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
CUBN	8029	broad.mit.edu	36	10	17186597	17186597	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:17186597C>T	uc001ioo.1	-	c.1244G>A	c.(1243-1245)GGT>GAT	p.G415D		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin	415	EGF-like 6.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)					2704				0.470588	25.398495	25.411329	8	9	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17186597	17186597	4211	10	C	T	T	18	18	CUBN	T	2	2
TMEM26	219623	broad.mit.edu	36	10	62840503	62840503	+	Missense_Mutation	SNP	G	T	T			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:62840503G>T	uc001jlo.1	-	c.690C>A	c.(688-690)AAC>AAA	p.N230K	TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	230						integral to membrane					0	Prostate(12;0.0112)													0.580645	56.817975	56.989212	18	13	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62840503	62840503	16690	10	G	T	T	40	40	TMEM26	T	3	3
PTEN	5728	broad.mit.edu	36	10	89715022	89715022	+	Splice_Site_SNP	SNP	A	G	G			TCGA-12-3649-01	TCGA-12-3649-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89715022A>G	uc001kfb.1	+	c.1027_splice	c.e10-2	p.V343_splice		NM_000314	NP_000305			phosphatase and tensin homolog						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.?(6)		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)						31	(HSC4-Tumor)	264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.612903	70.52827	70.874177	19	12	AA		KEEP	---	---	---	---	capture	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)	Splice_Site_SNP	SNP	89715022	89715022	13192	10	A	G	G	15	15	PTEN	G	5	4
OR8A1	390275	broad.mit.edu	36	11	123945878	123945878	+	Missense_Mutation	SNP	C	A	A			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:123945878C>A	uc001qag.1	+	c.704C>A	c.(703-705)ACC>AAC	p.T235N		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A,	235	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)												0.377193	125.701959	127.208772	43	71	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	Missense_Mutation	SNP	123945878	123945878	11636	11	C	A	A	18	18	OR8A1	A	3	3
CHRNA10	57053	broad.mit.edu	36	11	3644219	3644219	+	Silent	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:3644219G>A	uc001lyf.1	-	c.1047C>T	c.(1045-1047)TGC>TGT	p.C349C		NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	349	Cytoplasmic (Potential).				regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)			Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	Melanoma(153;17 1869 2949 7120 36888)								0.246914	47.357415	52.083066	20	61	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Silent	SNP	3644219	3644219	3516	11	G	A	A	38	38	CHRNA10	A	1	1
OR52I2	143502	broad.mit.edu	36	11	4564844	4564844	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4564844G>A	uc001lzd.1	+	c.226G>A	c.(226-228)GTG>ATG	p.V76M		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I,	76	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)												0.285714	230.9838	243.094813	84	210	GG		KEEP	---	---	---	---	capture		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	4564844	4564844	11531	11	G	A	A	40	40	OR52I2	A	1	1
OR52H1	390067	broad.mit.edu	36	11	5523299	5523299	+	Missense_Mutation	SNP	T	G	G			TCGA-12-3649-01	TCGA-12-3649-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5523299T>G	uc001mba.1	-	c.31A>C	c.(31-33)AAC>CAC	p.N11H	HBG2_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)												0.318966	121.737789	125.114223	37	79	TT		KEEP	---	---	---	---	capture		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	5523299	5523299	11529	11	T	G	G	63	63	OR52H1	G	4	4
TRIM6-TRIM34	445372	broad.mit.edu	36	11	5587982	5587982	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5587982G>A	uc001mbf.1	+	c.889G>A	c.(889-891)GCT>ACT	p.A297T	HBG2_uc001mak.1_Intron|TRIM6_uc001mbc.1_Missense_Mutation_p.A269T|TRIM6_uc009yeo.1_Missense_Mutation_p.A243T|TRIM6_uc001mbe.1_Missense_Mutation_p.A94T|TRIM6_uc001mbd.1_Missense_Mutation_p.A297T|TRIM6_uc001mbg.1_Missense_Mutation_p.A94T|TRIM6_uc009yep.1_Missense_Mutation_p.A94T	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	297						intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)												0.333333	77.742922	79.652429	26	52	GG		KEEP	---	---	---	---	capture		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	Missense_Mutation	SNP	5587982	5587982	17080	11	G	A	A	34	34	TRIM6-TRIM34	A	2	2
MTNR1B	4544	broad.mit.edu	36	11	92354349	92354349	+	Silent	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:92354349C>T	uc001pdk.1	+	c.312C>T	c.(310-312)GAC>GAT	p.D104D		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	104	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)									0.410526	351.341944	353.328579	117	168	CC		KEEP	---	---	---	---	capture			Silent	SNP	92354349	92354349	10345	11	C	T	T	19	19	MTNR1B	T	1	1
GCN1L1	10985	broad.mit.edu	36	12	119084150	119084150	+	Silent	SNP	A	T	T			TCGA-12-3649-01	TCGA-12-3649-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:119084150A>T	uc001txo.1	-	c.2259T>A	c.(2257-2259)CCT>CCA	p.P753P		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	753					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(3)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.333333	89.620311	91.834211	30	60	AA		KEEP	---	---	---	---	capture			Silent	SNP	119084150	119084150	6565	12	A	T	T	7	7	GCN1L1	T	4	4
PLEKHA5	54477	broad.mit.edu	36	12	19327864	19327864	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:19327864G>A	uc001rea.1	+	c.1679G>A	c.(1678-1680)CGA>CAA	p.R560Q	PLEKHA5_uc001reb.1_Missense_Mutation_p.R560Q|PLEKHA5_uc009zin.1_Missense_Mutation_p.R318Q|PLEKHA5_uc001rec.1_Missense_Mutation_p.R248Q	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	560							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					Pancreas(196;329 2193 11246 14234 19524)				873				0.35443	83.197849	84.664203	28	51	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19327864	19327864	12485	12	G	A	A	37	37	PLEKHA5	A	1	1
ANO2	57101	broad.mit.edu	36	12	5542803	5542803	+	Missense_Mutation	SNP	C	G	G			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:5542803C>G	uc001qnm.1	-	c.2923G>C	c.(2923-2925)GCA>CCA	p.A975P		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	979	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7														0.571429	10.292501	10.322913	4	3	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5542803	5542803	705	12	C	G	G	26	26	ANO2	G	3	3
