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
YME1L1	10730	broad.mit.edu	36	10	27455652	27455652	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:27455652G>A	uc001iti.1	-	c.1099C>T	c.(1099-1101)CTT>TTT	p.L367F	YME1L1_uc001itj.1_Missense_Mutation_p.L310F|YME1L1_uc009xkv.1_Non-coding_Transcript	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	367					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1														0.666667	35.154885	35.523674	10	5	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27455652	27455652	18070	10	G	A	A	33	33	YME1L1	A	2	2
DRGX	644168	broad.mit.edu	36	10	50269250	50269250	+	Missense_Mutation	SNP	T	G	G			TCGA-12-3650-01	TCGA-12-3650-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:50269250T>G	uc001jhq.1	-	c.113A>C	c.(112-114)CAG>CCG	p.Q38P		NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	38					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.583333	24.026169	24.098774	7	5	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50269250	50269250	4947	10	T	G	G	55	55	DRGX	G	4	4
DNTT	1791	broad.mit.edu	36	10	98054353	98054353	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:98054353G>A	uc001kmf.1	+	c.109G>A	c.(109-111)GTC>ATC	p.V37I	DNTT_uc001kmg.1_Missense_Mutation_p.V37I	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	37	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)												0.666667	95.656203	96.760934	30	15	GG		KEEP	---	---	---	---	capture		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	Missense_Mutation	SNP	98054353	98054353	4863	10	G	A	A	40	40	DNTT	A	1	1
MUC5B	727897	broad.mit.edu	36	11	1230660	1230660	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1230660G>A	uc001ltb.2	+	c.15100G>A	c.(15100-15102)GTG>ATG	p.V5034M		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	mucin 5, subtype B, tracheobronchial	5031					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)												0.46875	45.52635	45.553063	15	17	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	Missense_Mutation	SNP	1230660	1230660	10373	11	G	A	A	40	40	MUC5B	A	1	1
PANX3	116337	broad.mit.edu	36	11	123992548	123992548	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:123992548C>T	uc001qah.1	+	c.493C>T	c.(493-495)CGG>TGG	p.R165W		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	165	Cytoplasmic (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)												0.454545	148.669165	148.846652	45	54	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	Missense_Mutation	SNP	123992548	123992548	11839	11	C	T	T	23	23	PANX3	T	1	1
MS4A1	931	broad.mit.edu	36	11	59988348	59988348	+	Silent	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59988348C>T	uc001npp.1	+	c.291C>T	c.(289-291)TCC>TCT	p.S97S	MS4A1_uc009ymy.1_3'UTR|MS4A1_uc001npq.1_Silent_p.S97S|MS4A1_uc009ymz.1_Silent_p.S97S|MS4A1_uc009yna.1_Silent_p.S97S	NM_152866	NP_690605	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member	97	Helical; (Potential).				B cell activation|immune response	integral to plasma membrane				ovary(3)	3					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)									0.361702	51.362145	52.153265	17	30	CC		KEEP	---	---	---	---	capture			Silent	SNP	59988348	59988348	10247	11	C	T	T	23	23	MS4A1	T	1	1
PC	5091	broad.mit.edu	36	11	66394459	66394459	+	Missense_Mutation	SNP	A	C	C			TCGA-12-3650-01	TCGA-12-3650-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66394459A>C	uc001ojn.1	-	c.793T>G	c.(793-795)TGC>GGC	p.C265G	PC_uc001ojo.1_Missense_Mutation_p.C265G|PC_uc001ojp.1_Missense_Mutation_p.C265G	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	265	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)			Biotin(DB00121)|Pyruvic acid(DB00119)									0.376623	82.754999	83.78402	29	48	AA		KEEP	---	---	---	---	capture		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Missense_Mutation	SNP	66394459	66394459	11917	11	A	C	C	7	7	PC	C	4	4
IQSEC3	440073	broad.mit.edu	36	12	118251	118251	+	Silent	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:118251C>T	uc001qhw.1	+	c.552C>T	c.(550-552)GAC>GAT	p.D184D	IQSEC3_uc001qhu.1_Silent_p.D184D|IQSEC3_uc001qht.1_Silent_p.D269D	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	487					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)	3	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)													0.481481	37.770521	37.778688	13	14	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	Silent	SNP	118251	118251	8122	12	C	T	T	19	19	IQSEC3	T	1	1
