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
DNMBP	23268	broad.mit.edu	36	10	101721736	101721736	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:101721736C>T	uc001kqj.2	-	c.136G>A	c.(136-138)GAT>AAT	p.D46N		NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	46	SH3 1.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)	5		Colorectal(252;0.234)												0.733333	275.90454	281.789735	88	32	CC		KEEP	---	---	---	---	capture		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	Missense_Mutation	SNP	101721736	101721736	4857	10	C	T	T	30	30	DNMBP	T	2	2
VWA2	340706	broad.mit.edu	36	10	116035882	116035882	+	Missense_Mutation	SNP	G	C	C			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:116035882G>C	uc001lbl.1	+	c.1192G>C	c.(1192-1194)GGG>CGG	p.G398R	VWA2_uc001lbk.1_Missense_Mutation_p.G398R|VWA2_uc009xyf.1_Missense_Mutation_p.G94R	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	398	VWFA 2.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)	4														0.595238	138.401427	139.057877	50	34	GG		KEEP	---	---	---	---	capture		Epithelial(162;0.036)|all cancers(201;0.0793)	Missense_Mutation	SNP	116035882	116035882	17808	10	G	C	C	43	43	VWA2	C	3	3
IKZF5	64376	broad.mit.edu	36	10	124745562	124745562	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:124745562C>T	uc001lha.2	-	c.254G>A	c.(253-255)CGG>CAG	p.R85Q	IKZF5_uc001lgz.2_5'Flank	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	zinc finger protein, subfamily 1A, 5	85	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)												0.119403	9.357557	18.879779	8	59	CC		KEEP	---	---	---	---	capture		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	Missense_Mutation	SNP	124745562	124745562	7919	10	C	T	T	23	23	IKZF5	T	1	1
GPR123	84435	broad.mit.edu	36	10	134760584	134760584	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:134760584C>T	uc001llx.2	+	c.120C>T	c.(118-120)ATC>ATT	p.I40I	GPR123_uc001llw.1_Silent_p.I760I	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	40	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)												0.134146	14.368978	25.016496	11	71	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	Silent	SNP	134760584	134760584	6911	10	C	T	T	31	31	GPR123	T	1	1
CALY	50632	broad.mit.edu	36	10	134990398	134990398	+	Missense_Mutation	SNP	T	G	G			TCGA-16-0848-01	TCGA-16-0848-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:134990398T>G	uc001lmo.2	-	c.334A>C	c.(334-336)ACC>CCC	p.T112P		NM_015722	NP_056537	Q9NYX4	CALY_HUMAN	dopamine receptor D1 interacting protein	112	Cytoplasmic (Potential).				clathrin coat assembly|dopamine receptor signaling pathway|endocytosis|positive regulation of endocytosis	cytoplasmic vesicle membrane|integral to plasma membrane	clathrin light chain binding|dopamine receptor binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)			Apomorphine(DB00714)|Clozapine(DB00363)|Flupenthixol(DB00875)|Trifluoperazine(DB00831)									0.363636	6.680951	6.866944	4	7	TT		KEEP	---	---	---	---	capture		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	Missense_Mutation	SNP	134990398	134990398	2712	10	T	G	G	59	59	CALY	G	4	4
ITGA8	8516	broad.mit.edu	36	10	15687728	15687728	+	Splice_Site_SNP	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:15687728C>T	uc001ioc.1	-	c.1970_splice	c.e19+1	p.P657_splice		NM_003638	NP_003629			integrin, alpha 8						cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6														0.636364	79.69151	80.408732	28	16	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	15687728	15687728	8186	10	C	T	T	19	19	ITGA8	T	5	1
MLLT10	8028	broad.mit.edu	36	10	21941322	21941322	+	Missense_Mutation	SNP	G	C	C			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:21941322G>C	uc001iqs.1	+	c.445G>C	c.(445-447)GCA>CCA	p.A149P	MLLT10_uc001iqt.1_Missense_Mutation_p.A149P|MLLT10_uc001iqv.1_Non-coding_Transcript|MLLT10_uc001iqy.1_Missense_Mutation_p.A149P|MLLT10_uc001iqz.1_5'UTR	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	149	Interaction with FSTL3.|Self-association.|PHD-type 2.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1										395				0.375	6.319859	6.430667	3	5	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21941322	21941322	10016	10	G	C	C	34	34	MLLT10	C	3	3
PLA2G12B	84647	broad.mit.edu	36	10	74384429	74384429	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:74384429G>A	uc001jtf.1	-	c.21C>T	c.(19-21)TTC>TTT	p.F7F	PLA2G12B_uc009xqt.1_5'UTR	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	7					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			ovary(1)	1	Prostate(51;0.0198)													0.351351	24.884344	25.640992	13	24	GG		KEEP	---	---	---	---	capture			Silent	SNP	74384429	74384429	12417	10	G	A	A	33	33	PLA2G12B	A	2	2
MYOZ1	58529	broad.mit.edu	36	10	75064306	75064306	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:75064306C>T	uc001jur.1	-	c.444G>A	c.(442-444)GCG>GCA	p.A148A		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	myozenin 1	148	Gly-rich.				myofibril assembly	nucleus|pseudopodium	FATZ binding			ovary(2)	2	Prostate(51;0.0112)													0.72973	174.177576	177.702287	54	20	CC		KEEP	---	---	---	---	capture			Silent	SNP	75064306	75064306	10490	10	C	T	T	23	23	MYOZ1	T	1	1
PTEN	5728	broad.mit.edu	36	10	89682891	89682891	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89682891G>A	uc001kfb.1	+	c.395G>A	c.(394-396)GGT>GAT	p.G132D		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	132	Phosphatase tensin-type.		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).		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.G132D(5)|p.Y27_N212>Y(2)|p.G132V(1)|p.K128fs*47(1)|p.G132R(1)|p.T131fs*42(1)|p.R130fs*2(1)|p.A121_F145del(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)						31		264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.592593	96.808936	97.21468	32	22	GG		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)	Missense_Mutation	SNP	89682891	89682891	13192	10	G	A	A	44	44	PTEN	A	2	2
CEP55	55165	broad.mit.edu	36	10	95266688	95266688	+	Missense_Mutation	SNP	T	G	G			TCGA-16-0848-01	TCGA-16-0848-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:95266688T>G	uc009xug.1	+	c.686T>G	c.(685-687)CTT>CGT	p.L229R	CEP55_uc001kiq.2_Missense_Mutation_p.L229R	NM_001127182	NP_001120654	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	229	Interaction with TSG101.				cell division|mitosis	centriole|cleavage furrow|midbody					0		Colorectal(252;0.207)												0.704545	94.936352	96.581461	31	13	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95266688	95266688	3388	10	T	G	G	56	56	CEP55	G	4	4
DNTT	1791	broad.mit.edu	36	10	98054386	98054386	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:98054386C>T	uc001kmf.1	+	c.142C>T	c.(142-144)CGC>TGC	p.R48C	DNTT_uc001kmg.1_Missense_Mutation_p.R48C	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	48	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)												0.513514	56.122865	56.128723	19	18	CC		KEEP	---	---	---	---	capture		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	Missense_Mutation	SNP	98054386	98054386	4863	10	C	T	T	23	23	DNTT	T	1	1
ZC3H12C	85463	broad.mit.edu	36	11	109540354	109540354	+	Missense_Mutation	SNP	A	G	G			TCGA-16-0848-01	TCGA-16-0848-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:109540354A>G	uc009yxw.1	+	c.1334A>G	c.(1333-1335)GAT>GGT	p.D445G	ZC3H12C_uc001pkr.2_Missense_Mutation_p.D414G	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	445							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)												0.230769	6.619844	8.48863	6	20	AA		KEEP	---	---	---	---	capture		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	Missense_Mutation	SNP	109540354	109540354	18151	11	A	G	G	12	12	ZC3H12C	G	4	4
ARHGAP32	9743	broad.mit.edu	36	11	128345562	128345562	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:128345562C>T	uc009zcp.1	-	c.4714G>A	c.(4714-4716)GAA>AAA	p.E1572K	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.1_Missense_Mutation_p.E531K|ARHGAP32_uc001qez.1_Missense_Mutation_p.E1223K	NM_014715	NP_055530	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 2	1572	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5														0.421053	113.386505	113.902088	40	55	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128345562	128345562	893	11	C	T	T	31	31	ARHGAP32	T	1	1
APLP2	334	broad.mit.edu	36	11	129498758	129498758	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:129498758G>A	uc001qft.1	+	c.964G>A	c.(964-966)GTG>ATG	p.V322M	APLP2_uc001qfp.1_Missense_Mutation_p.V322M|APLP2_uc001qfq.1_Intron|APLP2_uc001qfr.1_Intron|APLP2_uc001qfs.1_Intron|APLP2_uc001qfv.1_Intron	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	322	BPTI/Kunitz inhibitor.|Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)												0.116505	11.641596	26.536343	12	91	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	Missense_Mutation	SNP	129498758	129498758	790	11	G	A	A	40	40	APLP2	A	1	1
IGSF9B	22997	broad.mit.edu	36	11	133306124	133306124	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:133306124G>A	uc001qgx.2	-	c.1484C>T	c.(1483-1485)ACG>ATG	p.T495M	IGSF9B_uc001qgy.1_Missense_Mutation_p.T337M	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	495	Extracellular (Potential).|Ig-like 5.					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)												0.388889	74.967232	75.680358	28	44	GG		KEEP	---	---	---	---	capture		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	Missense_Mutation	SNP	133306124	133306124	7907	11	G	A	A	40	40	IGSF9B	A	1	1
GLB1L2	89944	broad.mit.edu	36	11	133731411	133731411	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:133731411C>T	uc001qhp.1	+	c.565C>T	c.(565-567)CGT>TGT	p.R189C	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	189					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)	2	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)												0.356223	217.659989	221.902225	83	150	CC		KEEP	---	---	---	---	capture		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	Missense_Mutation	SNP	133731411	133731411	6697	11	C	T	T	27	27	GLB1L2	T	1	1
KCNJ11	3767	broad.mit.edu	36	11	17365881	17365881	+	Missense_Mutation	SNP	T	G	G			TCGA-16-0848-01	TCGA-16-0848-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:17365881T>G	uc001mna.1	-	c.334A>C	c.(334-336)ACC>CCC	p.T112P	KCNJ11_uc001mnb.2_Missense_Mutation_p.T25P	NM_000525	NP_000516	E9PNK0	E9PNK0_HUMAN	potassium inwardly-rectifying channel J11	25						membrane	ATP-activated inward rectifier potassium channel activity			ovary(1)	1														0.2	18.679594	22.026155	8	32	TT		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Missense_Mutation	SNP	17365881	17365881	8350	11	T	G	G	59	59	KCNJ11	G	4	4
MRGPRX4	117196	broad.mit.edu	36	11	18151514	18151514	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:18151514C>T	uc001mnv.1	+	c.135C>T	c.(133-135)AAC>AAT	p.N45N		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	45	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0														0.3	87.053245	91.342723	36	84	CC		KEEP	---	---	---	---	capture			Silent	SNP	18151514	18151514	10162	11	C	T	T	19	19	MRGPRX4	T	1	1
SLC5A12	159963	broad.mit.edu	36	11	26681971	26681971	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:26681971C>T	uc001mra.2	-	c.625G>A	c.(625-627)GGA>AGA	p.G209R	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.2_Missense_Mutation_p.G209R	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	209	Extracellular (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)	1														0.303167	183.490465	191.105941	67	154	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26681971	26681971	15161	11	C	T	T	22	22	SLC5A12	T	2	2
B4GALNT4	338707	broad.mit.edu	36	11	369657	369657	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:369657G>A	uc001lpb.1	+	c.2444G>A	c.(2443-2445)CGC>CAC	p.R815H		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	815	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)												0.28	16.129462	17.208468	7	18	GG		KEEP	---	---	---	---	capture		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Missense_Mutation	SNP	369657	369657	1290	11	G	A	A	38	38	B4GALNT4	A	1	1
PHRF1	57661	broad.mit.edu	36	11	598060	598060	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:598060G>A	uc001lqe.1	+	c.2604G>A	c.(2602-2604)CCG>CCA	p.P868P	PHRF1_uc009ybz.1_Silent_p.P658P|PHRF1_uc009yca.1_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	868							RNA polymerase binding|zinc ion binding				0														0.142857	29.015477	46.218402	20	120	GG		KEEP	---	---	---	---	capture			Silent	SNP	598060	598060	12285	11	G	A	A	37	37	PHRF1	A	1	1
DAGLA	747	broad.mit.edu	36	11	61252320	61252320	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:61252320C>T	uc001nsa.1	+	c.756C>T	c.(754-756)AAC>AAT	p.N252N		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	252	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3														0.424658	87.816833	88.177065	31	42	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(4;0.219)	Silent	SNP	61252320	61252320	4393	11	C	T	T	19	19	DAGLA	T	1	1
TUT1	64852	broad.mit.edu	36	11	62099476	62099476	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62099476G>A	uc001nto.1	-	c.2291C>T	c.(2290-2292)GCG>GTG	p.A764V	EEF1G_uc001ntm.1_5'Flank|EEF1G_uc001ntn.1_5'Flank|TUT1_uc001ntp.1_Missense_Mutation_p.A298V	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	764					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2														0.4	127.980457	129.02658	48	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62099476	62099476	17336	11	G	A	A	38	38	TUT1	A	1	1
BRMS1	25855	broad.mit.edu	36	11	65864845	65864845	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65864845G>A	uc001oho.1	-	c.511C>T	c.(511-513)CGC>TGC	p.R171C	BRMS1_uc001ohp.1_Missense_Mutation_p.R171C|BRMS1_uc009yre.1_Silent_p.T18T	NM_001024957	NP_001020128	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1 isoform 2	171					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding				0						GBM(7;55 307 2662 20856 28942)								0.386364	48.669024	49.165403	17	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65864845	65864845	1547	11	G	A	A	39	39	BRMS1	A	1	1
DCHS1	8642	broad.mit.edu	36	11	6618287	6618287	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6618287G>A	uc001mem.1	-	c.1134C>T	c.(1132-1134)GCC>GCT	p.A378A		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	378	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)												0.506329	118.30225	118.305118	40	39	GG		KEEP	---	---	---	---	capture		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Silent	SNP	6618287	6618287	4458	11	G	A	A	39	39	DCHS1	A	1	1
CARNS1	57571	broad.mit.edu	36	11	66948541	66948541	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66948541G>A	uc001olc.2	+	c.2794G>A	c.(2794-2796)GGA>AGA	p.G932R	CARNS1_uc009yrp.1_Missense_Mutation_p.G793R	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	793					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0														0.409091	26.274004	26.431872	9	13	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66948541	66948541	2775	11	G	A	A	39	39	CARNS1	A	1	1
PITPNM1	9600	broad.mit.edu	36	11	67018974	67018974	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67018974C>T	uc001olx.1	-	c.2661G>A	c.(2659-2661)GCG>GCA	p.A887A	PITPNM1_uc001olw.1_Silent_p.A169A|PITPNM1_uc001oly.1_Silent_p.A887A|PITPNM1_uc001olz.1_Silent_p.A886A	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	887					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						GBM(28;144 709 4607 5525)								0.361702	140.480172	142.855281	51	90	CC		KEEP	---	---	---	---	capture			Silent	SNP	67018974	67018974	12374	11	C	T	T	23	23	PITPNM1	T	1	1
IGHMBP2	3508	broad.mit.edu	36	11	68457381	68457381	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:68457381G>A	uc001ook.1	+	c.1274G>A	c.(1273-1275)CGC>CAC	p.R425H	IGHMBP2_uc001ool.1_Missense_Mutation_p.R49H|IGHMBP2_uc001oom.1_Missense_Mutation_p.R3H	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	425	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0														0.425	44.749112	44.948537	17	23	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		Missense_Mutation	SNP	68457381	68457381	7892	11	G	A	A	38	38	IGHMBP2	A	1	1
