3	2	2
GPR85	54329	broad.mit.edu	37	7	112724255	112724255	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:112724255G>T	uc010ljv.2	-	c.522C>A	c.(520-522)TTC>TTA	p.F174L	GPR85_uc003vgp.1_Missense_Mutation_p.F174L|GPR85_uc003vgq.2_Missense_Mutation_p.F174L|GPR85_uc010ljw.1_Missense_Mutation_p.F174L	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	174	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2														0.093333	7.128369	32.083185	14	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112724255	112724255	6990	7	G	T	T	T	529	41	GPR85	2	2
FSCN3	29999	broad.mit.edu	37	7	127234028	127234028	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127234028G>T	uc003vmd.1	+	c.121G>T	c.(121-123)GCG>TCG	p.A41S	FSCN3_uc003vmc.1_Intron|FSCN3_uc011kog.1_Non-coding_Transcript|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.1_Missense_Mutation_p.A41S	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	41						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1														0.25	15.53742	16.901578	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127234028	127234028	6319	7	G	T	T	T	598	46	FSCN3	2	2
ZNF425	155054	broad.mit.edu	37	7	148801601	148801601	+	Silent	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:148801601C>T	uc003wfj.2	-	c.1362G>A	c.(1360-1362)AGG>AGA	p.R454R		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	454	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)											0.111111	4.272074	9.656298	4	32	KEEP	---	---	---	---	capture		Silent	SNP	148801601	148801601	18492	7	C	T	T	T	389	30	ZNF425	2	2
MLL3	58508	broad.mit.edu	37	7	151917783	151917783	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151917783C>G	uc003wla.2	-	c.3537G>C	c.(3535-3537)TTG>TTC	p.L1179F	MLL3_uc003wkz.2_Missense_Mutation_p.L240F	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1179					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		Colon(68;14 1149 1884 27689 34759)				1780				0.090909	6.796184	17.93164	6	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151917783	151917783	10012	7	C	G	G	G	376	29	MLL3	3	3
TWISTNB	221830	broad.mit.edu	37	7	19738310	19738310	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:19738310C>T	uc003sup.1	-	c.646G>A	c.(646-648)GAA>AAA	p.E216K		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	TWIST neighbor	216						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			ovary(1)	1														0.073394	-0.593608	19.802835	8	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19738310	19738310	17340	7	C	T	T	T	416	32	TWISTNB	2	2
TWISTNB	221830	broad.mit.edu	37	7	19739839	19739839	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:19739839G>C	uc003sup.1	-	c.461C>G	c.(460-462)TCC>TGC	p.S154C		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	TWIST neighbor	154						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			ovary(1)	1														0.137324	84.436541	120.568916	39	245	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19739839	19739839	17340	7	G	C	C	C	533	41	TWISTNB	3	3
DNAH11	8701	broad.mit.edu	37	7	21630855	21630855	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21630855C>T	uc003svc.2	+	c.2327C>T	c.(2326-2328)ACG>ATG	p.T776M		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	776	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.130435	19.061697	31.261959	12	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21630855	21630855	4781	7	C	T	T	T	247	19	DNAH11	1	1
HIBADH	11112	broad.mit.edu	37	7	27565834	27565834	+	Nonstop_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27565834C>A	uc003szf.2	-	c.1010G>T	c.(1009-1011)TGA>TTA	p.*337L	HIBADH_uc003szg.2_Nonstop_Mutation_p.*288L|HIBADH_uc003szh.2_Nonstop_Mutation_p.*236L	NM_152740	NP_689953	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase precursor	337					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			ovary(1)	1			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)									0.294118	54.481864	57.056465	20	48	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	27565834	27565834	7384	7	C	A	A	A	376	29	HIBADH	5	2
