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
C10orf53	282966	broad.mit.edu	36	10	50571828	50571828	+	Missense_Mutation	SNP	G	T	T			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:50571828G>T	uc001jid.1	+	c.100G>T	c.(100-102)GTG>TTG	p.V34L	C10orf53_uc001jib.1_Missense_Mutation_p.V34L|C10orf53_uc001jic.1_Missense_Mutation_p.V34L	NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53 isoform a	34											0		all_neural(218;0.107)												0.851852	80.241943	83.449812	23	4	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50571828	50571828	1643	10	G	T	T	48	48	C10orf53	T	3	3
STOX1	219736	broad.mit.edu	36	10	70314156	70314156	+	Nonsense_Mutation	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:70314156C>T	uc001joq.1	+	c.598C>T	c.(598-600)CAG>TAG	p.Q200*	STOX1_uc001jor.1_Nonsense_Mutation_p.Q200*|STOX1_uc009xpy.1_Intron|STOX1_uc001jos.1_Nonsense_Mutation_p.Q200*	NM_152709	NP_689922	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	200						cytoplasm|nucleolus	DNA binding			kidney(1)	1														0.676471	71.6808	72.604805	23	11	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	70314156	70314156	15839	10	C	T	T	21	21	STOX1	T	5	2
OR6M1	390261	broad.mit.edu	36	11	123181576	123181576	+	Missense_Mutation	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:123181576C>T	uc001pzh.1	-	c.692G>A	c.(691-693)CGT>CAT	p.R231H		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)												0.388889	19.05483	19.237429	7	11	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	Missense_Mutation	SNP	123181576	123181576	11615	11	C	T	T	19	19	OR6M1	T	1	1
SLC6A5	9152	broad.mit.edu	36	11	20592848	20592848	+	Missense_Mutation	SNP	A	T	T			TCGA-19-5959-01	TCGA-19-5959-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:20592848A>T	uc001mqd.1	+	c.1033A>T	c.(1033-1035)ACT>TCT	p.T345S	SLC6A5_uc009yic.1_Missense_Mutation_p.T110S	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	345	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)	3					Glycine(DB00145)									0.471154	146.769172	146.844131	49	55	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20592848	20592848	15184	11	A	T	T	10	10	SLC6A5	T	4	4
OR8H3	390152	broad.mit.edu	36	11	55646789	55646789	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55646789G>A	uc001nii.1	+	c.365G>A	c.(364-366)CGC>CAC	p.R122H		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)													0.405941	228.588422	230.15557	82	120	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55646789	55646789	11650	11	G	A	A	38	38	OR8H3	A	1	1
OR5A1	219982	broad.mit.edu	36	11	58967336	58967336	+	Missense_Mutation	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:58967336C>T	uc001nnx.1	+	c.119C>T	c.(118-120)ACC>ATC	p.T40I		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2														0.442857	90.615067	90.813994	31	39	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58967336	58967336	11549	11	C	T	T	18	18	OR5A1	T	2	2
C11orf66	220004	broad.mit.edu	36	11	61005941	61005941	+	Silent	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:61005941C>T	uc001nru.1	+	c.84C>T	c.(82-84)TAC>TAT	p.Y28Y	C11orf66_uc009ynq.1_Silent_p.Y28Y	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	28										ovary(1)	1														0.333333	16.345675	16.787649	6	12	CC		KEEP	---	---	---	---	capture			Silent	SNP	61005941	61005941	1695	11	C	T	T	19	19	C11orf66	T	1	1
OVOL1	5017	broad.mit.edu	36	11	65318281	65318281	+	Missense_Mutation	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65318281C>T	uc001ofp.1	+	c.304C>T	c.(304-306)CGC>TGC	p.R102C	OVOL1_uc001ofq.1_Missense_Mutation_p.R40C	NM_004561	NP_004552	O14753	OVOL1_HUMAN	OVO-like 1 binding protein	102					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.321429	49.036539	50.619304	18	38	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(159;0.17)	Missense_Mutation	SNP	65318281	65318281	11739	11	C	T	T	27	27	OVOL1	T	1	1
ARRB1	408	broad.mit.edu	36	11	74657591	74657591	+	Silent	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:74657591C>T	uc001owe.1	-	c.1083G>A	c.(1081-1083)CCG>CCA	p.P361P	ARRB1_uc001owf.1_Silent_p.P353P	NM_004041	NP_004032	P49407	ARRB1_HUMAN	arrestin beta 1 isoform A	361	Interaction with TRAF6.				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|promoter binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)	1														0.333333	34.896986	35.950136	14	28	CC		KEEP	---	---	---	---	capture			Silent	SNP	74657591	74657591	998	11	C	T	T	27	27	ARRB1	T	1	1
C12orf51	283450	broad.mit.edu	36	12	111134813	111134813	+	Missense_Mutation	SNP	T	C	C			TCGA-19-5959-01	TCGA-19-5959-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:111134813T>C	uc009zwc.1	-	c.6224A>G	c.(6223-6225)GAG>GGG	p.E2075G	C12orf51_uc001ttr.1_Missense_Mutation_p.E250G	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)	1														0.307692	9.537525	10.431488	8	18	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111134813	111134813	1740	12	T	C	C	54	54	C12orf51	C	4	4
OAS1	4938	broad.mit.edu	36	12	111830932	111830932	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:111830932G>A	uc001tuc.1	+	c.389G>A	c.(388-390)CGT>CAT	p.R130H	OAS1_uc001tub.1_Missense_Mutation_p.R130H|OAS1_uc001tud.1_Missense_Mutation_p.R130H|OAS1_uc009zwf.1_Missense_Mutation_p.R129H	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 3	130	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(2)	2														0.474576	83.996321	84.02935	28	31	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111830932	111830932	11204	12	G	A	A	40	40	OAS1	A	1	1
GRIN2B	2904	broad.mit.edu	36	12	13607485	13607485	+	Silent	SNP	G	C	C			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:13607485G>C	uc001rbt.2	-	c.3954C>G	c.(3952-3954)GCC>GCG	p.A1318A		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1318	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|lung(2)|skin(1)	10					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					371				0.403846	65.279625	65.694991	21	31	GG		KEEP	---	---	---	---	capture			Silent	SNP	13607485	13607485	7059	12	G	C	C	43	43	GRIN2B	C	3	3
OR4K15	81127	broad.mit.edu	36	14	19513799	19513799	+	Silent	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19513799C>T	uc001vwk.1	+	c.282C>T	c.(280-282)GAC>GAT	p.D94D		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	94	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)													0.354545	112.199299	114.247804	39	71	CC		KEEP	---	---	---	---	capture	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	Silent	SNP	19513799	19513799	11480	14	C	T	T	19	19	OR4K15	T	1	1