ANO1	55107	broad.mit.edu	36	11	69709374	69709374	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:69709374G>A	uc001opj.1	+	c.2619G>A	c.(2617-2619)TCG>TCA	p.S873S	ANO1_uc001opi.1_Silent_p.S847S|ANO1_uc001opl.1_Non-coding_Transcript	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	transmembrane protein 16A	873	Extracellular (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2														0.336634	93.825359	96.206598	34	67	GG		KEEP	---	---	---	---	capture			Silent	SNP	69709374	69709374	703	11	G	A	A	39	39	ANO1	A	1	1
ST5	6764	broad.mit.edu	36	11	8689329	8689329	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:8689329C>T	uc001mgt.1	-	c.2198G>A	c.(2197-2199)CGA>CAA	p.R733Q	ST5_uc009yfr.1_Missense_Mutation_p.R313Q|ST5_uc001mgu.1_Missense_Mutation_p.R313Q|ST5_uc001mgv.1_Missense_Mutation_p.R733Q|ST5_uc009yfs.1_Non-coding_Transcript	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	733	UDENN.				positive regulation of ERK1 and ERK2 cascade		protein binding				0														0.283333	86.312954	91.364485	34	86	CC		KEEP	---	---	---	---	capture		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	Missense_Mutation	SNP	8689329	8689329	15738	11	C	T	T	31	31	ST5	T	1	1
HEPHL1	341208	broad.mit.edu	36	11	93418634	93418634	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:93418634C>T	uc001pep.2	+	c.318C>T	c.(316-318)GCC>GCT	p.A106A		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	106	Plastocyanin-like 1.|Extracellular (Potential).				copper ion transport|oxidation-reduction process	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)												0.320755	45.236635	46.760575	17	36	CC		KEEP	---	---	---	---	capture			Silent	SNP	93418634	93418634	7338	11	C	T	T	23	23	HEPHL1	T	1	1
MRE11A	4361	broad.mit.edu	36	11	93832274	93832274	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:93832274C>T	uc001peu.1	-	c.1448G>A	c.(1447-1449)CGA>CAA	p.R483Q	MRE11A_uc001pev.1_Missense_Mutation_p.R483Q|MRE11A_uc009ywj.1_Missense_Mutation_p.R486Q	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1	483					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(3)|lung(1)	4		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)								377				0.333333	92.317837	94.826183	34	68	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93832274	93832274	10151	11	C	T	T	31	31	MRE11A	T	1	1
MYBPC1	4604	broad.mit.edu	36	12	100532436	100532436	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:100532436G>A	uc001tih.1	+	c.57G>A	c.(55-57)CCG>CCA	p.P19P	MYBPC1_uc001tif.1_Silent_p.P19P|MYBPC1_uc001tig.1_Silent_p.P19P|MYBPC1_uc001tii.1_Silent_p.P19P|MYBPC1_uc001tij.1_Silent_p.P19P|MYBPC1_uc001tik.1_Intron	NM_002465	NP_002456	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 1	19					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)	3														0.147059	8.752259	12.821146	5	29	GG		KEEP	---	---	---	---	capture			Silent	SNP	100532436	100532436	10406	12	G	A	A	39	39	MYBPC1	A	1	1
GIT2	9815	broad.mit.edu	36	12	108911244	108911244	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108911244C>T	uc001tps.1	-	c.312G>A	c.(310-312)GCG>GCA	p.A104A	GIT2_uc001tpt.1_Silent_p.A104A|GIT2_uc001tpu.1_Silent_p.A104A|GIT2_uc001tpv.1_Silent_p.A104A|GIT2_uc001tpw.1_Silent_p.A104A	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	104	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1														0.307692	155.736469	162.16032	60	135	CC		KEEP	---	---	---	---	capture			Silent	SNP	108911244	108911244	6665	12	C	T	T	23	23	GIT2	T	1	1
SDS	10993	broad.mit.edu	36	12	112315154	112315154	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112315154C>T	uc001tvg.1	-	c.962G>A	c.(961-963)GGC>GAC	p.G321D		NM_006843	NP_006834	P20132	SDHL_HUMAN	serine dehydratase	321					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			pancreas(1)	1					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)									0.107744	22.803407	68.114291	32	265	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112315154	112315154	14461	12	C	T	T	26	26	SDS	T	2	2
MORN3	283385	broad.mit.edu	36	12	120591693	120591693	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:120591693C>T	uc001uax.1	-	c.80G>A	c.(79-81)CGG>CAG	p.R27Q	MORN3_uc001uay.1_Non-coding_Transcript	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	27											0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)													0.4375	210.535695	211.078135	70	90	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	Missense_Mutation	SNP	120591693	120591693	10101	12	C	T	T	23	23	MORN3	T	1	1
KNTC1	9735	broad.mit.edu	36	12	121663728	121663728	+	Silent	SNP	G	T	T			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121663728G>T	uc001ucv.1	+	c.5739G>T	c.(5737-5739)GTG>GTT	p.V1913V		NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1913					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)													0.126437	10.76003	22.618723	11	76	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	Silent	SNP	121663728	121663728	8742	12	G	T	T	45	45	KNTC1	T	3	3
EP400	57634	broad.mit.edu	36	12	131056740	131056740	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131056740G>A	uc001ujn.1	+	c.3066G>A	c.(3064-3066)GCG>GCA	p.A1022A	EP400_uc001ujl.1_Silent_p.A1021A|EP400_uc001ujm.1_Silent_p.A1022A	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1058	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)												0.315789	82.846523	85.697524	30	65	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	Silent	SNP	131056740	131056740	5342	12	G	A	A	39	39	EP400	A	1	1
GRIN2B	2904	broad.mit.edu	36	12	13652962	13652962	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:13652962C>T	uc001rbt.2	-	c.1852G>A	c.(1852-1854)GTA>ATA	p.V618I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	618	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				0.151163	19.220817	29.248265	13	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13652962	13652962	7059	12	C	T	T	19	19	GRIN2B	T	1	1
SLCO1B1	10599	broad.mit.edu	36	12	21269004	21269004	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:21269004G>A	uc001req.2	+	c.1829G>A	c.(1828-1830)CGT>CAT	p.R610H		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	610	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)									0.194444	27.542319	33.788574	14	58	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21269004	21269004	15220	12	G	A	A	40	40	SLCO1B1	A	1	1
TEAD4	7004	broad.mit.edu	36	12	3001340	3001340	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:3001340G>A	uc001qlo.1	+	c.793G>A	c.(793-795)GTG>ATG	p.V265M	TEAD4_uc001qll.1_Missense_Mutation_p.V192M|TEAD4_uc001qlm.1_Missense_Mutation_p.V222M|TEAD4_uc001qln.1_Missense_Mutation_p.V136M	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	TEA domain family member 4 isoform 3	265					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity				0	Ovarian(42;0.211)													0.470899	252.563976	252.7012	89	100	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		Missense_Mutation	SNP	3001340	3001340	16268	12	G	A	A	40	40	TEAD4	A	1	1
C12orf35	55196	broad.mit.edu	36	12	32027527	32027527	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32027527G>A	uc001rks.1	+	c.2371G>A	c.(2371-2373)GTT>ATT	p.V791I		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	791										ovary(1)	1	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)													0.387097	100.483068	101.520108	36	57	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		Missense_Mutation	SNP	32027527	32027527	1726	12	G	A	A	40	40	C12orf35	A	1	1
ADAMTS20	80070	broad.mit.edu	36	12	42063947	42063947	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:42063947C>T	uc001rnn.1	-	c.4553G>A	c.(4552-4554)CGA>CAA	p.R1518Q		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1518	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)								2149				0.383333	130.433723	131.861164	46	74	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0473)	Missense_Mutation	SNP	42063947	42063947	267	12	C	T	T	31	31	ADAMTS20	T	1	1
ENDOU	8909	broad.mit.edu	36	12	46390881	46390881	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:46390881C>T	uc001rpu.1	-	c.1204G>A	c.(1204-1206)GCC>ACC	p.A402T	ENDOU_uc001rpt.1_Missense_Mutation_p.A361T	NM_006025	NP_006016	P21128	ENDOU_HUMAN	placental protein 11 precursor	402					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			ovary(2)|pancreas(1)	3														0.419355	108.612527	109.138626	39	54	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46390881	46390881	5309	12	C	T	T	27	27	ENDOU	T	1	1
MCRS1	10445	broad.mit.edu	36	12	48239507	48239507	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:48239507C>T	uc001rui.1	-	c.1121G>A	c.(1120-1122)CGT>CAT	p.R374H	MCRS1_uc001ruj.1_Missense_Mutation_p.R348H|MCRS1_uc001ruk.1_Missense_Mutation_p.R361H|MCRS1_uc001rul.1_Missense_Mutation_p.R361H|MCRS1_uc009zlj.1_Missense_Mutation_p.R170H|MCRS1_uc001rum.1_Missense_Mutation_p.R348H	NM_001012300	NP_001012300	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 2	361					protein modification process	cytoplasm|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1														0.361702	89.371863	90.933585	34	60	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48239507	48239507	9788	12	C	T	T	19	19	MCRS1	T	1	1
B4GALNT3	283358	broad.mit.edu	36	12	533085	533085	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:533085C>T	uc001qii.1	+	c.1735C>T	c.(1735-1737)CGG>TGG	p.R579W	B4GALNT3_uc001qij.1_Missense_Mutation_p.R482W|B4GALNT3_uc001qik.1_Missense_Mutation_p.R128W	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	579	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity				0	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)													0.365079	61.407859	62.416426	23	40	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		Missense_Mutation	SNP	533085	533085	1289	12	C	T	T	27	27	B4GALNT3	T	1	1
GRIP1	23426	broad.mit.edu	36	12	65051847	65051847	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:65051847C>T	uc001stk.1	-	c.2750G>A	c.(2749-2751)CGG>CAG	p.R917Q	GRIP1_uc001stj.1_Missense_Mutation_p.R684Q|GRIP1_uc001stl.1_Missense_Mutation_p.R794Q|GRIP1_uc001stm.1_Missense_Mutation_p.R902Q	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	969					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2														0.088983	6.645136	46.785293	21	215	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	Missense_Mutation	SNP	65051847	65051847	7066	12	C	T	T	23	23	GRIP1	T	1	1
NTN4	59277	broad.mit.edu	36	12	94583786	94583786	+	Nonsense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:94583786G>A	uc001tei.1	-	c.1681C>T	c.(1681-1683)CGA>TGA	p.R561*	NTN4_uc009ztf.1_Nonsense_Mutation_p.R538*|NTN4_uc009ztg.1_Nonsense_Mutation_p.R524*	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	netrin 4	561	NTR.				axon guidance	basement membrane|plasma membrane				ovary(1)	1														0.397436	89.311615	90.028361	31	47	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	94583786	94583786	11107	12	G	A	A	39	39	NTN4	A	5	1
APAF1	317	broad.mit.edu	36	12	97604685	97604685	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:97604685G>A	uc001tfz.1	+	c.2207G>A	c.(2206-2208)CGA>CAA	p.R736Q	APAF1_uc001tfy.1_Missense_Mutation_p.R725Q|APAF1_uc001tga.1_Missense_Mutation_p.R725Q|APAF1_uc001tgb.1_Missense_Mutation_p.R736Q|APAF1_uc001tgc.1_Intron|APAF1_uc009zto.1_Missense_Mutation_p.R145Q	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	736	WD 3.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)				p.R736Q(NCIH1339-Tumor)	519				0.333333	73.874167	75.939537	28	56	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97604685	97604685	765	12	G	A	A	37	37	APAF1	A	1	1
ERCC5	2073	broad.mit.edu	36	13	102313411	102313411	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:102313411C>T	uc001vpu.1	+	c.3273C>T	c.(3271-3273)GCC>GCT	p.A1091A	ERCC5_uc001vpw.1_Silent_p.A637A	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	637					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|central_nervous_system(1)	5	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)									463				0.344828	56.086665	57.317964	20	38	CC		KEEP	---	---	---	---	capture			Silent	SNP	102313411	102313411	5409	13	C	T	T	23	23	ERCC5	T	1	1
COL4A2	1284	broad.mit.edu	36	13	109932961	109932961	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:109932961C>T	uc001vqx.1	+	c.2856C>T	c.(2854-2856)TTC>TTT	p.F952F		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	952	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			central_nervous_system(2)|ovary(1)	3	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)												0.409938	188.537921	189.672896	66	95	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		Silent	SNP	109932961	109932961	3828	13	C	T	T	31	31	COL4A2	T	1	1
PCDH8	5100	broad.mit.edu	36	13	52320047	52320047	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:52320047C>T	uc001vhi.1	-	c.526G>A	c.(526-528)GAG>AAG	p.E176K	PCDH8_uc001vhj.1_Missense_Mutation_p.E176K	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	176	Extracellular (Potential).|Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)				GBM(36;25 841 9273 49207)								0.538462	20.324994	20.341677	7	6	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;2.19e-08)	Missense_Mutation	SNP	52320047	52320047	11937	13	C	T	T	31	31	PCDH8	T	1	1
LMO7	4008	broad.mit.edu	36	13	75272871	75272871	+	Silent	SNP	C	T	T	rs41286124	unknown	TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:75272871C>T	uc001vjs.1	+	c.669C>T	c.(667-669)TAC>TAT	p.Y223Y	LMO7_uc001vjt.1_Silent_p.Y171Y|LMO7_uc001vju.1_Non-coding_Transcript|LMO7_uc001vjv.1_De_novo_Start_OutOfFrame	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 1	223						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)	2		Breast(118;0.0992)												0.45	74.91382	75.044695	27	33	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.0109)	Silent	SNP	75272871	75272871	9184	13	C	T	T	19	19	LMO7	T	1	1
MTA1	9112	broad.mit.edu	36	14	104998242	104998242	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104998242C>T	uc001yqx.1	+	c.849C>T	c.(847-849)GAC>GAT	p.D283D	MTA1_uc001yqy.1_Non-coding_Transcript|MTA1_uc001yqz.1_Silent_p.D197D|MTA1_uc001yra.1_Silent_p.D197D|MTA1_uc001yrb.1_Silent_p.D44D	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	283	SANT.				regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)												0.525	60.272345	60.293977	21	19	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	Silent	SNP	104998242	104998242	10301	14	C	T	T	19	19	MTA1	T	1	1
TMEM121	80757	broad.mit.edu	36	14	105066520	105066520	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:105066520C>T	uc001yrp.1	+	c.304C>T	c.(304-306)CGC>TGC	p.R102C	ADAM6_uc010axl.1_Intron|TMEM121_uc010axm.1_Missense_Mutation_p.R102C	NM_025268	NP_079544	Q9BTD3	TM121_HUMAN	hole protein	102						integral to membrane					0		Melanoma(154;0.226)												0.214286	11.553127	13.652464	6	22	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)	Missense_Mutation	SNP	105066520	105066520	16566	14	C	T	T	27	27	TMEM121	T	1	1
MYH7	4625	broad.mit.edu	36	14	22952859	22952859	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22952859G>A	uc001wjw.1	-	c.5739C>T	c.(5737-5739)GCC>GCT	p.A1913A	MYH7_uc001wjx.1_Silent_p.A1913A	NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1913	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)	3	all_cancers(95;2.54e-05)													0.146067	20.032131	30.738533	13	76	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00725)	Silent	SNP	22952859	22952859	10434	14	G	A	A	39	39	MYH7	A	1	1
