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	i_TCGAscape_Amplification_Peaks	i_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_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
CYP17A1	1586	broad.mit.edu	36	10	104582378	104582378	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104582378C>T	uc001kwg.1	-	c.1019G>A	c.(1018-1020)CGC>CAC	p.R340H		NM_000102	NP_000093	P05093	CP17A_HUMAN	cytochrome P450, family 17	340					androgen biosynthetic process|glucocorticoid biosynthetic process|oxidation-reduction process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)					154				0.529851	649.212125	649.542724	213	189	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	104582378	104582378	4312	10	C	T	T	27	27	CYP17A1	T	1	1
DIP2C	22982	broad.mit.edu	36	10	400476	400477	+	Missense_Mutation	DNP	AA	GC	GC			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:400476_400477AA>GC	uc001ifp.1	-	c.2314_2315TT>GC	c.(2314-2316)TTC>GCC	p.F772A	DIP2C_uc009xhi.1_Missense_Mutation_p.F158A	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	772						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)						1018				0.277778	9.370736	10.16952	5	13	AA		KEEP	---	---	---	---	capture			Missense_Mutation	DNP	400476	400477	4708	10	AA	GC	GC	9	9	DIP2C	GC	4	4
ITIH2	3698	broad.mit.edu	36	10	7820727	7820727	+	Missense_Mutation	SNP	G	T	T			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:7820727G>T	uc001ijs.1	+	c.2095G>T	c.(2095-2097)GTT>TTT	p.V699F		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	699					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)	2														0.314286	18.292184	19.37831	11	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7820727	7820727	8208	10	G	T	T	35	35	ITIH2	T	3	3
KCNMA1	3778	broad.mit.edu	36	10	78448803	78448803	+	Silent	SNP	G	A	A			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:78448803G>A	uc001jxn.1	-	c.1989C>T	c.(1987-1989)ATC>ATT	p.I663I	KCNMA1_uc001jxj.1_Silent_p.I667I|KCNMA1_uc009xrt.1_Silent_p.I483I|KCNMA1_uc001jxm.1_Silent_p.I663I|KCNMA1_uc001jxo.1_Silent_p.I663I|KCNMA1_uc001jxk.1_Silent_p.I278I|KCNMA1_uc001jxl.1_Silent_p.I317I	NM_002247	NP_002238	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	663	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|catalytic activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)									0.193548	15.232586	17.948709	6	25	GG		KEEP	---	---	---	---	capture			Silent	SNP	78448803	78448803	8378	10	G	A	A	37	37	KCNMA1	A	1	1
ZMIZ1	57178	broad.mit.edu	36	10	80742458	80742458	+	Silent	SNP	C	A	A			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:80742458C>A	uc001kaf.1	+	c.3150C>A	c.(3148-3150)CCC>CCA	p.P1050P	ZMIZ1_uc001kag.1_Silent_p.P926P	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	1050					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)	3	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)											0.25	63.900054	69.812791	26	78	CC		KEEP	---	---	---	---	capture			Silent	SNP	80742458	80742458	18287	10	C	A	A	23	23	ZMIZ1	A	3	3
CYP2C9	1559	broad.mit.edu	36	10	96692038	96692038	+	Missense_Mutation	SNP	G	A	A	rs28399507	unknown	TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:96692038G>A	uc001kka.2	+	c.431G>A	c.(430-432)CGT>CAT	p.R144H	CYP2C9_uc009xut.1_Missense_Mutation_p.R144H|CYP2C9_uc001kjz.2_Missense_Mutation_p.R144H	NM_000771	NP_000762	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C,	144					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			ovary(2)	2		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	Ovarian(54;1266 1406 16072 35076)								0.614035	674.902355	678.807293	210	132	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96692038	96692038	4333	10	G	A	A	40	40	CYP2C9	A	1	1
BIRC3	330	broad.mit.edu	36	11	101707052	101707052	+	Silent	SNP	A	C	C			TCGA-19-1388-01	TCGA-19-1388-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:101707052A>C	uc001pgx.1	+	c.1194A>C	c.(1192-1194)ACA>ACC	p.T398T	BIRC3_uc009yxb.1_Silent_p.T398T	NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	398					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)						113				0.306452	96.515416	100.651794	38	86	AA		KEEP	---	---	---	---	capture			Silent	SNP	101707052	101707052	1461	11	A	C	C	7	7	BIRC3	C	4	4
C11orf63	79864	broad.mit.edu	36	11	122310501	122310501	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:122310501C>T	uc001pym.1	+	c.1142C>T	c.(1141-1143)ACG>ATG	p.T381M		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	381										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)										0.290323	21.762238	22.984011	9	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122310501	122310501	1693	11	C	T	T	19	19	C11orf63	T	1	1
NUP98	4928	broad.mit.edu	36	11	3753821	3753821	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:3753821C>T	uc001lyh.1	-	c.362G>A	c.(361-363)GGA>GAA	p.G121E	NUP98_uc001lyi.1_Missense_Mutation_p.G121E|NUP98_uc001lyj.1_Missense_Mutation_p.G121E|NUP98_uc001lyk.1_Missense_Mutation_p.G121E	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	121	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(2)|ovary(1)|kidney(1)|central_nervous_system(1)	9		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)						613				0.111111	7.121532	15.185765	6	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3753821	3753821	11178	11	C	T	T	30	30	NUP98	T	2	2
LRRC55	219527	broad.mit.edu	36	11	56706381	56706381	+	Missense_Mutation	SNP	G	C	C			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56706381G>C	uc001njl.1	+	c.438G>C	c.(436-438)GAG>GAC	p.E146D		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	116	LRR 2.					integral to membrane					0														0.230769	6.622855	7.483507	3	10	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56706381	56706381	9386	11	G	C	C	34	34	LRRC55	C	3	3
C11orf85	283129	broad.mit.edu	36	11	64473814	64473814	+	Nonsense_Mutation	SNP	C	T	T			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64473814C>T	uc001ocb.1	-	c.326G>A	c.(325-327)TGG>TAG	p.W109*	C11orf85_uc001occ.1_Non-coding_Transcript|C11orf85_uc001ocd.1_Intron	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN	hypothetical protein LOC283129	109											0														0.19174	274.952908	335.197775	130	548	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	64473814	64473814	1707	11	C	T	T	21	21	C11orf85	T	5	2
SAC3D1	29901	broad.mit.edu	36	11	64568544	64568544	+	Silent	SNP	G	A	A			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64568544G>A	uc001ocl.1	+	c.846G>A	c.(844-846)TTG>TTA	p.L282L	SAC3D1_uc001ocm.1_Silent_p.L282L	NM_013299	NP_037431			SAC3 domain containing 1												0														0.263158	7.157646	8.130023	5	14	GG		KEEP	---	---	---	---	capture			Silent	SNP	64568544	64568544	14282	11	G	A	A	47	47	SAC3D1	A	2	2
GPR133	283383	broad.mit.edu	36	12	130186611	130186611	+	Missense_Mutation	SNP	G	C	C			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:130186611G>C	uc001uit.2	+	c.2344G>C	c.(2344-2346)GGT>CGT	p.G782R	GPR133_uc009zyo.1_Missense_Mutation_p.G64R|GPR133_uc009zyp.1_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	782	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)										0.227273	6.588158	8.07758	5	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130186611	130186611	6917	12	G	C	C	39	39	GPR133	C	3	3
EP400	57634	broad.mit.edu	36	12	131077983	131077983	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131077983C>T	uc001ujn.1	+	c.5063C>T	c.(5062-5064)CCC>CTC	p.P1688L	EP400_uc001ujl.1_Missense_Mutation_p.P1687L|EP400_uc001ujm.1_Missense_Mutation_p.P1607L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1724					histone H2A acetylation|histone H4 acetylation	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)										0.307692	6.687378	7.120835	4	9	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131077983	131077983	5342	12	C	T	T	22	22	EP400	T	2	2
EP400	57634	broad.mit.edu	36	12	131127080	131127080	+	Missense_Mutation	SNP	G	T	T			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131127080G>T	uc001ujn.1	+	c.9088G>T	c.(9088-9090)GCT>TCT	p.A3030S	EP400_uc001ujl.1_Missense_Mutation_p.A3029S|EP400_uc001ujp.1_Missense_Mutation_p.A240S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	3066					histone H2A acetylation|histone H4 acetylation	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)										0.128205	7.654511	12.902168	5	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131127080	131127080	5342	12	G	T	T	46	46	EP400	T	3	3