CHD8	57680	broad.mit.edu	36	14	20941015	20941015	+	Splice_Site_SNP	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:20941015C>T	uc001was.1	-	c.2877_splice	c.e18+1	p.Q959_splice	CHD8_uc001war.1_Splice_Site_SNP_p.Q855_splice|CHD8_uc001wav.1_Splice_Site_SNP_p.Q401_splice	NM_020920	NP_065971			chromodomain helicase DNA binding protein 8						ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|chromatin assembly or disassembly|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	chromatin|MLL1 complex	ATP binding|beta-catenin binding|chromatin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding|transcription activator activity|transcription repressor activity			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)									886				0.470588	24.498272	24.511113	8	9	CC		KEEP	---	---	---	---	capture	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	Splice_Site_SNP	SNP	20941015	20941015	3465	14	C	T	T	18	18	CHD8	T	5	2
ACTN1	87	broad.mit.edu	36	14	68426644	68426644	+	Missense_Mutation	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:68426644C>T	uc001xkm.1	-	c.1199G>A	c.(1198-1200)CGG>CAG	p.R400Q	ACTN1_uc001xkk.1_5'Flank|ACTN1_uc001xkl.1_Missense_Mutation_p.R400Q|ACTN1_uc001xkn.1_Missense_Mutation_p.R400Q|ACTN1_uc001xko.1_Missense_Mutation_p.R335Q	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	400	Spectrin 2.|Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1														0.466667	22.725651	22.739938	7	8	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	Missense_Mutation	SNP	68426644	68426644	205	14	C	T	T	23	23	ACTN1	T	1	1
FMN1	342184	broad.mit.edu	36	15	31048577	31048577	+	Missense_Mutation	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:31048577C>T	uc001zhf.2	-	c.1948G>A	c.(1948-1950)GCA>ACA	p.A650T		NM_001103184	NP_001096654	C9JFW6	C9JFW6_HUMAN	formin 1	488										ovary(1)	1		all_lung(180;1.14e-07)												0.526316	28.548469	28.559763	10	9	CC		KEEP	---	---	---	---	capture		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Missense_Mutation	SNP	31048577	31048577	6191	15	C	T	T	27	27	FMN1	T	1	1
ITGA11	22801	broad.mit.edu	36	15	66430671	66430671	+	Silent	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:66430671G>A	uc010bib.1	-	c.873C>T	c.(871-873)AAC>AAT	p.N291N	ITGA11_uc002ari.1_Silent_p.N291N	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	291	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)									0.371429	36.869515	37.37635	13	22	GG		KEEP	---	---	---	---	capture			Silent	SNP	66430671	66430671	8178	15	G	A	A	40	40	ITGA11	A	1	1
CSPG4	1464	broad.mit.edu	36	15	73767146	73767146	+	Silent	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:73767146C>T	uc002baw.1	-	c.3315G>A	c.(3313-3315)CTG>CTA	p.L1105L		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1105	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 6.				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3										549				0.507937	88.844892	88.847423	32	31	CC		KEEP	---	---	---	---	capture			Silent	SNP	73767146	73767146	4101	15	C	T	T	25	25	CSPG4	T	2	2
C15orf27	123591	broad.mit.edu	36	15	74217157	74217157	+	Silent	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:74217157C>T	uc002bbq.1	+	c.93C>T	c.(91-93)GAC>GAT	p.D31D	C15orf27_uc010bkp.1_De_novo_Start_InFrame|C15orf27_uc002bbr.1_De_novo_Start_OutOfFrame	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	31						integral to membrane					0														0.407767	118.101896	118.873762	42	61	CC		KEEP	---	---	---	---	capture			Silent	SNP	74217157	74217157	1838	15	C	T	T	19	19	C15orf27	T	1	1
C15orf26	161502	broad.mit.edu	36	15	79216067	79216067	+	Silent	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:79216067C>T	uc002bgb.1	+	c.315C>T	c.(313-315)GAC>GAT	p.D105D	C15orf26_uc010blp.1_Silent_p.D80D	NM_173528	NP_775799	Q6P656	CO026_HUMAN	hypothetical protein LOC161502	105											0														0.381818	61.971413	62.64151	21	34	CC		KEEP	---	---	---	---	capture			Silent	SNP	79216067	79216067	1837	15	C	T	T	19	19	C15orf26	T	1	1
HAPLN3	145864	broad.mit.edu	36	15	87231484	87231484	+	Missense_Mutation	SNP	C	A	A			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:87231484C>A	uc002bnd.1	-	c.236G>T	c.(235-237)GGA>GTA	p.G79V	HAPLN3_uc002bnc.1_Missense_Mutation_p.G17V|HAPLN3_uc002bne.1_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	17					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	Lung NSC(78;0.0392)|all_lung(78;0.077)													0.45	47.436772	47.524141	18	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87231484	87231484	7238	15	C	A	A	30	30	HAPLN3	A	3	3
GNPTG	84572	broad.mit.edu	36	16	1352484	1352484	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1352484G>A	uc002clm.1	+	c.557G>A	c.(556-558)CGG>CAG	p.R186Q		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphotransferase, gamma	186						extracellular region|Golgi apparatus	protein binding			central_nervous_system(1)	1		Hepatocellular(780;0.0893)												0.421053	47.391697	47.598531	16	22	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1352484	1352484	6815	16	G	A	A	39	39	GNPTG	A	1	1
ITGAM	3684	broad.mit.edu	36	16	31244347	31244347	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31244347G>A	uc002ebr.1	+	c.2534G>A	c.(2533-2535)CGC>CAC	p.R845H	ITGAM_uc002ebq.1_Missense_Mutation_p.R844H|ITGAM_uc010can.1_Missense_Mutation_p.R250H|ITGAM_uc002ebs.1_Missense_Mutation_p.R250H	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M precursor	844	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1														0.605263	68.526583	68.894868	23	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31244347	31244347	8191	16	G	A	A	38	38	ITGAM	A	1	1
DPEP3	64180	broad.mit.edu	36	16	66567570	66567570	+	Missense_Mutation	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66567570C>T	uc002evc.2	-	c.1232G>A	c.(1231-1233)CGT>CAT	p.R411H	DPEP3_uc010cex.1_Missense_Mutation_p.R410H	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	386					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)												0.135135	12.602658	22.156827	10	64	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	Missense_Mutation	SNP	66567570	66567570	4899	16	C	T	T	19	19	DPEP3	T	1	1
CNTNAP4	85445	broad.mit.edu	36	16	75040258	75040258	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:75040258G>A	uc002fex.1	+	c.845G>A	c.(844-846)CGT>CAT	p.R282H	CNTNAP4_uc002feu.1_Missense_Mutation_p.R279H|CNTNAP4_uc002fev.1_Missense_Mutation_p.R191H|CNTNAP4_uc002few.2_Missense_Mutation_p.R254H|CNTNAP4_uc010chb.1_Missense_Mutation_p.R254H	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	279	Extracellular (Potential).|Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2														0.263158	13.069668	14.031436	5	14	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75040258	75040258	3787	16	G	A	A	40	40	CNTNAP4	A	1	1
CDH13	1012	broad.mit.edu	36	16	82262007	82262007	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:82262007G>A	uc002fgx.1	+	c.1213G>A	c.(1213-1215)GGA>AGA	p.G405R		NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	405	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)												0.362319	71.75952	72.909057	25	44	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(5;0.0268)	Missense_Mutation	SNP	82262007	82262007	3228	16	G	A	A	39	39	CDH13	A	1	1