OTX2	5015	broad.mit.edu	36	14	56340802	56340802	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:56340802G>A	uc001xcq.1	-	c.130C>T	c.(130-132)CGG>TGG	p.R44W	OTX2_uc001xcp.1_Missense_Mutation_p.R36W|OTX2_uc010aou.1_Missense_Mutation_p.R36W	NM_021728	NP_068374	P32243	OTX2_HUMAN	orthodenticle homeobox 2 isoform a	36					axon guidance|forebrain development|midbrain development|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway|regulation of transcription, DNA-dependent	growth cone|nucleus	eukaryotic initiation factor 4E binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)													0.449275	92.923975	93.077206	31	38	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56340802	56340802	11734	14	G	A	A	39	39	OTX2	A	1	1
SYT16	83851	broad.mit.edu	36	14	61620749	61620749	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:61620749C>T	uc001xfu.1	+	c.1517C>T	c.(1516-1518)GCG>GTG	p.A506V		NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	506										central_nervous_system(1)	1														0.299213	95.005275	99.578843	38	89	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	Missense_Mutation	SNP	61620749	61620749	15993	14	C	T	T	27	27	SYT16	T	1	1
SLC39A9	55334	broad.mit.edu	36	14	68994993	68994993	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:68994993G>A	uc001xle.1	+	c.854G>A	c.(853-855)CGC>CAC	p.R285H	SLC39A9_uc010aqx.1_Missense_Mutation_p.R262H|SLC39A9_uc001xlf.2_Intron|SLC39A9_uc001xlg.2_Non-coding_Transcript|SLC39A9_uc001xlh.1_5'Flank	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	solute carrier family 39 (zinc transporter),	285					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity				0														0.211765	33.901821	40.435388	18	67	GG		KEEP	---	---	---	---	capture		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	Missense_Mutation	SNP	68994993	68994993	15122	14	G	A	A	38	38	SLC39A9	A	1	1
ACOT1	641371	broad.mit.edu	36	14	73074286	73074286	+	Silent	SNP	C	G	G			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:73074286C>G	uc001xol.1	+	c.408C>G	c.(406-408)CGC>CGG	p.R136R	HEATR4_uc010art.1_Intron	NM_001037161	NP_001032238	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	136					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	cytosol	carboxylesterase activity|palmitoyl-CoA hydrolase activity				0														0.375	8.022474	8.132403	3	5	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)	Silent	SNP	73074286	73074286	149	14	C	G	G	27	27	ACOT1	G	3	3
KIAA0317	9870	broad.mit.edu	36	14	74209301	74209301	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74209301C>T	uc001xqb.1	-	c.1408G>A	c.(1408-1410)GCC>ACC	p.A470T	KIAA0317_uc001xqc.1_Missense_Mutation_p.A470T	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	470					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5														0.295699	131.536846	138.491437	55	131	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00404)	Missense_Mutation	SNP	74209301	74209301	8474	14	C	T	T	25	25	KIAA0317	T	2	2
KIAA0317	9870	broad.mit.edu	36	14	74210547	74210547	+	Missense_Mutation	SNP	G	C	C			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74210547G>C	uc001xqb.1	-	c.1101C>G	c.(1099-1101)TTC>TTG	p.F367L	KIAA0317_uc001xqc.1_Missense_Mutation_p.F367L	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	367					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5														0.294118	28.035485	29.325957	10	24	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00404)	Missense_Mutation	SNP	74210547	74210547	8474	14	G	C	C	33	33	KIAA0317	C	3	3
RPS6KL1	83694	broad.mit.edu	36	14	74445363	74445363	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74445363C>T	uc001xqw.1	-	c.1293G>A	c.(1291-1293)ACG>ACA	p.T431T	RPS6KL1_uc010asd.1_Non-coding_Transcript|RPS6KL1_uc001xqx.1_Missense_Mutation_p.G205R	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	462	Protein kinase.				protein phosphorylation	ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)	1										524				0.413793	70.192454	70.567934	24	34	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00658)	Silent	SNP	74445363	74445363	14139	14	C	T	T	23	23	RPS6KL1	T	1	1
ESRRB	2103	broad.mit.edu	36	14	76018731	76018731	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:76018731G>A	uc001xso.1	+	c.663G>A	c.(661-663)CCG>CCA	p.P221P	ESRRB_uc001xsp.1_Silent_p.P221P|ESRRB_uc001xsq.1_Silent_p.P221P|ESRRB_uc001xsr.1_Silent_p.P221P	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	221					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1														0.305263	74.405024	77.584004	29	66	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.0213)	Silent	SNP	76018731	76018731	5454	14	G	A	A	39	39	ESRRB	A	1	1
KIAA1409	57578	broad.mit.edu	36	14	93209453	93209453	+	Nonsense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93209453C>T	uc001ybv.1	+	c.6292C>T	c.(6292-6294)CGA>TGA	p.R2098*	KIAA1409_uc001ybs.1_Nonsense_Mutation_p.R2076*	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2253						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)								1186				0.313043	91.454096	95.034424	36	79	CC		KEEP	---	---	---	---	capture		Epithelial(152;0.188)	Nonsense_Mutation	SNP	93209453	93209453	8539	14	C	T	T	19	19	KIAA1409	T	5	1
PPP4R4	57718	broad.mit.edu	36	14	93787874	93787874	+	Nonsense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93787874C>T	uc001ycs.1	+	c.1753C>T	c.(1753-1755)CGA>TGA	p.R585*		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	585						cytoplasm|protein serine/threonine phosphatase complex	protein binding				0														0.294118	39.309247	41.241436	15	36	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	93787874	93787874	12841	14	C	T	T	31	31	PPP4R4	T	5	1
BDKRB1	623	broad.mit.edu	36	14	95799969	95799969	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:95799969G>A	uc001yfh.1	+	c.197G>A	c.(196-198)CGG>CAG	p.R66Q	BDKRB1_uc010avn.1_Missense_Mutation_p.R66Q|BDKRB1_uc010avo.1_Missense_Mutation_p.R66Q	NM_000710	NP_000701	P46663	BKRB1_HUMAN	bradykinin receptor B1	66	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			ovary(3)	3		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)												0.4	128.380837	129.341762	44	66	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	Missense_Mutation	SNP	95799969	95799969	1414	14	G	A	A	39	39	BDKRB1	A	1	1
HERC2	8924	broad.mit.edu	36	15	26132983	26132983	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:26132983G>A	uc001zbj.1	-	c.6389C>T	c.(6388-6390)CCG>CTG	p.P2130L		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2130					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)								1580				0.295455	32.657626	34.304708	13	31	GG		KEEP	---	---	---	---	capture		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	Missense_Mutation	SNP	26132983	26132983	7341	15	G	A	A	39	39	HERC2	A	1	1
HERC2	8924	broad.mit.edu	36	15	26174949	26174949	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:26174949G>A	uc001zbj.1	-	c.2627C>T	c.(2626-2628)GCG>GTG	p.A876V	HERC2_uc010ayw.1_Intron|HERC2_uc001zbl.1_Missense_Mutation_p.A571V	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	876					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)								1580				0.478261	61.461473	61.478705	22	24	GG		KEEP	---	---	---	---	capture		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	Missense_Mutation	SNP	26174949	26174949	7341	15	G	A	A	38	38	HERC2	A	1	1
FMN1	342184	broad.mit.edu	36	15	30936556	30936556	+	Missense_Mutation	SNP	C	G	G			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:30936556C>G	uc001zhf.2	-	c.3211G>C	c.(3211-3213)GAG>CAG	p.E1071Q		NM_001103184	NP_001096654	C9JFW6	C9JFW6_HUMAN	formin 1	327										ovary(1)	1		all_lung(180;1.14e-07)												0.432692	147.962988	148.37314	45	59	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	30936556	30936556	6191	15	C	G	G	30	30	FMN1	G	3	3
HERC1	8925	broad.mit.edu	36	15	61812350	61812350	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:61812350G>A	uc002amp.1	-	c.2694C>T	c.(2692-2694)CAC>CAT	p.H898H		NM_003922	NP_003913	Q15751	HERC1_HUMAN	guanine nucleotide exchange factor p532	898					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(5)|central_nervous_system(2)|lung(1)|breast(1)	9														0.428571	150.247525	150.802985	54	72	GG		KEEP	---	---	---	---	capture			Silent	SNP	61812350	61812350	7340	15	G	A	A	40	40	HERC1	A	1	1
ZNF609	23060	broad.mit.edu	36	15	62753583	62753583	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:62753583G>A	uc002ann.1	+	c.1477G>A	c.(1477-1479)GTC>ATC	p.V493I		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	493						nucleus	zinc ion binding			ovary(1)	1														0.476923	177.034632	177.094906	62	68	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62753583	62753583	18630	15	G	A	A	40	40	ZNF609	A	1	1
SPG21	51324	broad.mit.edu	36	15	63043068	63043068	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:63043068G>A	uc002aod.1	-	c.873C>T	c.(871-873)GCC>GCT	p.A291A	SPG21_uc002aoe.1_Silent_p.A291A|SPG21_uc010bhb.1_Silent_p.A264A|SPG21_uc010bhc.1_Silent_p.A137A	NM_001127889	NP_001121361	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 isoform a	291					antigen receptor-mediated signaling pathway|cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding				0														0.344156	149.759881	153.048598	53	101	GG		KEEP	---	---	---	---	capture			Silent	SNP	63043068	63043068	15555	15	G	A	A	39	39	SPG21	A	1	1
DIS3L	115752	broad.mit.edu	36	15	64394575	64394575	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:64394575C>T	uc002app.1	+	c.713C>T	c.(712-714)TCG>TTG	p.S238L	DIS3L_uc002apq.1_Missense_Mutation_p.S321L|DIS3L_uc010bho.1_Missense_Mutation_p.S187L	NM_133375	NP_588616	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	321					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|ribonuclease activity|RNA binding			ovary(2)	2														0.440476	103.643021	103.904731	37	47	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64394575	64394575	4715	15	C	T	T	31	31	DIS3L	T	1	1
CORO2B	10391	broad.mit.edu	36	15	66724714	66724714	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:66724714C>T	uc002arj.2	+	c.177C>T	c.(175-177)AGC>AGT	p.S59S	CORO2B_uc010bic.1_Silent_p.S54S	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	59					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|large_intestine(1)	4														0.373737	96.943244	98.33109	37	62	CC		KEEP	---	---	---	---	capture			Silent	SNP	66724714	66724714	3895	15	C	T	T	27	27	CORO2B	T	1	1
FAM154B	283726	broad.mit.edu	36	15	80362392	80362392	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:80362392C>T	uc002bgv.1	+	c.1131C>T	c.(1129-1131)TTC>TTT	p.F377F		NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	hypothetical protein LOC283726	377											0														0.471429	97.971232	98.020722	33	37	CC		KEEP	---	---	---	---	capture			Silent	SNP	80362392	80362392	5662	15	C	T	T	31	31	FAM154B	T	1	1
AKAP13	11214	broad.mit.edu	36	15	83924374	83924374	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:83924374G>A	uc002blu.1	+	c.2071G>A	c.(2071-2073)GAA>AAA	p.E691K	AKAP13_uc002blt.1_Missense_Mutation_p.E691K|AKAP13_uc002blv.1_Missense_Mutation_p.E691K|AKAP13_uc010bne.1_5'Flank	NM_006738	NP_006729	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 1	691					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|ovary(1)|liver(1)	8						Melanoma(94;603 1453 3280 32295 32951)								0.428571	182.496642	183.151221	63	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	83924374	83924374	452	15	G	A	A	37	37	AKAP13	A	1	1
SLCO3A1	28232	broad.mit.edu	36	15	90507027	90507027	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:90507027C>T	uc002bqx.1	+	c.1791C>T	c.(1789-1791)ATC>ATT	p.I597I	SLCO3A1_uc002bqy.1_Silent_p.I597I|SLCO3A1_uc002bqz.1_Silent_p.I539I	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	597	Helical; Name=11; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity				0	Lung NSC(78;0.0158)|all_lung(78;0.0255)													0.338983	52.096364	53.441787	20	39	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0841)		Silent	SNP	90507027	90507027	15225	15	C	T	T	31	31	SLCO3A1	T	1	1
PKD1	5310	broad.mit.edu	36	16	2083021	2083021	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2083021G>A	uc002cos.1	-	c.11091C>T	c.(11089-11091)CAC>CAT	p.H3697H	PKD1_uc002cot.1_Silent_p.H3696H|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	3697	Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(1)	1														0.142857	31.092283	51.749873	24	144	GG		KEEP	---	---	---	---	capture			Silent	SNP	2083021	2083021	12387	16	G	A	A	40	40	PKD1	A	1	1
CASKIN1	57524	broad.mit.edu	36	16	2176820	2176820	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2176820C>T	uc010bsg.1	-	c.937G>A	c.(937-939)GAG>AAG	p.E313K		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	313	SH3.				signal transduction	cytoplasm					0														0.323944	57.729788	59.617015	23	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2176820	2176820	2785	16	C	T	T	31	31	CASKIN1	T	1	1
PDIA2	64714	broad.mit.edu	36	16	273339	273339	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:273339C>T	uc002cgn.1	+	c.169C>T	c.(169-171)CGG>TGG	p.R57W	PDIA2_uc010bqt.1_5'UTR|PDIA2_uc002cgo.1_Missense_Mutation_p.R57W	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase-associated 2	57	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)	1		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)												0.365079	59.597791	60.610091	23	40	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	273339	273339	12089	16	C	T	T	27	27	PDIA2	T	1	1
SRRM2	23524	broad.mit.edu	36	16	2757798	2757798	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2757798G>A	uc002crk.1	+	c.7268G>A	c.(7267-7269)CGG>CAG	p.R2423Q	SRRM2_uc002crj.1_Missense_Mutation_p.R2327Q|SRRM2_uc002crl.1_Missense_Mutation_p.R2423Q|SRRM2_uc010bsu.1_Missense_Mutation_p.R2327Q	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2423	Ser-rich.				nuclear mRNA splicing, via spliceosome	Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.504762	162.27565	162.277772	53	52	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2757798	2757798	15683	16	G	A	A	39	39	SRRM2	A	1	1
RNF40	9810	broad.mit.edu	36	16	30685036	30685036	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30685036C>T	uc002dzq.1	+	c.1045C>T	c.(1045-1047)CGT>TGT	p.R349C	RNF40_uc010caa.1_Missense_Mutation_p.R349C|RNF40_uc010cab.1_Intron|RNF40_uc002dzr.1_Missense_Mutation_p.R349C	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	349	Potential.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1														0.185393	68.076283	84.589501	33	145	CC		KEEP	---	---	---	---	capture	Colorectal(24;0.198)		Missense_Mutation	SNP	30685036	30685036	13972	16	C	T	T	23	23	RNF40	T	1	1
MEFV	4210	broad.mit.edu	36	16	3246394	3246394	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3246394G>A	uc002cun.1	-	c.195C>T	c.(193-195)TAC>TAT	p.Y65Y		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	65	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5					Colchicine(DB01394)									0.102564	6.536493	24.941347	12	105	GG		KEEP	---	---	---	---	capture			Silent	SNP	3246394	3246394	9848	16	G	A	A	40	40	MEFV	A	1	1
SEC14L5	9717	broad.mit.edu	36	16	4986882	4986882	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4986882G>A	uc002cye.2	+	c.806G>A	c.(805-807)CGG>CAG	p.R269Q		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	269						integral to membrane|intracellular	transporter activity				0														0.40678	66.379244	66.829266	24	35	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4986882	4986882	14471	16	G	A	A	39	39	SEC14L5	A	1	1
RSPRY1	89970	broad.mit.edu	36	16	55796304	55796304	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:55796304G>A	uc002elb.1	+	c.233G>A	c.(232-234)CGG>CAG	p.R78Q	RSPRY1_uc002elc.1_Missense_Mutation_p.R78Q|RSPRY1_uc002eld.1_Missense_Mutation_p.R78Q|RSPRY1_uc002ele.1_Missense_Mutation_p.R78Q	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	78						extracellular region	zinc ion binding			ovary(1)	1														0.125	21.077088	39.766303	17	119	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55796304	55796304	14193	16	G	A	A	39	39	RSPRY1	A	1	1