ZFC3H1	196441	broad.mit.edu	36	12	70316683	70316683	+	Missense_Mutation	SNP	C	G	G			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:70316683C>G	uc001swo.1	-	c.1954G>C	c.(1954-1956)GAC>CAC	p.D652H		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	652					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4														0.357143	167.60826	170.126163	50	90	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70316683	70316683	18221	12	C	G	G	29	29	ZFC3H1	G	3	3
TUBA3C	7278	broad.mit.edu	36	13	18649200	18649200	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:18649200C>T	uc009zzj.1	-	c.923G>A	c.(922-924)CGC>CAC	p.R308H		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	308					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)	3		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)												0.355263	226.00785	230.21738	81	147	CC		KEEP	---	---	---	---	capture		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	Missense_Mutation	SNP	18649200	18649200	17301	13	C	T	T	27	27	TUBA3C	T	1	1
KLHL1	57626	broad.mit.edu	36	13	69579809	69579809	+	Missense_Mutation	SNP	G	T	T			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:69579809G>T	uc001vip.1	-	c.24C>A	c.(22-24)GAC>GAA	p.D8E	ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	8					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)												0.304348	39.933745	41.504248	14	32	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	Missense_Mutation	SNP	69579809	69579809	8677	13	G	T	T	36	36	KLHL1	T	3	3
JAG2	3714	broad.mit.edu	36	14	104683878	104683878	+	Silent	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104683878G>A	uc001yqg.1	-	c.2598C>T	c.(2596-2598)ATC>ATT	p.I866I	JAG2_uc010axf.1_5'UTR|JAG2_uc001yqf.1_Silent_p.I270I|JAG2_uc001yqh.1_Silent_p.I828I	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	866	Extracellular (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			lung(3)	3		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)								501				0.477273	130.232897	130.273032	42	46	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	Silent	SNP	104683878	104683878	8239	14	G	A	A	37	37	JAG2	A	1	1
JAG2	3714	broad.mit.edu	36	14	104689064	104689064	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104689064G>A	uc001yqg.1	-	c.1097C>T	c.(1096-1098)CCG>CTG	p.P366L	JAG2_uc001yqf.1_5'Flank|JAG2_uc001yqh.1_Missense_Mutation_p.P366L	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	366	EGF-like 4.|Extracellular (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			lung(3)	3		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)								501				0.4	30.441545	30.660922	10	15	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	Missense_Mutation	SNP	104689064	104689064	8239	14	G	A	A	39	39	JAG2	A	1	1
NKX2-1	7080	broad.mit.edu	36	14	36058090	36058090	+	Missense_Mutation	SNP	A	C	C			TCGA-12-3649-01	TCGA-12-3649-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:36058090A>C	uc001wtu.1	-	c.314T>G	c.(313-315)GTG>GGG	p.V105G	SFTA3_uc001wts.1_Intron|NKX2-1_uc001wtt.1_Missense_Mutation_p.V75G|NKX2-1_uc001wtv.1_Missense_Mutation_p.V75G	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	thyroid transcription factor 1 isoform 1	75					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		promoter binding|protein binding|transcription activator activity			skin(1)	1	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)									15				0.5	7.737455	7.737455	5	5	AA		KEEP	---	---	---	---	capture	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	Missense_Mutation	SNP	36058090	36058090	10851	14	A	C	C	6	6	NKX2-1	C	4	4
SIPA1L1	26037	broad.mit.edu	36	14	71125567	71125567	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:71125567G>A	uc001xms.1	+	c.1225G>A	c.(1225-1227)GAG>AAG	p.E409K	SIPA1L1_uc001xmt.1_Missense_Mutation_p.E409K|SIPA1L1_uc001xmu.1_Missense_Mutation_p.E409K|SIPA1L1_uc001xmv.1_Missense_Mutation_p.E409K	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	409					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4														0.45977	121.389446	121.512239	40	47	GG		KEEP	---	---	---	---	capture		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	Missense_Mutation	SNP	71125567	71125567	14824	14	G	A	A	45	45	SIPA1L1	A	2	2
CALM1	801	broad.mit.edu	36	14	89940603	89940603	+	Missense_Mutation	SNP	A	G	G			TCGA-12-3649-01	TCGA-12-3649-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:89940603A>G	uc010atq.1	+	c.416A>G	c.(415-417)AAC>AGC	p.N139S	CALM1_uc001xyl.1_Missense_Mutation_p.N138S|CALM1_uc010atr.1_Non-coding_Transcript|CALM1_uc001xym.1_Missense_Mutation_p.N102S	NM_006888	NP_008819	P62158	CALM_HUMAN	calmodulin 1	138	4.|EF-hand 4.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)	1		all_cancers(154;0.13)			Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)									0.338462	72.731645	74.230712	22	43	AA		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.208)	Missense_Mutation	SNP	89940603	89940603	2701	14	A	G	G	2	2	CALM1	G	4	4
PPP4R4	57718	broad.mit.edu	36	14	93769816	93769816	+	Nonsense_Mutation	SNP	T	A	A			TCGA-12-3649-01	TCGA-12-3649-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93769816T>A	uc001ycs.1	+	c.590T>A	c.(589-591)TTA>TAA	p.L197*		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	197						cytoplasm|protein serine/threonine phosphatase complex	protein binding				0														0.363636	164.55958	167.078413	56	98	TT		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	93769816	93769816	12841	14	T	A	A	61	61	PPP4R4	A	5	4
SERPINA11	256394	broad.mit.edu	36	14	93979296	93979296	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93979296G>A	uc001ydd.1	-	c.937C>T	c.(937-939)CCA>TCA	p.P313S		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	313					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1														0.397959	113.80025	114.694328	39	59	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.211)	Missense_Mutation	SNP	93979296	93979296	14576	14	G	A	A	42	42	SERPINA11	A	2	2
SLC27A2	11001	broad.mit.edu	36	15	48282123	48282123	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:48282123G>A	uc001zxw.1	+	c.836G>A	c.(835-837)TGT>TAT	p.C279Y	SLC27A2_uc010bes.1_Intron|SLC27A2_uc001zxx.1_Missense_Mutation_p.C44Y	NM_003645	NP_003636	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid	279	Helical; (Potential).				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			ovary(1)	1		all_lung(180;0.00177)												0.378788	216.569512	219.124791	75	123	GG		KEEP	---	---	---	---	capture		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	Missense_Mutation	SNP	48282123	48282123	15023	15	G	A	A	48	48	SLC27A2	A	2	2