SDK1	221935	broad.mit.edu	37	7	4116733	4116733	+	Silent	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4116733C>A	uc003smx.2	+	c.3114C>A	c.(3112-3114)CTC>CTA	p.L1038L	SDK1_uc010kso.2_Silent_p.L314L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1038	Fibronectin type-III 4.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)										0.10084	8.204184	27.137939	12	107	KEEP	---	---	---	---	capture		Silent	SNP	4116733	4116733	14454	7	C	A	A	A	366	29	SDK1	2	2
SDK1	221935	broad.mit.edu	37	7	4198173	4198173	+	Silent	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4198173G>C	uc003smx.2	+	c.4719G>C	c.(4717-4719)ACG>ACC	p.T1573T	SDK1_uc010kso.2_Silent_p.T849T|SDK1_uc003smy.2_Silent_p.T60T	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1573					cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)										0.175439	49.027339	60.352853	20	94	KEEP	---	---	---	---	capture		Silent	SNP	4198173	4198173	14454	7	G	C	C	C	483	38	SDK1	3	3
PCLO	27445	broad.mit.edu	37	7	82595703	82595703	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82595703G>A	uc003uhx.2	-	c.3401C>T	c.(3400-3402)GCA>GTA	p.A1134V	PCLO_uc003uhv.2_Missense_Mutation_p.A1134V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1073					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														0.107527	15.045028	43.498566	20	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82595703	82595703	12003	7	G	A	A	A	598	46	PCLO	2	2
RIMS2	9699	broad.mit.edu	37	8	104922405	104922405	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:104922405C>A	uc003yls.2	+	c.1002C>A	c.(1000-1002)AGC>AGA	p.S334R	RIMS2_uc003ylp.2_Missense_Mutation_p.S556R|RIMS2_uc003ylw.2_Missense_Mutation_p.S364R|RIMS2_uc003ylq.2_Missense_Mutation_p.S364R|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_5'Flank	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	634					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)							728				0.219595	162.400977	183.850615	65	231	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104922405	104922405	13845	8	C	A	A	A	324	25	RIMS2	2	2
KLHL38	340359	broad.mit.edu	37	8	124665152	124665152	+	Silent	SNP	T	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124665152T>C	uc003yqs.1	-	c.15A>G	c.(13-15)TCA>TCG	p.S5S		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	5											0														0.159696	83.978133	112.989085	42	221	KEEP	---	---	---	---	capture		Silent	SNP	124665152	124665152	8704	8	T	C	C	C	756	59	KLHL38	4	4
FAM91A1	157769	broad.mit.edu	37	8	124797966	124797966	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124797966C>T	uc003yqv.2	+	c.947C>T	c.(946-948)TCC>TTC	p.S316F	FAM91A1_uc011lik.1_Missense_Mutation_p.S316F|FAM91A1_uc011lil.1_Missense_Mutation_p.S74F	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	316										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)											0.057377	-9.082385	16.005064	7	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124797966	124797966	5887	8	C	T	T	T	390	30	FAM91A1	2	2
MTSS1	9788	broad.mit.edu	37	8	125580618	125580618	+	Splice_Site_SNP	SNP	A	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:125580618A>G	uc003yrl.2	-	c.630_splice	c.e8+1	p.I210_splice	NDUFB9_uc011lim.1_3'UTR|MTSS1_uc011lin.1_5'Flank|MTSS1_uc011lio.1_Intron|MTSS1_uc003yri.2_Splice_Site_SNP_p.I6_splice|MTSS1_uc003yrk.2_Splice_Site_SNP_p.I206_splice|MTSS1_uc003yrj.2_Splice_Site_SNP_p.I206_splice	NM_014751	NP_055566			metastasis suppressor 1						actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			Esophageal Squamous(160;622 1893 3862 8546 12509)								0.217573	151.679907	169.246084	52	187	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	125580618	125580618	10355	8	A	G	G	G	182	14	MTSS1	5	4
PHF20L1	51105	broad.mit.edu	37	8	133848837	133848837	+	Silent	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133848837G>A	uc003ytt.2	+	c.1962G>A	c.(1960-1962)CTG>CTA	p.L654L	PHF20L1_uc011lja.1_Silent_p.L628L	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	654							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)											0.113208	27.033335	58.34417	24	188	KEEP	---	---	---	---	capture		Silent	SNP	133848837	133848837	12255	8	G	A	A	A	574	45	PHF20L1	2	2