ZNF84	7637	broad.mit.edu	36	12	132145325	132145325	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:132145325G>A	uc001ulm.2	+	c.1951G>A	c.(1951-1953)GGA>AGA	p.G651R	ZNF84_uc009zyy.1_Missense_Mutation_p.G651R|ZNF84_uc009zyz.1_Missense_Mutation_p.G651R|ZNF84_uc009zza.1_Missense_Mutation_p.G651R	NM_003428	NP_003419	P51523	ZNF84_HUMAN	zinc finger protein 84	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000535)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;4.04e-08)|Epithelial(86;7.85e-07)|all cancers(50;2.74e-05)										0.538462	42.488715	42.517432	14	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	132145325	132145325	18789	12	G	A	A	35	35	ZNF84	A	2	2
IFLTD1	160492	broad.mit.edu	36	12	25570315	25570315	+	Nonsense_Mutation	SNP	G	T	T			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:25570315G>T	uc001rgs.1	-	c.720C>A	c.(718-720)TGC>TGA	p.C240*	IFLTD1_uc001rgt.1_Nonsense_Mutation_p.C143*|IFLTD1_uc009zjc.1_Intron	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	240						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)													0.115385	8.012115	15.588286	6	46	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	25570315	25570315	7831	12	G	T	T	46	46	IFLTD1	T	5	3
CCNT1	904	broad.mit.edu	36	12	47373778	47373778	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47373778C>T	uc001rse.1	-	c.1486G>A	c.(1486-1488)GTA>ATA	p.V496I	LOC144438_uc001rsd.2_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.V211I	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	496					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein binding			ovary(3)|lung(1)|breast(1)	5										169				0.161017	64.298208	90.123113	38	198	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47373778	47373778	3061	12	C	T	T	17	17	CCNT1	T	2	2
KRT75	9119	broad.mit.edu	36	12	51108682	51108682	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51108682C>T	uc001saj.2	-	c.1148G>A	c.(1147-1149)AGC>AAC	p.S383N		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	383	Coil 2.|Rod.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)										0.184211	8.467155	11.980776	7	31	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51108682	51108682	8803	12	C	T	T	28	28	KRT75	T	2	2
HOXC4	3221	broad.mit.edu	36	12	52734240	52734240	+	Silent	SNP	C	T	T			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:52734240C>T	uc001seu.1	+	c.267C>T	c.(265-267)CAC>CAT	p.H89H	HOXC4_uc001sex.1_Silent_p.H89H	NM_014620	NP_705897	P09017	HXC4_HUMAN	homeobox C4	89					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														1	8.040406	7.921803	3	0	CC		KEEP	---	---	---	---	capture			Silent	SNP	52734240	52734240	7605	12	C	T	T	18	18	HOXC4	T	2	2
TDRD3	81550	broad.mit.edu	36	13	59955982	59955982	+	Splice_Site_SNP	SNP	G	T	T			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:59955982G>T	uc010aeg.1	+	c.e6_splice_site			TDRD3_uc010aef.1_Splice_Site_SNP|TDRD3_uc001vhz.2_Splice_Site_SNP|TDRD3_uc001via.1_Splice_Site_SNP|TDRD3_uc001vib.2_Splice_Site_SNP	NM_030794	NP_110421			tudor domain containing 3						chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity				0		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		Colon(36;164 906 35820 50723)								0.345679	79.86553	81.573242	28	53	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	59955982	59955982	16259	13	G	T	T	44	44	TDRD3	T	5	3
SLITRK6	84189	broad.mit.edu	36	13	85266180	85266180	+	Missense_Mutation	SNP	T	A	A			TCGA-19-1388-01	TCGA-19-1388-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:85266180T>A	uc001vll.1	-	c.2465A>T	c.(2464-2466)GAA>GTA	p.E822V	SLITRK6_uc010afe.1_Missense_Mutation_p.E275V|SLITRK6_uc010aff.1_Missense_Mutation_p.E822V	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6	822	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)										0.146067	36.239423	57.688446	26	152	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85266180	85266180	15245	13	T	A	A	62	62	SLITRK6	A	4	4
DACT1	51339	broad.mit.edu	36	14	58178107	58178107	+	Missense_Mutation	SNP	T	C	C			TCGA-19-1388-01	TCGA-19-1388-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:58178107T>C	uc001xdw.1	+	c.523T>C	c.(523-525)TCC>CCC	p.S175P	DACT1_uc001xdx.1_Missense_Mutation_p.S175P	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	175					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5														0.178771	68.294892	85.678533	32	147	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58178107	58178107	4388	14	T	C	C	62	62	DACT1	C	4	4
FBLN5	10516	broad.mit.edu	36	14	91479022	91479022	+	Silent	SNP	T	G	G			TCGA-19-1388-01	TCGA-19-1388-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:91479022T>G	uc010aue.1	-	c.54A>C	c.(52-54)CCA>CCC	p.P18P	FBLN5_uc010aud.1_Silent_p.P23P|FBLN5_uc001xzx.2_Silent_p.P18P	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	18					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			ovary(3)|lung(1)|skin(1)	5		all_cancers(154;0.0722)								478				0.5	6.420593	6.420593	3	3	TT		KEEP	---	---	---	---	capture			Silent	SNP	91479022	91479022	5936	14	T	G	G	63	63	FBLN5	G	4	4
CHST14	113189	broad.mit.edu	36	15	38551035	38551035	+	Silent	SNP	A	C	C			TCGA-19-1388-01	TCGA-19-1388-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38551035A>C	uc001zlw.1	+	c.331A>C	c.(331-333)AGG>CGG	p.R111R		NM_130468	NP_569735	Q8NCH0	CHSTE_HUMAN	dermatan 4 sulfotransferase 1	111	Lumenal (Potential).				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding				0		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)										1	10.053306	9.991927	4	0	AA		KEEP	---	---	---	---	capture			Silent	SNP	38551035	38551035	3536	15	A	C	C	7	7	CHST14	C	4	4
PLDN	26258	broad.mit.edu	36	15	43671767	43671767	+	Splice_Site_SNP	SNP	G	A	A			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:43671767G>A	uc001zvq.1	+	c.e2_splice_site			PLDN_uc001zvr.1_Splice_Site_SNP|PLDN_uc001zvs.1_Splice_Site_SNP	NM_012388	NP_036520			pallidin						post-Golgi vesicle-mediated transport|synaptic vesicle docking involved in exocytosis	BLOC-1 complex|endomembrane system|membrane	identical protein binding|syntaxin-13 binding				0		Lung NSC(122;1.6e-06)|all_lung(180;1.13e-05)|Melanoma(134;0.027)		all cancers(107;6.58e-18)|GBM - Glioblastoma multiforme(94;5.91e-07)										0.257143	75.08087	80.690827	27	78	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	43671767	43671767	12477	15	G	A	A	40	40	PLDN	A	5	1
TRPM7	54822	broad.mit.edu	36	15	48660371	48660371	+	Silent	SNP	G	A	A			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:48660371G>A	uc001zyt.2	-	c.4584C>T	c.(4582-4584)AAC>AAT	p.N1528N	TRPM7_uc001zyr.1_5'UTR	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1528	Cytoplasmic (Potential).				cell death|protein phosphorylation	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|breast(1)|central_nervous_system(1)	8				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)						1796				0.191489	19.448675	23.627793	9	38	GG		KEEP	---	---	---	---	capture			Silent	SNP	48660371	48660371	17142	15	G	A	A	48	48	TRPM7	A	2	2
OTOA	146183	broad.mit.edu	36	16	21606245	21606245	+	Missense_Mutation	SNP	A	G	G			TCGA-19-1388-01	TCGA-19-1388-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21606245A>G	uc002djh.1	+	c.410A>G	c.(409-411)GAC>GGC	p.D137G		NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	137					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0414)										0.522013	250.366264	250.431801	83	76	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21606245	21606245	11714	16	A	G	G	10	10	OTOA	G	4	4
CNOT1	23019	broad.mit.edu	36	16	57120008	57120008	+	Missense_Mutation	SNP	A	G	G			TCGA-19-1388-01	TCGA-19-1388-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:57120008A>G	uc002env.1	-	c.6325T>C	c.(6325-6327)TTC>CTC	p.F2109L	CNOT1_uc002enw.1_Non-coding_Transcript|CNOT1_uc002enu.2_Missense_Mutation_p.F2104L|CNOT1_uc002ent.1_Missense_Mutation_p.F47L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2109					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)										0.189189	7.102669	10.459694	7	30	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57120008	57120008	3755	16	A	G	G	2	2	CNOT1	G	4	4