BLM	641	broad.mit.edu	36	15	89113765	89113765	+	Missense_Mutation	SNP	A	T	T			TCGA-12-3649-01	TCGA-12-3649-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:89113765A>T	uc002bpr.1	+	c.2500A>T	c.(2500-2502)AAT>TAT	p.N834Y	BLM_uc010bnx.1_Missense_Mutation_p.N834Y|BLM_uc002bps.1_Missense_Mutation_p.N396Y	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	834	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)	3	Lung NSC(78;0.0875)|all_lung(78;0.109)									462				0.420561	133.257357	133.846413	45	62	AA		KEEP	---	---	---	---	capture	Lung(145;0.189)		Missense_Mutation	SNP	89113765	89113765	1470	15	A	T	T	13	13	BLM	T	4	4
CDH16	1014	broad.mit.edu	36	16	65507523	65507523	+	Missense_Mutation	SNP	G	T	T			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65507523G>T	uc002eql.1	-	c.370C>A	c.(370-372)CCC>ACC	p.P124T	CDH16_uc010cdy.1_Missense_Mutation_p.P124T|CDH16_uc002eqm.1_Intron	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	124	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2		Ovarian(137;0.0563)												0.411765	97.810321	98.387235	35	50	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	Missense_Mutation	SNP	65507523	65507523	3230	16	G	T	T	42	42	CDH16	T	3	3
PHLPP2	23035	broad.mit.edu	36	16	70281960	70281960	+	Missense_Mutation	SNP	G	C	C			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:70281960G>C	uc002fax.1	-	c.572C>G	c.(571-573)ACT>AGT	p.T191S	PHLPP2_uc010cgf.1_Missense_Mutation_p.T191S|PHLPP2_uc002fay.1_Missense_Mutation_p.T191S	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	191	PH.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)	1														0.103448	16.809135	34.971949	12	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70281960	70281960	12279	16	G	C	C	36	36	PHLPP2	C	3	3
MYH3	4621	broad.mit.edu	36	17	10474373	10474373	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10474373G>A	uc002gmq.1	-	c.5414C>T	c.(5413-5415)GCG>GTG	p.A1805V		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1805	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(1)|pancreas(1)	6														0.316129	127.730999	132.386326	49	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10474373	10474373	10431	17	G	A	A	38	38	MYH3	A	1	1
RILP	83547	broad.mit.edu	36	17	1499267	1499267	+	Missense_Mutation	SNP	G	T	T			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:1499267G>T	uc002ftd.1	-	c.406C>A	c.(406-408)CAG>AAG	p.Q136K		NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	136	Potential.				endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			ovary(1)	1														0.5	6.549925	6.549925	2	2	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Missense_Mutation	SNP	1499267	1499267	13835	17	G	T	T	46	46	RILP	T	3	3
ANKRD13B	124930	broad.mit.edu	36	17	24963329	24963329	+	Silent	SNP	T	A	A			TCGA-12-3649-01	TCGA-12-3649-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24963329T>A	uc002hei.1	+	c.1170T>A	c.(1168-1170)ATT>ATA	p.I390I	ANKRD13B_uc002heh.1_Silent_p.I258I|ANKRD13B_uc002hej.2_Non-coding_Transcript|ANKRD13B_uc002hek.1_5'Flank	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	390											0														0.352	125.100835	127.498333	44	81	TT		KEEP	---	---	---	---	capture			Silent	SNP	24963329	24963329	645	17	T	A	A	63	63	ANKRD13B	A	4	4
MEP1B	4225	broad.mit.edu	36	18	28041378	28041378	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:28041378G>A	uc002kxj.2	+	c.713G>A	c.(712-714)CGA>CAA	p.R238Q		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A, beta	238	Extracellular (Potential).|Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2														0.358974	42.138908	42.822041	14	25	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28041378	28041378	9865	18	G	A	A	37	37	MEP1B	A	1	1
CBLN2	147381	broad.mit.edu	36	18	68360223	68360223	+	Silent	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:68360223C>T	uc002lku.2	-	c.153G>A	c.(151-153)GCG>GCA	p.A51A	CBLN2_uc002lkv.2_Silent_p.A51A	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	51						integral to membrane					0		Esophageal squamous(42;0.131)												0.444444	24.603639	24.650863	8	10	CC		KEEP	---	---	---	---	capture			Silent	SNP	68360223	68360223	2824	18	C	T	T	27	27	CBLN2	T	1	1
CPAMD8	27151	broad.mit.edu	36	19	16947956	16947956	+	Silent	SNP	T	C	C			TCGA-12-3649-01	TCGA-12-3649-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16947956T>C	uc002nfb.1	-	c.1905A>G	c.(1903-1905)TCA>TCG	p.S635S		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	588						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)	12										1067				0.179104	23.456617	29.951754	12	55	TT		KEEP	---	---	---	---	capture			Silent	SNP	16947956	16947956	3933	19	T	C	C	55	55	CPAMD8	C	4	4
B3GNT3	10331	broad.mit.edu	36	19	17779748	17779748	+	Silent	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17779748C>T	uc002nhk.1	+	c.132C>T	c.(130-132)CCC>CCT	p.P44P	B3GNT3_uc002nhl.1_Silent_p.P44P|B3GNT3_uc010ebd.1_Silent_p.P44P|B3GNT3_uc010ebe.1_Silent_p.P44P	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	44	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity				0														0.315789	50.83196	52.551029	18	39	CC		KEEP	---	---	---	---	capture			Silent	SNP	17779748	17779748	1279	19	C	T	T	23	23	B3GNT3	T	1	1
ZNF493	284443	broad.mit.edu	36	19	21398297	21398297	+	Silent	SNP	T	C	C			TCGA-12-3649-01	TCGA-12-3649-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:21398297T>C	uc002npw.1	+	c.996T>C	c.(994-996)ATT>ATC	p.I332I	ZNF493_uc002npx.1_Silent_p.I204I|ZNF493_uc002npy.1_Silent_p.I204I|ZNF493_uc010ect.1_Silent_p.I204I	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 3	204	C2H2-type 7; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.361111	134.801936	136.633061	39	69	TT		KEEP	---	---	---	---	capture			Silent	SNP	21398297	21398297	18538	19	T	C	C	64	64	ZNF493	C	4	4
GADD45B	4616	broad.mit.edu	36	19	2428591	2428591	+	Missense_Mutation	SNP	G	C	C			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2428591G>C	uc002lwb.1	+	c.475G>C	c.(475-477)GAA>CAA	p.E159Q		NM_015675	NP_056490	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	159					activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress						0		Hepatocellular(1079;0.137)												0.128205	8.648285	13.900542	5	34	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	2428591	2428591	6433	19	G	C	C	41	41	GADD45B	C	3	3