PLEC	5339	broad.mit.edu	37	8	144994218	144994218	+	Silent	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144994218G>A	uc003zaf.1	-	c.10182C>T	c.(10180-10182)ATC>ATT	p.I3394I	PLEC_uc003zab.1_Silent_p.I3257I|PLEC_uc003zac.1_Silent_p.I3261I|PLEC_uc003zad.2_Silent_p.I3257I|PLEC_uc003zae.1_Silent_p.I3225I|PLEC_uc003zag.1_Silent_p.I3235I|PLEC_uc003zah.2_Silent_p.I3243I|PLEC_uc003zaj.2_Silent_p.I3284I	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3394	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.234043	28.29979	31.342584	11	36	KEEP	---	---	---	---	capture		Silent	SNP	144994218	144994218	12478	8	G	A	A	A	577	45	PLEC	2	2
C8orf33	65265	broad.mit.edu	37	8	146278275	146278275	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:146278275G>A	uc003zfc.3	+	c.310G>A	c.(310-312)GAG>AAG	p.E104K	C8orf33_uc003zfd.2_Non-coding_Transcript	NM_023080	NP_075568	Q9H7E9	CH033_HUMAN	hypothetical protein LOC65265	104											0	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)										0.266667	10.092487	10.83068	4	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146278275	146278275	2531	8	G	A	A	A	585	45	C8orf33	2	2
PCM1	5108	broad.mit.edu	37	8	17813044	17813044	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:17813044C>T	uc003wyi.3	+	c.1354C>T	c.(1354-1356)CCG>TCG	p.P452S	PCM1_uc011kyh.1_Missense_Mutation_p.P452S|PCM1_uc003wyj.3_Missense_Mutation_p.P452S|PCM1_uc003wyh.2_Missense_Mutation_p.P491S|PCM1_uc010lta.1_Missense_Mutation_p.P491S	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	452					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|ovary(2)|breast(1)	33				Colorectal(111;0.0789)						797				0.107143	10.209232	23.075132	9	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17813044	17813044	12004	8	C	T	T	T	234	18	PCM1	2	2
CSGALNACT1	55790	broad.mit.edu	37	8	19363303	19363303	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:19363303C>A	uc011kyn.1	-	c.43G>T	c.(43-45)GTG>TTG	p.V15L	CSGALNACT1_uc011kyo.1_Missense_Mutation_p.V15L|CSGALNACT1_uc003wzg.2_Non-coding_Transcript|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.V14L|CSGALNACT1_uc003wzh.2_Non-coding_Transcript	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	15	Helical; Signal-anchor for type II membrane protein; (Potential).				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)										0.2	101.153608	118.315465	41	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19363303	19363303	4079	8	C	A	A	A	234	18	CSGALNACT1	2	2
ERLIN2	11160	broad.mit.edu	37	8	37607085	37607085	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:37607085G>C	uc003xke.3	+	c.433G>C	c.(433-435)GAT>CAT	p.D145H	LOC728024_uc010lvx.1_5'Flank	NM_007175	NP_009106	O94905	ERLN2_HUMAN	ER lipid raft associated 2 isoform 1	145	Lumenal (Potential).				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding				0		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)							180				0.142857	37.42041	51.18663	16	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37607085	37607085	5426	8	G	C	C	C	585	45	ERLIN2	3	3
CHRNB3	1142	broad.mit.edu	37	8	42552716	42552716	+	Silent	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42552716C>A	uc003xpi.1	+	c.27C>A	c.(25-27)CTC>CTA	p.L9L		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	9					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)											0.092486	8.155936	37.08489	16	157	KEEP	---	---	---	---	capture		Silent	SNP	42552716	42552716	3526	8	C	A	A	A	366	29	CHRNB3	2	2
HGSNAT	138050	broad.mit.edu	37	8	43016642	43016642	+	Silent	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:43016642C>G	uc003xpx.3	+	c.555C>G	c.(553-555)CTC>CTG	p.L185L		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	213	Cytoplasmic (Potential).				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)											0.296703	89.088215	92.451888	27	64	KEEP	---	---	---	---	capture		Silent	SNP	43016642	43016642	7372	8	C	G	G	G	405	32	HGSNAT	3	3