PKP2	5318	broad.mit.edu	36	12	32923155	32923155	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32923155C>T	uc001rlj.2	-	c.302G>A	c.(301-303)CGT>CAT	p.R101H	PKP2_uc001rlk.2_Missense_Mutation_p.R101H	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	101					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)													0.403226	145.923005	146.938799	50	74	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32923155	32923155	12410	12	C	T	T	19	19	PKP2	T	1	1
PDZRN4	29951	broad.mit.edu	36	12	40253727	40253727	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:40253727G>A	uc001rmq.2	+	c.2105G>A	c.(2104-2106)CGT>CAT	p.R702H	PDZRN4_uc009zjz.1_Missense_Mutation_p.R700H|PDZRN4_uc001rmr.1_Missense_Mutation_p.R587H	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4	960	Poly-Arg.						ubiquitin-protein ligase activity|zinc ion binding			lung(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	8	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)								467				0.408451	86.060209	86.580495	29	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40253727	40253727	12131	12	G	A	A	40	40	PDZRN4	A	1	1
APOBEC1	339	broad.mit.edu	36	12	7696670	7696670	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7696670C>T	uc001qtb.1	-	c.73G>A	c.(73-75)GTC>ATC	p.V25I	APOBEC1_uc001qtc.1_5'UTR	NM_001644	NP_001635	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme	25					cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding				0						Pancreas(135;929 1826 4531 10527 41012)								0.318681	80.128062	82.795654	29	62	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7696670	7696670	798	12	C	T	T	19	19	APOBEC1	T	1	1
HEATR5A	25938	broad.mit.edu	36	14	30860583	30860583	+	Missense_Mutation	SNP	G	C	C			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:30860583G>C	uc001wrf.2	-	c.2963C>G	c.(2962-2964)GCC>GGC	p.A988G	HEATR5A_uc010ami.1_Missense_Mutation_p.A886G	NM_015473	NP_056288			HEAT repeat containing 5A											ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)													0.266667	7.23055	8.023544	4	11	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	Missense_Mutation	SNP	30860583	30860583	7314	14	G	C	C	42	42	HEATR5A	C	3	3
CHRNB4	1143	broad.mit.edu	36	15	76708919	76708919	+	Silent	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:76708919G>A	uc002bed.1	-	c.783C>T	c.(781-783)GGC>GGT	p.G261G	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.G79G	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	261	Cytoplasmic (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0										152				0.483051	174.272772	174.301923	57	61	GG		KEEP	---	---	---	---	capture			Silent	SNP	76708919	76708919	3527	15	G	A	A	38	38	CHRNB4	A	1	1
CACNG3	10368	broad.mit.edu	36	16	24280359	24280359	+	Nonsense_Mutation	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:24280359C>T	uc002dmf.1	+	c.622C>T	c.(622-624)CGA>TGA	p.R208*		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	208					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0														0.398844	201.593371	203.123876	69	104	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0809)	Nonsense_Mutation	SNP	24280359	24280359	2674	16	C	T	T	19	19	CACNG3	T	5	1
ABCC11	85320	broad.mit.edu	36	16	46768370	46768370	+	Silent	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:46768370G>A	uc002eff.1	-	c.3504C>T	c.(3502-3504)CAC>CAT	p.H1168H	ABCC11_uc002efg.1_Silent_p.H1168H|ABCC11_uc002efh.1_Silent_p.H1168H|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	1168	ABC transporter 2.|Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|central_nervous_system(1)	4		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)												0.169811	18.345964	23.810336	9	44	GG		KEEP	---	---	---	---	capture			Silent	SNP	46768370	46768370	52	16	G	A	A	40	40	ABCC11	A	1	1
MAPK7	5598	broad.mit.edu	36	17	19224890	19224890	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:19224890C>T	uc002gvn.1	+	c.775C>T	c.(775-777)CGC>TGC	p.R259C	B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.2_5'Flank|MAPK7_uc002gvo.1_Missense_Mutation_p.R120C|MAPK7_uc002gvp.1_Missense_Mutation_p.R259C|MAPK7_uc002gvq.1_Missense_Mutation_p.R259C	NM_139033	NP_620601	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	259	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(3)|lung(1)|skin(1)	5	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)								p.R259C(LS411N-Tumor)	176				0.338028	65.879102	67.52585	24	47	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19224890	19224890	9665	17	C	T	T	27	27	MAPK7	T	1	1