CA10	56934	broad.mit.edu	36	17	47180077	47180077	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:47180077C>T	uc002itv.2	-	c.398G>A	c.(397-399)CGG>CAG	p.R133Q	CA10_uc002itw.2_Missense_Mutation_p.R127Q|CA10_uc002itx.2_Missense_Mutation_p.R127Q|CA10_uc002ity.2_Missense_Mutation_p.R127Q|CA10_uc002itz.2_Missense_Mutation_p.R127Q|CA10_uc002itu.2_Missense_Mutation_p.R56Q	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	127					brain development					ovary(1)	1			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)											0.21374	60.677116	70.564086	28	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47180077	47180077	2627	17	C	T	T	23	23	CA10	T	1	1
ANKFN1	162282	broad.mit.edu	36	17	51758620	51758620	+	Missense_Mutation	SNP	C	A	A			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:51758620C>A	uc002iun.1	+	c.102C>A	c.(100-102)AGC>AGA	p.S34R		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	34										large_intestine(1)|ovary(1)	2														0.121212	8.313198	17.575967	8	58	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51758620	51758620	628	17	C	A	A	26	26	ANKFN1	A	3	3
RAB37	326624	broad.mit.edu	36	17	70250920	70250920	+	Missense_Mutation	SNP	G	C	C			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70250920G>C	uc002jlk.1	+	c.304G>C	c.(304-306)GAT>CAT	p.D102H	RAB37_uc002jld.1_Missense_Mutation_p.D95H|RAB37_uc010dfv.1_Missense_Mutation_p.D95H|RAB37_uc002jll.2_Non-coding_Transcript|RAB37_uc010dfu.1_Missense_Mutation_p.D95H|RAB37_uc002jlc.1_Missense_Mutation_p.D95H|RAB37_uc002jlm.1_5'Flank	NM_001006638	NP_001006639	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family isoform 2	102					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			ovary(1)	1														0.333333	6.688367	6.987398	4	8	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70250920	70250920	13386	17	G	C	C	33	33	RAB37	C	3	3
GGA3	23163	broad.mit.edu	36	17	70750147	70750147	+	Silent	SNP	G	A	A			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70750147G>A	uc002jni.1	-	c.612C>T	c.(610-612)GAC>GAT	p.D204D	GGA3_uc002jnj.1_Silent_p.D171D|GGA3_uc002jnk.1_Silent_p.D132D	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	204	GAT.|Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)											0.558824	59.024331	59.126565	19	15	GG		KEEP	---	---	---	---	capture			Silent	SNP	70750147	70750147	6622	17	G	A	A	40	40	GGA3	A	1	1
EVPL	2125	broad.mit.edu	36	17	71516391	71516391	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71516391C>T	uc002jqi.2	-	c.4490G>A	c.(4489-4491)CGG>CAG	p.R1497Q		NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1497	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)	3														0.643216	423.660936	427.274033	128	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71516391	71516391	5485	17	C	T	T	23	23	EVPL	T	1	1
PPAN-P2RY11	692312	broad.mit.edu	36	19	10079518	10079519	+	Missense_Mutation	DNP	CC	TG	TG			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10079518_10079519CC>TG	uc002mna.1	+	c.330_331CC>TG	c.(328-333)TTCCAG>TTTGAG	p.Q111E	PPAN_uc002mmz.1_Missense_Mutation_p.Q111E|PPAN_uc002mnb.1_Missense_Mutation_p.Q58E|SNORD105B_uc010dwz.1_5'Flank	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	111	Brix.				RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)											0.222222	8.728955	10.655218	6	21	CC		KEEP	---	---	---	---	capture			Missense_Mutation	DNP	10079518	10079519	12719	19	CC	TG	TG	30	30	PPAN-P2RY11	TG	2	2
ZNF709	163051	broad.mit.edu	36	19	12436682	12436682	+	Silent	SNP	G	T	T			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12436682G>T	uc002mtv.2	-	c.1054C>A	c.(1054-1056)CGA>AGA	p.R352R	ZNF709_uc002mtw.2_Silent_p.R320R|ZNF709_uc002mtx.2_Silent_p.R352R	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	zinc finger protein 709	352	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GBM(33;565 669 12371 29134 51667)								0.089005	7.745487	40.327304	17	174	GG		KEEP	---	---	---	---	capture			Silent	SNP	12436682	12436682	18709	19	G	T	T	37	37	ZNF709	T	3	3
PRDX2	7001	broad.mit.edu	36	19	12772864	12772864	+	Silent	SNP	A	G	G			TCGA-19-1388-01	TCGA-19-1388-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12772864A>G	uc002mvd.1	-	c.123T>C	c.(121-123)TTT>TTC	p.F41F	PRDX2_uc002mve.1_Silent_p.F41F	NM_005809	NP_005800	P32119	PRDX2_HUMAN	peroxiredoxin 2 isoform a	41	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|oxidation-reduction process|removal of superoxide radicals		thioredoxin peroxidase activity				0														0.208333	6.754444	8.656659	5	19	AA		KEEP	---	---	---	---	capture			Silent	SNP	12772864	12772864	12908	19	A	G	G	1	1	PRDX2	G	4	4
PIP5K1C	23396	broad.mit.edu	36	19	3615857	3615857	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3615857C>T	uc002lyj.1	-	c.182G>A	c.(181-183)CGA>CAA	p.R61Q		NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	61					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		Esophageal Squamous(135;99 1744 12852 27186 39851)				246				0.2	9.130834	11.647295	6	24	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3615857	3615857	12365	19	C	T	T	31	31	PIP5K1C	T	1	1
TSHZ3	57616	broad.mit.edu	36	19	36461263	36461263	+	Missense_Mutation	SNP	C	A	A			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:36461263C>A	uc002nsy.2	-	c.1276G>T	c.(1276-1278)GTG>TTG	p.V426L		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	426					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)													0.286458	84.59122	92.442643	55	137	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36461263	36461263	17176	19	C	A	A	17	17	TSHZ3	A	3	3
SAFB2	9667	broad.mit.edu	36	19	5572325	5572325	+	Missense_Mutation	SNP	A	T	T			TCGA-19-1388-01	TCGA-19-1388-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5572325A>T	uc002mcd.1	-	c.269T>A	c.(268-270)GTT>GAT	p.V90D	SAFB_uc002mcf.1_5'Flank|SAFB_uc002mcg.1_5'Flank|SAFB_uc002mce.2_5'Flank	NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		Ovarian(127;888 1728 23957 44128 52668)								0.227273	6.955161	8.467339	5	17	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5572325	5572325	14287	19	A	T	T	2	2	SAFB2	T	4	4
NLRP2	55655	broad.mit.edu	36	19	60186443	60186443	+	Missense_Mutation	SNP	A	G	G	rs61735083	unknown	TCGA-19-1388-01	TCGA-19-1388-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60186443A>G	uc002qij.1	+	c.1565A>G	c.(1564-1566)GAA>GGA	p.E522G	NLRP2_uc010esm.1_Non-coding_Transcript|NLRP2_uc010esn.1_Missense_Mutation_p.E498G|NLRP2_uc010eso.1_Missense_Mutation_p.E519G|NLRP2_uc010esp.1_Missense_Mutation_p.E500G	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	522	NACHT.|Poly-Glu.				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)										0.375	6.825441	6.934054	3	5	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60186443	60186443	10880	19	A	G	G	9	9	NLRP2	G	4	4
ZNF135	7694	broad.mit.edu	36	19	63270546	63270546	+	Silent	SNP	T	A	A			TCGA-19-1388-01	TCGA-19-1388-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63270546T>A	uc002qre.1	+	c.882T>A	c.(880-882)GGT>GGA	p.G294G	ZNF135_uc002qrd.1_Silent_p.G252G|ZNF135_uc002qrf.1_Silent_p.G252G|ZNF135_uc002qrg.2_Silent_p.G264G	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	306					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)										0.205882	12.713776	15.43867	7	27	TT		KEEP	---	---	---	---	capture			Silent	SNP	63270546	63270546	18316	19	T	A	A	59	59	ZNF135	A	4	4
AADACL4	343066	broad.mit.edu	36	1	12648900	12648900	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12648900G>A	uc001auf.1	+	c.791G>A	c.(790-792)CGT>CAT	p.R264H		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	264	Lumenal (Potential).					integral to membrane	carboxylesterase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)										0.18107	173.076628	219.431539	88	398	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12648900	12648900	14	1	G	A	A	40	40	AADACL4	A	1	1
MRPL9	65005	broad.mit.edu	36	1	149999258	149999258	+	Silent	SNP	T	C	C			TCGA-19-1388-01	TCGA-19-1388-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149999258T>C	uc001eyv.1	-	c.696A>G	c.(694-696)AGA>AGG	p.R232R	MRPL9_uc009wmz.1_Non-coding_Transcript|OAZ3_uc001eyw.2_5'Flank	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	232					translation	mitochondrial ribosome	structural constituent of ribosome			ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)											0.162162	12.047212	20.104359	12	62	TT		KEEP	---	---	---	---	capture			Silent	SNP	149999258	149999258	10213	1	T	C	C	54	54	MRPL9	C	4	4