TRPA1	8989	broad.mit.edu	37	8	72967797	72967797	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72967797T>A	uc003xza.2	-	c.1403A>T	c.(1402-1404)GAC>GTC	p.D468V		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	468	ANK 11.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)									0.21374	132.15462	151.986567	56	206	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72967797	72967797	17128	8	T	A	A	A	754	58	TRPA1	3	3
ZFHX4	79776	broad.mit.edu	37	8	77619868	77619868	+	Nonsense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77619868C>G	uc003yav.2	+	c.2600C>G	c.(2599-2601)TCA>TGA	p.S867*	ZFHX4_uc003yat.1_Nonsense_Mutation_p.S867*|ZFHX4_uc003yau.1_Nonsense_Mutation_p.S893*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.S867*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	867					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)											0.079545	4.451392	20.32958	7	81	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77619868	77619868	18223	8	C	G	G	G	377	29	ZFHX4	5	3
TMEM67	91147	broad.mit.edu	37	8	94767165	94767165	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:94767165G>T	uc011lgk.1	+	c.23G>T	c.(22-24)GGG>GTG	p.G8V	TMEM67_uc010mau.2_Missense_Mutation_p.G8V|TMEM67_uc010mav.2_Missense_Mutation_p.G8V|TMEM67_uc010mat.1_Intron|TMEM67_uc010maw.2_Missense_Mutation_p.G8V|TMEM67_uc003yga.3_Intron	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	8					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)											0.177778	34.543122	43.343877	16	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94767165	94767165	16735	8	G	T	T	T	559	43	TMEM67	2	2
RNF20	56254	broad.mit.edu	37	9	104323505	104323505	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104323505G>C	uc004bbn.2	+	c.2642G>C	c.(2641-2643)CGA>CCA	p.R881P		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	881	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|regulation of gene-specific transcription|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)	7		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)										0.2891	406.584058	423.404499	122	300	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104323505	104323505	13951	9	G	C	C	C	481	37	RNF20	3	3
NTNG2	84628	broad.mit.edu	37	9	135073529	135073530	+	Missense_Mutation	DNP	CG	AA	AA			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135073529_135073530CG>AA	uc004cbh.2	+	c.390_391CG>AA	c.(388-393)ACCGTG>ACAATG	p.V131M		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	131	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)										0.171429	13.076302	16.610291	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	135073529	135073530	11110	9	CG	AA	AA	AA	288	23	NTNG2	1	1
LCN12	286256	broad.mit.edu	37	9	139847406	139847406	+	Silent	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139847406G>A	uc004ckb.2	+	c.177G>A	c.(175-177)GCG>GCA	p.A59A	LCN12_uc004ckc.2_Silent_p.A59A	NM_178536	NP_848631	Q6JVE5	LCN12_HUMAN	lipocalcin 12 precursor	59					lipid metabolic process	extracellular region	binding|transporter activity				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)										0.116667	7.87882	16.558612	7	53	KEEP	---	---	---	---	capture		Silent	SNP	139847406	139847406	9006	9	G	A	A	A	483	38	LCN12	1	1
KIF27	55582	broad.mit.edu	37	9	86502017	86502017	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:86502017C>G	uc004ana.2	-	c.2178G>C	c.(2176-2178)ATG>ATC	p.M726I	KIF27_uc010mpw.2_Missense_Mutation_p.M726I|KIF27_uc010mpx.2_Missense_Mutation_p.M726I	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	726	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity				0														0.125	12.014989	18.609214	6	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86502017	86502017	8607	9	C	G	G	G	377	29	KIF27	3	3
CENPI	2491	broad.mit.edu	37	X	100382593	100382593	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100382593C>T	uc004egx.2	+	c.1013C>T	c.(1012-1014)TCA>TTA	p.S338L	CENPI_uc011mrg.1_Missense_Mutation_p.S338L|CENPI_uc004egy.2_Missense_Mutation_p.S338L	NM_006733	NP_006724	Q92674	CENPI_HUMAN	centromere protein I	338					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm				skin(1)	1														0.171271	63.105249	81.603956	31	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100382593	100382593	3366	23	C	T	T	T	377	29	CENPI	2	2