FOXN1	8456	broad.mit.edu	36	17	23875126	23875126	+	Silent	SNP	A	C	C			TCGA-12-3650-01	TCGA-12-3650-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:23875126A>C	uc010crm.1	+	c.12A>C	c.(10-12)CTA>CTC	p.L4L	FOXN1_uc002hbj.1_Silent_p.L4L	NM_003593	NP_003584	O15353	FOXN1_HUMAN	forkhead box N1	4					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	Lung NSC(42;0.00431)													0.238095	6.964652	8.285322	5	16	AA		KEEP	---	---	---	---	capture			Silent	SNP	23875126	23875126	6265	17	A	C	C	14	14	FOXN1	C	4	4
GAS2L2	246176	broad.mit.edu	36	17	31096598	31096598	+	Silent	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:31096598C>T	uc002hjv.1	-	c.2031G>A	c.(2029-2031)CCG>CCA	p.P677P		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	677					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)												0.454198	358.394572	358.872835	119	143	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Silent	SNP	31096598	31096598	6511	17	C	T	T	31	31	GAS2L2	T	1	1
JUP	3728	broad.mit.edu	36	17	37172893	37172893	+	Silent	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37172893G>A	uc002hxq.1	-	c.1365C>T	c.(1363-1365)GCC>GCT	p.A455A	JUP_uc002hxr.1_Silent_p.A455A|JUP_uc002hxs.1_Silent_p.A455A	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	455	ARM 6.				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|structural constituent of cell wall|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)				Colon(16;42 520 6044 17852 28530)								0.449438	124.656967	124.858651	40	49	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	Silent	SNP	37172893	37172893	8276	17	G	A	A	39	39	JUP	A	1	1
HOXB1	3211	broad.mit.edu	36	17	43962744	43962744	+	Silent	SNP	G	T	T			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:43962744G>T	uc002ink.1	-	c.522C>A	c.(520-522)ACC>ACA	p.T174T		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	174						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.333333	39.284983	40.46533	16	32	GG		KEEP	---	---	---	---	capture			Silent	SNP	43962744	43962744	7591	17	G	T	T	43	43	HOXB1	T	3	3
CD300C	10871	broad.mit.edu	36	17	70050720	70050720	+	Silent	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70050720G>A	uc002jky.1	-	c.402C>T	c.(400-402)GCC>GCT	p.A134A		NM_006678	NP_006669	Q08708	CLM6_HUMAN	CD300C antigen	134	Pro-rich.|Extracellular (Potential).				cellular defense response	integral to plasma membrane	transmembrane receptor activity				0						Esophageal Squamous(66;421 1121 20537 25337 27468)								0.372727	116.454137	118.015163	41	69	GG		KEEP	---	---	---	---	capture			Silent	SNP	70050720	70050720	3125	17	G	A	A	39	39	CD300C	A	1	1
C18orf21	83608	broad.mit.edu	36	18	31808928	31808928	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:31808928C>T	uc002kzc.1	+	c.172C>T	c.(172-174)CGT>TGT	p.R58C	C18orf21_uc002kzd.1_5'UTR	NM_031446	NP_113634	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	58											0														0.435065	205.603682	206.169453	67	87	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31808928	31808928	1958	18	C	T	T	27	27	C18orf21	T	1	1
S1PR5	53637	broad.mit.edu	36	19	10485599	10485599	+	Silent	SNP	C	G	G			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10485599C>G	uc002mot.1	-	c.1089G>C	c.(1087-1089)TCG>TCC	p.S363S	S1PR5_uc002mou.1_Silent_p.S363S|S1PR5_uc010dxg.1_Silent_p.S363S	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	endothelial differentiation, sphingolipid	363	Cytoplasmic (By similarity).					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|pancreas(1)	2														0.217391	7.652856	9.327934	5	18	CC		KEEP	---	---	---	---	capture			Silent	SNP	10485599	10485599	14277	19	C	G	G	23	23	S1PR5	G	3	3
LPHN1	22859	broad.mit.edu	36	19	14133186	14133186	+	Missense_Mutation	SNP	A	C	C			TCGA-12-3650-01	TCGA-12-3650-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14133186A>C	uc002myg.1	-	c.1463T>G	c.(1462-1464)GTC>GGC	p.V488G	LPHN1_uc002myh.1_Missense_Mutation_p.V483G	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	488	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)	2														0.235294	8.596342	9.6828	4	13	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14133186	14133186	9288	19	A	C	C	10	10	LPHN1	C	4	4
TMEM38A	79041	broad.mit.edu	36	19	16651904	16651904	+	Silent	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16651904C>T	uc002nes.1	+	c.234C>T	c.(232-234)ATC>ATT	p.I78I		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	78	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|ovary(1)	3														0.248	76.397647	83.598726	31	94	CC		KEEP	---	---	---	---	capture			Silent	SNP	16651904	16651904	16698	19	C	T	T	31	31	TMEM38A	T	1	1