KRT27	342574	broad.mit.edu	36	17	36192137	36192137	+	Silent	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36192137G>A	uc002hvg.1	-	c.135C>T	c.(133-135)TTC>TTT	p.F45F		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	45	Head.|Gly-rich.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)												0.357143	8.747966	9.008303	5	9	GG		KEEP	---	---	---	---	capture			Silent	SNP	36192137	36192137	8779	17	G	A	A	33	33	KRT27	A	2	2
KRT32	3882	broad.mit.edu	36	17	36872803	36872803	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36872803G>A	uc002hwr.1	-	c.1022C>T	c.(1021-1023)ACG>ATG	p.T341M		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	341	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)												0.361111	33.653363	34.269079	13	23	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36872803	36872803	8783	17	G	A	A	40	40	KRT32	A	1	1
DSG3	1830	broad.mit.edu	36	18	27306716	27306716	+	Missense_Mutation	SNP	A	C	C			TCGA-19-5959-01	TCGA-19-5959-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:27306716A>C	uc002kws.1	+	c.2068A>C	c.(2068-2070)ACA>CCA	p.T690P	DSG3_uc002kwt.1_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	690	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5														0.222222	8.68555	9.969037	4	14	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		Missense_Mutation	SNP	27306716	27306716	4962	18	A	C	C	2	2	DSG3	C	4	4
DCC	1630	broad.mit.edu	36	18	48705727	48705727	+	Missense_Mutation	SNP	T	C	C			TCGA-19-5959-01	TCGA-19-5959-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:48705727T>C	uc002lfe.1	+	c.974T>C	c.(973-975)CTC>CCC	p.L325P		NM_005215	NP_005206	P43146	DCC_HUMAN	deleted in colorectal carcinoma	325	Extracellular (Potential).|Ig-like C2-type 3.				apoptosis|induction of apoptosis	cytosol|integral to membrane				ovary(6)|large_intestine(1)|central_nervous_system(1)|skin(1)	9		all_cancers(7;0.11)|all_epithelial(6;0.00126)												0.396396	140.906877	141.968658	44	67	TT		KEEP	---	---	---	---	capture		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	Missense_Mutation	SNP	48705727	48705727	4453	18	T	C	C	54	54	DCC	C	4	4
DOCK6	57572	broad.mit.edu	36	19	11222720	11222720	+	Nonsense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11222720G>A	uc002mqs.2	-	c.550C>T	c.(550-552)CGA>TGA	p.R184*		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	184					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3														0.285714	10.594379	11.171175	4	10	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	11222720	11222720	4875	19	G	A	A	37	37	DOCK6	A	5	1
OR10H5	284433	broad.mit.edu	36	19	15766063	15766063	+	Missense_Mutation	SNP	A	G	G			TCGA-19-5959-01	TCGA-19-5959-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15766063A>G	uc002nbp.1	+	c.205A>G	c.(205-207)ACC>GCC	p.T69A		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	69	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.316456	70.448277	72.814356	25	54	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15766063	15766063	11315	19	A	G	G	6	6	OR10H5	G	4	4
ATCAY	85300	broad.mit.edu	36	19	3860561	3860561	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3860561G>A	uc002lyy.2	+	c.725G>A	c.(724-726)CGG>CAG	p.R242Q	ATCAY_uc010dts.1_5'UTR	NM_033064	NP_149053	Q86WG3	ATCAY_HUMAN	caytaxin	242	CRAL-TRIO.				transport		protein binding			breast(1)	1		Hepatocellular(1079;0.137)												0.2	9.290572	10.963202	4	16	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	Missense_Mutation	SNP	3860561	3860561	1096	19	G	A	A	39	39	ATCAY	A	1	1
HIF3A	64344	broad.mit.edu	36	19	51524359	51524359	+	Missense_Mutation	SNP	A	G	G			TCGA-19-5959-01	TCGA-19-5959-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:51524359A>G	uc002peh.1	+	c.1496A>G	c.(1495-1497)GAC>GGC	p.D499G	HIF3A_uc002peg.2_Missense_Mutation_p.D499G|HIF3A_uc002pei.2_Missense_Mutation_p.D443G|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.1_Missense_Mutation_p.D443G|HIF3A_uc002pel.1_Missense_Mutation_p.D497G	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	499	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity|transcription regulator activity			central_nervous_system(1)|skin(1)	2		Ovarian(192;0.00965)|all_neural(266;0.0887)												0.175439	20.630097	26.287063	10	47	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	Missense_Mutation	SNP	51524359	51524359	7390	19	A	G	G	10	10	HIF3A	G	4	4
ACPT	93650	broad.mit.edu	36	19	55989580	55989580	+	Missense_Mutation	SNP	A	C	C			TCGA-19-5959-01	TCGA-19-5959-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55989580A>C	uc002pta.1	+	c.916A>C	c.(916-918)ACC>CCC	p.T306P		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor	306	Extracellular (Potential).					integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)												0.266667	6.683229	7.429935	4	11	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	Missense_Mutation	SNP	55989580	55989580	169	19	A	C	C	6	6	ACPT	C	4	4
FPR2	2358	broad.mit.edu	36	19	56964727	56964727	+	Missense_Mutation	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56964727C>T	uc002pxr.1	+	c.1004C>T	c.(1003-1005)ACG>ATG	p.T335M	FPR2_uc002pxs.2_Missense_Mutation_p.T335M|FPR2_uc010epf.1_Missense_Mutation_p.T335M|FPR2_uc010epg.1_Missense_Mutation_p.T335M	NM_001005738	NP_001453	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	335	Cytoplasmic (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)	1														0.475	53.986819	54.010288	19	21	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56964727	56964727	6285	19	C	T	T	19	19	FPR2	T	1	1
ZNF71	58491	broad.mit.edu	36	19	61825059	61825059	+	Missense_Mutation	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61825059C>T	uc002qnm.2	+	c.592C>T	c.(592-594)CGC>TGC	p.R198C	ZNF71_uc010eto.1_Missense_Mutation_p.R198C	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	198	C2H2-type 3.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.434783	28.747529	28.832518	10	13	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	Missense_Mutation	SNP	61825059	61825059	18710	19	C	T	T	27	27	ZNF71	T	1	1
TNFSF9	8744	broad.mit.edu	36	19	6485936	6485936	+	Silent	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6485936C>T	uc002mfh.1	+	c.624C>T	c.(622-624)GCC>GCT	p.A208A		NM_003811	NP_003802	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily,	208	Extracellular (Potential).				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)	1														0.2	9.390682	11.063164	4	16	CC		KEEP	---	---	---	---	capture			Silent	SNP	6485936	6485936	16853	19	C	T	T	23	23	TNFSF9	T	1	1
KCND3	3752	broad.mit.edu	36	1	112325971	112325971	+	Missense_Mutation	SNP	A	G	G			TCGA-19-5959-01	TCGA-19-5959-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:112325971A>G	uc001ebu.1	-	c.901T>C	c.(901-903)TCC>CCC	p.S301P	KCND3_uc001ebv.1_Missense_Mutation_p.S301P	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	301	Helical; Voltage-sensor; Name=Segment S4; (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)												0.25	9.318748	10.210421	4	12	AA		KEEP	---	---	---	---	capture		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Missense_Mutation	SNP	112325971	112325971	8325	1	A	G	G	9	9	KCND3	G	4	4