MUM1L1	139221	broad.mit.edu	37	X	105450161	105450161	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:105450161G>C	uc004emf.1	+	c.736G>C	c.(736-738)GAT>CAT	p.D246H	MUM1L1_uc004emg.1_Missense_Mutation_p.D246H	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	246										ovary(2)|pancreas(1)|skin(1)	4														0.103448	14.300219	32.49362	12	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105450161	105450161	10380	23	G	C	C	C	429	33	MUM1L1	3	3
RIPPLY1	92129	broad.mit.edu	37	X	106144762	106144762	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:106144762C>G	uc004emr.1	-	c.238G>C	c.(238-240)GGT>CGT	p.G80R	MORC4_uc004emp.3_Intron|CLDN2_uc004emq.1_Intron|RIPPLY1_uc004ems.1_Intron	NM_138382	NP_612391	Q0D2K3	RIPP1_HUMAN	ripply1 homolog	80					negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus					0														0.064516	-13.929426	83.87127	32	464	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106144762	106144762	13861	23	C	G	G	G	273	21	RIPPLY1	3	3
TCEANC	170082	broad.mit.edu	37	X	13680667	13680667	+	Missense_Mutation	SNP	A	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:13680667A>G	uc010neg.1	+	c.130A>G	c.(130-132)ATT>GTT	p.I44V	TCEANC_uc010nee.1_Missense_Mutation_p.I14V|TCEANC_uc010nef.1_Missense_Mutation_p.I14V|TCEANC_uc004cvk.2_Missense_Mutation_p.I14V|TCEANC_uc004cvl.2_Non-coding_Transcript	NM_152634	NP_689847	Q8N8B7	TEANC_HUMAN	TFIIS central domain-containing protein 1	14	TFIIS N-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription elongation regulator activity			pancreas(1)	1														0.115942	54.000282	94.07464	32	244	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13680667	13680667	16204	23	A	G	G	G	208	16	TCEANC	4	4
MAGEC1	9947	broad.mit.edu	37	X	140995615	140995615	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140995615C>G	uc004fbt.2	+	c.2425C>G	c.(2425-2427)CCT>GCT	p.P809A	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	809							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.28	297.38742	311.527616	91	234	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140995615	140995615	9561	23	C	G	G	G	390	30	MAGEC1	3	3
SLITRK2	84631	broad.mit.edu	37	X	144905709	144905709	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144905709T>A	uc004fcd.2	+	c.1766T>A	c.(1765-1767)GTC>GAC	p.V589D	SLITRK2_uc010nsp.2_Missense_Mutation_p.V589D|SLITRK2_uc010nso.2_Missense_Mutation_p.V589D|SLITRK2_uc011mwq.1_Missense_Mutation_p.V589D|SLITRK2_uc011mwr.1_Missense_Mutation_p.V589D|SLITRK2_uc011mws.1_Missense_Mutation_p.V589D|SLITRK2_uc004fcg.2_Missense_Mutation_p.V589D|SLITRK2_uc011mwt.1_Missense_Mutation_p.V589D	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	589	Extracellular (Potential).					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.114286	8.248528	18.517827	8	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144905709	144905709	15241	23	T	A	A	A	754	58	SLITRK2	3	3
PNCK	139728	broad.mit.edu	37	X	152937028	152937028	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152937028C>T	uc011myu.1	-	c.763G>A	c.(763-765)GCC>ACC	p.A255T	PNCK_uc011myt.1_Missense_Mutation_p.A189T|PNCK_uc004fia.2_Missense_Mutation_p.A184T|PNCK_uc004fhz.3_Missense_Mutation_p.A70T|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.A199T|PNCK_uc011myw.1_Missense_Mutation_p.A199T	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	pregnancy upregulated non-ubiquitously expressed	172	Protein kinase.				protein phosphorylation	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)									91				0.152778	19.976671	28.283782	11	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152937028	152937028	12571	23	C	T	T	T	351	27	PNCK	1	1
CDKL5	6792	broad.mit.edu	37	X	18606111	18606111	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:18606111G>T	uc004cym.2	+	c.592G>T	c.(592-594)GGC>TGC	p.G198C	CDKL5_uc004cyn.2_Missense_Mutation_p.G198C	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	198	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	Hepatocellular(33;0.183)									244				0.140146	158.514874	244.097015	96	589	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18606111	18606111	3286	23	G	T	T	T	559	43	CDKL5	2	2