CCNE1	898	broad.mit.edu	36	19	35005329	35005329	+	Missense_Mutation	SNP	C	G	G			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:35005329C>G	uc002nsn.1	+	c.1089C>G	c.(1087-1089)CAC>CAG	p.H363Q	CCNE1_uc002nso.1_Missense_Mutation_p.H348Q|CCNE1_uc002nsp.1_Missense_Mutation_p.H110Q	NM_001238	NP_476530	P24864	CCNE1_HUMAN	cyclin E1 isoform 1	363					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|transcription coactivator activity			lung(1)	1	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)									193				0.292517	271.733284	283.064648	86	208	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		Missense_Mutation	SNP	35005329	35005329	3047	19	C	G	G	17	17	CCNE1	G	3	3
ZNF569	148266	broad.mit.edu	36	19	42596727	42596727	+	Missense_Mutation	SNP	G	C	C			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42596727G>C	uc002ogj.1	-	c.745C>G	c.(745-747)CAC>GAC	p.H249D	ZNF569_uc002ogh.1_Missense_Mutation_p.H66D|ZNF569_uc002ogi.1_Missense_Mutation_p.H225D	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	225	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2														0.304094	169.147355	174.996297	52	119	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Missense_Mutation	SNP	42596727	42596727	18595	19	G	C	C	45	45	ZNF569	C	3	3
EML2	24139	broad.mit.edu	36	19	50808669	50808669	+	Silent	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50808669G>A	uc002pcn.1	-	c.1794C>T	c.(1792-1794)CAC>CAT	p.H598H	EML2_uc002pco.1_Non-coding_Transcript|EML2_uc002pcp.1_Silent_p.H482H	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	598	WD 10.				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)												0.28	103.71112	110.224451	42	108	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	Silent	SNP	50808669	50808669	5289	19	G	A	A	44	44	EML2	A	2	2
HAS1	3036	broad.mit.edu	36	19	56908762	56908762	+	Silent	SNP	G	C	C			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56908762G>C	uc002pxn.1	-	c.1488C>G	c.(1486-1488)GGC>GGG	p.G496G	HAS1_uc010epc.1_Silent_p.G89G|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxo.1_Silent_p.G489G|HAS1_uc002pxp.1_Silent_p.G488G	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	489	Extracellular (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)				NSCLC(132;636 2450 45807 47979)								0.266667	7.569257	8.327937	4	11	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	Silent	SNP	56908762	56908762	7243	19	G	C	C	46	46	HAS1	C	3	3
LILRB5	10990	broad.mit.edu	36	19	59451213	59451213	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59451213C>T	uc002qey.1	-	c.700G>A	c.(700-702)GTG>ATG	p.V234M	LILRA6_uc002qew.1_Intron|LILRB5_uc002qex.1_Missense_Mutation_p.V234M|LILRB5_uc002qez.1_Missense_Mutation_p.V134M|LILRB5_uc002qfa.1_Missense_Mutation_p.V124M	NM_001081442	NP_001074911	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	234	Ig-like C2-type 3.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)													0.430556	94.122877	94.423406	31	41	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.105)	Missense_Mutation	SNP	59451213	59451213	9120	19	C	T	T	19	19	LILRB5	T	1	1
MUC16	94025	broad.mit.edu	36	19	8923926	8923926	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8923926C>T	uc002mkp.1	-	c.24520G>A	c.(24520-24522)GTG>ATG	p.V8174M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8176	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.29697	136.305729	142.390281	49	116	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8923926	8923926	10367	19	C	T	T	20	20	MUC16	T	2	2
COL11A1	1301	broad.mit.edu	36	1	103259901	103259901	+	Missense_Mutation	SNP	C	A	A			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:103259901C>A	uc001dum.1	-	c.1294G>T	c.(1294-1296)GGT>TGT	p.G432C	COL11A1_uc001duk.1_5'UTR|COL11A1_uc001dul.1_Missense_Mutation_p.G420C|COL11A1_uc001dun.1_Missense_Mutation_p.G381C|COL11A1_uc009weh.1_Missense_Mutation_p.G304C	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	420	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)												0.290323	97.933931	102.829665	36	88	CC		KEEP	---	---	---	---	capture		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	Missense_Mutation	SNP	103259901	103259901	3805	1	C	A	A	21	21	COL11A1	A	3	3
HSPA6	3310	broad.mit.edu	36	1	159762081	159762081	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159762081G>A	uc001gap.1	+	c.1009G>A	c.(1009-1011)GTC>ATC	p.V337I	HSPA6_uc001gaq.1_Missense_Mutation_p.V337I	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	337					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)													0.540984	101.17507	101.26435	33	28	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00376)		Missense_Mutation	SNP	159762081	159762081	7714	1	G	A	A	40	40	HSPA6	A	1	1