CRNN	49860	broad.mit.edu	36	1	150648983	150648983	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150648983G>A	uc001ezx.1	-	c.1199C>T	c.(1198-1200)CCG>CTG	p.P400L		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	400					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)													0.346667	72.996865	74.567285	26	49	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150648983	150648983	4031	1	G	A	A	39	39	CRNN	A	1	1
CD1D	912	broad.mit.edu	36	1	156420449	156420449	+	Missense_Mutation	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156420449C>T	uc001frr.1	+	c.986C>T	c.(985-987)ACT>ATT	p.T329I	CD1D_uc009wss.1_Missense_Mutation_p.T236I	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	329	Cytoplasmic (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding|receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.488	182.768454	182.784049	61	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	156420449	156420449	3104	1	C	T	T	19	19	CD1D	T	1	1
SERPINC1	462	broad.mit.edu	36	1	172150456	172150456	+	Missense_Mutation	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:172150456C>T	uc001gjt.1	-	c.266G>A	c.(265-267)CGC>CAC	p.R89H		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	89			R -> C (in AT3D; type-I).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)							OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.438776	122.374114	122.680443	43	55	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	172150456	172150456	14597	1	C	T	T	27	27	SERPINC1	T	1	1
PRG4	10216	broad.mit.edu	36	1	184547211	184547211	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184547211G>A	uc001gru.2	+	c.3653G>A	c.(3652-3654)CGT>CAT	p.R1218H	PRG4_uc001grt.2_Missense_Mutation_p.R1177H|PRG4_uc009wyl.1_Missense_Mutation_p.R1125H|PRG4_uc009wym.1_Missense_Mutation_p.R1084H	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	1218	Hemopexin-like 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity				0														0.378378	121.921586	123.362803	42	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	184547211	184547211	12924	1	G	A	A	40	40	PRG4	A	1	1
LHX9	56956	broad.mit.edu	36	1	196155871	196155871	+	Silent	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:196155871C>T	uc001guk.1	+	c.321C>T	c.(319-321)TCC>TCT	p.S107S	LHX9_uc001gui.1_Silent_p.S98S|LHX9_uc001guj.1_Silent_p.S113S	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	107	LIM zinc-binding 1.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(1)	1														0.492147	296.055773	296.065659	94	97	CC		KEEP	---	---	---	---	capture			Silent	SNP	196155871	196155871	9103	1	C	T	T	23	23	LHX9	T	1	1
SKI	6497	broad.mit.edu	36	1	2224652	2224652	+	Silent	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:2224652G>A	uc001aja.2	+	c.1164G>A	c.(1162-1164)GCG>GCA	p.A388A		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	388					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)					Ovarian(177;144 1678 13697 20086 27838 40755)								0.445312	171.046405	171.381163	57	71	GG		KEEP	---	---	---	---	capture		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	Silent	SNP	2224652	2224652	14852	1	G	A	A	37	37	SKI	A	1	1
OBSCN	84033	broad.mit.edu	36	1	226576357	226576357	+	Silent	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226576357G>A	uc009xez.1	+	c.15192G>A	c.(15190-15192)GCG>GCA	p.A5064A	OBSCN_uc001hsn.1_Silent_p.A5064A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5064					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.6	8.625167	8.668783	3	2	GG		KEEP	---	---	---	---	capture			Silent	SNP	226576357	226576357	11217	1	G	A	A	38	38	OBSCN	A	1	1
HIVEP3	59269	broad.mit.edu	36	1	41820617	41820617	+	Silent	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:41820617C>T	uc001cgz.2	-	c.2439G>A	c.(2437-2439)GAG>GAA	p.E813E	HIVEP3_uc001cha.2_Silent_p.E813E|HIVEP3_uc001cgy.1_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	813	Ser-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription activator activity|zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)												0.438596	76.063106	76.250867	25	32	CC		KEEP	---	---	---	---	capture			Silent	SNP	41820617	41820617	7479	1	C	T	T	28	28	HIVEP3	T	2	2
TACSTD2	4070	broad.mit.edu	36	1	58814448	58814448	+	Silent	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:58814448C>T	uc001cyz.2	-	c.969G>A	c.(967-969)TTG>TTA	p.L323L		NM_002353	NP_002344	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	323	Cytoplasmic (Potential).				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity				0	all_cancers(7;6.54e-05)													0.666667	17.951536	18.172447	6	3	CC		KEEP	---	---	---	---	capture			Silent	SNP	58814448	58814448	16029	1	C	T	T	17	17	TACSTD2	T	2	2
TGM6	343641	broad.mit.edu	36	20	2346198	2346198	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2346198G>A	uc002wfy.1	+	c.1657G>A	c.(1657-1659)GTG>ATG	p.V553M	TGM6_uc010gal.1_Missense_Mutation_p.V553M	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	553					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)	3					L-Glutamine(DB00130)									0.3125	12.875733	13.372952	5	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2346198	2346198	16362	20	G	A	A	40	40	TGM6	A	1	1
CHGB	1114	broad.mit.edu	36	20	5851871	5851871	+	Missense_Mutation	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:5851871C>T	uc002wmg.1	+	c.1081C>T	c.(1081-1083)CGC>TGC	p.R361C		NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	361						extracellular space	hormone activity			breast(3)|ovary(1)	4														0.267241	71.416634	77.067542	31	85	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5851871	5851871	3473	20	C	T	T	27	27	CHGB	T	1	1
SRMS	6725	broad.mit.edu	36	20	61649069	61649069	+	Silent	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61649069C>T	uc002yfi.1	-	c.192G>A	c.(190-192)GCG>GCA	p.A64A		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory	64	SH3.				protein phosphorylation		ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(1)	1	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)									557				0.274854	218.317086	233.868908	94	248	CC		KEEP	---	---	---	---	capture	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		Silent	SNP	61649069	61649069	15666	20	C	T	T	27	27	SRMS	T	1	1
IL18RAP	8807	broad.mit.edu	36	2	102406883	102406883	+	Missense_Mutation	SNP	G	T	T			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:102406883G>T	uc002tbx.1	+	c.251G>T	c.(250-252)TGG>TTG	p.W84L	IL18RAP_uc010fiz.1_Intron|IL18RAP_uc002tby.1_Missense_Mutation_p.W84L	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	84	Extracellular (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			ovary(2)	2														0.425532	57.729254	57.968405	20	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102406883	102406883	7949	2	G	T	T	47	47	IL18RAP	T	3	3