LSR	51599	broad.mit.edu	36	19	40449690	40449690	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40449690C>T	uc002nyl.1	+	c.1268C>T	c.(1267-1269)CCC>CTC	p.P423L	LSR_uc002nym.1_Missense_Mutation_p.P404L|LSR_uc002nyn.1_Missense_Mutation_p.P355L|LSR_uc002nyo.1_Missense_Mutation_p.P403L|LSR_uc002nyp.1_Missense_Mutation_p.P365L|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	LISCH protein isoform 2	423	Cytoplasmic (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)													0.328947	73.149284	75.120599	25	51	CC		KEEP	---	---	---	---	capture	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Missense_Mutation	SNP	40449690	40449690	9440	19	C	T	T	22	22	LSR	T	2	2
CEACAM18	729767	broad.mit.edu	36	19	56678201	56678201	+	Silent	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56678201G>A	uc002pwv.1	+	c.975G>A	c.(973-975)AAG>AAA	p.K325K		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion	325	Ig-like C2-type.					integral to membrane				skin(1)	1		all_neural(266;0.0529)												0.270903	208.733933	222.89443	81	218	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	Silent	SNP	56678201	56678201	3322	19	G	A	A	36	36	CEACAM18	A	2	2
ZSCAN5B	342933	broad.mit.edu	36	19	61395876	61395876	+	Nonsense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61395876G>A	uc002qmp.1	-	c.214C>T	c.(214-216)CGA>TGA	p.R72*		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	120	SCAN box.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.139073	34.17152	53.17993	21	130	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	61395876	61395876	18843	19	G	A	A	40	40	ZSCAN5B	A	5	1
C19orf21	126353	broad.mit.edu	36	19	709162	709162	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:709162C>T	uc002lpo.1	+	c.1216C>T	c.(1216-1218)CGT>TGT	p.R406C		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	406											0		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)												0.127273	10.287939	17.737824	7	48	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	709162	709162	1975	19	C	T	T	23	23	C19orf21	T	1	1
NRAS	4893	broad.mit.edu	36	1	115058052	115058052	+	Missense_Mutation	SNP	T	A	A	rs11554290	by-hapmap	TCGA-12-3649-01	TCGA-12-3649-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:115058052T>A	uc009wgu.1	-	c.182A>T	c.(181-183)CAA>CTA	p.Q61L		NM_002524	NP_002515	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene	61	GTP.		Q -> K (in neuroblastoma cell).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(719)|p.Q61L(144)|p.Q61P(19)|p.Q61K(19)|p.Q61H(10)|p.Q61?(4)		haematopoietic_and_lymphoid_tissue(994)|skin(911)|thyroid(325)|NS(60)|large_intestine(52)|lung(29)|upper_aerodigestive_tract(25)|soft_tissue(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1)	2520	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)					Q61L(HEPG2_LIVER)|Q61R(SKMEL2_SKIN)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MHHES1_BONE)|Q61R(HT1197_URINARY_TRACT)|Q61L(MELJUSO_SKIN)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(KU1919_URINARY_TRACT)|Q61L(C3A_LIVER)|Q61R(TT2609C02_THYROID)|Q61R(NCIH2347_LUNG)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(SW1271_LUNG)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	p.Q61L(KMS21BM-Tumor)|p.Q61L(SNU719-Tumor)|p.Q61R(ONS76-Tumor)|p.Q61R(HS940.T-Tumor)|p.Q61R(KMS27-Tumor)|p.Q61L(HCC1195-Tumor)|p.Q61R(NCIH2347-Tumor)|p.Q61R(TT2609C02-Tumor)|p.Q61L(OCIAML3-Tumor)|p.Q61L(MHHES1-Tumor)|p.Q61L(IPC298-Tumor)|p.Q61L(MELJUSO-Tumor)|p.Q61L(MOLP8-Tumor)|p.Q61R(KU1919-Tumor)|p.Q61R(SKMEL2-Tumor)|p.Q61L(HEPG2-Tumor)|p.Q61R(SW1271-Tumor)|p.Q61L(C3A-Tumor)	128	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			0.346863	269.676633	275.282898	94	177	TT		KEEP	---	---	---	---	capture		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Missense_Mutation	SNP	115058052	115058052	11045	1	T	A	A	63	63	NRAS	A	4	4
OR6K2	81448	broad.mit.edu	36	1	156936384	156936384	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156936384C>T	uc001fsu.1	-	c.683G>A	c.(682-684)CGT>CAT	p.R228H		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.382609	127.271985	128.661901	44	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	156936384	156936384	11612	1	C	T	T	19	19	OR6K2	T	1	1
GPR161	23432	broad.mit.edu	36	1	166332762	166332762	+	Missense_Mutation	SNP	C	G	G			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:166332762C>G	uc009wvo.1	-	c.758G>C	c.(757-759)AGG>ACG	p.R253T	GPR161_uc001gfb.1_Missense_Mutation_p.R104T|GPR161_uc001gfc.1_Missense_Mutation_p.R236T|GPR161_uc001gfd.1_Missense_Mutation_p.R236T|GPR161_uc001gfe.1_Missense_Mutation_p.R236T	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	236	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)													0.297521	103.57041	107.995589	36	85	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	166332762	166332762	6940	1	C	G	G	24	24	GPR161	G	3	3
CROCC	9696	broad.mit.edu	36	1	17123532	17123532	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17123532G>A	uc001azt.2	+	c.322G>A	c.(322-324)GCC>ACC	p.A108T	CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Intron	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	108	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)	4		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)												0.163934	19.418955	25.956255	10	51	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	Missense_Mutation	SNP	17123532	17123532	4032	1	G	A	A	38	38	CROCC	A	1	1
CR2	1380	broad.mit.edu	36	1	205710733	205710733	+	Silent	SNP	C	A	A			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205710733C>A	uc001hfv.1	+	c.1251C>A	c.(1249-1251)CTC>CTA	p.L417L	CR2_uc001hfw.1_Silent_p.L417L|CR2_uc009xch.1_Silent_p.L417L|CR2_uc009xci.1_5'Flank	NM_001006658	NP_001006659	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	417	Sushi 7.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(1)|urinary_tract(1)|ovary(1)	3														0.285714	71.852965	75.895377	28	70	CC		KEEP	---	---	---	---	capture			Silent	SNP	205710733	205710733	3981	1	C	A	A	29	29	CR2	A	3	3
HSPG2	3339	broad.mit.edu	36	1	22029118	22029118	+	Missense_Mutation	SNP	T	G	G			TCGA-12-3649-01	TCGA-12-3649-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22029118T>G	uc009vqd.1	-	c.11728A>C	c.(11728-11730)ACC>CCC	p.T3910P	HSPG2_uc001bfi.1_5'UTR|HSPG2_uc001bfj.1_Missense_Mutation_p.T3909P	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3909	EGF-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)	8		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			Becaplermin(DB00102)|Palifermin(DB00039)									0.571429	8.79684	8.813083	4	3	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Missense_Mutation	SNP	22029118	22029118	7730	1	T	G	G	59	59	HSPG2	G	4	4