MMP15	4324	broad.mit.edu	36	16	56636491	56636491	+	Missense_Mutation	SNP	G	T	T			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:56636491G>T	uc002ena.1	+	c.1650G>T	c.(1648-1650)AAG>AAT	p.K550N		NM_002428	NP_002419	P51511	MMP15_HUMAN	matrix metalloproteinase 15 preproprotein	550	Hemopexin-like 4.|Extracellular (Potential).				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			central_nervous_system(2)|breast(1)	3														0.363636	32.790021	33.330258	12	21	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56636491	56636491	10044	16	G	T	T	36	36	MMP15	T	3	3
CDH5	1003	broad.mit.edu	36	16	64994546	64994546	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:64994546G>A	uc002eom.2	+	c.2328G>A	c.(2326-2328)TCG>TCA	p.S776S		NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	776	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|central_nervous_system(1)	3		Ovarian(137;0.0955)												0.380952	22.395054	22.656027	8	13	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Silent	SNP	64994546	64994546	3242	16	G	A	A	39	39	CDH5	A	1	1
B3GNT9	84752	broad.mit.edu	36	16	65740750	65740750	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65740750G>A	uc002erf.1	-	c.1140C>T	c.(1138-1140)CAC>CAT	p.H380H		NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal	380	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0														0.375	23.468128	23.797616	9	15	GG		KEEP	---	---	---	---	capture			Silent	SNP	65740750	65740750	1285	16	G	A	A	40	40	B3GNT9	A	1	1
RANBP10	57610	broad.mit.edu	36	16	66322970	66322970	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66322970G>A	uc002eud.1	-	c.795C>T	c.(793-795)CTC>CTT	p.L265L	RANBP10_uc010ceo.1_Silent_p.L36L	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	265	LisH.									ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)												0.130435	7.817164	13.930074	6	40	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	Silent	SNP	66322970	66322970	13486	16	G	A	A	37	37	RANBP10	A	1	1
THAP11	57215	broad.mit.edu	36	16	66434428	66434428	+	Missense_Mutation	SNP	T	C	C			TCGA-16-0848-01	TCGA-16-0848-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66434428T>C	uc002euo.1	+	c.470T>C	c.(469-471)CTT>CCT	p.L157P	CENPT_uc002eun.2_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	THAP domain containing 11	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)												0.383333	346.263706	349.840126	115	185	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	Missense_Mutation	SNP	66434428	66434428	16371	16	T	C	C	56	56	THAP11	C	4	4
SLC38A8	146167	broad.mit.edu	36	16	82624538	82624538	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:82624538C>T	uc002fhg.1	-	c.426G>A	c.(424-426)CCG>CCA	p.P142P		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	142					amino acid transport|sodium ion transport	integral to membrane					0														0.38835	106.688272	107.808266	40	63	CC		KEEP	---	---	---	---	capture			Silent	SNP	82624538	82624538	15107	16	C	T	T	27	27	SLC38A8	T	1	1
KIAA0182	23199	broad.mit.edu	36	16	84225201	84225201	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:84225201C>T	uc002fix.1	+	c.188C>T	c.(187-189)GCG>GTG	p.A63V	KIAA0182_uc002fiw.1_Intron|KIAA0182_uc002fiy.1_Intron	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	63							protein binding			large_intestine(3)|ovary(1)|skin(1)	5														0.423077	30.729068	30.860908	11	15	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84225201	84225201	8466	16	C	T	T	27	27	KIAA0182	T	1	1
CDH15	1013	broad.mit.edu	36	16	87787500	87787500	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:87787500C>T	uc002fmt.1	+	c.1977C>T	c.(1975-1977)GGC>GGT	p.G659G		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	659	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding				0														0.428571	15.038644	15.102237	6	8	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0261)	Silent	SNP	87787500	87787500	3229	16	C	T	T	27	27	CDH15	T	1	1
SREBF1	6720	broad.mit.edu	36	17	17658308	17658308	+	Silent	SNP	T	G	G			TCGA-16-0848-01	TCGA-16-0848-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17658308T>G	uc002grt.1	-	c.2967A>C	c.(2965-2967)ACA>ACC	p.T989T	SREBF1_uc002grp.1_Silent_p.T578T|SREBF1_uc002grq.1_Silent_p.T478T|SREBF1_uc002grr.1_Silent_p.T705T|SREBF1_uc002grs.1_Silent_p.T935T|SREBF1_uc002gru.1_Silent_p.T959T	NM_001005291	NP_001005291	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	959	Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|sterol response element binding				0														0.285714	6.98403	7.568708	4	10	TT		KEEP	---	---	---	---	capture			Silent	SNP	17658308	17658308	15655	17	T	G	G	59	59	SREBF1	G	4	4
RTN4RL1	146760	broad.mit.edu	36	17	1787756	1787756	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:1787756G>A	uc002ftp.1	-	c.110C>T	c.(109-111)ACG>ATG	p.T37M		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	37	LRRNT.				axon regeneration	anchored to plasma membrane	receptor activity				0						GBM(68;949 1139 14865 32798 38342)								0.333333	26.343168	27.079604	10	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1787756	1787756	14211	17	G	A	A	40	40	RTN4RL1	A	1	1
USP22	23326	broad.mit.edu	36	17	20855071	20855071	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:20855071G>A	uc002gym.2	-	c.1088C>T	c.(1087-1089)ACG>ATG	p.T363M	USP22_uc002gyn.2_Missense_Mutation_p.T351M|USP22_uc002gyl.2_Missense_Mutation_p.T258M	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	ubiquitin specific protease 22	363					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding				0														0.152174	10.63108	15.930287	7	39	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20855071	20855071	17617	17	G	A	A	40	40	USP22	A	1	1
SUPT6H	6830	broad.mit.edu	36	17	24038594	24038594	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24038594G>A	uc002hby.1	+	c.2984G>A	c.(2983-2985)CGG>CAG	p.R995Q	SUPT6H_uc010crt.1_Missense_Mutation_p.R995Q|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	995					chromatin remodeling|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity|transcription elongation regulator activity			ovary(2)	2	Lung NSC(42;0.00431)													0.313433	58.551824	60.626782	21	46	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24038594	24038594	15920	17	G	A	A	39	39	SUPT6H	A	1	1
GGNBP2	79893	broad.mit.edu	36	17	31997647	31997647	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:31997647C>T	uc002hnb.1	+	c.560C>T	c.(559-561)TCG>TTG	p.S187L	GGNBP2_uc002hna.2_Missense_Mutation_p.S187L	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	187					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)												0.373494	87.503416	88.670128	31	52	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	Missense_Mutation	SNP	31997647	31997647	6627	17	C	T	T	31	31	GGNBP2	T	1	1
GPATCH8	23131	broad.mit.edu	36	17	39832839	39832839	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39832839C>T	uc002igw.1	-	c.2132G>A	c.(2131-2133)CGC>CAC	p.R711H	GPATCH8_uc002igv.1_Missense_Mutation_p.R633H	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	711	Lys-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)	3		Prostate(33;0.0181)												0.121372	44.655588	97.870755	46	333	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.206)	Missense_Mutation	SNP	39832839	39832839	6868	17	C	T	T	27	27	GPATCH8	T	1	1
EPX	8288	broad.mit.edu	36	17	53625753	53625753	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:53625753G>A	uc002ivq.2	+	c.193G>A	c.(193-195)GGT>AGT	p.G65S		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase	65					hydrogen peroxide catabolic process|oxidation-reduction process		heme binding|peroxidase activity|protein binding			ovary(2)	2														0.337079	159.38811	163.546313	60	118	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53625753	53625753	5393	17	G	A	A	39	39	EPX	A	1	1
LPO	4025	broad.mit.edu	36	17	53687230	53687230	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:53687230G>A	uc002ivt.1	+	c.1165G>A	c.(1165-1167)GAG>AAG	p.E389K	LPO_uc010dcp.1_Missense_Mutation_p.E306K|LPO_uc010dcq.1_Missense_Mutation_p.E60K|LPO_uc010dcr.1_5'UTR	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase	389					hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2														0.321839	147.647156	152.547828	56	118	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53687230	53687230	9295	17	G	A	A	37	37	LPO	A	1	1
TBX2	6909	broad.mit.edu	36	17	56840526	56840526	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:56840526C>T	uc002izf.1	+	c.1986C>T	c.(1984-1986)CGC>CGT	p.R662R	TBX2_uc002ize.2_3'UTR|TBX2_uc002izg.1_Silent_p.R518R	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	672					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding|transcription repressor activity				0						GBM(3;187 253 11467 14965 23079)								0.35	16.99746	17.403798	7	13	CC		KEEP	---	---	---	---	capture			Silent	SNP	56840526	56840526	16181	17	C	T	T	27	27	TBX2	T	1	1
NAT9	26151	broad.mit.edu	36	17	70279974	70279974	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70279974G>A	uc002jlq.1	-	c.372C>T	c.(370-372)GCC>GCT	p.A124A	NAT9_uc002jlr.1_Silent_p.A123A	NM_015654	NP_056469	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9	124	N-acetyltransferase.					protein complex	N-acetyltransferase activity				0														0.344262	58.456675	59.763287	21	40	GG		KEEP	---	---	---	---	capture			Silent	SNP	70279974	70279974	10578	17	G	A	A	39	39	NAT9	A	1	1
ACOX1	51	broad.mit.edu	36	17	71461166	71461166	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71461166C>T	uc002jqe.1	-	c.905G>A	c.(904-906)CGA>CAA	p.R302Q	ACOX1_uc002jqf.1_Missense_Mutation_p.R302Q	NM_004035	NP_004026	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1, palmitoyl isoform a	302					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1														0.32967	80.831102	83.165221	30	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71461166	71461166	159	17	C	T	T	31	31	ACOX1	T	1	1
EVPL	2125	broad.mit.edu	36	17	71516973	71516973	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71516973C>T	uc002jqi.2	-	c.3908G>A	c.(3907-3909)CGC>CAC	p.R1303H		NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1303	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)	3														0.383673	253.212674	256.110537	94	151	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71516973	71516973	5485	17	C	T	T	27	27	EVPL	T	1	1
RHBDF2	79651	broad.mit.edu	36	17	71979477	71979477	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71979477G>A	uc002jrq.1	-	c.2404C>T	c.(2404-2406)CGG>TGG	p.R802W	RHBDF2_uc002jrp.1_Missense_Mutation_p.R773W|RHBDF2_uc002jrr.1_3'UTR	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	rhomboid, veinlet-like 6 isoform 1	802	Cytoplasmic (Potential).				negative regulation of protein secretion	endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity				0														0.458333	30.023677	30.059626	11	13	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71979477	71979477	13795	17	G	A	A	38	38	RHBDF2	A	1	1
CANT1	124583	broad.mit.edu	36	17	74502699	74502699	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:74502699C>T	uc002jwj.1	-	c.831G>A	c.(829-831)CCG>CCA	p.P277P	CANT1_uc002jwk.1_Silent_p.P277P|CANT1_uc002jwl.1_Intron|CANT1_uc002jwm.1_Non-coding_Transcript|CANT1_uc002jwn.1_Silent_p.P277P	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	277	Lumenal (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity				0														0.6	18.151503	18.239033	6	4	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		Silent	SNP	74502699	74502699	2734	17	C	T	T	27	27	CANT1	T	1	1
CANT1	124583	broad.mit.edu	36	17	74505175	74505175	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:74505175C>T	uc002jwj.1	-	c.125G>A	c.(124-126)CGC>CAC	p.R42H	CANT1_uc002jwk.1_Missense_Mutation_p.R42H|CANT1_uc002jwl.1_Non-coding_Transcript|CANT1_uc002jwm.1_5'Flank|CANT1_uc002jwn.1_Missense_Mutation_p.R42H	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	42	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity				0														0.5	40.435031	40.435031	15	15	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		Missense_Mutation	SNP	74505175	74505175	2734	17	C	T	T	27	27	CANT1	T	1	1
TP53	7157	broad.mit.edu	36	17	7517747	7517747	+	Nonsense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7517747G>A	uc002gim.2	-	c.916C>T	c.(916-918)CGA>TGA	p.R306*	TP53_uc002gig.1_Intron|TP53_uc002gih.1_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	306	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.R306*(94)|p.0?(6)|p.?(2)|p.R306fs*39(2)|p.K305fs*1(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)				Pancreas(47;798 1329 9957 10801)	R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	p.R306*(RCM1-Tumor)|p.K305fs(HSC3-Tumor)|p.R306*(MFE296-Tumor)|p.R306*(CORL47-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.767241	274.526799	282.134692	89	27	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Nonsense_Mutation	SNP	7517747	7517747	16923	17	G	A	A	38	38	TP53	A	5	1
AZI1	22994	broad.mit.edu	36	17	76783321	76783321	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:76783321C>T	uc002jzp.1	-	c.2072G>A	c.(2071-2073)CGC>CAC	p.R691H	AZI1_uc002jzn.1_Missense_Mutation_p.R688H|AZI1_uc002jzo.1_Missense_Mutation_p.R688H|AZI1_uc002jzm.1_Missense_Mutation_p.R118H|AZI1_uc002jzq.2_5'Flank	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	691					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(118;0.0804)|Melanoma(429;0.242)													0.270408	254.004343	272.631091	106	286	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		Missense_Mutation	SNP	76783321	76783321	1261	17	C	T	T	27	27	AZI1	T	1	1
PIK3R6	146850	broad.mit.edu	36	17	8672636	8672636	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8672636C>T	uc002glq.1	-	c.1286G>A	c.(1285-1287)CGC>CAC	p.R429H	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	429					platelet activation	cytosol					0														0.310345	22.077638	22.999625	9	20	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8672636	8672636	12347	17	C	T	T	27	27	PIK3R6	T	1	1
MPPE1	65258	broad.mit.edu	36	18	11874615	11874615	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:11874615C>T	uc002kqj.1	-	c.1023G>A	c.(1021-1023)ACG>ACA	p.T341T	MPPE1_uc002kqf.1_Silent_p.T340T|MPPE1_uc002kqn.1_Silent_p.T277T|MPPE1_uc002kqg.1_Non-coding_Transcript|MPPE1_uc002kqh.1_Non-coding_Transcript|MPPE1_uc002kqi.1_Non-coding_Transcript|MPPE1_uc002kqk.1_Silent_p.T318T|MPPE1_uc002kql.1_Silent_p.T341T|MPPE1_uc002kqm.1_Silent_p.T277T	NM_023075	NP_075563	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1 precursor	340					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity				0														0.364865	73.022382	74.203538	27	47	CC		KEEP	---	---	---	---	capture			Silent	SNP	11874615	11874615	10132	18	C	T	T	27	27	MPPE1	T	1	1
FHOD3	80206	broad.mit.edu	36	18	32574641	32574641	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:32574641G>A	uc002kzs.1	+	c.3076G>A	c.(3076-3078)GAT>AAT	p.D1026N	FHOD3_uc002kzt.1_Missense_Mutation_p.D1009N|FHOD3_uc010dmz.1_Missense_Mutation_p.D741N|FHOD3_uc010dnb.1_Missense_Mutation_p.D5N	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1009	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			large_intestine(2)|breast(2)|ovary(1)	5		all_epithelial(2;0.0181)|Colorectal(2;0.0195)												0.473684	80.988288	81.016244	27	30	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32574641	32574641	6121	18	G	A	A	37	37	FHOD3	A	1	1
SLC14A2	8170	broad.mit.edu	36	18	41459736	41459736	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:41459736C>T	uc010dnj.1	+	c.241C>T	c.(241-243)CGG>TGG	p.R81W	SLC14A2_uc002lbb.2_Missense_Mutation_p.R81W|SLC14A2_uc002lbe.1_Missense_Mutation_p.R81W	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	81						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2														0.380952	42.789559	43.311544	16	26	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41459736	41459736	14892	18	C	T	T	31	31	SLC14A2	T	1	1
NFATC1	4772	broad.mit.edu	36	18	75271965	75271965	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:75271965G>A	uc002lnf.1	+	c.663G>A	c.(661-663)CCG>CCA	p.P221P	NFATC1_uc002lnd.1_Silent_p.P234P|NFATC1_uc002lne.1_Intron|NFATC1_uc002lng.1_Silent_p.P221P|NFATC1_uc002lnc.1_Silent_p.P234P	NM_172387	NP_765975	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	234	3 X SP repeats.|2.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)				GBM(151;1210 2593 28719 45011)				1639				0.373626	84.699792	85.984938	34	57	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Silent	SNP	75271965	75271965	10761	18	G	A	A	38	38	NFATC1	A	1	1