LRP2	4036	broad.mit.edu	36	2	169820885	169820885	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169820885G>A	uc002ues.1	-	c.2747C>T	c.(2746-2748)CCG>CTG	p.P916L		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	916	LDL-receptor class B 9.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23					Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.322034	53.106631	54.764854	19	40	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Missense_Mutation	SNP	169820885	169820885	9329	2	G	A	A	39	39	LRP2	A	1	1
TTN	7273	broad.mit.edu	36	2	179150357	179150357	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179150357G>A	uc002umr.1	-	c.61247C>T	c.(61246-61248)GCA>GTA	p.A20416V	TTN_uc002ums.1_Missense_Mutation_p.A14111V|TTN_uc010frc.1_Missense_Mutation_p.A14044V|TTN_uc010frd.1_Missense_Mutation_p.A13919V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21343										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153										8722				0.390244	43.688031	44.121477	16	25	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179150357	179150357	17290	2	G	A	A	46	46	TTN	A	2	2
MFF	56947	broad.mit.edu	36	2	227903665	227903665	+	Missense_Mutation	SNP	A	T	T			TCGA-19-5959-01	TCGA-19-5959-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:227903665A>T	uc002vos.1	+	c.118A>T	c.(118-120)ACT>TCT	p.T40S	MFF_uc002vot.1_Missense_Mutation_p.T14S|MFF_uc002vou.1_Missense_Mutation_p.T40S|MFF_uc002vov.1_Missense_Mutation_p.T14S|MFF_uc002vow.1_Missense_Mutation_p.T14S|MFF_uc002vox.1_Missense_Mutation_p.T14S|MFF_uc002voy.1_Missense_Mutation_p.T40S|MFF_uc002voz.1_Missense_Mutation_p.T14S	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	40	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane				large_intestine(1)	1														0.454545	31.548445	31.587904	10	12	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	227903665	227903665	9909	2	A	T	T	14	14	MFF	T	4	4
UGT1A10	54575	broad.mit.edu	36	2	234210272	234210272	+	Missense_Mutation	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234210272C>T	uc002vur.1	+	c.365C>T	c.(364-366)TCG>TTG	p.S122L	UGT1A8_uc002vup.1_Intron|UGT1A10_uc002vuq.2_Missense_Mutation_p.S122L	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN	UDP glycosyltransferase 1 family, polypeptide	122					flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding			ovary(2)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)												0.41573	114.622986	115.157393	37	52	CC		KEEP	---	---	---	---	capture		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Missense_Mutation	SNP	234210272	234210272	17503	2	C	T	T	31	31	UGT1A10	T	1	1
NEU4	129807	broad.mit.edu	36	2	242404380	242404380	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:242404380G>A	uc002wcn.1	+	c.62G>A	c.(61-63)CGG>CAG	p.R21Q	NEU4_uc002wcl.1_Non-coding_Transcript|NEU4_uc010fzr.1_Missense_Mutation_p.R9Q|NEU4_uc002wcm.1_Missense_Mutation_p.R9Q|NEU4_uc002wco.1_Missense_Mutation_p.R9Q|NEU4_uc002wcp.1_Missense_Mutation_p.R21Q	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN	sialidase 4	9						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)												0.4375	20.922309	20.976808	7	9	GG		KEEP	---	---	---	---	capture		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	Missense_Mutation	SNP	242404380	242404380	10743	2	G	A	A	39	39	NEU4	A	1	1
KIAA1524	57650	broad.mit.edu	36	3	109758931	109758931	+	Missense_Mutation	SNP	C	A	A			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:109758931C>A	uc003dxb.2	-	c.2034G>T	c.(2032-2034)ATG>ATT	p.M678I		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	678	Potential.					cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3														0.5	31.246756	31.246756	10	10	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	109758931	109758931	8548	3	C	A	A	17	17	KIAA1524	A	3	3
FBLN2	2199	broad.mit.edu	36	3	13645421	13645421	+	Missense_Mutation	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:13645421C>T	uc003bya.1	+	c.2585C>T	c.(2584-2586)ACG>ATG	p.T862M	FBLN2_uc003byb.1_Missense_Mutation_p.T815M	NM_001004019	NP_001004019	P98095	FBLN2_HUMAN	fibulin 2 isoform a precursor	863	EGF-like 6; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1														0.363636	11.521591	11.691137	4	7	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		Missense_Mutation	SNP	13645421	13645421	5935	3	C	T	T	19	19	FBLN2	T	1	1
FBLN2	2199	broad.mit.edu	36	3	13645487	13645487	+	Missense_Mutation	SNP	A	G	G			TCGA-19-5959-01	TCGA-19-5959-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:13645487A>G	uc003bya.1	+	c.2651A>G	c.(2650-2652)CAG>CGG	p.Q884R	FBLN2_uc003byb.1_Missense_Mutation_p.Q837R	NM_001004019	NP_001004019	P98095	FBLN2_HUMAN	fibulin 2 isoform a precursor	885	EGF-like 6; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1														0.5	15.174368	15.174368	5	5	AA		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		Missense_Mutation	SNP	13645487	13645487	5935	3	A	G	G	7	7	FBLN2	G	4	4
KCNH8	131096	broad.mit.edu	36	3	19550092	19550092	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:19550092G>A	uc003cbk.1	+	c.2821G>A	c.(2821-2823)GGG>AGG	p.G941R	KCNH8_uc010hex.1_Missense_Mutation_p.G402R	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	941	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity			ovary(1)	1						NSCLC(124;1625 1765 8018 24930 42026)								0.46	72.120952	72.190487	23	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19550092	19550092	8343	3	G	A	A	39	39	KCNH8	A	1	1
RTP3	83597	broad.mit.edu	36	3	46517297	46517297	+	Silent	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:46517297C>T	uc003cps.1	+	c.603C>T	c.(601-603)TAC>TAT	p.Y201Y		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	transmembrane protein 7	201	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			ovary(2)	2														0.423729	75.391407	75.684068	25	34	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	Silent	SNP	46517297	46517297	14215	3	C	T	T	19	19	RTP3	T	1	1
NT5DC2	64943	broad.mit.edu	36	3	52538332	52538332	+	Silent	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52538332G>A	uc003deo.1	-	c.180C>T	c.(178-180)AAC>AAT	p.N60N	NT5DC2_uc003dem.1_5'Flank|NT5DC2_uc003den.1_Silent_p.N26N|NT5DC2_uc010hmi.1_Silent_p.N26N|NT5DC2_uc010hmj.1_De_novo_Start_OutOfFrame	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2 isoform 2	60							hydrolase activity|metal ion binding				0														0.425	49.067625	49.263976	17	23	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	Silent	SNP	52538332	52538332	11096	3	G	A	A	40	40	NT5DC2	A	1	1
TXK	7294	broad.mit.edu	36	4	47764413	47764413	+	Nonstop_Mutation	SNP	A	T	T			TCGA-19-5959-01	TCGA-19-5959-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:47764413A>T	uc003gxx.2	-	c.1582T>A	c.(1582-1584)TGA>AGA	p.*528R	TXK_uc010igj.1_Non-coding_Transcript	NM_003328	NP_003319	P42681	TXK_HUMAN	TXK tyrosine kinase	528					protein phosphorylation	cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity				0										451				0.413462	132.536804	133.208092	43	61	AA		KEEP	---	---	---	---	capture			Nonstop_Mutation	SNP	47764413	47764413	17342	4	A	T	T	6	6	TXK	T	5	4