TCHH	7062	broad.mit.edu	36	1	150347445	150347445	+	Silent	SNP	G	A	A			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150347445G>A	uc001ezp.2	-	c.4872C>T	c.(4870-4872)GAC>GAT	p.D1624D	TCHH_uc009wne.1_Silent_p.D1624D	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1624	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.190476	21.859888	27.520559	12	51	GG		KEEP	---	---	---	---	capture			Silent	SNP	150347445	150347445	16226	1	G	A	A	40	40	TCHH	A	1	1
SMG5	23381	broad.mit.edu	36	1	154488875	154488875	+	Silent	SNP	G	T	T			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154488875G>T	uc001foc.2	-	c.2707C>A	c.(2707-2709)CGG>AGG	p.R903R	SMG5_uc009wrv.1_Intron	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Est1p-like protein B	903	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)													0.113208	6.644639	14.4472	6	47	GG		KEEP	---	---	---	---	capture			Silent	SNP	154488875	154488875	15294	1	G	T	T	39	39	SMG5	T	3	3
APOA1BP	128240	broad.mit.edu	36	1	154830327	154830327	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154830327G>A	uc001fph.1	+	c.694G>A	c.(694-696)GGG>AGG	p.G232R	APOA1BP_uc001fpg.1_3'UTR|APOA1BP_uc001fpi.1_Missense_Mutation_p.R213K|APOA1BP_uc001fpj.1_Missense_Mutation_p.G149R|APOA1BP_uc001fpk.1_Missense_Mutation_p.G129R	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein precursor	232	YjeF N-terminal.					extracellular region	protein binding				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.285714	6.788368	7.36992	4	10	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154830327	154830327	792	1	G	A	A	35	35	APOA1BP	A	2	2
FCRL2	79368	broad.mit.edu	36	1	156003839	156003839	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156003839G>A	uc001fre.1	-	c.968C>T	c.(967-969)GCC>GTC	p.A323V	FCRL2_uc001frd.1_Missense_Mutation_p.A70V|FCRL2_uc009wsp.1_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 isoform b	323	Ig-like C2-type 4.|Extracellular (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)											0.32967	79.80915	82.154839	30	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	156003839	156003839	6032	1	G	A	A	42	42	FCRL2	A	2	2
USF1	7391	broad.mit.edu	36	1	159276422	159276422	+	Missense_Mutation	SNP	A	G	G			TCGA-19-1388-01	TCGA-19-1388-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159276422A>G	uc001fxi.1	-	c.845T>C	c.(844-846)GTG>GCG	p.V282A	F11R_uc001fxf.2_5'Flank|TSTD1_uc009wtw.1_5'Flank|TSTD1_uc009wtv.1_5'Flank|USF1_uc001fxj.1_Missense_Mutation_p.V223A	NM_007122	NP_996888	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	282	Leucine-zipper.				cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|negative regulation of fibrinolysis|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)											0.15493	7.695625	15.791103	11	60	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	159276422	159276422	17594	1	A	G	G	6	6	USF1	G	4	4
NR1I3	9970	broad.mit.edu	36	1	159467538	159467538	+	Missense_Mutation	SNP	G	T	T			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159467538G>T	uc001fzp.1	-	c.816C>A	c.(814-816)TTC>TTA	p.F272L	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001gac.1_Missense_Mutation_p.F243L|NR1I3_uc001fzg.1_Missense_Mutation_p.F239L|NR1I3_uc001fzj.1_Missense_Mutation_p.F239L|NR1I3_uc001fzi.1_Missense_Mutation_p.F239L|NR1I3_uc001fzl.1_Intron|NR1I3_uc001fzk.1_Intron|NR1I3_uc001fzm.1_Missense_Mutation_p.F193L|NR1I3_uc001fzn.1_Intron|NR1I3_uc009wug.1_Missense_Mutation_p.F101L|NR1I3_uc001fzf.1_Missense_Mutation_p.F268L|NR1I3_uc001fzo.1_Missense_Mutation_p.F101L|NR1I3_uc001fzt.1_Intron|NR1I3_uc001fzs.1_Intron|NR1I3_uc001fzr.1_Intron|NR1I3_uc001fzq.1_Intron|NR1I3_uc001fzv.1_Intron|NR1I3_uc001fzu.1_Intron|NR1I3_uc001fzx.1_Missense_Mutation_p.F272L|NR1I3_uc001fzy.1_Missense_Mutation_p.F268L|NR1I3_uc001fzw.1_Missense_Mutation_p.F272L|NR1I3_uc001fzz.1_Intron|NR1I3_uc001gab.1_Intron|NR1I3_uc001fzh.1_Missense_Mutation_p.F239L|NR1I3_uc001gaa.1_Intron	NM_001077482	NP_001070950	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 1	272					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)	1	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)											0.170213	11.77345	16.612013	8	39	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	159467538	159467538	11026	1	G	T	T	33	33	NR1I3	T	3	3
PRG4	10216	broad.mit.edu	36	1	184546916	184546916	+	Missense_Mutation	SNP	C	G	G			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184546916C>G	uc001gru.2	+	c.3627C>G	c.(3625-3627)TTC>TTG	p.F1209L	PRG4_uc001grt.2_Missense_Mutation_p.F1168L|PRG4_uc009wyl.1_Missense_Mutation_p.F1116L|PRG4_uc009wym.1_Missense_Mutation_p.F1075L	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	1209	Hemopexin-like 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity				0														0.28	11.805691	12.901051	7	18	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	184546916	184546916	12924	1	C	G	G	32	32	PRG4	G	3	3
CTSE	1510	broad.mit.edu	36	1	204484938	204484938	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:204484938C>T	uc001hdu.1	+	c.73C>T	c.(73-75)CCC>TCC	p.P25S	CTSE_uc001hdv.1_Missense_Mutation_p.P25S	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	25					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.0754)											0.263158	8.161035	9.130222	5	14	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	204484938	204484938	4192	1	C	T	T	26	26	CTSE	T	2	2
H3F3A	3020	broad.mit.edu	36	1	224318778	224318778	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:224318778G>A	uc001hpw.1	+	c.103G>A	c.(103-105)GGG>AGG	p.G35R		NM_005324	NP_005315	P84243	H33_HUMAN	H3 histone, family 3B	35					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding				0	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)								OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.357143	43.321368	44.072691	15	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	224318778	224318778	7215	1	G	A	A	35	35	H3F3A	A	2	2
B4GALT2	8704	broad.mit.edu	36	1	44223804	44223804	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:44223804C>T	uc001clg.1	+	c.892C>T	c.(892-894)CGC>TGC	p.R298C	B4GALT2_uc001clh.1_Missense_Mutation_p.R232C|B4GALT2_uc001cli.1_Missense_Mutation_p.R298C	NM_003780	NP_003771	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	298	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)									0.658915	256.829193	259.6899	85	44	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44223804	44223804	1292	1	C	T	T	19	19	B4GALT2	T	1	1
PODN	127435	broad.mit.edu	36	1	53316696	53316696	+	Missense_Mutation	SNP	G	T	T			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:53316696G>T	uc001cuv.1	+	c.1070G>T	c.(1069-1071)CGC>CTC	p.R357L	PODN_uc001cuw.1_Missense_Mutation_p.R338L	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	309	LRR 9.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2														0.25	6.790234	7.702155	4	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53316696	53316696	12606	1	G	T	T	38	38	PODN	T	3	3
CDC7	8317	broad.mit.edu	36	1	91752120	91752120	+	Missense_Mutation	SNP	C	G	G			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:91752120C>G	uc001doe.1	+	c.850C>G	c.(850-852)CGC>GGC	p.R284G	CDC7_uc001dof.1_Missense_Mutation_p.R284G|CDC7_uc009wdc.1_Missense_Mutation_p.R284G|CDC7_uc009wdd.1_5'Flank	NM_003503	NP_003494	O00311	CDC7_HUMAN	cell division cycle 7	284	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|protein phosphorylation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)					p.R284C(SNU1040-Tumor)	154				0.769231	100.356643	102.945633	30	9	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91752120	91752120	3213	1	C	G	G	27	27	CDC7	G	3	3
ITCH	83737	broad.mit.edu	36	20	32489991	32489991	+	Silent	SNP	T	C	C			TCGA-19-1388-01	TCGA-19-1388-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:32489991T>C	uc010geu.1	+	c.696T>C	c.(694-696)AAT>AAC	p.N232N	ITCH_uc002xak.2_Silent_p.N191N	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	232					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity				0														0.09816	42.037503	147.252226	64	588	TT		KEEP	---	---	---	---	capture			Silent	SNP	32489991	32489991	8172	20	T	C	C	49	49	ITCH	C	4	4