QTRT1	81890	broad.mit.edu	36	19	10684812	10684812	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10684812G>A	uc002mpr.1	+	c.1078G>A	c.(1078-1080)GTC>ATC	p.V360I	DNM2_uc010dxk.1_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	360					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity				0														0.248227	77.485538	85.601303	35	106	GG		KEEP	---	---	---	---	capture	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		Missense_Mutation	SNP	10684812	10684812	13343	19	G	A	A	40	40	QTRT1	A	1	1
ZNF490	57474	broad.mit.edu	36	19	12552924	12552924	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12552924C>T	uc002mtz.1	-	c.965G>A	c.(964-966)CGG>CAG	p.R322Q		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	322	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.277311	85.329203	90.636659	33	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12552924	12552924	18535	19	C	T	T	23	23	ZNF490	T	1	1
WDR83	84292	broad.mit.edu	36	19	12647341	12647341	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12647341C>T	uc002mue.2	+	c.803C>T	c.(802-804)GCG>GTG	p.A268V	WDR83_uc002muc.1_Non-coding_Transcript|WDR83_uc010dyw.1_Missense_Mutation_p.A268V	NM_001099737	NP_115708	Q9BRX9	WDR83_HUMAN	mitogen-activated protein kinase organizer 1	268	WD 6.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				lung(1)	1												OREG0025272	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.34375	84.153133	86.219804	33	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12647341	12647341	17905	19	C	T	T	27	27	WDR83	T	1	1
NDUFS7	374291	broad.mit.edu	36	19	1342040	1342040	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1342040G>A	uc002lse.2	+	c.399G>A	c.(397-399)GCG>GCA	p.A133A	NDUFS7_uc002lsf.2_Silent_p.A197A|NDUFS7_uc002lsg.2_Silent_p.A140A|NDUFS7_uc002lsh.1_Non-coding_Transcript	NM_024407	NP_077718	O75251	NDUS7_HUMAN	NADH-ubiquinone oxidoreductase Fe-S protein 7	133					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)			NADH(DB00157)									0.327273	43.045258	44.493503	18	37	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)	Silent	SNP	1342040	1342040	10696	19	G	A	A	38	38	NDUFS7	A	1	1
CYP4F22	126410	broad.mit.edu	36	19	15512366	15512366	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15512366G>A	uc002nbh.2	+	c.777G>A	c.(775-777)GCG>GCA	p.A259A		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	259					oxidation-reduction process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity			pancreas(1)	1														0.329193	147.128146	151.288166	53	108	GG		KEEP	---	---	---	---	capture			Silent	SNP	15512366	15512366	4354	19	G	A	A	39	39	CYP4F22	A	1	1
OR10H5	284433	broad.mit.edu	36	19	15765882	15765882	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15765882C>T	uc002nbp.1	+	c.24C>T	c.(22-24)TCC>TCT	p.S8S		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	8	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.202128	87.048872	102.541752	38	150	CC		KEEP	---	---	---	---	capture			Silent	SNP	15765882	15765882	11315	19	C	T	T	23	23	OR10H5	T	1	1
PGPEP1	54858	broad.mit.edu	36	19	18329313	18329313	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18329313G>A	uc002nis.1	+	c.325G>A	c.(325-327)GTG>ATG	p.V109M	PGPEP1_uc002nir.1_Non-coding_Transcript|PGPEP1_uc002nit.1_Missense_Mutation_p.V32M|PGPEP1_uc010ebo.1_Missense_Mutation_p.V109M	NM_017712	NP_060182	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I	109							cysteine-type peptidase activity				0														0.181818	18.723295	23.950338	10	45	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18329313	18329313	12226	19	G	A	A	40	40	PGPEP1	A	1	1
LRRC25	126364	broad.mit.edu	36	19	18368684	18368684	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18368684C>T	uc002niw.1	-	c.90G>A	c.(88-90)GCG>GCA	p.A30A	LRRC25_uc002nix.1_Silent_p.A30A	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	30	Extracellular (Potential).					integral to membrane					0														0.298246	45.002938	47.048829	17	40	CC		KEEP	---	---	---	---	capture			Silent	SNP	18368684	18368684	9354	19	C	T	T	23	23	LRRC25	T	1	1
ZNF101	94039	broad.mit.edu	36	19	19651270	19651270	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19651270C>T	uc002nni.1	+	c.472C>T	c.(472-474)CGG>TGG	p.R158W	ZNF101_uc010ecg.1_Missense_Mutation_p.R38W|ZNF101_uc002nnj.1_Missense_Mutation_p.R38W	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	zinc finger protein 101	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.260204	120.541012	130.74309	51	145	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19651270	19651270	18305	19	C	T	T	19	19	ZNF101	T	1	1
SPPL2B	56928	broad.mit.edu	36	19	2302557	2302557	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2302557G>A	uc002lvs.1	+	c.1480G>A	c.(1480-1482)GAG>AAG	p.E494K	SPPL2B_uc002lvr.1_Missense_Mutation_p.E494K	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	signal peptide peptidase-like 2B isoform 2	494						Golgi membrane|integral to membrane	aspartic-type endopeptidase activity				0		Hepatocellular(1079;0.137)												0.31	156.617206	163.028883	62	138	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	2302557	2302557	15602	19	G	A	A	41	41	SPPL2B	A	2	2
MLL4	9757	broad.mit.edu	36	19	40908300	40908300	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40908300C>T	uc010eei.1	+	c.3723C>T	c.(3721-3723)CAC>CAT	p.H1241H		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1241	PHD-type 1.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)													0.265517	173.691296	188.079801	77	213	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0515)		Silent	SNP	40908300	40908300	10013	19	C	T	T	19	19	MLL4	T	1	1
CREB3L3	84699	broad.mit.edu	36	19	4115534	4115534	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4115534G>A	uc002lzl.1	+	c.611G>A	c.(610-612)CGA>CAA	p.R204Q	CREB3L3_uc002lzm.1_Missense_Mutation_p.R194Q	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	204	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.255814	127.319498	138.951963	55	160	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	4115534	4115534	3997	19	G	A	A	37	37	CREB3L3	A	1	1
FCGBP	8857	broad.mit.edu	36	19	45049504	45049504	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45049504G>A	uc002omp.2	-	c.15649C>T	c.(15649-15651)CGT>TGT	p.R5217C		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5217	Cys-rich.					extracellular region	protein binding			ovary(4)|central_nervous_system(1)	5	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)													0.186275	36.869041	46.276387	19	83	GG		KEEP	---	---	---	---	capture	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		Missense_Mutation	SNP	45049504	45049504	6015	19	G	A	A	39	39	FCGBP	A	1	1
MAP3K10	4294	broad.mit.edu	36	19	45403671	45403671	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45403671G>A	uc002ona.1	+	c.1202G>A	c.(1201-1203)CGT>CAT	p.R401H	MAP3K10_uc002onb.1_Intron	NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	401	Leucine-zipper 1.				activation of JUN kinase activity|induction of apoptosis|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|protein homodimerization activity			ovary(2)|lung(2)|skin(1)|pancreas(1)	6										92				0.5	18.250196	18.250196	6	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45403671	45403671	9627	19	G	A	A	40	40	MAP3K10	A	1	1
CYP2B6	1555	broad.mit.edu	36	19	46202065	46202065	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:46202065C>T	uc002opr.1	+	c.358C>T	c.(358-360)CGC>TGC	p.R120C	CYP2A7_uc002opo.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	120					cellular ketone metabolic process|exogenous drug catabolic process|oxidation-reduction process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1					Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)					56				0.104167	7.481671	22.448148	10	86	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(20;0.00322)		Missense_Mutation	SNP	46202065	46202065	4329	19	C	T	T	23	23	CYP2B6	T	1	1
C19orf61	56006	broad.mit.edu	36	19	48936197	48936197	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:48936197G>A	uc002oxj.2	-	c.715C>T	c.(715-717)CGG>TGG	p.R239W	C19orf61_uc002oxk.2_Missense_Mutation_p.R239W|C19orf61_uc010eiy.1_Missense_Mutation_p.R239W	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	hypothetical protein LOC56006	239					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			pancreas(1)	1		Prostate(69;0.0352)												0.269737	108.835368	116.089487	41	111	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48936197	48936197	2007	19	G	A	A	39	39	C19orf61	A	1	1
MYPOP	339344	broad.mit.edu	36	19	51085773	51085773	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:51085773C>T	uc002pdt.1	-	c.1148G>A	c.(1147-1149)CGG>CAG	p.R383Q		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Myb protein P42POP	383	Nuclear localization signal (By similarity).					nucleus	DNA binding				0														0.31746	52.082816	53.946434	20	43	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51085773	51085773	10494	19	C	T	T	23	23	MYPOP	T	1	1
GRWD1	83743	broad.mit.edu	36	19	53646255	53646255	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53646255C>T	uc002pjd.1	+	c.978C>T	c.(976-978)GGC>GGT	p.G326G		NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	326	WD 3.					nucleolus				ovary(1)	1		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)												0.177419	39.786303	51.93361	22	102	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	Silent	SNP	53646255	53646255	7091	19	C	T	T	27	27	GRWD1	T	1	1
PPFIA3	8541	broad.mit.edu	36	19	54343228	54343228	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54343228G>A	uc002pmr.1	+	c.2912G>A	c.(2911-2913)CGC>CAC	p.R971H	PPFIA3_uc002pms.2_Missense_Mutation_p.R830H|PPFIA3_uc002pmt.1_Missense_Mutation_p.R110H|PPFIA3_uc002pmu.1_Missense_Mutation_p.R20H	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	971	SAM 2.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)												0.3	86.476983	91.125437	39	91	GG		KEEP	---	---	---	---	capture		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	Missense_Mutation	SNP	54343228	54343228	12741	19	G	A	A	38	38	PPFIA3	A	1	1
MYH14	79784	broad.mit.edu	36	19	55412782	55412782	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55412782C>T	uc010enu.1	+	c.504C>T	c.(502-504)CAC>CAT	p.H168H	MYH14_uc002prq.1_Silent_p.H168H|MYH14_uc002prr.1_Silent_p.H168H	NM_001077186	NP_001070654	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 1	168	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)												0.194118	63.884484	78.723614	33	137	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	Silent	SNP	55412782	55412782	10428	19	C	T	T	19	19	MYH14	T	1	1
LILRB4	11006	broad.mit.edu	36	19	59867533	59867533	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59867533G>A	uc002qgr.1	+	c.563G>A	c.(562-564)CGG>CAG	p.R188Q	LILRB4_uc002qgp.1_Missense_Mutation_p.R147Q|LILRB4_uc002qgq.1_Missense_Mutation_p.R147Q|LILRB4_uc010ers.1_Missense_Mutation_p.R60Q|LILRB4_uc010ert.1_Missense_Mutation_p.R188Q|LILRB4_uc010eru.1_Missense_Mutation_p.R176Q	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	147	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3														0.246575	88.932377	97.465654	36	110	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.035)	Missense_Mutation	SNP	59867533	59867533	9119	19	G	A	A	39	39	LILRB4	A	1	1
NLRP7	199713	broad.mit.edu	36	19	60139540	60139540	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60139540G>A	uc010esl.1	-	c.2285C>T	c.(2284-2286)ACG>ATG	p.T762M	NLRP7_uc002qig.2_Missense_Mutation_p.T706M|NLRP7_uc002qii.2_Missense_Mutation_p.T734M|NLRP7_uc002qih.2_Missense_Mutation_p.T734M|NLRP7_uc010esk.1_Missense_Mutation_p.T734M	NM_001127255	NP_001120727	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	734							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3														0.3125	50.31179	52.296191	20	44	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0325)	Missense_Mutation	SNP	60139540	60139540	10885	19	G	A	A	40	40	NLRP7	A	1	1
PPP1R12C	54776	broad.mit.edu	36	19	60297596	60297596	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60297596G>A	uc002qix.1	-	c.1612C>T	c.(1612-1614)CGG>TGG	p.R538W	PPP1R12C_uc002qiy.1_Missense_Mutation_p.R537W	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	538						cytoplasm				central_nervous_system(1)	1														0.126214	15.00161	29.051222	13	90	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	Missense_Mutation	SNP	60297596	60297596	12791	19	G	A	A	38	38	PPP1R12C	A	1	1
FIZ1	84922	broad.mit.edu	36	19	60796447	60796447	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60796447G>A	uc002qli.2	-	c.672C>T	c.(670-672)GAC>GAT	p.D224D	FIZ1_uc002qlj.2_Silent_p.D224D	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0														0.25	13.240949	14.603232	6	18	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	Silent	SNP	60796447	60796447	6138	19	G	A	A	40	40	FIZ1	A	1	1
ZNF211	10520	broad.mit.edu	36	19	62844322	62844322	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62844322C>T	uc002qps.1	+	c.851C>T	c.(850-852)GCG>GTG	p.A284V	ZNF211_uc002qpp.1_Missense_Mutation_p.A232V|ZNF211_uc002qpq.1_Missense_Mutation_p.A219V|ZNF211_uc002qpr.1_Missense_Mutation_p.A283V|ZNF211_uc002qpt.1_Missense_Mutation_p.A231V	NM_006385	NP_006376	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 1	219					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)												0.131148	19.818641	35.956265	16	106	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	Missense_Mutation	SNP	62844322	62844322	18358	19	C	T	T	27	27	ZNF211	T	1	1
ZSCAN1	284312	broad.mit.edu	36	19	63241199	63241199	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63241199G>A	uc002qrc.1	+	c.183G>A	c.(181-183)ACG>ACA	p.T61T	ZSCAN1_uc002qra.1_Silent_p.T61T|ZSCAN1_uc002qrb.1_Silent_p.T61T	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	61	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		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)												0.259259	15.612948	17.030556	7	20	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	Silent	SNP	63241199	63241199	18830	19	G	A	A	38	38	ZSCAN1	A	1	1
ARHGEF18	23370	broad.mit.edu	36	19	7433216	7433216	+	Silent	SNP	C	T	T	rs2303140	by-frequency	TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7433216C>T	uc002mgi.1	+	c.2067C>T	c.(2065-2067)AGC>AGT	p.S689S	ARHGEF18_uc002mgg.1_Silent_p.S531S|ARHGEF18_uc002mgh.1_Silent_p.S531S|ARHGEF18_uc002mgj.1_Silent_p.S332S	NM_015318	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Rho-specific guanine nucleotide exchange factor	689					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)												0.36	73.406468	74.69951	27	48	CC		KEEP	---	---	---	---	capture			Silent	SNP	7433216	7433216	915	19	C	T	T	27	27	ARHGEF18	T	1	1
TRAPPC5	126003	broad.mit.edu	36	19	7653477	7653477	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7653477G>A	uc002mhi.1	+	c.338G>A	c.(337-339)CGC>CAC	p.R113H	TRAPPC5_uc002mhj.1_Missense_Mutation_p.R113H|TRAPPC5_uc002mhk.1_Missense_Mutation_p.R113H|TRAPPC5_uc010dvn.1_Missense_Mutation_p.R113H	NM_001042462	NP_777554	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	113					vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding				0														0.372881	53.507646	54.354099	22	37	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7653477	7653477	17006	19	G	A	A	38	38	TRAPPC5	A	1	1
AZU1	566	broad.mit.edu	36	19	779365	779365	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:779365C>T	uc002lpz.1	+	c.194C>T	c.(193-195)GCG>GTG	p.A65V		NM_001700	NP_001691	P20160	CAP7_HUMAN	azurocidin 1 preproprotein	65	Peptidase S1.|Hydrophobic.|Possesses antibiotic activity.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			pancreas(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)												0.1	6.386447	28.734645	14	126	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	779365	779365	1264	19	C	T	T	27	27	AZU1	T	1	1