TMPRSS11F	389208	broad.mit.edu	36	4	68616935	68616935	+	Missense_Mutation	SNP	A	G	G			TCGA-19-5959-01	TCGA-19-5959-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:68616935A>G	uc003hdt.1	-	c.751T>C	c.(751-753)TGG>CGG	p.W251R	LOC550112_uc003hdl.2_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	251	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1														0.484848	42.29126	42.301591	16	17	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68616935	68616935	16784	4	A	G	G	5	5	TMPRSS11F	G	4	4
PCDHA7	56141	broad.mit.edu	36	5	140195602	140195602	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140195602G>A	uc003lhq.1	+	c.1450G>A	c.(1450-1452)GCG>ACG	p.A484T	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhp.1_Missense_Mutation_p.A484T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	484	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)	1						NSCLC(160;258 2013 5070 22440 28951)								0.391304	43.12222	43.602898	18	28	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140195602	140195602	11949	5	G	A	A	38	38	PCDHA7	A	1	1
DRD1	1812	broad.mit.edu	36	5	174801998	174801998	+	Silent	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:174801998G>A	uc003mcz.1	-	c.711C>T	c.(709-711)CAC>CAT	p.H237H	DRD1_uc010jjw.1_Silent_p.H237H	NM_000794	NP_000785	P21728	DRD1_HUMAN	dopamine receptor D1	237	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|dopamine metabolic process|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|regulation of dopamine uptake|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	protein binding			ovary(2)	2	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)			Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)									0.435484	81.238544	81.458395	27	35	GG		KEEP	---	---	---	---	capture	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Silent	SNP	174801998	174801998	4940	5	G	A	A	40	40	DRD1	A	1	1
CDH18	1016	broad.mit.edu	36	5	19538976	19538976	+	Splice_Site_SNP	SNP	C	G	G			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:19538976C>G	uc003jgc.1	-	c.1513_splice	c.e10-1	p.V505_splice	CDH18_uc003jgd.1_Splice_Site_SNP_p.V505_splice|CDH18_uc010iua.1_Splice_Site_SNP_p.V505_splice|CDH18_uc010itz.1_Splice_Site_SNP_p.V505_splice	NM_004934	NP_004925			cadherin 18, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.555556	85.882374	86.003883	25	20	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	19538976	19538976	3232	5	C	G	G	24	24	CDH18	G	5	3
CDH12	1010	broad.mit.edu	36	5	22114443	22114443	+	Nonsense_Mutation	SNP	C	A	A			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:22114443C>A	uc010iuc.1	-	c.100G>T	c.(100-102)GAG>TAG	p.E34*	CDH12_uc003jgk.1_Nonsense_Mutation_p.E34*	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	34					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.419118	165.044054	165.822325	57	79	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	22114443	22114443	3227	5	C	A	A	32	32	CDH12	A	5	3
CDH9	1007	broad.mit.edu	36	5	26917383	26917383	+	Silent	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:26917383G>A	uc003jgs.1	-	c.1989C>T	c.(1987-1989)GGC>GGT	p.G663G		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	663	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)	5						Melanoma(8;187 585 15745 40864 52829)								0.387387	115.40663	116.636788	43	68	GG		KEEP	---	---	---	---	capture			Silent	SNP	26917383	26917383	3246	5	G	A	A	38	38	CDH9	A	1	1
UGT3A2	167127	broad.mit.edu	36	5	36071745	36071745	+	Missense_Mutation	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:36071745C>T	uc003jjz.1	-	c.1384G>A	c.(1384-1386)GTC>ATC	p.V462I	UGT3A1_uc003jjx.1_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide	462	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|large_intestine(1)|pancreas(1)	4	all_lung(31;0.000179)													0.5	22.798419	22.798419	8	8	CC		KEEP	---	---	---	---	capture	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Missense_Mutation	SNP	36071745	36071745	17522	5	C	T	T	19	19	UGT3A2	T	1	1
FAM184A	79632	broad.mit.edu	36	6	119343114	119343114	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:119343114G>A	uc003pyj.1	-	c.2189C>T	c.(2188-2190)ACG>ATG	p.T730M	FAM184A_uc003pyk.2_Missense_Mutation_p.T610M|FAM184A_uc003pyl.2_Missense_Mutation_p.T610M	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	730	Potential.									ovary(2)|central_nervous_system(2)|pancreas(1)	5														0.452381	56.319654	56.402629	19	23	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119343114	119343114	5718	6	G	A	A	40	40	FAM184A	A	1	1
EEF1A1	1915	broad.mit.edu	36	6	74285809	74285809	+	Missense_Mutation	SNP	A	G	G			TCGA-19-5959-01	TCGA-19-5959-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:74285809A>G	uc003phi.1	-	c.296T>C	c.(295-297)ATC>ACC	p.I99T	EEF1A1_uc003phd.1_5'Flank|EEF1A1_uc003phe.1_Missense_Mutation_p.I99T|EEF1A1_uc003phf.1_Missense_Mutation_p.I99T|EEF1A1_uc003phg.1_Missense_Mutation_p.I99T|EEF1A1_uc003phh.1_Intron|EEF1A1_uc003phj.1_Missense_Mutation_p.I99T|EEF1A1_uc003phk.1_Missense_Mutation_p.I99T|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha	99						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0												OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.407407	107.045059	107.655094	33	48	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74285809	74285809	5110	6	A	G	G	12	12	EEF1A1	G	4	4
BACH2	60468	broad.mit.edu	36	6	90717587	90717587	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:90717587G>A	uc003pnv.1	-	c.959C>T	c.(958-960)CCC>CTC	p.P320L	BACH2_uc003pnw.1_Missense_Mutation_p.P320L|BACH2_uc010kch.1_Missense_Mutation_p.P320L	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	320					regulation of transcription, DNA-dependent	nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|lung(1)|pancreas(1)	5		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)												0.535714	49.52723	49.558326	15	13	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0799)	Missense_Mutation	SNP	90717587	90717587	1305	6	G	A	A	43	43	BACH2	A	2	2
RELN	5649	broad.mit.edu	36	7	102993112	102993112	+	Missense_Mutation	SNP	A	G	G			TCGA-19-5959-01	TCGA-19-5959-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102993112A>G	uc003vca.1	-	c.5059T>C	c.(5059-5061)TCT>CCT	p.S1687P	RELN_uc010liz.1_Missense_Mutation_p.S1687P	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1687	BNR 7.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14						NSCLC(146;835 1944 15585 22231 52158)								0.44	38.122819	38.201066	11	14	AA		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Missense_Mutation	SNP	102993112	102993112	13689	7	A	G	G	9	9	RELN	G	4	4