LYST	1130	broad.mit.edu	36	1	233932852	233932852	+	Nonsense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:233932852G>A	uc001hxj.1	-	c.10192C>T	c.(10192-10194)CGA>TGA	p.R3398*	LYST_uc001hxi.1_Nonsense_Mutation_p.R622*	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3398	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)												0.315603	242.847253	251.391544	89	193	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		Nonsense_Mutation	SNP	233932852	233932852	9505	1	G	A	A	40	40	LYST	A	5	1
RYR2	6262	broad.mit.edu	36	1	235844041	235844041	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235844041G>A	uc001hyl.1	+	c.4990G>A	c.(4990-4992)GTC>ATC	p.V1664I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1664	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)												0.538462	112.128885	112.212516	35	30	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Missense_Mutation	SNP	235844041	235844041	14249	1	G	A	A	40	40	RYR2	A	1	1
RYR2	6262	broad.mit.edu	36	1	236062499	236062499	+	Missense_Mutation	SNP	C	G	G			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:236062499C>G	uc001hyl.1	+	c.14833C>G	c.(14833-14835)CAA>GAA	p.Q4945E		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4945					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)												0.238095	27.811143	30.462104	10	32	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Missense_Mutation	SNP	236062499	236062499	14249	1	C	G	G	29	29	RYR2	G	3	3
SLC2A1	6513	broad.mit.edu	36	1	43168889	43168889	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43168889C>T	uc001cik.2	-	c.511G>A	c.(511-513)GCC>ACC	p.A171T		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	171	Helical; Name=5; (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)									0.428571	27.489362	27.578449	9	12	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43168889	43168889	15035	1	C	T	T	27	27	SLC2A1	T	1	1
KLF17	128209	broad.mit.edu	36	1	44367611	44367611	+	Splice_Site_SNP	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:44367611G>A	uc001clp.1	+	c.82_splice	c.e2-1	p.D28_splice	KLF17_uc009vxf.1_Splice_Site_SNP	NM_173484	NP_775755			zinc finger protein 393						regulation of transcription from RNA polymerase II promoter	nucleus	promoter binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.349206	132.040268	134.578016	44	82	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	44367611	44367611	8657	1	G	A	A	35	35	KLF17	A	5	2
EPHX4	253152	broad.mit.edu	36	1	92268355	92268355	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:92268355G>A	uc001don.1	+	c.131G>A	c.(130-132)GGC>GAC	p.G44D		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	abhydrolase domain containing 7	44						integral to membrane	hydrolase activity			central_nervous_system(1)	1						GBM(140;473 1857 5172 22066 49719)								0.363636	11.49706	11.676999	4	7	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	92268355	92268355	5375	1	G	A	A	42	42	EPHX4	A	2	2
ACTR5	79913	broad.mit.edu	36	20	36817172	36817172	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:36817172C>T	uc002xjd.2	+	c.934C>T	c.(934-936)CGG>TGG	p.R312W		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	312	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		ATP binding				0		Myeloproliferative disorder(115;0.00878)												0.363636	54.390248	55.287502	20	35	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36817172	36817172	216	20	C	T	T	27	27	ACTR5	T	1	1
SALL4	57167	broad.mit.edu	36	20	49834317	49834317	+	Missense_Mutation	SNP	G	C	C			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:49834317G>C	uc002xwh.2	-	c.3056C>G	c.(3055-3057)TCC>TGC	p.S1019C	SALL4_uc010gii.1_Missense_Mutation_p.S582C|SALL4_uc002xwi.2_Missense_Mutation_p.S242C	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	1019					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.278689	159.987512	168.024182	51	132	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49834317	49834317	14293	20	G	C	C	41	41	SALL4	C	3	3
PRIC285	85441	broad.mit.edu	36	20	61666244	61666244	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61666244C>T	uc002yfm.2	-	c.4375G>A	c.(4375-4377)GAG>AAG	p.E1459K	PRIC285_uc002yfl.1_Missense_Mutation_p.E890K	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1459					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)													0.4	6.349053	6.392772	2	3	CC		KEEP	---	---	---	---	capture	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		Missense_Mutation	SNP	61666244	61666244	12928	20	C	T	T	31	31	PRIC285	T	1	1
BAIAP2L2	80115	broad.mit.edu	36	22	36812301	36812301	+	Missense_Mutation	SNP	C	G	G	rs3833386	unknown	TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36812301C>G	uc003auw.1	-	c.1361G>C	c.(1360-1362)CGC>CCC	p.R454P	BAIAP2L2_uc003auv.1_Non-coding_Transcript	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	454					filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)													0.363636	10.697719	10.877336	4	7	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36812301	36812301	1324	22	C	G	G	27	27	BAIAP2L2	G	3	3
PMM1	5372	broad.mit.edu	36	22	40304806	40304806	+	Missense_Mutation	SNP	A	G	G			TCGA-12-3649-01	TCGA-12-3649-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40304806A>G	uc003bal.1	-	c.500T>C	c.(499-501)GTG>GCG	p.V167A		NM_002676	NP_002667	Q92871	PMM1_HUMAN	phosphomannomutase 1	167					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity				0														0.346154	56.235458	57.321579	18	34	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40304806	40304806	12562	22	A	G	G	6	6	PMM1	G	4	4
SULT1C3	442038	broad.mit.edu	36	2	108238463	108238463	+	Missense_Mutation	SNP	G	T	T			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:108238463G>T	uc002tdw.1	+	c.403G>T	c.(403-405)GTC>TTC	p.V135F		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	135						cytoplasm	alcohol sulfotransferase activity				0														0.335366	162.483382	166.41208	55	109	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108238463	108238463	15898	2	G	T	T	48	48	SULT1C3	T	3	3
MYO7B	4648	broad.mit.edu	36	2	128106328	128106328	+	Missense_Mutation	SNP	T	G	G			TCGA-12-3649-01	TCGA-12-3649-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:128106328T>G	uc002top.1	+	c.5209T>G	c.(5209-5211)TGC>GGC	p.C1737G	MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.1_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1737	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)													0.428571	8.96502	9.131886	9	12	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0753)	Missense_Mutation	SNP	128106328	128106328	10478	2	T	G	G	59	59	MYO7B	G	4	4