CFHR2	3080	broad.mit.edu	36	1	195193733	195193733	+	Missense_Mutation	SNP	G	T	T			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195193733G>T	uc001gtq.1	+	c.520G>T	c.(520-522)GTT>TTT	p.V174F	CFHR2_uc001gtr.1_Missense_Mutation_p.V50F	NM_005666	NP_005657	P36980	FHR2_HUMAN	H factor (complement)-like 3	174	Sushi 3.					extracellular region				ovary(1)	1														0.440252	221.825887	222.321071	70	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	195193733	195193733	3418	1	G	T	T	36	36	CFHR2	T	3	3
FOXJ3	22887	broad.mit.edu	36	1	42466143	42466143	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:42466143G>A	uc001che.1	-	c.526C>T	c.(526-528)CGG>TGG	p.R176W	FOXJ3_uc001chf.1_Missense_Mutation_p.R176W|FOXJ3_uc001chg.1_Missense_Mutation_p.R176W|FOXJ3_uc001chh.1_Missense_Mutation_p.R176W	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	176					embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)												0.424051	206.90471	207.698447	67	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42466143	42466143	6259	1	G	A	A	40	40	FOXJ3	A	1	1
SLC44A5	204962	broad.mit.edu	36	1	75456229	75456229	+	Missense_Mutation	SNP	G	T	T			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:75456229G>T	uc001dgu.1	-	c.1534C>A	c.(1534-1536)CAC>AAC	p.H512N	SLC44A5_uc001dgr.1_Missense_Mutation_p.H470N|SLC44A5_uc001dgs.1_Missense_Mutation_p.H470N|SLC44A5_uc001dgt.1_Missense_Mutation_p.H512N	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	512	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)	2														0.328947	65.34478	67.31841	25	51	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75456229	75456229	15136	1	G	T	T	45	45	SLC44A5	T	3	3
C20orf132	140699	broad.mit.edu	36	20	35185471	35185471	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:35185471C>T	uc002xgl.1	-	c.1691G>A	c.(1690-1692)GGC>GAC	p.G564D	C20orf132_uc002xgk.1_Missense_Mutation_p.G276D	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	55											0		Myeloproliferative disorder(115;0.00878)												0.389706	151.682369	153.117586	53	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35185471	35185471	2163	20	C	T	T	26	26	C20orf132	T	2	2
HNF4A	3172	broad.mit.edu	36	20	42475780	42475780	+	Nonsense_Mutation	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:42475780C>T	uc002xma.1	+	c.418C>T	c.(418-420)CGA>TGA	p.R140*	HNF4A_uc002xlt.1_Nonsense_Mutation_p.R118*|HNF4A_uc002xlu.1_Nonsense_Mutation_p.R118*|HNF4A_uc002xlv.1_Nonsense_Mutation_p.R118*|HNF4A_uc002xly.1_Nonsense_Mutation_p.R140*|HNF4A_uc002xlz.1_Nonsense_Mutation_p.R140*|HNF4A_uc010ggq.1_Nonsense_Mutation_p.R133*	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	140					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|promoter binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)				Colon(79;2 1269 8820 14841 52347)								0.393939	37.067329	37.392369	13	20	CC		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(18;0.00189)		Nonsense_Mutation	SNP	42475780	42475780	7545	20	C	T	T	31	31	HNF4A	T	5	1
PRR5-ARHGAP8	553158	broad.mit.edu	36	22	43561080	43561080	+	Silent	SNP	C	G	G			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:43561080C>G	uc003bfd.1	+	c.771C>G	c.(769-771)GGC>GGG	p.G257G	PRR5-ARHGAP8_uc003bfc.1_Silent_p.G134G|PRR5-ARHGAP8_uc003bff.1_Silent_p.G39G|PRR5-ARHGAP8_uc003bfg.1_Silent_p.G39G|ARHGAP8_uc003bfi.2_Silent_p.G3G|ARHGAP8_uc010gzv.1_Silent_p.G3G|ARHGAP8_uc003bfj.1_Silent_p.G3G|ARHGAP8_uc003bfk.1_Silent_p.G3G|PRR5-ARHGAP8_uc003bfl.1_Non-coding_Transcript	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2												0														0.222222	9.791518	11.068427	4	14	CC		KEEP	---	---	---	---	capture			Silent	SNP	43561080	43561080	13050	22	C	G	G	26	26	PRR5-ARHGAP8	G	3	3
PLB1	151056	broad.mit.edu	36	2	28594867	28594867	+	Missense_Mutation	SNP	C	A	A			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:28594867C>A	uc002rmb.1	+	c.148C>A	c.(148-150)CCA>ACA	p.P50T	PLB1_uc010ezj.1_Missense_Mutation_p.P50T	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1	50	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|breast(1)	7	Acute lymphoblastic leukemia(172;0.155)													0.347561	160.424465	163.788743	57	107	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28594867	28594867	12450	2	C	A	A	22	22	PLB1	A	3	3
ADH1B	125	broad.mit.edu	36	4	100451722	100451722	+	Missense_Mutation	SNP	A	C	C			TCGA-12-3650-01	TCGA-12-3650-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:100451722A>C	uc003hus.2	-	c.943T>G	c.(943-945)TGG>GGG	p.W315G	ADH1B_uc003hut.2_Missense_Mutation_p.W275G	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	315					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2					Fomepizole(DB01213)|NADH(DB00157)									0.452	373.34136	373.843445	113	137	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Missense_Mutation	SNP	100451722	100451722	309	4	A	C	C	7	7	ADH1B	C	4	4