PCMTD2	55251	broad.mit.edu	36	20	62369720	62369720	+	Nonsense_Mutation	SNP	G	T	T			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:62369720G>T	uc002yil.2	+	c.619G>T	c.(619-621)GAA>TAA	p.E207*	PCMTD2_uc002yim.2_Intron	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	207						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)													0.357143	17.008086	17.5251	10	18	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	62369720	62369720	12007	20	G	T	T	41	41	PCMTD2	T	5	3
RANBP2	5903	broad.mit.edu	36	2	108718507	108718507	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:108718507G>A	uc002tem.2	+	c.493G>A	c.(493-495)GTC>ATC	p.V165I		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	165					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(14)	soft_tissue(14)|pancreas(1)	15														0.143939	56.93711	89.137544	38	226	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108718507	108718507	13488	2	G	A	A	40	40	RANBP2	A	1	1
WDR75	84128	broad.mit.edu	36	2	190040513	190040513	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:190040513G>A	uc002uql.1	+	c.1522G>A	c.(1522-1524)GAA>AAA	p.E508K	WDR75_uc002uqm.1_Missense_Mutation_p.E444K|WDR75_uc002uqn.1_Missense_Mutation_p.E286K|WDR75_uc002uqo.1_Missense_Mutation_p.E286K	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	508	WD 8.					nucleolus				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)											0.097436	14.494803	46.135367	19	176	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	190040513	190040513	17898	2	G	A	A	37	37	WDR75	A	1	1
FAM126B	285172	broad.mit.edu	36	2	201590121	201590121	+	Nonsense_Mutation	SNP	G	T	T			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:201590121G>T	uc002uwt.1	-	c.171C>A	c.(169-171)TGC>TGA	p.C57*	FAM126B_uc002uwu.1_5'UTR|FAM126B_uc002uwv.1_Nonsense_Mutation_p.C57*|FAM126B_uc002uww.1_Nonsense_Mutation_p.C57*	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	57						intracellular				ovary(1)	1														0.5	11.370886	11.370886	5	5	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	201590121	201590121	5627	2	G	T	T	42	42	FAM126B	T	5	3
ECEL1	9427	broad.mit.edu	36	2	233057754	233057754	+	Splice_Site_SNP	SNP	C	T	T			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233057754C>T	uc002vsv.2	-	c.e5_splice_site			ECEL1_uc010fya.1_Splice_Site_SNP|ECEL1_uc010fyb.1_Splice_Site_SNP	NM_004826	NP_004817			endothelin converting enzyme-like 1						neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)										0.289474	27.40868	28.919178	11	27	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	233057754	233057754	5078	2	C	T	T	19	19	ECEL1	T	5	1
TRPM8	79054	broad.mit.edu	36	2	234523485	234523485	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234523485G>A	uc002vvh.1	+	c.1096G>A	c.(1096-1098)GTG>ATG	p.V366M	TRPM8_uc010fyj.1_Missense_Mutation_p.V54M	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	366	Cytoplasmic (Potential).					integral to membrane					0		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)					505				0.352941	12.042588	12.367618	6	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	234523485	234523485	17143	2	G	A	A	44	44	TRPM8	A	2	2
RHOQ	23433	broad.mit.edu	36	2	46624418	46624418	+	Missense_Mutation	SNP	A	C	C			TCGA-19-1388-01	TCGA-19-1388-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:46624418A>C	uc002rva.1	+	c.164A>C	c.(163-165)AAG>ACG	p.K55T	ATP6V1E2_uc002ruz.1_5'Flank	NM_012249	NP_036381	P17081	RHOQ_HUMAN	ras-like protein TC10	55					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of glucose import|regulation of actin cytoskeleton organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)											0.333333	9.787513	10.086989	4	8	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46624418	46624418	13817	2	A	C	C	3	3	RHOQ	C	4	4
CEP68	23177	broad.mit.edu	36	2	65153125	65153125	+	Missense_Mutation	SNP	C	A	A			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:65153125C>A	uc002sdl.2	+	c.1391C>A	c.(1390-1392)ACC>AAC	p.T464N	CEP68_uc002sdj.2_Missense_Mutation_p.T464N|CEP68_uc002sdk.2_Missense_Mutation_p.T464N	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	464					centrosome organization	centrosome					0														0.28125	13.862727	15.241479	9	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65153125	65153125	3391	2	C	A	A	18	18	CEP68	A	3	3
CLDN16	10686	broad.mit.edu	36	3	191588875	191588875	+	Silent	SNP	T	A	A			TCGA-19-1388-01	TCGA-19-1388-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:191588875T>A	uc003fsi.1	+	c.273T>A	c.(271-273)ATT>ATA	p.I91I	CLDN16_uc010hze.1_Silent_p.I91I	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	91	Helical; (Potential).				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)										0.122449	41.985671	76.171038	30	215	TT		KEEP	---	---	---	---	capture			Silent	SNP	191588875	191588875	3613	3	T	A	A	63	63	CLDN16	A	4	4
LETM1	3954	broad.mit.edu	36	4	1797182	1797182	+	Missense_Mutation	SNP	G	T	T			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1797182G>T	uc003gdv.1	-	c.1107C>A	c.(1105-1107)AGC>AGA	p.S369R		NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	369	Mitochondrial matrix (Potential).|LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)											0.175	6.59556	10.599225	7	33	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1797182	1797182	9058	4	G	T	T	42	42	LETM1	T	3	3
SNX25	83891	broad.mit.edu	36	4	186509685	186509685	+	Missense_Mutation	SNP	G	T	T			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:186509685G>T	uc003ixh.1	+	c.1902G>T	c.(1900-1902)CAG>CAT	p.Q634H	SNX25_uc010ish.1_Intron|SNX25_uc003ixi.2_Missense_Mutation_p.Q138H	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	634					cell communication|protein transport		phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)										0.263158	7.659541	8.630095	5	14	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	186509685	186509685	15396	4	G	T	T	35	35	SNX25	T	3	3
TMPRSS11A	339967	broad.mit.edu	36	4	68467526	68467526	+	Missense_Mutation	SNP	A	G	G			TCGA-19-1388-01	TCGA-19-1388-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:68467526A>G	uc003hdr.1	-	c.721T>C	c.(721-723)TGG>CGG	p.W241R	LOC550112_uc003hdl.2_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.W238R	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A isoform 1	241	Peptidase S1.|Extracellular (Potential).				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity				0						NSCLC(26;2 894 10941 14480 22546)								0.135135	9.152224	13.923248	5	32	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68467526	68467526	16779	4	A	G	G	8	8	TMPRSS11A	G	4	4
PDLIM4	8572	broad.mit.edu	36	5	131635751	131635751	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:131635751C>T	uc003kwo.1	+	c.1247C>T	c.(1246-1248)GCG>GTG	p.A416V	PDLIM4_uc003kwn.1_Missense_Mutation_p.A308V|PDLIM4_uc003kwp.1_3'UTR	NM_003687	NP_003678	P50479	PDLI4_HUMAN	PDZ and LIM domain 4 isoform 1	308	LIM zinc-binding.						protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)											0.35	17.025687	17.419515	7	13	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131635751	131635751	12103	5	C	T	T	27	27	PDLIM4	T	1	1
PCDHB13	56123	broad.mit.edu	36	5	140575555	140575555	+	Missense_Mutation	SNP	C	A	A			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140575555C>A	uc003lja.1	+	c.1676C>A	c.(1675-1677)CCC>CAC	p.P559H		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	559	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.25	8.646805	10.00914	6	18	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140575555	140575555	11958	5	C	A	A	22	22	PCDHB13	A	3	3
PPARGC1B	133522	broad.mit.edu	36	5	149193496	149193496	+	Missense_Mutation	SNP	T	G	G			TCGA-19-1388-01	TCGA-19-1388-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:149193496T>G	uc003lrc.1	+	c.1667T>G	c.(1666-1668)ATG>AGG	p.M556R	PPARGC1B_uc003lrb.1_Missense_Mutation_p.M556R|PPARGC1B_uc003lrd.1_Missense_Mutation_p.M517R|PPARGC1B_uc003lre.1_Missense_Mutation_p.M535R|PPARGC1B_uc003lrf.1_Missense_Mutation_p.M535R	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	556					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription mediator activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)											0.375	6.421005	6.531333	3	5	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	149193496	149193496	12731	5	T	G	G	51	51	PPARGC1B	G	4	4