MAP7D2	256714	broad.mit.edu	37	X	20043822	20043822	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:20043822C>T	uc010nfo.1	-	c.1256G>A	c.(1255-1257)GGA>GAA	p.G419E	MAP7D2_uc004czq.1_Missense_Mutation_p.G263E|MAP7D2_uc011mji.1_Missense_Mutation_p.G326E|MAP7D2_uc004czr.1_Missense_Mutation_p.G378E|MAP7D2_uc011mjj.1_Missense_Mutation_p.G333E	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	378										ovary(2)|breast(1)	3														0.117647	41.523503	83.090482	34	255	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20043822	20043822	9651	23	C	T	T	T	390	30	MAP7D2	2	2
IL1RAPL1	11141	broad.mit.edu	37	X	29414538	29414538	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:29414538G>C	uc004dby.2	+	c.526G>C	c.(526-528)GAA>CAA	p.E176Q		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	176	Ig-like C2-type 2.|Extracellular (Potential).				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5														0.191617	88.101507	102.938541	32	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29414538	29414538	7962	23	G	C	C	C	429	33	IL1RAPL1	3	3
SHROOM4	57477	broad.mit.edu	37	X	50350944	50350944	+	Silent	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50350944C>A	uc004dpe.2	-	c.3198G>T	c.(3196-3198)GCG>GCT	p.A1066A	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1066					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding				0	Ovarian(276;0.236)													0.107143	6.209231	14.784531	6	50	KEEP	---	---	---	---	capture		Silent	SNP	50350944	50350944	14791	23	C	A	A	A	340	27	SHROOM4	1	1
KDM5C	8242	broad.mit.edu	37	X	53245042	53245042	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53245042G>C	uc004drz.2	-	c.898C>G	c.(898-900)CAC>GAC	p.H300D	KDM5C_uc011moc.1_Non-coding_Transcript|KDM5C_uc011mod.1_Missense_Mutation_p.H233D|KDM5C_uc004dsa.2_Missense_Mutation_p.H299D	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	300					chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18														0.196532	96.747612	111.591872	34	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53245042	53245042	8441	23	G	C	C	C	585	45	KDM5C	3	3
OPHN1	4983	broad.mit.edu	37	X	67518843	67518843	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:67518843C>A	uc004dww.3	-	c.250G>T	c.(250-252)GCT>TCT	p.A84S	OPHN1_uc011mpg.1_Missense_Mutation_p.A84S|OPHN1_uc004dwx.2_Missense_Mutation_p.A84S	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	84					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2														0.176166	81.934588	101.0071	34	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67518843	67518843	11281	23	C	A	A	A	299	23	OPHN1	1	1
P2RY4	5030	broad.mit.edu	37	X	69478529	69478529	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69478529G>C	uc004dxz.1	-	c.946C>G	c.(946-948)CAG>GAG	p.Q316E		NM_002565	NP_002556	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y4	316	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0														0.148649	25.176969	33.940669	11	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69478529	69478529	11766	23	G	C	C	C	585	45	P2RY4	3	3
KAL1	3730	broad.mit.edu	37	X	8536381	8536381	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:8536381C>T	uc004csf.2	-	c.1099G>A	c.(1099-1101)GAC>AAC	p.D367N		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	367	Fibronectin type-III 2.				axon guidance|cell adhesion|cellular component movement	cell surface|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4														0.115741	31.503317	62.9297	25	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8536381	8536381	8278	23	C	T	T	T	416	32	KAL1	2	2
DACH2	117154	broad.mit.edu	37	X	86067861	86067861	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:86067861G>A	uc004eew.2	+	c.1243G>A	c.(1243-1245)GAG>AAG	p.E415K	DACH2_uc004eex.2_Missense_Mutation_p.E402K|DACH2_uc010nmq.2_Missense_Mutation_p.E281K|DACH2_uc011mra.1_Missense_Mutation_p.E248K|DACH2_uc010nmr.2_Missense_Mutation_p.E196K|DACH2_uc004eey.2_Missense_Mutation_p.E98K|DACH2_uc004eez.2_Missense_Mutation_p.E98K	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5														0.086022	4.422314	20.576118	8	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86067861	86067861	4387	23	G	A	A	A	429	33	DACH2	2	2