RELN	5649	broad.mit.edu	36	7	103125587	103125587	+	Silent	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:103125587G>A	uc003vca.1	-	c.1092C>T	c.(1090-1092)CTC>CTT	p.L364L	RELN_uc010liz.1_Silent_p.L364L	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	364					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14						NSCLC(146;835 1944 15585 22231 52158)								0.349515	104.589979	106.638499	36	67	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Silent	SNP	103125587	103125587	13689	7	G	A	A	37	37	RELN	A	1	1
CNTNAP2	26047	broad.mit.edu	36	7	146456832	146456832	+	Missense_Mutation	SNP	A	G	G			TCGA-19-5959-01	TCGA-19-5959-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:146456832A>G	uc003weu.1	+	c.1054A>G	c.(1054-1056)AGA>GGA	p.R352G		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	352	Laminin G-like 1.|Extracellular (Potential).				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)												0.244275	84.534093	92.340811	32	99	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Missense_Mutation	SNP	146456832	146456832	3785	7	A	G	G	7	7	CNTNAP2	G	4	4
REPIN1	29803	broad.mit.edu	36	7	149700775	149700775	+	Silent	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:149700775G>A	uc010lpr.1	+	c.1683G>A	c.(1681-1683)TCG>TCA	p.S561S	REPIN1_uc003whd.2_Silent_p.S493S|REPIN1_uc010lpq.1_Silent_p.S504S|REPIN1_uc003whc.2_Silent_p.S504S|REPIN1_uc003whe.2_Silent_p.S504S	NM_001099695	NP_001093165	Q9BWE0	REPI1_HUMAN	replication initiator 1 isoform 3	504	C2H2-type 13.				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			pancreas(1)	1	Ovarian(565;0.183)|Melanoma(164;0.226)													0.457143	41.918689	41.970391	16	19	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.011)		Silent	SNP	149700775	149700775	13696	7	G	A	A	38	38	REPIN1	A	1	1
TTYH3	80727	broad.mit.edu	36	7	2654213	2654213	+	Missense_Mutation	SNP	G	T	T			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:2654213G>T	uc003smp.1	+	c.721G>T	c.(721-723)GGG>TGG	p.G241W	TTYH3_uc010ksn.1_Intron|TTYH3_uc003smq.1_Missense_Mutation_p.G70W	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	tweety 3	241	Helical; Name=4; (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0		Ovarian(82;0.0112)												0.375	66.380841	67.259933	24	40	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	Missense_Mutation	SNP	2654213	2654213	17296	7	G	T	T	43	43	TTYH3	T	3	3
MGC26647	219557	broad.mit.edu	36	7	88261601	88261601	+	Missense_Mutation	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:88261601C>T	uc003ujv.1	-	c.592G>A	c.(592-594)GAT>AAT	p.D198N	ZNF804B_uc003uju.1_Intron|MGC26647_uc010lel.1_Missense_Mutation_p.D198N	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	hypothetical protein LOC219557	198											0	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)													0.372549	110.096984	111.561653	38	64	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.229)		Missense_Mutation	SNP	88261601	88261601	9940	7	C	T	T	31	31	MGC26647	T	1	1
HAS2	3037	broad.mit.edu	36	8	122710624	122710624	+	Silent	SNP	A	G	G			TCGA-19-5959-01	TCGA-19-5959-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:122710624A>G	uc003yph.2	-	c.138T>C	c.(136-138)TTT>TTC	p.F46F		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	46	Helical; Name=2; (Potential).					integral to plasma membrane	hyaluronan synthase activity			ovary(5)	5	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)													0.359649	131.780949	133.742068	41	73	AA		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00503)		Silent	SNP	122710624	122710624	7244	8	A	G	G	5	5	HAS2	G	4	4
TEX15	56154	broad.mit.edu	36	8	30820714	30820714	+	Nonsense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:30820714G>A	uc003xil.1	-	c.5362C>T	c.(5362-5364)CGA>TGA	p.R1788*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1788										ovary(3)	3														0.53125	53.178099	53.205498	17	15	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	Nonsense_Mutation	SNP	30820714	30820714	16306	8	G	A	A	40	40	TEX15	A	5	1
DPY19L4	286148	broad.mit.edu	36	8	95861819	95861819	+	Silent	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:95861819G>A	uc003ygx.2	+	c.1632G>A	c.(1630-1632)GAG>GAA	p.E544E		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	544						integral to membrane				ovary(2)	2	Breast(36;3.85e-06)													0.454545	32.146989	32.186659	10	12	GG		KEEP	---	---	---	---	capture			Silent	SNP	95861819	95861819	4927	8	G	A	A	35	35	DPY19L4	A	2	2
C9orf98	158067	broad.mit.edu	36	9	134692211	134692211	+	Missense_Mutation	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134692211C>T	uc004cbu.1	-	c.608G>A	c.(607-609)CGT>CAT	p.R203H	C9orf98_uc010mzx.1_Missense_Mutation_p.R31H|C9orf98_uc004cbv.1_5'UTR	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	putative adenylate kinase-like protein C9orf98	203						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0														0.383648	177.76373	179.64105	61	98	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)	Missense_Mutation	SNP	134692211	134692211	2625	9	C	T	T	19	19	C9orf98	T	1	1
CACNA1B	774	broad.mit.edu	36	9	140001059	140001059	+	Missense_Mutation	SNP	A	G	G			TCGA-19-5959-01	TCGA-19-5959-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:140001059A>G	uc004cog.1	+	c.1906A>G	c.(1906-1908)AAC>GAC	p.N636D	CACNA1B_uc004coh.1_Missense_Mutation_p.N238D	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	636	Extracellular (Potential).|II.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)				Amlodipine(DB00381)|Gabapentin(DB00996)									0.45283	133.219722	133.431905	48	58	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Missense_Mutation	SNP	140001059	140001059	2655	9	A	G	G	5	5	CACNA1B	G	4	4
CTSL2	1515	broad.mit.edu	36	9	98839370	98839370	+	Silent	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:98839370C>T	uc004awt.1	-	c.381G>A	c.(379-381)ACG>ACA	p.T127T	CTSL2_uc010msi.1_Silent_p.T127T|CTSL2_uc004awu.1_Silent_p.T72T|CTSL2_uc010msj.1_Silent_p.T72T|CTSL2_uc010msk.1_Silent_p.T72T	NM_001333	NP_001324	O60911	CATL2_HUMAN	cathepsin L2 preproprotein	127						lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(62;0.0559)								95				0.447368	48.494378	48.581475	17	21	CC		KEEP	---	---	---	---	capture			Silent	SNP	98839370	98839370	4198	9	C	T	T	27	27	CTSL2	T	1	1
AIFM1	9131	broad.mit.edu	36	X	129100324	129100324	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:129100324G>A	uc004evg.1	-	c.892C>T	c.(892-894)CGG>TGG	p.R298W	AIFM1_uc004evh.1_Missense_Mutation_p.R294W|AIFM1_uc004evi.1_Intron|AIFM1_uc004evj.1_Non-coding_Transcript|AIFM1_uc004evk.1_Non-coding_Transcript|AIFM1_uc004evf.1_5'Flank	NM_004208	NP_004199	O95831	AIFM1_HUMAN	programmed cell death 8 isoform 1	298	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|oxidation-reduction process	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			ovary(4)|central_nervous_system(1)	5										210				0.375	67.20406	68.073988	24	40	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129100324	129100324	429	23	G	A	A	40	40	AIFM1	A	1	1