MARCH2	51257	broad.mit.edu	36	19	8397528	8397528	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8397528C>T	uc002mjv.1	+	c.212C>T	c.(211-213)GCG>GTG	p.A71V	MARCH2_uc002mjw.1_Missense_Mutation_p.A71V|MARCH2_uc002mjx.1_Missense_Mutation_p.A71V	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2	71	RING-CH-type.				endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2														0.269504	90.790082	97.548942	38	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8397528	8397528	9684	19	C	T	T	27	27	MARCH2	T	1	1
ATP1A1	476	broad.mit.edu	36	1	116742136	116742136	+	Missense_Mutation	SNP	A	G	G			TCGA-16-0848-01	TCGA-16-0848-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:116742136A>G	uc001ege.1	+	c.2077A>G	c.(2077-2079)ACC>GCC	p.T693A	ATP1A1_uc001egf.1_Intron|ATP1A1OS_uc009whb.1_Intron|ATP1A1_uc001egh.1_5'Flank	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	693	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)			Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)									0.294118	91.699645	96.202466	35	84	AA		KEEP	---	---	---	---	capture		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Missense_Mutation	SNP	116742136	116742136	1147	1	A	G	G	10	10	ATP1A1	G	4	4
ZNF697	90874	broad.mit.edu	36	1	119967092	119967092	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:119967092C>T	uc001ehy.1	-	c.1397G>A	c.(1396-1398)CGC>CAC	p.R466H		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	466	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)												0.368421	18.521569	18.80999	7	12	CC		KEEP	---	---	---	---	capture		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	Missense_Mutation	SNP	119967092	119967092	18695	1	C	T	T	27	27	ZNF697	T	1	1
SV2A	9900	broad.mit.edu	36	1	148146289	148146289	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148146289G>A	uc001etg.1	-	c.1473C>T	c.(1471-1473)CGC>CGT	p.R491R	SV2A_uc001eth.1_Silent_p.R491R	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	491	Extracellular (Potential).				neurotransmitter transport|transmembrane transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)				Levetiracetam(DB01202)									0.429245	259.999321	260.922424	91	121	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Silent	SNP	148146289	148146289	15937	1	G	A	A	38	38	SV2A	A	1	1
C1orf66	51093	broad.mit.edu	36	1	154970813	154970813	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154970813G>A	uc001fpu.1	+	c.1025G>A	c.(1024-1026)CGT>CAT	p.R342H	C1orf66_uc001fpv.1_Intron	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	hypothetical protein LOC51093 isoform 1	342						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.347826	20.897256	21.365374	8	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154970813	154970813	2130	1	G	A	A	40	40	C1orf66	A	1	1
SPTA1	6708	broad.mit.edu	36	1	156912610	156912610	+	Nonsense_Mutation	SNP	C	A	A			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156912610C>A	uc001fst.1	-	c.1057G>T	c.(1057-1059)GAG>TAG	p.E353*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	353	Spectrin 4.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.376623	227.970006	231.054517	87	144	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	156912610	156912610	15630	1	C	A	A	30	30	SPTA1	A	5	3
IFI16	3428	broad.mit.edu	36	1	157288252	157288252	+	Nonsense_Mutation	SNP	G	T	T			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:157288252G>T	uc001ftg.1	+	c.1657G>T	c.(1657-1659)GAA>TAA	p.E553*	IFI16_uc001fti.2_Nonsense_Mutation_p.E553*|IFI16_uc001fth.1_Nonsense_Mutation_p.E96*	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	609	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nucleolus|nucleoplasm	double-stranded DNA binding|transcription repressor activity			ovary(1)	1	all_hematologic(112;0.0429)													0.338346	119.025187	122.102856	45	88	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	157288252	157288252	7812	1	G	T	T	45	45	IFI16	T	5	3
SPEN	23013	broad.mit.edu	36	1	16131071	16131071	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16131071C>T	uc001axk.1	+	c.5749C>T	c.(5749-5751)CGC>TGC	p.R1917C		NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1917					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	14		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)								551				0.375	137.533212	139.263974	48	80	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	Missense_Mutation	SNP	16131071	16131071	15550	1	C	T	T	23	23	SPEN	T	1	1
ARHGEF19	128272	broad.mit.edu	36	1	16407947	16407947	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16407947G>A	uc001ayc.1	-	c.190C>T	c.(190-192)CGC>TGC	p.R64C	ARHGEF19_uc009voo.1_5'Flank|ARHGEF19_uc001ayb.1_5'Flank	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	64					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)												0.28	36.035408	38.207199	14	36	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	16407947	16407947	916	1	G	A	A	39	39	ARHGEF19	A	1	1
DUSP27	92235	broad.mit.edu	36	1	165362378	165362378	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:165362378C>T	uc001geb.1	+	c.1386C>T	c.(1384-1386)CAC>CAT	p.H462H		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	462					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3														0.4	22.096252	22.271001	8	12	CC		KEEP	---	---	---	---	capture			Silent	SNP	165362378	165362378	5009	1	C	T	T	19	19	DUSP27	T	1	1
BAT2L2	23215	broad.mit.edu	36	1	169827381	169827381	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:169827381G>A	uc001ghs.1	+	c.8226G>A	c.(8224-8226)ACG>ACA	p.T2742T	BAT2L2_uc009wwa.1_Non-coding_Transcript|BAT2L2_uc001ght.1_Non-coding_Transcript	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	2313							protein C-terminus binding				0														0.329268	70.195661	72.315371	27	55	GG		KEEP	---	---	---	---	capture			Silent	SNP	169827381	169827381	1342	1	G	A	A	38	38	BAT2L2	A	1	1
FASLG	356	broad.mit.edu	36	1	170895117	170895117	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:170895117G>A	uc001gis.1	+	c.153G>A	c.(151-153)CCG>CCA	p.P51P	FASLG_uc001git.1_Silent_p.P51P	NM_000639	NP_000630	P48023	TNFL6_HUMAN	fas ligand	51	Pro-rich.|Poly-Pro.|Cytoplasmic (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity				0						Ovarian(28;486 876 30334 44033)				69				0.294118	10.56342	11.211989	5	12	GG		KEEP	---	---	---	---	capture			Silent	SNP	170895117	170895117	5918	1	G	A	A	38	38	FASLG	A	1	1
HMCN1	83872	broad.mit.edu	36	1	184407102	184407102	+	Silent	SNP	A	G	G			TCGA-16-0848-01	TCGA-16-0848-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184407102A>G	uc001grq.1	+	c.15585A>G	c.(15583-15585)GAA>GAG	p.E5195E	HMCN1_uc001grs.1_Silent_p.E764E	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1	5195	EGF-like 3; calcium-binding (Potential).				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.418919	202.128134	202.976593	62	86	AA		KEEP	---	---	---	---	capture			Silent	SNP	184407102	184407102	7511	1	A	G	G	4	4	HMCN1	G	4	4
PRG4	10216	broad.mit.edu	36	1	184548053	184548053	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184548053G>A	uc001gru.2	+	c.3917G>A	c.(3916-3918)CGT>CAT	p.R1306H	PRG4_uc001grt.2_Missense_Mutation_p.R1265H|PRG4_uc009wyl.1_Missense_Mutation_p.R1213H|PRG4_uc009wym.1_Missense_Mutation_p.R1172H|TPR_uc001grv.1_3'UTR	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	1306		Cleavage; by subtilisin-like proprotein convertase 4 (By similarity).			cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity				0														0.151316	37.739456	55.430636	23	129	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	184548053	184548053	12924	1	G	A	A	40	40	PRG4	A	1	1
AKR7A3	22977	broad.mit.edu	36	1	19483149	19483149	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:19483149G>A	uc001bbv.1	-	c.762C>T	c.(760-762)GCC>GCT	p.A254A		NM_012067	NP_036199	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3	254					cellular aldehyde metabolic process|oxidation-reduction process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)												0.314815	90.768827	94.033282	34	74	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	19483149	19483149	479	1	G	A	A	39	39	AKR7A3	A	1	1
MOSC1	64757	broad.mit.edu	36	1	219045222	219045222	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:219045222G>A	uc001hmt.1	+	c.921G>A	c.(919-921)CCG>CCA	p.P307P	MOSC1_uc001hms.1_Silent_p.P290P	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	MOCO sulphurase C-terminal domain containing 1	290	MOSC.				oxidation-reduction process		molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0														0.290541	107.672436	113.48657	43	105	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0358)	Silent	SNP	219045222	219045222	10105	1	G	A	A	38	38	MOSC1	A	1	1
HSPG2	3339	broad.mit.edu	36	1	22078184	22078184	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22078184C>T	uc009vqd.1	-	c.2364G>A	c.(2362-2364)ACG>ACA	p.T788T	HSPG2_uc001bfj.1_Silent_p.T787T	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	787	Laminin 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)									0.394737	87.380271	88.101569	30	46	CC		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)	Silent	SNP	22078184	22078184	7730	1	C	T	T	23	23	HSPG2	T	1	1
PARP1	142	broad.mit.edu	36	1	224617468	224617468	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:224617468C>T	uc001hqd.2	-	c.2803G>A	c.(2803-2805)GCT>ACT	p.A935T		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	935	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			ovary(2)|breast(2)|lung(1)	5	Breast(184;0.133)									1012				0.367521	118.897068	120.700961	43	74	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0531)	Missense_Mutation	SNP	224617468	224617468	11871	1	C	T	T	27	27	PARP1	T	1	1
OBSCN	84033	broad.mit.edu	36	1	226533272	226533272	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226533272C>T	uc009xez.1	+	c.7119C>T	c.(7117-7119)TTC>TTT	p.F2373F	OBSCN_uc001hsn.1_Silent_p.F2373F|OBSCN_uc001hsp.1_Silent_p.F72F|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2373	Ig-like 23.				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				0.403509	63.617472	64.079931	23	34	CC		KEEP	---	---	---	---	capture			Silent	SNP	226533272	226533272	11217	1	C	T	T	31	31	OBSCN	T	1	1
OBSCN	84033	broad.mit.edu	36	1	226605707	226605707	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226605707G>A	uc009xez.1	+	c.18482G>A	c.(18481-18483)CGC>CAC	p.R6161H	OBSCN_uc001hsn.1_Missense_Mutation_p.R6161H|OBSCN_uc001hsr.1_Missense_Mutation_p.R790H|OBSCN_uc009xfa.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6161	Ig-like 53.				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				0.428571	8.423618	8.45481	3	4	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226605707	226605707	11217	1	G	A	A	38	38	OBSCN	A	1	1
SIPA1L2	57568	broad.mit.edu	36	1	230645973	230645973	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:230645973G>A	uc001hvg.1	-	c.3435C>T	c.(3433-3435)GAC>GAT	p.D1145D	SIPA1L2_uc001hvf.1_Silent_p.D219D	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1145					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)												0.54386	92.173095	92.276946	31	26	GG		KEEP	---	---	---	---	capture			Silent	SNP	230645973	230645973	14825	1	G	A	A	40	40	SIPA1L2	A	1	1
E2F2	1870	broad.mit.edu	36	1	23720991	23720991	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23720991C>T	uc001bhe.1	-	c.503G>A	c.(502-504)CGC>CAC	p.R168H		NM_004091	NP_004082	Q14209	E2F2_HUMAN	E2F transcription factor 2	168	Leucine-zipper.|DEF box.|Potential.				G1 phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|skin(2)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)												0.307692	90.532861	94.348345	36	81	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)	Missense_Mutation	SNP	23720991	23720991	5053	1	C	T	T	27	27	E2F2	T	1	1
CNR2	1269	broad.mit.edu	36	1	24074501	24074501	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:24074501C>T	uc001bif.1	-	c.194G>A	c.(193-195)CGC>CAC	p.R65H	CNR2_uc009vqu.1_Missense_Mutation_p.R65H	NM_001841	NP_001832	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	65	Cytoplasmic (Potential).				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)			Nabilone(DB00486)									0.407143	152.495449	153.533843	57	83	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Missense_Mutation	SNP	24074501	24074501	3770	1	C	T	T	27	27	CNR2	T	1	1
MAN1C1	57134	broad.mit.edu	36	1	25977392	25977392	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:25977392C>T	uc001bkm.2	+	c.1467C>T	c.(1465-1467)TAC>TAT	p.Y489Y	MAN1C1_uc009vry.1_Silent_p.Y309Y|MAN1C1_uc001bkn.2_5'Flank	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	489	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)												0.37037	54.890992	55.686159	20	34	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	Silent	SNP	25977392	25977392	9596	1	C	T	T	19	19	MAN1C1	T	1	1
ZDHHC18	84243	broad.mit.edu	36	1	27047721	27047721	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27047721C>T	uc001bnb.1	+	c.532C>T	c.(532-534)CGG>TGG	p.R178W		NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	178						integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)												0.283019	112.62044	119.337314	45	114	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)	Missense_Mutation	SNP	27047721	27047721	18196	1	C	T	T	31	31	ZDHHC18	T	1	1
MAP3K6	9064	broad.mit.edu	36	1	27561812	27561812	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27561812C>T	uc001bny.1	-	c.1162G>A	c.(1162-1164)GTA>ATA	p.V388I	MAP3K6_uc009vsw.1_Missense_Mutation_p.V380I|MAP3K6_uc001bnz.1_5'Flank	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	388					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)							p.V388I(JHUEM2-Tumor)|p.V388I(JHH5-Tumor)|p.V388I(A3KAW-Tumor)	422				0.580645	54.153167	54.329057	18	13	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	Missense_Mutation	SNP	27561812	27561812	9637	1	C	T	T	19	19	MAP3K6	T	1	1
CSMD2	114784	broad.mit.edu	36	1	33818949	33818949	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:33818949G>A	uc001bxm.1	-	c.7378C>T	c.(7378-7380)CGC>TGC	p.R2460C	CSMD2_uc001bxn.1_Missense_Mutation_p.R2462C	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2462	CUB 14.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.527778	58.028641	58.053094	19	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33818949	33818949	4086	1	G	A	A	39	39	CSMD2	A	1	1
CSMD2	114784	broad.mit.edu	36	1	34327355	34327355	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:34327355C>T	uc001bxm.1	-	c.214G>A	c.(214-216)GGT>AGT	p.G72S	CSMD2_uc001bxn.1_Missense_Mutation_p.G32S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	32	CUB 1.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.466667	62.973955	63.01707	21	24	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34327355	34327355	4086	1	C	T	T	23	23	CSMD2	T	1	1
KCNQ4	9132	broad.mit.edu	36	1	41076757	41076757	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:41076757G>A	uc001cgh.1	+	c.2063G>A	c.(2062-2064)CGC>CAC	p.R688H	KCNQ4_uc001cgi.1_Missense_Mutation_p.R634H	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein	688	Cytoplasmic.				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)												0.370166	170.577322	173.257755	67	114	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Missense_Mutation	SNP	41076757	41076757	8390	1	G	A	A	38	38	KCNQ4	A	1	1
SLC2A1	6513	broad.mit.edu	36	1	43168009	43168009	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43168009C>T	uc001cik.2	-	c.709G>A	c.(709-711)GTG>ATG	p.V237M		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	237	Cytoplasmic (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)									0.36255	247.184681	251.345152	91	160	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43168009	43168009	15035	1	C	T	T	19	19	SLC2A1	T	1	1