TACR3	6870	broad.mit.edu	36	4	104859807	104859807	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:104859807G>A	uc003hxe.1	-	c.475C>T	c.(475-477)CGC>TGC	p.R159C		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	159	Extracellular (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(2)|skin(1)	3		Hepatocellular(203;0.217)												0.46	73.122879	73.192107	23	27	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	Missense_Mutation	SNP	104859807	104859807	16028	4	G	A	A	39	39	TACR3	A	1	1
VEGFC	7424	broad.mit.edu	36	4	177887861	177887861	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:177887861G>A	uc003ius.1	-	c.181C>T	c.(181-183)CGG>TGG	p.R61W		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	61					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(2)	2		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)								148				0.445783	111.664279	111.876774	37	46	GG		KEEP	---	---	---	---	capture		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	Missense_Mutation	SNP	177887861	177887861	17719	4	G	A	A	40	40	VEGFC	A	1	1
STK32B	55351	broad.mit.edu	36	4	5512734	5512734	+	Silent	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:5512734C>T	uc003gih.1	+	c.787C>T	c.(787-789)CTG>TTG	p.L263L	STK32B_uc010ida.1_Silent_p.L216L	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	263	Protein kinase.				protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5										175		OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.377551	117.250129	118.540082	37	61	CC		KEEP	---	---	---	---	capture			Silent	SNP	5512734	5512734	15818	4	C	T	T	24	24	STK32B	T	2	2
SLC6A19	340024	broad.mit.edu	36	5	1269997	1269997	+	Silent	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1269997C>T	uc003jbw.2	+	c.1110C>T	c.(1108-1110)TCC>TCT	p.S370S		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	370	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)													0.304348	239.209674	248.628634	84	192	CC		KEEP	---	---	---	---	capture	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Silent	SNP	1269997	1269997	15179	5	C	T	T	23	23	SLC6A19	T	1	1
SLIT3	6586	broad.mit.edu	36	5	168242872	168242872	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:168242872C>T	uc010jjg.1	-	c.461G>A	c.(460-462)CGC>CAC	p.R154H	SLIT3_uc003mab.1_Missense_Mutation_p.R154H|SLIT3_uc010jji.1_Missense_Mutation_p.R154H	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3	154	LRR 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)				Ovarian(29;311 847 10864 17279 24903)								0.384615	145.932624	147.444907	50	80	CC		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	168242872	168242872	15239	5	C	T	T	27	27	SLIT3	T	1	1
PLEKHG4B	153478	broad.mit.edu	36	5	193705	193705	+	Nonsense_Mutation	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:193705C>T	uc003jak.2	+	c.283C>T	c.(283-285)CAG>TAG	p.Q95*		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	95					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1														0.458333	34.928835	34.964176	11	13	CC		KEEP	---	---	---	---	capture	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	Nonsense_Mutation	SNP	193705	193705	12498	5	C	T	T	21	21	PLEKHG4B	T	5	2
EPB41L2	2037	broad.mit.edu	36	6	131318867	131318867	+	Missense_Mutation	SNP	C	G	G			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:131318867C>G	uc003qch.1	-	c.452G>C	c.(451-453)AGC>ACC	p.S151T	EPB41L2_uc003qcg.1_Missense_Mutation_p.S151T|EPB41L2_uc010kfk.1_Missense_Mutation_p.S151T|EPB41L2_uc003qci.1_Missense_Mutation_p.S151T|EPB41L2_uc010kfl.1_Missense_Mutation_p.S151T	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	151					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)													0.401033	800.977061	805.948266	233	348	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	Missense_Mutation	SNP	131318867	131318867	5346	6	C	G	G	28	28	EPB41L2	G	3	3
C6orf118	168090	broad.mit.edu	36	6	165635356	165635356	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:165635356C>T	uc003qum.2	-	c.445G>A	c.(445-447)GTG>ATG	p.V149M		NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	149											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)												0.41704	280.83342	282.173726	93	130	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	Missense_Mutation	SNP	165635356	165635356	2425	6	C	T	T	20	20	C6orf118	T	2	2