SLC4A10	57282	broad.mit.edu	36	2	162521907	162521907	+	Nonsense_Mutation	SNP	A	T	T			TCGA-12-3649-01	TCGA-12-3649-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:162521907A>T	uc002ubx.2	+	c.2704A>T	c.(2704-2706)AAA>TAA	p.K902*	SLC4A10_uc002uby.2_Nonsense_Mutation_p.K872*	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	902	Extracellular (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5														0.580645	58.854247	59.030145	18	13	AA		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	162521907	162521907	15148	2	A	T	T	5	5	SLC4A10	T	5	4
SCN9A	6335	broad.mit.edu	36	2	166849524	166849524	+	Missense_Mutation	SNP	A	T	T			TCGA-12-3649-01	TCGA-12-3649-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:166849524A>T	uc002udq.2	-	c.1659T>A	c.(1657-1659)AGT>AGA	p.S553R	SCN9A_uc002udr.1_Missense_Mutation_p.S424R|SCN9A_uc002uds.1_Missense_Mutation_p.S424R|SCN9A_uc002udt.1_Missense_Mutation_p.S424R	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	553						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)	11					Lamotrigine(DB00555)|Lidocaine(DB00281)									0.369565	47.861466	48.549638	17	29	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	166849524	166849524	14407	2	A	T	T	10	10	SCN9A	T	4	4
TTN	7273	broad.mit.edu	36	2	179165058	179165058	+	Missense_Mutation	SNP	T	A	A			TCGA-12-3649-01	TCGA-12-3649-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179165058T>A	uc002umr.1	-	c.52115A>T	c.(52114-52116)CAT>CTT	p.H17372L	TTN_uc002ums.1_Missense_Mutation_p.H11067L|TTN_uc010frc.1_Missense_Mutation_p.H11000L|TTN_uc010frd.1_Missense_Mutation_p.H10875L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18299										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				0.384615	80.862411	81.620203	25	40	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179165058	179165058	17290	2	T	A	A	51	51	TTN	A	4	4
CCDC108	255101	broad.mit.edu	36	2	219579007	219579007	+	Silent	SNP	A	G	G			TCGA-12-3649-01	TCGA-12-3649-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219579007A>G	uc002vjl.1	-	c.4902T>C	c.(4900-4902)TTT>TTC	p.F1634F		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1634						integral to membrane	structural molecule activity			ovary(2)|pancreas(1)	3		Renal(207;0.0915)												0.296296	8.886499	9.973474	8	19	AA		KEEP	---	---	---	---	capture		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Silent	SNP	219579007	219579007	2863	2	A	G	G	9	9	CCDC108	G	4	4
CCDC85A	114800	broad.mit.edu	36	2	56273599	56273599	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:56273599G>A	uc002rzn.1	+	c.760G>A	c.(760-762)GCC>ACC	p.A254T		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	254	His-rich.									breast(3)|ovary(2)	5														0.431373	66.851242	67.058429	22	29	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		Missense_Mutation	SNP	56273599	56273599	2983	2	G	A	A	38	38	CCDC85A	A	1	1
MST1R	4486	broad.mit.edu	36	3	49914969	49914969	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49914969C>T	uc003cxy.2	-	c.1078G>A	c.(1078-1080)GTG>ATG	p.V360M		NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	360	Extracellular (Potential).|Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|protein phosphorylation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6									p.V360M(MFE319-Tumor)	205				0.377119	254.989577	258.089261	89	147	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	Missense_Mutation	SNP	49914969	49914969	10284	3	C	T	T	19	19	MST1R	T	1	1
ITIH1	3697	broad.mit.edu	36	3	52791112	52791112	+	Silent	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52791112C>T	uc003dfs.2	+	c.804C>T	c.(802-804)TGC>TGT	p.C268C	ITIH1_uc010hmn.1_Non-coding_Transcript|ITIH1_uc003dft.2_5'Flank|ITIH1_uc010hmo.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	268					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3														0.357143	117.569318	119.582405	40	72	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	Silent	SNP	52791112	52791112	8207	3	C	T	T	27	27	ITIH1	T	1	1
ANK2	287	broad.mit.edu	36	4	114470918	114470918	+	Missense_Mutation	SNP	C	G	G			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:114470918C>G	uc003ibe.2	+	c.2968C>G	c.(2968-2970)CGA>GGA	p.R990G	ANK2_uc003ibc.1_Missense_Mutation_p.R966G|ANK2_uc003ibd.2_Missense_Mutation_p.R981G|ANK2_uc003ibf.2_Missense_Mutation_p.R990G|ANK2_uc003ibg.2_Missense_Mutation_p.R18G	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	990	ZU5.|Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)												0.362069	62.958811	63.92992	21	37	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	Missense_Mutation	SNP	114470918	114470918	624	4	C	G	G	23	23	ANK2	G	3	3
TBC1D19	55296	broad.mit.edu	36	4	26282872	26282872	+	Missense_Mutation	SNP	T	G	G			TCGA-12-3649-01	TCGA-12-3649-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:26282872T>G	uc003gsf.2	+	c.668T>G	c.(667-669)CTT>CGT	p.L223R	TBC1D19_uc010iew.1_Missense_Mutation_p.L223R	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	223						intracellular	Rab GTPase activator activity			breast(1)	1		Breast(46;0.0503)												0.277778	11.765808	12.566657	5	13	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26282872	26282872	16129	4	T	G	G	56	56	TBC1D19	G	4	4
GC	2638	broad.mit.edu	36	4	72837217	72837217	+	Missense_Mutation	SNP	A	G	G			TCGA-12-3649-01	TCGA-12-3649-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:72837217A>G	uc010iif.1	-	c.1334T>C	c.(1333-1335)CTA>CCA	p.L445P	GC_uc003hgd.1_Missense_Mutation_p.L304P|GC_uc010iie.1_Missense_Mutation_p.L426P|GC_uc003hge.1_Missense_Mutation_p.L426P	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	426	Albumin 3.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)	2		all_hematologic(202;0.107)			Cholecalciferol(DB00169)									0.314286	111.339922	114.560502	33	72	AA		KEEP	---	---	---	---	capture	Lung(101;0.148)		Missense_Mutation	SNP	72837217	72837217	6548	4	A	G	G	15	15	GC	G	4	4
FAM190A	401145	broad.mit.edu	36	4	91449186	91449186	+	Missense_Mutation	SNP	A	T	T			TCGA-12-3649-01	TCGA-12-3649-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:91449186A>T	uc003hsv.2	+	c.728A>T	c.(727-729)CAA>CTA	p.Q243L	FAM190A_uc003hsu.2_Missense_Mutation_p.Q243L|FAM190A_uc010ikv.1_Non-coding_Transcript|FAM190A_uc003hsw.1_Missense_Mutation_p.Q243L	NM_207491	NP_997374	Q9C0I3	F190A_HUMAN	similar to KIAA1680 protein isoform 2	243										large_intestine(1)|ovary(1)	2														0.376812	163.876184	165.710484	52	86	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91449186	91449186	5732	4	A	T	T	5	5	FAM190A	T	4	4