STK10	6793	broad.mit.edu	36	5	171477154	171477154	+	Missense_Mutation	SNP	C	A	A			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:171477154C>A	uc003mbo.1	-	c.456G>T	c.(454-456)AGG>AGT	p.R152S		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	152	Protein kinase.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(3)|testis(1)|lung(1)|pancreas(1)	6	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)							570				0.143154	88.39807	147.567587	69	413	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	171477154	171477154	15806	5	C	A	A	30	30	STK10	A	3	3
PGM3	5238	broad.mit.edu	36	6	83957342	83957342	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:83957342G>A	uc003pjv.1	-	c.109C>T	c.(109-111)CAT>TAT	p.H37Y	PGM3_uc003pjw.1_Intron|RWDD2A_uc003pjx.2_5'Flank	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	37					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)										0.308468	403.75517	419.996113	153	343	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	83957342	83957342	12223	6	G	A	A	45	45	PGM3	A	2	2
CNTNAP2	26047	broad.mit.edu	36	7	146890167	146890167	+	Missense_Mutation	SNP	C	G	G			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:146890167C>G	uc003weu.1	+	c.1782C>G	c.(1780-1782)ATC>ATG	p.I594M		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	594	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)											0.100917	11.353209	28.671613	11	98	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	146890167	146890167	3785	7	C	G	G	32	32	CNTNAP2	G	3	3
DBNL	28988	broad.mit.edu	36	7	44058014	44058014	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44058014G>A	uc003tjq.2	+	c.200G>A	c.(199-201)TGC>TAC	p.C67Y	DBNL_uc003tjn.2_Intron|DBNL_uc003tjo.2_Missense_Mutation_p.C67Y|DBNL_uc003tjp.2_Missense_Mutation_p.C67Y|DBNL_uc003tjr.2_Intron	NM_001122956	NP_001116428	Q9UJU6	DBNL_HUMAN	drebrin-like isoform c	67	ADF-H.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding				0						NSCLC(68;573 1327 18604 34760 37992)								0.327759	261.175535	269.028446	98	201	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44058014	44058014	4426	7	G	A	A	46	46	DBNL	A	2	2
PKD1L1	168507	broad.mit.edu	36	7	47843126	47843126	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:47843126G>A	uc003tny.1	-	c.5861C>T	c.(5860-5862)ACG>ATG	p.T1954M		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1954	Cytoplasmic (Potential).				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.145161	13.151747	20.652875	9	53	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47843126	47843126	12388	7	G	A	A	40	40	PKD1L1	A	1	1
EGFR	1956	broad.mit.edu	36	7	55200568	55200568	+	Missense_Mutation	SNP	G	C	C			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55200568G>C	uc003tqk.1	+	c.1824G>C	c.(1822-1824)TGG>TGC	p.W608C	EGFR_uc003tqi.1_Missense_Mutation_p.W608C|EGFR_uc003tqj.1_Missense_Mutation_p.W608C|EGFR_uc010kzg.1_Missense_Mutation_p.W563C|EGFR_uc003tqn.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	608	Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			8		608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.26148	515.155339	555.519034	205	579	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55200568	55200568	5156	7	G	C	C	41	41	EGFR	C	3	3
SLC30A8	169026	broad.mit.edu	36	8	118234468	118234468	+	Missense_Mutation	SNP	A	C	C			TCGA-19-1388-01	TCGA-19-1388-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:118234468A>C	uc003yoh.1	+	c.376A>C	c.(376-378)AAG>CAG	p.K126Q	SLC30A8_uc010mcz.1_Missense_Mutation_p.K77Q|SLC30A8_uc003yog.1_Missense_Mutation_p.K77Q|SLC30A8_uc003yoi.1_Missense_Mutation_p.K77Q	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	126	Cytoplasmic (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion binding|zinc ion transmembrane transporter activity			ovary(2)|skin(1)	3	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			Ovarian(162;1202 1922 6011 16223 52092)								0.243478	71.954952	78.845846	28	87	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118234468	118234468	15058	8	A	C	C	9	9	SLC30A8	C	4	4
C8orf41	80185	broad.mit.edu	36	8	33489558	33489558	+	Missense_Mutation	SNP	C	A	A			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:33489558C>A	uc003xjl.2	-	c.116G>T	c.(115-117)CGC>CTC	p.R39L	C8orf41_uc003xjk.2_Missense_Mutation_p.R39L|C8orf41_uc010lvv.1_Missense_Mutation_p.R39L|C8orf41_uc003xjm.2_Missense_Mutation_p.R39L|C8orf41_uc003xjn.1_Missense_Mutation_p.R39L	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	39							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)										0.432099	100.828541	101.149353	35	46	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33489558	33489558	2537	8	C	A	A	27	27	C8orf41	A	3	3
HAUS6	54801	broad.mit.edu	36	9	19092568	19092568	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:19092568C>T	uc003znk.1	-	c.82G>A	c.(82-84)GCA>ACA	p.A28T		NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	family with sequence similarity 29, member A	28					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2														0.454545	10.26577	10.28637	5	6	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19092568	19092568	7252	9	C	T	T	26	26	HAUS6	T	2	2
SIT1	27240	broad.mit.edu	36	9	35640584	35640584	+	Missense_Mutation	SNP	C	G	G			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35640584C>G	uc003zxe.1	-	c.151G>C	c.(151-153)GTG>CTG	p.V51L	SIT1_uc003zxf.1_Intron	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	SHP2-interacting transmembrane adaptor protein	51	Helical; (Potential).				regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)											0.212121	9.101769	11.640557	7	26	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35640584	35640584	14839	9	C	G	G	17	17	SIT1	G	3	3
ZDHHC9	51114	broad.mit.edu	36	X	128774390	128774390	+	Missense_Mutation	SNP	C	G	G			TCGA-19-1388-01	TCGA-19-1388-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:128774390C>G	uc004euv.1	-	c.762G>C	c.(760-762)CAG>CAC	p.Q254H	ZDHHC9_uc004euw.1_Missense_Mutation_p.Q254H	NM_001008222	NP_057116	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC domain containing 9	254	Cytoplasmic (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1														0.25	6.888758	7.801378	4	12	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128774390	128774390	18210	23	C	G	G	32	32	ZDHHC9	G	3	3
BCOR	54880	broad.mit.edu	36	X	39815231	39815232	+	Missense_Mutation	DNP	GT	CC	CC			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:39815231_39815232GT>CC	uc004den.2	-	c.3176_3177AC>GG	c.(3175-3177)GAC>GGG	p.D1059G	BCOR_uc004dep.2_Missense_Mutation_p.D1059G|BCOR_uc004deo.2_Missense_Mutation_p.D1041G|BCOR_uc004dem.2_Missense_Mutation_p.D1059G	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1059					chromatin modification|heart development|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|odontogenesis|palate development|protein ubiquitination|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|promoter binding|transcription corepressor activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4														0.25	13.074349	14.902602	8	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	DNP	39815231	39815232	1407	23	GT	CC	CC	48	48	BCOR	CC	3	3
BCOR	54880	broad.mit.edu	36	X	39816793	39816793	+	Missense_Mutation	SNP	G	T	T			TCGA-19-1388-01	TCGA-19-1388-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:39816793G>T	uc004den.2	-	c.2750C>A	c.(2749-2751)ACC>AAC	p.T917N	BCOR_uc004dep.2_Missense_Mutation_p.T917N|BCOR_uc004deo.2_Missense_Mutation_p.T917N|BCOR_uc004dem.2_Missense_Mutation_p.T917N|BCOR_uc004deq.2_Missense_Mutation_p.T917N	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	917					chromatin modification|heart development|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|odontogenesis|palate development|protein ubiquitination|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|promoter binding|transcription corepressor activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4														0.454545	10.629512	10.640138	5	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39816793	39816793	1407	23	G	T	T	44	44	BCOR	T	3	3