RNF220	55182	broad.mit.edu	36	1	44887949	44887949	+	Missense_Mutation	SNP	T	C	C			TCGA-16-0848-01	TCGA-16-0848-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:44887949T>C	uc001clv.1	+	c.1475T>C	c.(1474-1476)TTT>TCT	p.F492S	RNF220_uc001clw.1_Missense_Mutation_p.F492S|RNF220_uc001clx.1_Missense_Mutation_p.F208S|RNF220_uc001cly.1_Missense_Mutation_p.F172S|RNF220_uc001clz.1_Missense_Mutation_p.F171S|RNF220_uc001cma.1_Missense_Mutation_p.F171S|TMEM53_uc001cmb.1_Intron	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	492	Potential.				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2														0.41358	216.707403	217.76088	67	95	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44887949	44887949	13961	1	T	C	C	64	64	RNF220	C	4	4
PTCH2	8643	broad.mit.edu	36	1	45064912	45064912	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45064912G>A	uc001cms.1	-	c.2811C>T	c.(2809-2811)GCC>GCT	p.A937A		NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	937	Extracellular (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(4)|breast(3)|central_nervous_system(3)|ovary(1)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)									193				0.333333	45.459341	46.713304	17	34	GG		KEEP	---	---	---	---	capture			Silent	SNP	45064912	45064912	13185	1	G	A	A	39	39	PTCH2	A	1	1
RAD54L	8438	broad.mit.edu	36	1	46498268	46498268	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:46498268G>A	uc009vye.1	+	c.317G>A	c.(316-318)CGC>CAC	p.R106H	C1orf190_uc001cpk.1_Intron|RAD54L_uc001cpl.1_Missense_Mutation_p.R106H|RAD54L_uc001cpm.1_5'UTR	NM_003579	NP_003570	Q92698	RAD54_HUMAN	RAD54-like protein	106					meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)												0.344633	153.83646	157.602418	61	116	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	Missense_Mutation	SNP	46498268	46498268	13453	1	G	A	A	38	38	RAD54L	A	1	1
NPHP4	261734	broad.mit.edu	36	1	5961058	5961058	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:5961058G>A	uc001alq.1	-	c.138C>T	c.(136-138)GGC>GGT	p.G46G	NPHP4_uc001als.1_Non-coding_Transcript|NPHP4_uc009vlt.1_Non-coding_Transcript|NPHP4_uc001alt.1_Intron	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	46					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cilium|membrane|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)												0.416667	12.467928	12.541655	5	7	GG		KEEP	---	---	---	---	capture		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	5961058	5961058	10985	1	G	A	A	38	38	NPHP4	A	1	1
PTGER3	5733	broad.mit.edu	36	1	71285158	71285158	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:71285158C>T	uc001dfn.2	-	c.691G>A	c.(691-693)GCC>ACC	p.A231T	PTGER3_uc001dfg.1_Missense_Mutation_p.A231T|PTGER3_uc001dfh.1_Missense_Mutation_p.A231T|PTGER3_uc001dfi.1_Missense_Mutation_p.A231T|PTGER3_uc001dfk.1_Missense_Mutation_p.A231T|PTGER3_uc001dfj.1_Missense_Mutation_p.A231T|PTGER3_uc001dfl.1_Missense_Mutation_p.A231T|PTGER3_uc009wbm.1_Missense_Mutation_p.A231T|PTGER3_uc001dfm.1_Non-coding_Transcript|PTGER3_uc009wbn.1_Missense_Mutation_p.A231T|PTGER3_uc009wbo.1_Missense_Mutation_p.A231T|PTGER3_uc001dfo.1_Missense_Mutation_p.A231T|PTGER3_uc001dfp.1_Missense_Mutation_p.A231T|PTGER3_uc001dfq.1_Missense_Mutation_p.A231T	NM_198716	NP_942009	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	231	Helical; Name=5; (Potential).				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			pancreas(1)	1					Bimatoprost(DB00905)									0.338164	176.58313	181.378817	70	137	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71285158	71285158	13199	1	C	T	T	27	27	PTGER3	T	1	1
RERE	473	broad.mit.edu	36	1	8342415	8342415	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:8342415G>A	uc001ape.1	-	c.3614C>T	c.(3613-3615)GCG>GTG	p.A1205V	RERE_uc001apd.1_Missense_Mutation_p.A651V|RERE_uc001apf.1_Missense_Mutation_p.A1205V	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1205	Potential.				multicellular organismal development|NLS-bearing substrate import into nucleus|regulation of transcription, DNA-dependent	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)												0.297297	25.65587	26.990251	11	26	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	Missense_Mutation	SNP	8342415	8342415	13700	1	G	A	A	38	38	RERE	A	1	1
COL24A1	255631	broad.mit.edu	36	1	86363699	86363699	+	Missense_Mutation	SNP	T	C	C			TCGA-16-0848-01	TCGA-16-0848-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:86363699T>C	uc001dlj.1	-	c.908A>G	c.(907-909)AAA>AGA	p.K303R	COL24A1_uc001dlk.1_Non-coding_Transcript|COL24A1_uc009wcq.1_Missense_Mutation_p.K303R	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	303					cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)	4														0.333333	158.757362	162.590384	52	104	TT		KEEP	---	---	---	---	capture		all cancers(265;0.0627)|Epithelial(280;0.0689)	Missense_Mutation	SNP	86363699	86363699	3821	1	T	C	C	64	64	COL24A1	C	4	4
GBP3	2635	broad.mit.edu	36	1	89252888	89252888	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89252888C>T	uc001dmt.1	-	c.358G>A	c.(358-360)GTC>ATC	p.V120I	GBP3_uc001dmu.1_5'UTR|GBP3_uc001dmv.1_Non-coding_Transcript	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	120	Helical; (Potential).					integral to membrane	GTP binding|GTPase activity			ovary(1)|pancreas(1)	2		Lung NSC(277;0.123)												0.352113	137.317546	140.051894	50	92	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0103)|Epithelial(280;0.0293)	Missense_Mutation	SNP	89252888	89252888	6541	1	C	T	T	19	19	GBP3	T	1	1
ZNF644	84146	broad.mit.edu	36	1	91176981	91176981	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:91176981C>T	uc001dnw.1	-	c.2518G>A	c.(2518-2520)GTT>ATT	p.V840I	ZNF644_uc001dnv.1_Intron|ZNF644_uc001dnx.1_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.V840I	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	840					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)												0.408451	160.598544	161.643185	58	84	CC		KEEP	---	---	---	---	capture		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	Missense_Mutation	SNP	91176981	91176981	18655	1	C	T	T	19	19	ZNF644	T	1	1
BCAR3	8412	broad.mit.edu	36	1	93809922	93809922	+	Nonsense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:93809922G>A	uc001dpz.1	-	c.1867C>T	c.(1867-1869)CGA>TGA	p.R623*	BCAR3_uc001dpy.1_Nonsense_Mutation_p.R532*|BCAR3_uc001dqa.1_Nonsense_Mutation_p.R623*|BCAR3_uc001dqb.1_Nonsense_Mutation_p.R623*|BCAR3_uc001dpx.2_Nonsense_Mutation_p.R299*|BCAR3_uc009wdm.1_Nonsense_Mutation_p.R299*	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	623	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)												0.117187	16.794058	35.19236	15	113	GG		KEEP	---	---	---	---	capture		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	Nonsense_Mutation	SNP	93809922	93809922	1370	1	G	A	A	39	39	BCAR3	A	5	1
NRSN2	80023	broad.mit.edu	36	20	278326	278326	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:278326C>T	uc002wdi.2	+	c.39C>T	c.(37-39)CGC>CGT	p.R13R	NRSN2_uc002wdj.1_Intron|NRSN2_uc002wdk.1_Silent_p.R13R|NRSN2_uc002wdl.1_Silent_p.R12R	NM_024958	NP_079234	Q9GZP1	NRSN2_HUMAN	neurensin 2	13						integral to membrane|plasma membrane|transport vesicle					0		all_cancers(10;0.0834)												0.468085	121.685979	121.769417	44	50	CC		KEEP	---	---	---	---	capture			Silent	SNP	278326	278326	11068	20	C	T	T	27	27	NRSN2	T	1	1
COMMD7	149951	broad.mit.edu	36	20	30758183	30758183	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:30758183C>T	uc002wyb.2	-	c.282G>A	c.(280-282)GCG>GCA	p.A94A	COMMD7_uc002wya.2_Silent_p.A94A|COMMD7_uc010ged.1_Silent_p.A93A	NM_053041	NP_444269	Q86VX2	COMD7_HUMAN	COMM domain containing 7 isoform 1	94					negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding			breast(1)	1														0.311688	65.075113	67.504707	24	53	CC		KEEP	---	---	---	---	capture			Silent	SNP	30758183	30758183	3859	20	C	T	T	23	23	COMMD7	T	1	1
C20orf117	140710	broad.mit.edu	36	20	34890959	34890959	+	Missense_Mutation	SNP	T	C	C			TCGA-16-0848-01	TCGA-16-0848-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:34890959T>C	uc002xgd.1	-	c.269A>G	c.(268-270)GAG>GGG	p.E90G		NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710	90											0		Myeloproliferative disorder(115;0.00874)												0.363636	6.77357	6.962379	4	7	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34890959	34890959	2159	20	T	C	C	54	54	C20orf117	C	4	4
DHX35	60625	broad.mit.edu	36	20	37072367	37072367	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:37072367C>T	uc002xjh.1	+	c.1253C>T	c.(1252-1254)ACG>ATG	p.T418M		NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	418	Helicase C-terminal.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)												0.355932	115.417983	117.575142	42	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37072367	37072367	4687	20	C	T	T	19	19	DHX35	T	1	1
KCNB1	3745	broad.mit.edu	36	20	47532285	47532285	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:47532285C>T	uc002xur.1	-	c.140G>A	c.(139-141)CGT>CAT	p.R47H	KCNB1_uc002xus.1_Missense_Mutation_p.R47H	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	47	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)	1														0.583333	41.652559	41.798263	14	10	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Missense_Mutation	SNP	47532285	47532285	8317	20	C	T	T	19	19	KCNB1	T	1	1
LAMA5	3911	broad.mit.edu	36	20	60320175	60320175	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60320175G>A	uc002ycq.1	-	c.9696C>T	c.(9694-9696)CCC>CCT	p.P3232P		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5	3232	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding|receptor activity|structural molecule activity			pancreas(1)	1	Breast(26;1.57e-08)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.5	12.299946	12.299946	4	4	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Silent	SNP	60320175	60320175	8932	20	G	A	A	39	39	LAMA5	A	1	1
NKAIN4	128414	broad.mit.edu	36	20	61345846	61345846	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61345846G>A	uc002yek.1	-	c.507C>T	c.(505-507)AGC>AGT	p.S169S		NM_152864	NP_690603	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	169	Helical; (Potential).					integral to membrane|plasma membrane					0	all_cancers(38;2.72e-09)													0.16	7.185766	9.936381	4	21	GG		KEEP	---	---	---	---	capture			Silent	SNP	61345846	61345846	10839	20	G	A	A	38	38	NKAIN4	A	1	1
C20orf135	140701	broad.mit.edu	36	20	61963762	61963762	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61963762G>A	uc002ygx.1	+	c.425G>A	c.(424-426)CGC>CAC	p.R142H		NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	hypothetical protein LOC140701	142							hydrolase activity				0	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)													0.422222	51.319843	51.556171	19	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61963762	61963762	2165	20	G	A	A	38	38	C20orf135	A	1	1
PAK7	57144	broad.mit.edu	36	20	9468209	9468209	+	Missense_Mutation	SNP	T	C	C			TCGA-16-0848-01	TCGA-16-0848-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:9468209T>C	uc002wnl.2	-	c.2060A>G	c.(2059-2061)CAG>CGG	p.Q687R	PAK7_uc002wnk.2_Missense_Mutation_p.Q687R|PAK7_uc002wnj.2_Missense_Mutation_p.Q687R|PAK7_uc010gby.1_Missense_Mutation_p.Q600R	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	p21-activated kinase 7	687	Protein kinase.				protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(7)|skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	15										177				0.386029	292.365522	295.475574	105	167	TT		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(9;0.194)		Missense_Mutation	SNP	9468209	9468209	11821	20	T	C	C	55	55	PAK7	C	4	4
POTED	317754	broad.mit.edu	36	21	13904768	13904768	+	Silent	SNP	C	T	T	rs72483396	unknown	TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:13904768C>T	uc002yjb.1	+	c.348C>T	c.(346-348)AAC>AAT	p.N116N		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	pote protein	116						plasma membrane				ovary(3)	3														0.294118	88.419463	92.910311	35	84	CC		KEEP	---	---	---	---	capture			Silent	SNP	13904768	13904768	12693	21	C	T	T	19	19	POTED	T	1	1
TIAM1	7074	broad.mit.edu	36	21	31560755	31560755	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:31560755G>A	uc002yow.1	-	c.405C>T	c.(403-405)TAC>TAT	p.Y135Y	TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	135					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|lung(1)	5										780				0.367925	104.197481	105.822506	39	67	GG		KEEP	---	---	---	---	capture			Silent	SNP	31560755	31560755	16418	21	G	A	A	40	40	TIAM1	A	1	1
CHAF1B	8208	broad.mit.edu	36	21	36696952	36696952	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:36696952C>T	uc002yvj.1	+	c.690C>T	c.(688-690)GAC>GAT	p.D230D		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	chromatin assembly factor 1 subunit B	230	WD 5.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin assembly complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			ovary(1)	1														0.254613	159.442729	174.255814	69	202	CC		KEEP	---	---	---	---	capture			Silent	SNP	36696952	36696952	3446	21	C	T	T	19	19	CHAF1B	T	1	1
COL6A1	1291	broad.mit.edu	36	21	46248233	46248233	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46248233G>A	uc002zhu.1	+	c.2965G>A	c.(2965-2967)GGC>AGC	p.G989S	COL6A1_uc010gqd.1_Missense_Mutation_p.G320S|COL6A1_uc002zhv.1_Missense_Mutation_p.G320S|COL6A1_uc002zhw.1_Missense_Mutation_p.G83S	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	989	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)				Palifermin(DB00039)									0.151261	26.979736	40.849678	18	101	GG		KEEP	---	---	---	---	capture		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Missense_Mutation	SNP	46248233	46248233	3837	21	G	A	A	39	39	COL6A1	A	1	1
MCM3AP	8888	broad.mit.edu	36	21	46517111	46517111	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46517111G>A	uc002zir.1	-	c.2257C>T	c.(2257-2259)CGG>TGG	p.R753W		NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	753					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)									639				0.373134	149.012752	150.907664	50	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46517111	46517111	9777	21	G	A	A	39	39	MCM3AP	A	1	1
DIP2A	23181	broad.mit.edu	36	21	46755936	46755936	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46755936C>T	uc002zjo.1	+	c.1083C>T	c.(1081-1083)GCC>GCT	p.A361A	DIP2A_uc002zjn.1_Silent_p.A361A|DIP2A_uc002zjl.1_Silent_p.A361A|DIP2A_uc002zjm.1_Silent_p.A361A|DIP2A_uc010gql.1_Silent_p.A318A|DIP2A_uc002zjp.1_Silent_p.A106A	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	DIP2-like protein isoform a	361					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)													0.333333	13.270775	13.639397	5	10	CC		KEEP	---	---	---	---	capture		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	Silent	SNP	46755936	46755936	4706	21	C	T	T	23	23	DIP2A	T	1	1
CECR2	27443	broad.mit.edu	36	22	16402148	16402148	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:16402148C>T	uc010gqw.1	+	c.2250C>T	c.(2248-2250)GCC>GCT	p.A750A	CECR2_uc010gqv.1_Silent_p.A609A|CECR2_uc002zml.2_Silent_p.A609A	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	792					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)												0.5	93.250247	93.250247	30	30	CC		KEEP	---	---	---	---	capture		Lung(27;0.146)	Silent	SNP	16402148	16402148	3339	22	C	T	T	23	23	CECR2	T	1	1
GSTT1	2952	broad.mit.edu	36	22	22709438	22709438	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:22709438G>A	uc002zze.2	-	c.274C>T	c.(274-276)CGT>TGT	p.R92C	GSTT1_uc002zzf.2_Non-coding_Transcript|GSTT1_uc010gug.1_Non-coding_Transcript|GSTT1_uc002zzg.2_Non-coding_Transcript|GSTT1_uc010guh.1_Intron	NM_000853	NP_000844	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	92	GST C-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			ovary(1)	1					Glutathione(DB00143)									0.367816	89.68341	91.017005	32	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22709438	22709438	7125	22	G	A	A	39	39	GSTT1	A	1	1