TSSK1B	83942	broad.mit.edu	36	5	112797535	112797535	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:112797535C>T	uc003kqm.1	-	c.901G>A	c.(901-903)GAA>AAA	p.E301K	MCC_uc003kql.2_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	301					cell differentiation|multicellular organismal development|protein phosphorylation|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(1)	3		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)								32				0.255814	28.306427	30.630763	11	32	CC		KEEP	---	---	---	---	capture		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	Missense_Mutation	SNP	112797535	112797535	17221	5	C	T	T	31	31	TSSK1B	T	1	1
PCDHGA1	56114	broad.mit.edu	36	5	140692038	140692038	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140692038C>T	uc003lji.1	+	c.1603C>T	c.(1603-1605)CGG>TGG	p.R535W	PCDHGA1_uc003ljh.1_Missense_Mutation_p.R535W	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	535	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3														0.325228	284.601628	293.526736	107	222	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140692038	140692038	11970	5	C	T	T	27	27	PCDHGA1	T	1	1
MYO10	4651	broad.mit.edu	36	5	16822271	16822271	+	Silent	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:16822271C>T	uc003jft.2	-	c.972G>A	c.(970-972)CGG>CGA	p.R324R	MYO10_uc010itx.1_5'Flank	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	324	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3														0.291667	19.614496	20.547964	7	17	CC		KEEP	---	---	---	---	capture			Silent	SNP	16822271	16822271	10457	5	C	T	T	22	22	MYO10	T	2	2
GRIK2	2898	broad.mit.edu	36	6	102590015	102590015	+	Missense_Mutation	SNP	C	G	G			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:102590015C>G	uc003pqp.2	+	c.2192C>G	c.(2191-2193)TCT>TGT	p.S731C	GRIK2_uc003pqo.2_Missense_Mutation_p.S731C|GRIK2_uc010kcw.1_Missense_Mutation_p.S731C	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	731	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|breast(1)|pancreas(1)	4		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)			L-Glutamic Acid(DB00142)									0.341637	328.915131	335.142367	96	185	CC		KEEP	---	---	---	---	capture		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Missense_Mutation	SNP	102590015	102590015	7053	6	C	G	G	32	32	GRIK2	G	3	3
HLA-DQA2	3118	broad.mit.edu	36	6	32821585	32821585	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32821585C>T	uc003obx.1	+	c.371C>T	c.(370-372)ACG>ATG	p.T124M		NM_020056	NP_064440	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ	124	Alpha-2.|Extracellular (Potential).|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.42953	192.470221	193.116526	64	85	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32821585	32821585	7496	6	C	T	T	19	19	HLA-DQA2	T	1	1
BMP5	653	broad.mit.edu	36	6	55728310	55728310	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:55728310G>A	uc003pcq.1	-	c.1345C>T	c.(1345-1347)CGC>TGC	p.R449C		NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	449					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)													0.354839	62.348609	63.492617	22	40	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.181)		Missense_Mutation	SNP	55728310	55728310	1488	6	G	A	A	40	40	BMP5	A	1	1
FHL5	9457	broad.mit.edu	36	6	97165279	97165279	+	Silent	SNP	C	T	T	rs61732222	unknown	TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:97165279C>T	uc003pos.1	+	c.615C>T	c.(613-615)GAC>GAT	p.D205D	FHL5_uc003pot.1_Silent_p.D205D	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	activator of cAMP-responsive element modulator	205	LIM zinc-binding 3.					nucleus	zinc ion binding			ovary(2)	2		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)												0.361702	236.40651	240.362712	85	150	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0948)	Silent	SNP	97165279	97165279	6119	6	C	T	T	19	19	FHL5	T	1	1
C6orf167	253714	broad.mit.edu	36	6	97719967	97719967	+	Nonsense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:97719967G>A	uc003ppb.1	-	c.3097C>T	c.(3097-3099)CGA>TGA	p.R1033*		NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	1033					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)												0.333333	102.227358	104.963373	37	74	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0457)	Nonsense_Mutation	SNP	97719967	97719967	2447	6	G	A	A	38	38	C6orf167	A	5	1
PCLO	27445	broad.mit.edu	36	7	82346606	82346606	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:82346606G>A	uc003uhx.2	-	c.13637C>T	c.(13636-13638)ACG>ATG	p.T4546M	PCLO_uc003uht.1_De_novo_Start_InFrame|PCLO_uc003uhu.1_De_novo_Start_OutOfFrame|PCLO_uc003uhv.2_Missense_Mutation_p.T4546M	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4440	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.27451	38.228524	40.563764	14	37	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82346606	82346606	12003	7	G	A	A	40	40	PCLO	A	1	1
FAM83H	286077	broad.mit.edu	36	8	144882286	144882286	+	Missense_Mutation	SNP	T	G	G			TCGA-12-3649-01	TCGA-12-3649-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144882286T>G	uc003yzk.1	-	c.1333A>C	c.(1333-1335)ACC>CCC	p.T445P	FAM83H_uc010mfk.1_Non-coding_Transcript	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	hypothetical protein LOC286077	445					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.2	6.702933	8.367711	4	16	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		Missense_Mutation	SNP	144882286	144882286	5866	8	T	G	G	58	58	FAM83H	G	4	4
ADAM7	8756	broad.mit.edu	36	8	24413604	24413604	+	Nonsense_Mutation	SNP	C	A	A			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:24413604C>A	uc003xeb.1	+	c.1947C>A	c.(1945-1947)TGC>TGA	p.C649*	ADAM7_uc003xec.2_Nonsense_Mutation_p.C421*	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	649	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			kidney(1)	1		Prostate(55;0.0181)												0.354839	28.498099	29.081236	11	20	CC		KEEP	---	---	---	---	capture		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	Nonsense_Mutation	SNP	24413604	24413604	252	8	C	A	A	26	26	ADAM7	A	5	3
CSMD1	64478	broad.mit.edu	36	8	4264930	4264930	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:4264930G>A	uc010lrh.1	-	c.368C>T	c.(367-369)ACG>ATG	p.T123M		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	123	Extracellular (Potential).|CUB 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)												0.411765	21.221632	21.337303	7	10	GG		KEEP	---	---	---	---	capture		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	Missense_Mutation	SNP	4264930	4264930	4085	8	G	A	A	40	40	CSMD1	A	1	1