CRTAC1	55118	broad.mit.edu	36	10	99633990	99633991	+	Frame_Shift_Ins	INS	-	G	G			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:99633990_99633991insG	uc001kou.1	-	c.1594_1595insC	c.(1594-1596)CGGfs	p.R532fs	CRTAC1_uc001kov.2_Frame_Shift_Ins_p.R521fs|CRTAC1_uc001kot.1_Frame_Shift_Ins_p.R322fs	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	532						proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)										0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	99633990	99633991	4035	10	-	G	G	23	23	CRTAC1	G	5	5
EXPH5	23086	broad.mit.edu	36	11	107887020	107887020	+	Frame_Shift_Del	DEL	C	-	-			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:107887020_107887020delC	uc001pkk.1	-	c.4424_4424delG	c.(4423-4425)GGCfs	p.G1475fs		NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5 isoform a	1475					intracellular protein transport		Rab GTPase binding			ovary(2)	2		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)										0.32			11	23				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	107887020	107887020	5516	11	C	-	-	26	26	EXPH5	-	5	5
VWCE	220001	broad.mit.edu	36	11	60806934	60806941	+	Frame_Shift_Del	DEL	CCCTAGGC	-	-			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60806934_60806941delCCCTAGGC	uc001nra.1	-	c.554_561delGCCTAGGG	c.(553-561)TGCCTAGGGfs	p.C185fs	VWCE_uc001nrb.1_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	185_187	EGF-like 3; calcium-binding (Potential).					extracellular region	calcium ion binding			ovary(1)	1														0.30			40	93				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	60806934	60806941	17816	11	CCCTAGGC	-	-	30	30	VWCE	-	5	5
RIPK3	11035	broad.mit.edu	36	14	23878221	23878228	+	Frame_Shift_Del	DEL	CCCGACAA	-	-			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23878221_23878228delCCCGACAA	uc001wpb.1	-	c.304_311delTTGTCGGG	c.(304-312)TTGTCGGGGfs	p.L102fs	RIPK3_uc001wpa.1_5'Flank|RIPK3_uc010alq.1_Non-coding_Transcript	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	102_104	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|protein phosphorylation	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4				GBM - Glioblastoma multiforme(265;0.0181)		Pancreas(58;918 1191 4668 13304 15331)			p.S103L(HCT116-Tumor)|p.S103L(SW837-Tumor)	120				0.73			85	32				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	23878221	23878228	13859	14	CCCGACAA	-	-	22	22	RIPK3	-	5	5
SYNE2	23224	broad.mit.edu	36	14	63558435	63558437	+	In_Frame_Del	DEL	TGT	-	-			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:63558435_63558437delTGT	uc001xgl.1	+	c.5460_5462delTGT	c.(5458-5463)AGTGTC>AGC	p.V1821del	SYNE2_uc001xgm.1_In_Frame_Del_p.V1821del	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1821	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)										0.35			45	85				---	---	---	---	capture_indel			In_Frame_Del	DEL	63558435	63558437	15967	14	TGT	-	-	59	59	SYNE2	-	5	5
CYFIP1	23191	broad.mit.edu	36	15	20481330	20481335	+	In_Frame_Del	DEL	ACAAGA	-	-			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:20481330_20481335delACAAGA	uc001yus.1	+	c.563_568delACAAGA	c.(562-570)TACAAGAGG>TGG	p.188_190YKR>W	CYFIP1_uc001yut.1_In_Frame_Del_p.188_190YKR>W|CYFIP1_uc010aya.1_In_Frame_Del_p.216_218YKR>W	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	188_190				R->D: Reduced interaction with RAC1.	axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)	8		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)						1870				0.71			22	9				---	---	---	---	capture_indel			In_Frame_Del	DEL	20481330	20481335	4302	15	ACAAGA	-	-	14	14	CYFIP1	-	5	5
C15orf2	23742	broad.mit.edu	36	15	22475339	22475351	+	Frame_Shift_Del	DEL	GTATTTGGATATA	-	-			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:22475339_22475351delGTATTTGGATATA	uc001ywo.1	+	c.3232_3244delGTATTTGGATATA	c.(3232-3246)GTATTTGGATATACTfs	p.V1078fs		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	1078_1082					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)						443				0.38			89	144				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	22475339	22475351	1834	15	GTATTTGGATATA	-	-	48	48	C15orf2	-	5	5
TP53	7157	broad.mit.edu	36	17	7519200	7519200	+	Frame_Shift_Del	DEL	G	-	-			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7519200_7519200delG	uc002gim.2	-	c.455_455delC	c.(454-456)CCGfs	p.P152fs	TP53_uc002gig.1_Frame_Shift_Del_p.P152fs|TP53_uc002gih.1_Frame_Shift_Del_p.P152fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P20fs|TP53_uc010cng.1_Frame_Shift_Del_p.P20fs|TP53_uc002gii.1_Frame_Shift_Del_p.P20fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P152fs|TP53_uc010cni.1_Frame_Shift_Del_p.P152fs|TP53_uc002gij.2_Frame_Shift_Del_p.P152fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Del_p.P59fs|TP53_uc002gio.2_Frame_Shift_Del_p.P20fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	152	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of 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.P152L(56)|p.0?(6)|p.P152fs*14(4)|p.P152Q(4)|p.P152fs*18(4)|p.P153fs*28(4)|p.T150fs*16(3)|p.P152R(3)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.T150_P153delTPPP(1)|p.P153fs*16(1)|p.P152fs*28(1)|p.Q144fs*16(1)|p.P151_V173del23(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(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.P152fs(OAW28-Tumor)|p.P152L(SR786-Tumor)|p.P152fs(MORCPR-Tumor)|p.P152fs(KP3-Tumor)|p.P152fs(RH41-Tumor)|p.P152fs(HGC27-Tumor)|p.P152fs(OVK18-Tumor)|p.P152fs(HMC18-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.31			14	31				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	7519200	7519200	16923	17	G	-	-	39	39	TP53	-	5	5
TP53	7157	broad.mit.edu	36	17	7520089	7520089	+	Frame_Shift_Del	DEL	C	-	-			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7520089_7520089delC	uc002gim.2	-	c.323_323delG	c.(322-324)GGTfs	p.G108fs	TP53_uc002gig.1_Frame_Shift_Del_p.G108fs|TP53_uc002gih.1_Frame_Shift_Del_p.G108fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.G108fs|TP53_uc010cni.1_Frame_Shift_Del_p.G108fs|TP53_uc002gij.2_Frame_Shift_Del_p.G108fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010cnk.1_Frame_Shift_Del_p.G123fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	108	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		G -> D (in a sporadic cancer; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of 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.0?(6)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.G108del(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.?_?ins?(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.G108D(1)|p.Y107fs*38(1)|p.Y103_L111>L(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		690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.47			69	78				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	7520089	7520089	16923	17	C	-	-	18	18	TP53	-	5	5
WRAP53	55135	broad.mit.edu	36	17	7533712	7533713	+	Frame_Shift_Ins	INS	-	T	T			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7533712_7533713insT	uc002gip.1	+	c.610_611insT	c.(610-612)CATfs	p.H204fs	TP53_uc010cnh.1_5'Flank|TP53_uc010cni.1_5'Flank|TP53_uc002gim.2_5'Flank|TP53_uc002gij.2_5'Flank|TP53_uc002gin.2_5'Flank|TP53_uc002gio.2_5'Flank|TP53_uc010cnk.1_5'Flank|WRAP53_uc002giq.1_Non-coding_Transcript|WRAP53_uc002gir.1_Frame_Shift_Ins_p.H204fs|WRAP53_uc010cnl.1_Frame_Shift_Ins_p.H171fs	NM_018081	NP_060551	Q9BUR4	WAP53_HUMAN	WD repeat domain 79	204	WD 1.				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding				0														0.32			23	48				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	7533712	7533713	17974	17	-	T	T	21	21	WRAP53	T	5	5
RSPH6A	81492	broad.mit.edu	36	19	50999607	50999608	+	Frame_Shift_Ins	INS	-	T	T			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50999607_50999608insT	uc002pdm.1	-	c.1395_1396insA	c.(1393-1398)ACGCCAfs	p.T465fs	RSPH6A_uc002pdl.1_Frame_Shift_Ins_p.T201fs	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	465_466						intracellular				ovary(1)|central_nervous_system(1)	2														0.30			28	64				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	50999607	50999608	14187	19	-	T	T	42	42	RSPH6A	T	5	5
CCDC114	93233	broad.mit.edu	36	19	53493409	53493410	+	Splice_Site_Ins	INS	-	GG	GG			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53493409_53493410insGG	uc002pir.1	-	c.e11_splice_site			CCDC114_uc002pip.1_Splice_Site_Ins|CCDC114_uc002piq.1_Splice_Site_Ins|CCDC114_uc002pio.2_Splice_Site_Ins|CCDC114_uc002pis.1_Splice_Site_Ins|CCDC114_uc002pit.1_Splice_Site_Ins	NM_144577	NP_653178			coiled-coil domain containing 114 isoform 2											ovary(1)	1		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)										0.37			22	38				---	---	---	---	capture_indel			Splice_Site_Ins	INS	53493409	53493410	2871	19	-	GG	GG	50	50	CCDC114	GG	5	5