TFAP2D	83741	broad.mit.edu	36	6	50804942	50804942	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:50804942C>T	uc003paf.1	+	c.841C>T	c.(841-843)CGG>TGG	p.R281W		NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	281	H-S-H (helix-span-helix), dimerization.				regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)													0.416667	256.706717	258.015528	90	126	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50804942	50804942	16318	6	C	T	T	19	19	TFAP2D	T	1	1
SPAM1	6677	broad.mit.edu	36	7	123381702	123381702	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:123381702G>A	uc003vle.1	+	c.842G>A	c.(841-843)CGA>CAA	p.R281Q	SPAM1_uc003vld.1_Missense_Mutation_p.R281Q|SPAM1_uc003vlf.2_Missense_Mutation_p.R281Q|SPAM1_uc010lku.1_Missense_Mutation_p.R281Q	NM_003117	NP_003108	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 1	281					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)									0.257282	136.378702	147.379308	53	153	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123381702	123381702	15489	7	G	A	A	37	37	SPAM1	A	1	1
FLNC	2318	broad.mit.edu	36	7	128278762	128278762	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:128278762G>A	uc003vnz.2	+	c.5686G>A	c.(5686-5688)GTG>ATG	p.V1896M	FLNC_uc003voa.2_Missense_Mutation_p.V1863M	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1896	Filamin 17.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.317647	147.593052	152.61674	54	116	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128278762	128278762	6177	7	G	A	A	40	40	FLNC	A	1	1
SLC13A4	26266	broad.mit.edu	36	7	135026882	135026882	+	Silent	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:135026882G>A	uc003vtb.1	-	c.1275C>T	c.(1273-1275)CTC>CTT	p.L425L	PL-5283_uc003vsz.2_Non-coding_Transcript|SLC13A4_uc003vta.1_Silent_p.L424L	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	424	Helical; (Potential).					integral to plasma membrane	sodium:sulfate symporter activity				0														0.263158	94.360375	101.111348	35	98	GG		KEEP	---	---	---	---	capture			Silent	SNP	135026882	135026882	14889	7	G	A	A	33	33	SLC13A4	A	2	2
CNPY4	245812	broad.mit.edu	36	7	99555316	99555316	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99555316C>T	uc003uto.1	+	c.13C>T	c.(13-15)CGG>TGG	p.R5W	TAF6_uc003uti.1_5'Flank|TAF6_uc003utk.1_5'Flank|TAF6_uc003utj.1_5'Flank|TAF6_uc003utm.1_5'Flank|TAF6_uc003utl.1_5'Flank|TAF6_uc003utn.1_5'Flank	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN	canopy 4 homolog	5						extracellular region					0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.264706	87.245083	94.048448	36	100	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99555316	99555316	3768	7	C	T	T	27	27	CNPY4	T	1	1
ZBTB10	65986	broad.mit.edu	36	8	81594299	81594299	+	Missense_Mutation	SNP	G	T	T			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:81594299G>T	uc003ybx.2	+	c.2597G>T	c.(2596-2598)TGT>TTT	p.C866F	ZBTB10_uc003ybv.2_Missense_Mutation_p.C574F|ZBTB10_uc003ybw.2_Missense_Mutation_p.C842F|ZBTB10_uc010lzt.1_Missense_Mutation_p.C864F	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10 isoform	866					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)													0.434783	33.148345	33.233293	10	13	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		Missense_Mutation	SNP	81594299	81594299	18109	8	G	T	T	48	48	ZBTB10	T	3	3
OR13C9	286362	broad.mit.edu	36	9	106419356	106419356	+	Silent	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:106419356G>A	uc004bcf.1	-	c.951C>T	c.(949-951)AGC>AGT	p.S317S		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C,	317	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.375427	302.55782	306.556539	110	183	GG		KEEP	---	---	---	---	capture			Silent	SNP	106419356	106419356	11345	9	G	A	A	46	46	OR13C9	A	2	2
ADAMTS13	11093	broad.mit.edu	36	9	135292752	135292752	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135292752G>A	uc004cdv.2	+	c.1498G>A	c.(1498-1500)GAC>AAC	p.D500N	ADAMTS13_uc004cdp.2_Intron|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.D500N|ADAMTS13_uc004cdu.1_Missense_Mutation_p.D469N|ADAMTS13_uc004cdw.2_Missense_Mutation_p.D500N|ADAMTS13_uc004cdx.2_Missense_Mutation_p.D469N|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.2_Missense_Mutation_p.D170N	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	500	Cell attachment site (Potential).				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6														0.422764	163.974969	164.616036	52	71	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	Missense_Mutation	SNP	135292752	135292752	259	9	G	A	A	33	33	ADAMTS13	A	2	2