XKR9	389668	broad.mit.edu	36	8	71808588	71808588	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:71808588C>T	uc003xyq.1	+	c.497C>T	c.(496-498)GCG>GTG	p.A166V	XKR9_uc010lzd.1_Missense_Mutation_p.A34V|XKR9_uc010lze.1_Missense_Mutation_p.A166V	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related	166	Helical; (Potential).					integral to membrane				ovary(1)	1	Breast(64;0.0716)													0.378378	78.978032	79.939935	28	46	CC		KEEP	---	---	---	---	capture	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		Missense_Mutation	SNP	71808588	71808588	18019	8	C	T	T	27	27	XKR9	T	1	1
TESK1	7016	broad.mit.edu	36	9	35599198	35599198	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35599198G>A	uc003zxa.1	+	c.1340G>A	c.(1339-1341)CGT>CAT	p.R447H	TESK1_uc003zwz.1_Non-coding_Transcript|TESK1_uc010mks.1_Missense_Mutation_p.R287H	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	447					cell junction assembly|protein phosphorylation|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5										56				0.369942	181.955934	184.526374	64	109	GG		KEEP	---	---	---	---	capture	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Missense_Mutation	SNP	35599198	35599198	16294	9	G	A	A	40	40	TESK1	A	1	1
GLIS3	169792	broad.mit.edu	36	9	4107963	4107963	+	Silent	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:4107963G>A	uc003zhx.1	-	c.1515C>T	c.(1513-1515)ATC>ATT	p.I505I	GLIS3_uc003zic.1_Silent_p.I505I|GLIS3_uc003zie.1_Silent_p.I505I|GLIS3_uc010mhh.1_Silent_p.I380I|GLIS3_uc003zid.1_Silent_p.I283I|GLIS3_uc010mhi.1_Silent_p.I312I|GLIS3_uc003zif.1_Silent_p.I283I|GLIS3_uc003zih.1_Silent_p.I283I|GLIS3_uc003zig.1_Silent_p.I349I|GLIS3_uc003zhw.1_Silent_p.I350I|GLIS3_uc003zhy.1_Silent_p.I283I|GLIS3_uc003zhz.1_Silent_p.I283I|GLIS3_uc003zib.1_Silent_p.I349I|GLIS3_uc010mhg.1_Silent_p.I283I	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform a	350	C2H2-type 1.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter		DNA binding|specific RNA polymerase II transcription factor activity|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)												0.316327	84.387105	87.328996	31	67	GG		KEEP	---	---	---	---	capture		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	Silent	SNP	4107963	4107963	6715	9	G	A	A	37	37	GLIS3	A	1	1
FBP2	8789	broad.mit.edu	36	9	96373627	96373627	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:96373627C>T	uc004auv.1	-	c.505G>A	c.(505-507)GGT>AGT	p.G169S		NM_003837	NP_003828	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	169					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)												0.383838	116.833577	118.002099	38	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96373627	96373627	5942	9	C	T	T	23	23	FBP2	T	1	1
MAGEC2	51438	broad.mit.edu	36	X	141118727	141118727	+	Missense_Mutation	SNP	A	T	T			TCGA-12-3649-01	TCGA-12-3649-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:141118727A>T	uc004fbu.1	-	c.713T>A	c.(712-714)TTC>TAC	p.F238Y	MAGEC2_uc010nsm.1_Missense_Mutation_p.F238Y	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	238	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.714286	320.246213	326.011748	100	40	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141118727	141118727	9562	23	A	T	T	9	9	MAGEC2	T	4	4
DMD	1756	broad.mit.edu	36	X	31075335	31075335	+	Missense_Mutation	SNP	C	G	G			TCGA-12-3649-01	TCGA-12-3649-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:31075335C>G	uc004dda.1	-	c.10775G>C	c.(10774-10776)AGG>ACG	p.R3592T	DMD_uc004dcr.1_Missense_Mutation_p.R1012T|DMD_uc004dcs.1_Missense_Mutation_p.R1022T|DMD_uc004dct.1_Missense_Mutation_p.R1132T|DMD_uc004dcu.1_Missense_Mutation_p.R1132T|DMD_uc004dcv.1_Missense_Mutation_p.R1119T|DMD_uc004dcw.2_Missense_Mutation_p.R2248T|DMD_uc004dcx.2_Missense_Mutation_p.R2251T|DMD_uc004dcz.2_Missense_Mutation_p.R3469T|DMD_uc004dcy.1_Missense_Mutation_p.R3588T|DMD_uc004ddb.1_Missense_Mutation_p.R3584T|DMD_uc004dcm.1_Missense_Mutation_p.R524T|DMD_uc004dcn.1_Missense_Mutation_p.R511T|DMD_uc004dco.1_Missense_Mutation_p.R524T|DMD_uc004dcp.1_Missense_Mutation_p.R511T|DMD_uc004dcq.1_Missense_Mutation_p.R863T	NM_004006	NP_004001	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3592					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.701923	254.40704	258.194882	73	31	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31075335	31075335	4760	23	C	G	G	24	24	DMD	G	3	3
MAGEB16	139604	broad.mit.edu	36	X	35730686	35730686	+	Missense_Mutation	SNP	T	A	A			TCGA-12-3649-01	TCGA-12-3649-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:35730686T>A	uc010ngt.1	+	c.452T>A	c.(451-453)TTC>TAC	p.F151Y	MAGEB16_uc010ngu.1_Missense_Mutation_p.F151Y	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	151	MAGE.									lung(3)|ovary(2)|breast(1)	6										43				0.712121	148.446357	151.1076	47	19	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35730686	35730686	9555	23	T	A	A	62	62	MAGEB16	A	4	4
TGIF2LX	90316	broad.mit.edu	36	X	89064232	89064232	+	Silent	SNP	G	A	A			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:89064232G>A	uc004efe.1	+	c.492G>A	c.(490-492)AAG>AAA	p.K164K	TGIF2LX_uc010nmt.1_Silent_p.K164K	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	164					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.733333	74.761357	76.235492	22	8	GG		KEEP	---	---	---	---	capture			Silent	SNP	89064232	89064232	16355	23	G	A	A	35	35	TGIF2LX	A	2	2
DIAPH2	1730	broad.mit.edu	36	X	96099550	96099550	+	Missense_Mutation	SNP	G	T	T			TCGA-12-3649-01	TCGA-12-3649-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:96099550G>T	uc004efu.2	+	c.1682G>T	c.(1681-1683)GGG>GTG	p.G561V	DIAPH2_uc004eft.2_Missense_Mutation_p.G561V	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	561	FH1.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4														0.733333	35.930964	36.668988	11	4	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96099550	96099550	4698	23	G	T	T	43	43	DIAPH2	T	3	3
C12orf50	160419	broad.mit.edu	36	12	86912596	86912597	+	Frame_Shift_Del	DEL	TA	-	-			TCGA-12-3649-01	TCGA-12-3649-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:86912596_86912597delTA	uc001tam.1	-	c.536_537delTA	c.(535-537)ATAfs	p.I179fs	C12orf50_uc001tan.2_Frame_Shift_Del_p.I233fs	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	179										ovary(1)	1														0.33			64	128				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	86912596	86912597	1739	12	TA	-	-	61	61	C12orf50	-	5	5