URB2	9816	broad.mit.edu	36	1	227850015	227850015	+	Frame_Shift_Del	DEL	A	-	-			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:227850015_227850015delA	uc001hts.1	+	c.4042_4042delA	c.(4042-4044)AGCfs	p.S1348fs	URB2_uc009xfd.1_Frame_Shift_Del_p.S1348fs	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	1348						nucleolus				central_nervous_system(2)|ovary(1)	3										340				0.36			5	9				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	227850015	227850015	17587	1	A	-	-	7	7	URB2	-	5	5
GTPBP5	26164	broad.mit.edu	36	20	60209310	60209311	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60209310_60209311delCT	uc002yce.2	+	c.1003_1004delCT	c.(1003-1005)CTGfs	p.L335fs	GTPBP5_uc010gka.1_Frame_Shift_Del_p.L107fs	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	335	G.|Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)											0.70			7	3				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	60209310	60209311	7163	20	CT	-	-	24	24	GTPBP5	-	5	5
SULT4A1	25830	broad.mit.edu	36	22	42589564	42589574	+	Frame_Shift_Del	DEL	GTGCTGGGGGT	-	-			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:42589564_42589574delGTGCTGGGGGT	uc003bee.1	-	c.22_32delACCCCCAGCAC	c.(22-33)ACCCCCAGCACCfs	p.T8fs	SULT4A1_uc003bef.1_Non-coding_Transcript	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	8_11					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity				0		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)										0.54			7	6				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	42589564	42589574	15903	22	GTGCTGGGGGT	-	-	44	44	SULT4A1	-	5	5
ANKMY1	51281	broad.mit.edu	36	2	241114441	241114442	+	Frame_Shift_Ins	INS	-	G	G			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241114441_241114442insG	uc010fzd.1	-	c.1047_1048insC	c.(1045-1050)TCCATGfs	p.S349fs	ANKMY1_uc002vyz.1_Frame_Shift_Ins_p.S260fs|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	260_261							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)										0.44			97	124				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	241114441	241114442	637	2	-	G	G	51	51	ANKMY1	G	5	5
ASTL	431705	broad.mit.edu	36	2	96162181	96162182	+	Frame_Shift_Ins	INS	-	A	A			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:96162181_96162182insA	uc002svj.1	-	c.461_462insT	c.(460-462)TTCfs	p.F154fs		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase	154					proteolysis		metalloendopeptidase activity|zinc ion binding				0														0.87			134	20				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	96162181	96162182	1082	2	-	A	A	33	33	ASTL	A	5	5
SEC61A1	29927	broad.mit.edu	36	3	129268635	129268642	+	Frame_Shift_Del	DEL	CAGCTCGC	-	-			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:129268635_129268642delCAGCTCGC	uc003ekb.1	+	c.926_933delCAGCTCGC	c.(925-933)TCAGCTCGCfs	p.S309fs	SEC61A1_uc003ekc.1_Frame_Shift_Del_p.S256fs|SEC61A1_uc003ekd.1_Frame_Shift_Del_p.S189fs|RUVBL1_uc003eke.1_Intron|RUVBL1_uc003ekf.1_Intron|SEC61A1_uc003ekg.1_Frame_Shift_Del_p.S3fs	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	309_311	Lumenal (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1														0.43			117	152				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	129268635	129268642	14486	3	CAGCTCGC	-	-	29	29	SEC61A1	-	5	5
GNAI2	2771	broad.mit.edu	36	3	50270062	50270063	+	Frame_Shift_Ins	INS	-	A	A			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:50270062_50270063insA	uc003cyq.1	+	c.1004_1005insA	c.(1003-1005)TTCfs	p.F335fs	GNAI2_uc003cyo.1_Frame_Shift_Ins_p.F319fs|GNAI2_uc003cyp.1_Frame_Shift_Ins_p.F319fs|GNAI2_uc010hlg.1_Frame_Shift_Ins_p.F254fs|GNAI2_uc003cyr.1_Frame_Shift_Ins_p.F254fs	NM_002070	NP_002061	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein),	335					adenosine receptor signaling pathway|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)										0.41			33	47				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	50270062	50270063	6774	3	-	A	A	62	62	GNAI2	A	5	5
ALAS1	211	broad.mit.edu	36	3	52221423	52221423	+	Frame_Shift_Del	DEL	T	-	-			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52221423_52221423delT	uc003dcy.1	+	c.1709_1709delT	c.(1708-1710)CTAfs	p.L570fs	ALAS1_uc003dcz.1_Frame_Shift_Del_p.L570fs	NM_000688	NP_954635	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1	570					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)									0.64			67	38				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	52221423	52221423	487	3	T	-	-	53	53	ALAS1	-	5	5
NFKB1	4790	broad.mit.edu	36	4	103753664	103753672	+	In_Frame_Del	DEL	CTGAGACAA	-	-			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:103753664_103753672delCTGAGACAA	uc003hwd.1	+	c.2629_2637delCTGAGACAA	c.(2629-2637)CTGAGACAAdel	p.LRQ877del	NFKB1_uc003hwe.1_In_Frame_Del_p.LRQ876del|NFKB1_uc003hwf.1_In_Frame_Del_p.LRQ696del	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1	876_878	Death.|Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cellular protein metabolic process|negative regulation of cholesterol transport|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of vitamin D biosynthetic process|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of lipid storage|positive regulation of macrophage derived foam cell differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	promoter binding|protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(2)|breast(2)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)					318				0.37			72	125				---	---	---	---	capture_indel			In_Frame_Del	DEL	103753664	103753672	10775	4	CTGAGACAA	-	-	24	24	NFKB1	-	5	5
TAP2	6891	broad.mit.edu	36	6	32913762	32913762	+	Frame_Shift_Del	DEL	G	-	-			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32913762_32913762delG	uc003ocd.1	-	c.227_227delC	c.(226-228)ACTfs	p.T76fs	TAP2_uc003ocb.1_Frame_Shift_Del_p.T76fs|TAP2_uc003occ.1_Frame_Shift_Del_p.T76fs	NM_000544	NP_000535	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	76	Helical; Name=2; (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0														0.47			16	18				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	32913762	32913762	16072	6	G	-	-	36	36	TAP2	-	5	5
ANK1	286	broad.mit.edu	36	8	41701128	41701129	+	Splice_Site_Ins	INS	-	C	C			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41701128_41701129insC	uc003xom.1	-	c.e7_splice_site			NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.1_Splice_Site_Ins|ANK1_uc003xoj.1_Splice_Site_Ins|ANK1_uc003xok.1_Splice_Site_Ins|ANK1_uc003xol.1_Splice_Site_Ins	NM_020475	NP_065208			ankyrin 1 isoform 4						axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)|breast(1)	8	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)											0.43			15	20				---	---	---	---	capture_indel			Splice_Site_Ins	INS	41701128	41701129	623	8	-	C	C	61	61	ANK1	C	5	5
PNPLA7	375775	broad.mit.edu	36	9	139519967	139519968	+	Frame_Shift_Del	DEL	CC	-	-			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139519967_139519968delCC	uc010ncj.1	-	c.1392_1393delGG	c.(1390-1395)ACGGATfs	p.T464fs	PNPLA7_uc004cnf.2_Frame_Shift_Del_p.T439fs	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	439_440				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).	lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity				0	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)										0.37			27	46				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	139519967	139519968	12597	9	CC	-	-	30	30	PNPLA7	-	5	5
KDM6A	7403	broad.mit.edu	36	X	44834912	44834912	+	Frame_Shift_Del	DEL	C	-	-			TCGA-19-1388-01	TCGA-19-1388-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:44834912_44834912delC	uc004dge.2	+	c.3737_3737delC	c.(3736-3738)GCCfs	p.A1246fs	KDM6A_uc004dgf.1_Frame_Shift_Del_p.A861fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1246	JmjC.				histone H3-K4 methylation|oxidation-reduction process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						Colon(129;1273 1667 15230 27352 52914)				372				0.43			6	8				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	44834912	44834912	8443	23	C	-	-	26	26	KDM6A	-	5	5