TAF1L	138474	broad.mit.edu	36	9	32620679	32620679	+	Silent	SNP	A	T	T			TCGA-12-3650-01	TCGA-12-3650-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:32620679A>T	uc003zrg.1	-	c.4899T>A	c.(4897-4899)CTT>CTA	p.L1633L		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1633					male meiosis|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding|transcription activator activity			lung(8)|large_intestine(3)|central_nervous_system(3)|skin(2)|ovary(2)|breast(1)|pancreas(1)	20										234				0.407666	344.310802	346.450969	117	170	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	Silent	SNP	32620679	32620679	16044	9	A	T	T	5	5	TAF1L	T	4	4
KIAA1210	57481	broad.mit.edu	36	X	118105703	118105703	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:118105703C>T	uc004era.2	-	c.3518G>A	c.(3517-3519)CGA>CAA	p.R1173Q		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1173										ovary(4)|skin(1)	5														0.844444	129.978438	135.077884	38	7	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118105703	118105703	8522	23	C	T	T	31	31	KIAA1210	T	1	1
FIGF	2277	broad.mit.edu	36	X	15291290	15291290	+	Nonsense_Mutation	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:15291290G>A	uc004cwt.1	-	c.163C>T	c.(163-165)CGA>TGA	p.R55*		NM_004469	NP_004460	O43915	VEGFD_HUMAN	vascular endothelial growth factor D	55					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Hepatocellular(33;0.183)									167				0.924051	251.692345	265.299482	73	6	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	15291290	15291290	6127	23	G	A	A	37	37	FIGF	A	5	1
FLNA	2316	broad.mit.edu	36	X	153241785	153241785	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3650-01	TCGA-12-3650-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153241785G>A	uc004fkk.2	-	c.3572C>T	c.(3571-3573)GCG>GTG	p.A1191V	FLNA_uc010nuu.1_Missense_Mutation_p.A1191V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1191	Filamin 10.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	actin cytoskeleton|cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)									518		OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.402299	102.609292	103.334731	35	52	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153241785	153241785	6175	23	G	A	A	38	38	FLNA	A	1	1
DNASE1L1	1774	broad.mit.edu	36	X	153286608	153286608	+	Missense_Mutation	SNP	C	G	G			TCGA-12-3650-01	TCGA-12-3650-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153286608C>G	uc004fks.1	-	c.146G>C	c.(145-147)CGC>CCC	p.R49P	DNASE1L1_uc004fkt.1_Missense_Mutation_p.R49P|DNASE1L1_uc004fku.1_Missense_Mutation_p.R49P|DNASE1L1_uc004fkv.1_Missense_Mutation_p.R49P|DNASE1L1_uc004fkw.1_Missense_Mutation_p.R49P	NM_006730	NP_006721	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1 precursor	49					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.205128	6.682986	9.874749	8	31	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153286608	153286608	4844	23	C	G	G	27	27	DNASE1L1	G	3	3
KRTAP4-1	85285	broad.mit.edu	36	17	36594001	36594003	+	Splice_Site_Del	DEL	TGC	-	-			TCGA-12-3650-01	TCGA-12-3650-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:36594001_36594003delTGC	uc002hwe.2	-	c.e2_splice_site				NM_033060	NP_149049			keratin associated protein 4-1							keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)											0.50			7	7				---	---	---	---	capture_indel			Splice_Site_Del	DEL	36594001	36594003	8870	17	TGC	-	-	51	51	KRTAP4-1	-	5	5
KIF19	124602	broad.mit.edu	36	17	69854146	69854146	+	Frame_Shift_Del	DEL	C	-	-			TCGA-12-3650-01	TCGA-12-3650-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:69854146_69854146delC	uc002jkm.2	+	c.812_812delC	c.(811-813)GCCfs	p.A271fs	KIF19_uc002jkj.2_Frame_Shift_Del_p.A271fs|KIF19_uc002jkk.2_Frame_Shift_Del_p.A229fs|KIF19_uc002jkl.2_Frame_Shift_Del_p.A229fs	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	271	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0														0.33			3	6				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	69854146	69854146	8593	17	C	-	-	26	26	KIF19	-	5	5
CBX4	8535	broad.mit.edu	36	17	75422835	75422836	+	In_Frame_Ins	INS	-	GTG	GTG			TCGA-12-3650-01	TCGA-12-3650-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:75422835_75422836insGTG	uc002jxe.1	-	c.1200_1201insCAC	c.(1198-1203)insCAC	p.400_401insH		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	400_401					anti-apoptosis|chromatin assembly or disassembly|chromatin modification|transcription, DNA-dependent	chromatin|Golgi apparatus|nucleus	enzyme binding|transcription corepressor activity				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)											0.33			3	6				---	---	---	---	capture_indel			In_Frame_Ins	INS	75422835	75422836	2839	17	-	GTG	GTG	27	27	CBX4	GTG	5	5