GPR112	139378	broad.mit.edu	36	X	135259441	135259441	+	Silent	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:135259441C>T	uc004ezu.1	+	c.5910C>T	c.(5908-5910)GAC>GAT	p.D1970D	GPR112_uc010nsb.1_Silent_p.D1765D|GPR112_uc010nsc.1_Silent_p.D1737D	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1970	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)								p.D1970D(DMS114-Tumor)	487				0.438095	138.948948	139.29662	46	59	CC		KEEP	---	---	---	---	capture			Silent	SNP	135259441	135259441	6903	23	C	T	T	19	19	GPR112	T	1	1
SRPK3	26576	broad.mit.edu	36	X	152702405	152702405	+	Missense_Mutation	SNP	C	A	A			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152702405C>A	uc004fik.1	+	c.977C>A	c.(976-978)ACC>AAC	p.T326N	SRPK3_uc004fil.1_Missense_Mutation_p.T260N|SRPK3_uc004fim.1_Missense_Mutation_p.T259N|SRPK3_uc010nul.1_Missense_Mutation_p.T217N|SRPK3_uc004fin.1_Missense_Mutation_p.T259N	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	SFRS protein kinase 3	260	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development|protein phosphorylation		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					Esophageal Squamous(167;766 3400 32156)				307				0.217391	10.358366	12.057157	5	18	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152702405	152702405	15675	23	C	A	A	18	18	SRPK3	A	3	3
ZRSR2	8233	broad.mit.edu	36	X	15751047	15751047	+	Missense_Mutation	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:15751047G>A	uc004cxg.2	+	c.1210G>A	c.(1210-1212)GGG>AGG	p.G404R		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 2	404					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)	3	Hepatocellular(33;0.183)					NSCLC(197;1631 3042 5741 31152)								0.241379	18.936741	20.688265	7	22	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15751047	15751047	18829	23	G	A	A	43	43	ZRSR2	A	2	2
FTHL17	53940	broad.mit.edu	36	X	30999857	30999857	+	Silent	SNP	G	A	A			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:30999857G>A	uc004dcl.1	-	c.135C>T	c.(133-135)GAC>GAT	p.D45D		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	45	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|oxidation-reduction process		ferric iron binding|oxidoreductase activity				0														0.425	94.925301	95.319662	34	46	GG		KEEP	---	---	---	---	capture			Silent	SNP	30999857	30999857	6334	23	G	A	A	40	40	FTHL17	A	1	1
IQSEC2	23096	broad.mit.edu	36	X	53300727	53300727	+	Missense_Mutation	SNP	G	T	T			TCGA-19-5959-01	TCGA-19-5959-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53300727G>T	uc004dsd.1	-	c.1111C>A	c.(1111-1113)CGC>AGC	p.R371S	IQSEC2_uc004dsc.1_Missense_Mutation_p.R166S	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	361	IQ.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3														0.375	6.823191	6.93256	3	5	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53300727	53300727	8121	23	G	T	T	40	40	IQSEC2	T	3	3
FAM155B	27112	broad.mit.edu	36	X	68642458	68642458	+	Missense_Mutation	SNP	C	T	T			TCGA-19-5959-01	TCGA-19-5959-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:68642458C>T	uc004dxk.1	+	c.608C>T	c.(607-609)ACG>ATG	p.T203M		NM_015686	NP_056501	O75949	F155B_HUMAN	transmembrane protein 28	203						integral to membrane				ovary(1)|breast(1)	2														0.342105	32.430726	33.283215	13	25	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68642458	68642458	5664	23	C	T	T	19	19	FAM155B	T	1	1
PTEN	5728	broad.mit.edu	36	10	89682790	89682790	+	Frame_Shift_Del	DEL	A	-	-			TCGA-19-5959-01	TCGA-19-5959-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:89682790_89682790delA	uc001kfb.1	+	c.294_294delA	c.(292-294)CTAfs	p.L98fs		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	98	Phosphatase tensin-type.				apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of cyclin-dependent protein kinase activity|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Y27_N212>Y(2)|p.H93fs*5(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(654)|skin(119)|haematopoietic_and_lymphoid_tissue(101)|prostate(97)|large_intestine(90)|breast(67)|lung(63)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(21)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(12)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2308		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)				31		264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.84			37	7				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	89682790	89682790	13192	10	A	-	-	15	15	PTEN	-	5	5
CCDC88A	55704	broad.mit.edu	36	2	55417324	55417325	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-19-5959-01	TCGA-19-5959-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:55417324_55417325delTC	uc002ryv.1	-	c.1652_1653delGA	c.(1651-1653)AGAfs	p.R551fs	CCDC88A_uc002ryr.1_Frame_Shift_Del_p.R551fs|CCDC88A_uc002ryu.1_5'Flank|CCDC88A_uc002ryw.2_5'Flank	NM_018084	NP_060554	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 2	551	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)	2														0.41			13	19				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	55417324	55417325	2988	2	TC	-	-	58	58	CCDC88A	-	5	5
SMYD5	10322	broad.mit.edu	36	2	73306517	73306519	+	In_Frame_Del	DEL	GAG	-	-			TCGA-19-5959-01	TCGA-19-5959-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73306517_73306519delGAG	uc002siw.2	+	c.1192_1194delGAG	c.(1192-1194)GAGdel	p.E403del	SMYD5_uc002six.1_Non-coding_Transcript	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	403	Glu-rich.						metal ion binding				0														0.47			21	24				---	---	---	---	capture_indel			In_Frame_Del	DEL	73306517	73306519	15325	2	GAG	-	-	33	33	SMYD5	-	5	5
SCARB2	950	broad.mit.edu	36	4	77321276	77321279	+	Splice_Site_Del	DEL	TCCC	-	-			TCGA-19-5959-01	TCGA-19-5959-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:77321276_77321279delTCCC	uc003hju.1	-	c.e3_splice_site				NM_005506	NP_005497			scavenger receptor class B, member 2						cell adhesion	integral to plasma membrane|lysosomal membrane|membrane fraction	protein binding|receptor activity				0			Lung(101;0.196)											0.33			13	26				---	---	---	---	capture_indel			Splice_Site_Del	DEL	77321276	77321279	14363	4	TCCC	-	-	62	62	SCARB2	-	5	5
MAN2A1	4124	broad.mit.edu	36	5	109153094	109153094	+	Frame_Shift_Del	DEL	A	-	-			TCGA-19-5959-01	TCGA-19-5959-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:109153094_109153094delA	uc003kou.1	+	c.1910_1910delA	c.(1909-1911)CAAfs	p.Q637fs		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	637	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)										0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	109153094	109153094	9597	5	A	-	-	5	5	MAN2A1	-	5	5
SSPO	23145	broad.mit.edu	36	7	149134850	149134853	+	Splice_Site_Del	DEL	GATA	-	-			TCGA-19-5959-01	TCGA-19-5959-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149134850_149134853delGATA	uc010lpk.1	+	c.e60_splice_site				NM_198455	NP_940857			SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)											0.64			9	5				---	---	---	---	capture_indel			Splice_Site_Del	DEL	149134850	149134853	15705	7	GATA	-	-	41	41	SSPO	-	5	5