C10orf47	254427	broad.mit.edu	37	10	11911725	11911726	+	Frame_Shift_Ins	INS	-	A	A			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:11911725_11911726insA	uc001ikx.2	+	c.628_629insA	c.(628-630)GCCfs	p.A210fs		NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	hypothetical protein LOC254427	210	Pro-rich.									central_nervous_system(1)	1														0.38			3	5		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	11911725	11911726	1642	10	-	A	A	A	442	34	C10orf47	5	5
SLCO1C1	53919	broad.mit.edu	37	12	20874949	20874949	+	Frame_Shift_Del	DEL	G	-	-			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:20874949_20874949delG	uc010sii.1	+	c.987_987delG	c.(985-987)CAGfs	p.Q329fs	SLCO1C1_uc010sij.1_Frame_Shift_Del_p.Q280fs|SLCO1C1_uc001rej.3_Frame_Shift_Del_p.Q329fs|SLCO1C1_uc009zip.2_Frame_Shift_Del_p.Q163fs|SLCO1C1_uc001rei.2_Frame_Shift_Del_p.Q329fs|SLCO1C1_uc010sik.1_Frame_Shift_Del_p.Q211fs	NM_001145946	NP_001139418	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	329	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)	6	Esophageal squamous(101;0.149)													0.42			34	46		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	20874949	20874949	15222	12	G	-	-	-	451	35	SLCO1C1	5	5
C14orf180	400258	broad.mit.edu	37	14	105054102	105054103	+	Frame_Shift_Ins	INS	-	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105054102_105054103insC	uc001yow.1	+	c.128_129insC	c.(127-129)TGCfs	p.C43fs	C14orf180_uc010tyh.1_Frame_Shift_Ins_p.C43fs|C14orf180_uc010awy.1_Frame_Shift_Ins_p.C43fs	NM_001008404	NP_001008404	Q8N912	CN180_HUMAN	hypothetical protein LOC400258	43						integral to membrane					0		Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)										0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	105054102	105054103	1812	14	-	C	C	C	598	46	C14orf180	5	5
CHERP	10523	broad.mit.edu	37	19	16646370	16646371	+	Frame_Shift_Ins	INS	-	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16646370_16646371insG	uc002nei.1	-	c.276_277insC	c.(274-279)CCCGCCfs	p.P92fs	MED26_uc002nee.2_Intron|CHERP_uc002nej.2_Frame_Shift_Ins_p.P60fs	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	92_93					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2														0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	16646370	16646371	3470	19	-	G	G	G	351	27	CHERP	5	5
SPRED3	399473	broad.mit.edu	37	19	38885396	38885397	+	Frame_Shift_Ins	INS	-	C	C	rs77844291	byFrequency;by1000genomes	TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38885396_38885397insC	uc002oim.2	+	c.537_538insC	c.(535-540)ACGCCCfs	p.T179fs		NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	179_180					multicellular organismal development					central_nervous_system(2)|lung(1)|skin(1)	4	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)											0.38			3	5		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	38885396	38885397	15607	19	-	C	C	C	483	38	SPRED3	5	5
KCNQ4	9132	broad.mit.edu	37	1	41289922	41289923	+	Frame_Shift_Ins	INS	-	G	G			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:41289922_41289923insG	uc001cgh.1	+	c.1284_1285insG	c.(1282-1287)CCTGGGfs	p.P428fs	KCNQ4_uc001cgi.1_Intron	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein	428_429	Cytoplasmic.				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)											0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	41289922	41289923	8390	1	-	G	G	G	704	55	KCNQ4	5	5
DLG3	1741	broad.mit.edu	37	X	69665334	69665335	+	Frame_Shift_Ins	INS	-	C	C			TCGA-64-1677-01	TCGA-64-1677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69665334_69665335insC	uc004dyi.1	+	c.283_284insC	c.(283-285)ACCfs	p.T95fs		NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	95					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)													0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	69665334	69665335	4736	23	-	C	C	C	78	6	DLG3	5	5