GGT1	2678	broad.mit.edu	36	22	23349109	23349109	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:23349109C>T	uc003aan.1	+	c.769C>T	c.(769-771)CGT>TGT	p.R257C	GGT1_uc003aas.1_Missense_Mutation_p.R257C|GGT1_uc003aat.1_Missense_Mutation_p.R257C|GGT1_uc003aau.1_Missense_Mutation_p.R257C|GGT1_uc003aav.1_Missense_Mutation_p.R257C|GGT1_uc003aaw.1_Missense_Mutation_p.R257C|GGT1_uc003aax.1_Missense_Mutation_p.R257C	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	257	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)									0.382353	37.269183	37.68098	13	21	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23349109	23349109	6629	22	C	T	T	23	23	GGT1	T	1	1
SGSM1	129049	broad.mit.edu	36	22	23581579	23581579	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:23581579G>A	uc003abg.2	+	c.733G>A	c.(733-735)GTG>ATG	p.V245M	SGSM1_uc003abh.2_Missense_Mutation_p.V245M|SGSM1_uc010guu.1_Missense_Mutation_p.V245M|SGSM1_uc003abj.2_Missense_Mutation_p.V245M|SGSM1_uc003abi.1_Missense_Mutation_p.V220M|SGSM1_uc003abf.2_Missense_Mutation_p.V245M	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	245						Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5														0.291667	33.815558	35.692954	14	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23581579	23581579	14713	22	G	A	A	40	40	SGSM1	A	1	1
KCNJ4	3761	broad.mit.edu	36	22	37153471	37153471	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:37153471G>A	uc003avs.1	-	c.613C>T	c.(613-615)CGC>TGC	p.R205C	KCNJ4_uc003avt.1_Missense_Mutation_p.R205C|KCNJ4_uc010gxo.1_Missense_Mutation_p.R205C	NM_004981	NP_690607	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	205	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)													0.115385	8.143049	19.489675	9	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37153471	37153471	8358	22	G	A	A	38	38	KCNJ4	A	1	1
XRCC6	2547	broad.mit.edu	36	22	40373015	40373015	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40373015G>A	uc003bao.1	+	c.943G>A	c.(943-945)GAT>AAT	p.D315N	XRCC6_uc003bap.1_Missense_Mutation_p.D274N|XRCC6_uc003baq.1_Missense_Mutation_p.D315N|XRCC6_uc003bar.1_Missense_Mutation_p.D315N|XRCC6_uc003bas.1_Missense_Mutation_p.D265N	NM_001469	NP_001460	P12956	XRCC6_HUMAN	ATP-dependent DNA helicase II, 70 kDa subunit	315	Ku.				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of gene-specific transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|transcription activator activity			skin(2)|ovary(1)|kidney(1)	4														0.473684	235.146118	235.24998	81	90	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40373015	40373015	18040	22	G	A	A	37	37	XRCC6	A	1	1
A4GALT	53947	broad.mit.edu	36	22	41419574	41419574	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:41419574C>T	uc003bdb.1	-	c.328G>A	c.(328-330)GTG>ATG	p.V110M	A4GALT_uc010gzd.1_Missense_Mutation_p.V110M|A4GALT_uc010gze.1_Missense_Mutation_p.V110M	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	110	Lumenal (Potential).				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			central_nervous_system(1)	1														0.316017	185.381964	192.343666	73	158	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41419574	41419574	7	22	C	T	T	19	19	A4GALT	T	1	1
TGFBRAP1	9392	broad.mit.edu	36	2	105252394	105252394	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:105252394G>A	uc002tcq.1	-	c.2173C>T	c.(2173-2175)CAT>TAT	p.H725Y	TGFBRAP1_uc010fjc.1_Missense_Mutation_p.H494Y|TGFBRAP1_uc002tcr.2_Missense_Mutation_p.H725Y	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	725					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						Esophageal Squamous(183;794 2019 9730 21801 48859)								0.321429	21.963967	22.75768	9	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105252394	105252394	16352	2	G	A	A	46	46	TGFBRAP1	A	2	2
ROCK2	9475	broad.mit.edu	36	2	11251405	11251405	+	Missense_Mutation	SNP	T	A	A			TCGA-16-0848-01	TCGA-16-0848-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:11251405T>A	uc002rbd.1	-	c.3638A>T	c.(3637-3639)CAG>CTG	p.Q1213L		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	1213	PH.				axon guidance|cytokinesis|intracellular signal transduction|protein phosphorylation	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			skin(2)|stomach(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)									587				0.461538	76.096231	76.163048	24	28	TT		KEEP	---	---	---	---	capture		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	Missense_Mutation	SNP	11251405	11251405	13997	2	T	A	A	55	55	ROCK2	A	4	4
CHCHD5	84269	broad.mit.edu	36	2	113060324	113060324	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:113060324G>A	uc002thz.1	+	c.220G>A	c.(220-222)GCA>ACA	p.A74T	CHCHD5_uc002tia.1_Missense_Mutation_p.A74T	NM_032309	NP_115685	Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain	74	CHCH.										0														0.106796	7.357608	23.205943	11	92	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113060324	113060324	3453	2	G	A	A	42	42	CHCHD5	A	2	2
MARCO	8685	broad.mit.edu	36	2	119444220	119444220	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:119444220C>T	uc002tln.1	+	c.260C>T	c.(259-261)GCG>GTG	p.A87V		NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	87	Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4						GBM(8;18 374 7467 11269 32796)								0.376	128.899126	130.583991	47	78	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119444220	119444220	9694	2	C	T	T	27	27	MARCO	T	1	1
CNTNAP5	129684	broad.mit.edu	36	2	125376997	125376997	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:125376997G>A	uc002tno.1	+	c.3502G>A	c.(3502-3504)GTC>ATC	p.V1168I		NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1168	Extracellular (Potential).|Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.V1168I(1)		ovary(10)	10														0.363636	32.391401	32.931067	12	21	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.248)	Missense_Mutation	SNP	125376997	125376997	3788	2	G	A	A	40	40	CNTNAP5	A	1	1
RIF1	55183	broad.mit.edu	36	2	152028611	152028611	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:152028611G>A	uc002txm.1	+	c.4331G>A	c.(4330-4332)CGT>CAT	p.R1444H	RIF1_uc002txp.2_Non-coding_Transcript|RIF1_uc002txl.1_Missense_Mutation_p.R1444H|RIF1_uc002txn.1_Missense_Mutation_p.R1444H|RIF1_uc002txo.1_Missense_Mutation_p.R1444H	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1444					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|lung(2)|kidney(1)	12										950				0.384615	69.062626	69.820028	25	40	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0429)	Missense_Mutation	SNP	152028611	152028611	13834	2	G	A	A	40	40	RIF1	A	1	1
TANC1	85461	broad.mit.edu	36	2	159736948	159736948	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:159736948C>T	uc002uag.1	+	c.1422C>T	c.(1420-1422)AGC>AGT	p.S474S	TANC1_uc010fol.1_Silent_p.S368S|TANC1_uc010fom.1_Silent_p.S280S	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	474						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3														0.343434	87.012194	89.159492	34	65	CC		KEEP	---	---	---	---	capture			Silent	SNP	159736948	159736948	16065	2	C	T	T	25	25	TANC1	T	2	2
DPP4	1803	broad.mit.edu	36	2	162573344	162573344	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:162573344G>A	uc002ubz.1	-	c.1961C>T	c.(1960-1962)GCG>GTG	p.A654V	DPP4_uc010fpb.1_Missense_Mutation_p.A330V	NM_001935	NP_001926	P27487	DPP4_HUMAN	dipeptidylpeptidase IV	654	Extracellular (Potential).				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)									0.36	97.772212	99.497647	36	64	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	162573344	162573344	4913	2	G	A	A	38	38	DPP4	A	1	1
IFIH1	64135	broad.mit.edu	36	2	162847307	162847307	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:162847307C>T	uc002uce.1	-	c.1121G>A	c.(1120-1122)CGC>CAC	p.R374H		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	374	Helicase ATP-binding.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|regulation of apoptosis|response to virus	cytosol|nucleus	ATP binding|DNA binding|helicase activity|protein binding|ribonucleoprotein binding|RNA binding|zinc ion binding			ovary(1)	1														0.48	35.608053	35.616007	12	13	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	162847307	162847307	7821	2	C	T	T	27	27	IFIH1	T	1	1
SLC38A11	151258	broad.mit.edu	36	2	165504285	165504285	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:165504285C>T	uc002ucv.1	-	c.290G>A	c.(289-291)CGC>CAC	p.R97H	SLC38A11_uc002ucu.1_Missense_Mutation_p.R75H|SLC38A11_uc002ucw.1_Missense_Mutation_p.R97H	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	97	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1														0.268293	27.611302	29.595581	11	30	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	165504285	165504285	15100	2	C	T	T	27	27	SLC38A11	T	1	1
SCN2A	6326	broad.mit.edu	36	2	165880242	165880242	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:165880242G>A	uc002udc.1	+	c.1399G>A	c.(1399-1401)GCA>ACA	p.A467T	SCN2A_uc002udd.1_Missense_Mutation_p.A467T|SCN2A_uc002ude.1_Missense_Mutation_p.A467T	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	467					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)									0.125	12.606539	26.898343	13	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	165880242	165880242	14398	2	G	A	A	38	38	SCN2A	A	1	1
LRP2	4036	broad.mit.edu	36	2	169693815	169693815	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169693815C>T	uc002ues.1	-	c.13754G>A	c.(13753-13755)CGA>CAA	p.R4585Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4585	Cytoplasmic (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				0.411765	162.497803	163.415633	56	80	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Missense_Mutation	SNP	169693815	169693815	9329	2	C	T	T	31	31	LRP2	T	1	1
GAD1	2571	broad.mit.edu	36	2	171410267	171410267	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:171410267G>A	uc002ugi.1	+	c.757G>A	c.(757-759)GCC>ACC	p.A253T		NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	253					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)									0.453782	156.045109	156.264715	54	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	171410267	171410267	6430	2	G	A	A	38	38	GAD1	A	1	1
RAD51AP2	729475	broad.mit.edu	36	2	17561427	17561427	+	Silent	SNP	T	A	A			TCGA-16-0848-01	TCGA-16-0848-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:17561427T>A	uc002rcl.1	-	c.1737A>T	c.(1735-1737)CTA>CTT	p.L579L	RAD51AP2_uc010exn.1_Silent_p.L570L	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	579										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.478261	34.02435	34.033745	11	12	TT		KEEP	---	---	---	---	capture			Silent	SNP	17561427	17561427	13447	2	T	A	A	49	49	RAD51AP2	A	4	4
TTN	7273	broad.mit.edu	36	2	179161051	179161051	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179161051G>A	uc002umr.1	-	c.55625C>T	c.(55624-55626)GCG>GTG	p.A18542V	TTN_uc002ums.1_Missense_Mutation_p.A12237V|TTN_uc010frc.1_Missense_Mutation_p.A12170V|TTN_uc010frd.1_Missense_Mutation_p.A12045V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19469										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									p.A18542V(HEC59-Tumor)	8722				0.411765	96.105215	96.683931	35	50	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179161051	179161051	17290	2	G	A	A	38	38	TTN	A	1	1
SESTD1	91404	broad.mit.edu	36	2	179688167	179688167	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179688167C>T	uc002uni.2	-	c.1709G>A	c.(1708-1710)CGC>CAC	p.R570H	SESTD1_uc002unh.2_Missense_Mutation_p.R73H	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	570	Spectrin 3.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1														0.384615	41.116114	41.571104	15	24	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		Missense_Mutation	SNP	179688167	179688167	14615	2	C	T	T	27	27	SESTD1	T	1	1
FSIP2	401024	broad.mit.edu	36	2	186381736	186381736	+	Silent	SNP	T	C	C			TCGA-16-0848-01	TCGA-16-0848-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:186381736T>C	uc002upn.1	+	c.3552T>C	c.(3550-3552)AAT>AAC	p.N1184N	FSIP2_uc002upm.1_Intron	NM_207482	NP_997365			hypothetical protein LOC401024												0														0.318182	83.174834	85.757375	28	60	TT		KEEP	---	---	---	---	capture			Silent	SNP	186381736	186381736	6326	2	T	C	C	49	49	FSIP2	C	4	4
HECW2	57520	broad.mit.edu	36	2	196898009	196898009	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:196898009G>A	uc002utm.1	-	c.681C>T	c.(679-681)CAC>CAT	p.H227H	HECW2_uc002utl.1_De_novo_Start_InFrame	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	227	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			ovary(5)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	9														0.36858	329.864922	334.887945	122	209	GG		KEEP	---	---	---	---	capture			Silent	SNP	196898009	196898009	7326	2	G	A	A	40	40	HECW2	A	1	1
RFTN2	130132	broad.mit.edu	36	2	198219509	198219509	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:198219509C>T	uc002uuo.2	-	c.266G>A	c.(265-267)CGA>CAA	p.R89Q		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	89						plasma membrane					0														0.139896	35.211872	59.38665	27	166	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	198219509	198219509	13731	2	C	T	T	31	31	RFTN2	T	1	1
ABI2	10152	broad.mit.edu	36	2	204000177	204000177	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:204000177G>A	uc002vaa.1	+	c.1399G>A	c.(1399-1401)GAA>AAA	p.E467K	ABI2_uc002uzz.1_Missense_Mutation_p.E429K|ABI2_uc002vab.1_Missense_Mutation_p.E355K|ABI2_uc002vac.1_Missense_Mutation_p.E253K	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	467	SH3.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding				0														0.3	55.74656	58.248921	21	49	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	204000177	204000177	90	2	G	A	A	41	41	ABI2	A	2	2
CTDSP1	58190	broad.mit.edu	36	2	218977268	218977268	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:218977268C>T	uc002vhy.1	+	c.662C>T	c.(661-663)CCG>CTG	p.P221L	CTDSP1_uc002vhx.1_Missense_Mutation_p.P220L|CTDSP1_uc002vhz.1_Missense_Mutation_p.P80L	NM_021198	NP_067021	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	221	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			ovary(1)	1		Renal(207;0.0915)												0.356589	129.214368	131.551212	46	83	CC		KEEP	---	---	---	---	capture		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	218977268	218977268	4162	2	C	T	T	23	23	CTDSP1	T	1	1
PAX3	5077	broad.mit.edu	36	2	222774376	222774376	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:222774376C>T	uc002vmt.1	-	c.1450G>A	c.(1450-1452)GCT>ACT	p.A484T	PAX3_uc002vmy.1_Missense_Mutation_p.A483T|PAX3_uc002vmv.1_Missense_Mutation_p.A484T|PAX3_uc002vmw.1_Silent_p.S401S|PAX3_uc002vmx.1_Silent_p.S401S	NM_181459	NP_852124	P23760	PAX3_HUMAN	paired box 3 isoform PAX3e	Error:Variant_position_missing_in_P23760_after_alignment					apoptosis|organ morphogenesis|positive regulation of gene-specific transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)	765		Renal(207;0.0183)								141				0.316456	65.550352	67.915224	25	54	CC		KEEP	---	---	---	---	capture		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	222774376	222774376	11900	2	C	T	T	27	27	PAX3	T	1	1
DOCK10	55619	broad.mit.edu	36	2	225360304	225360304	+	Nonsense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:225360304G>A	uc010fwz.1	-	c.5473C>T	c.(5473-5475)CGA>TGA	p.R1825*	DOCK10_uc002vob.2_Nonsense_Mutation_p.R1819*|DOCK10_uc002voc.1_Nonsense_Mutation_p.R278*	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1825	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)												0.404878	236.290872	237.909802	83	122	GG		KEEP	---	---	---	---	capture		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	Nonsense_Mutation	SNP	225360304	225360304	4869	2	G	A	A	38	38	DOCK10	A	5	1
INPP5D	3635	broad.mit.edu	36	2	233778020	233778020	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233778020G>A	uc002vtv.1	+	c.3485G>A	c.(3484-3486)CGC>CAC	p.R1162H	INPP5D_uc002vtw.1_Missense_Mutation_p.R1161H	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	1162					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)				NSCLC(82;1215 1426 16163 20348 41018)			p.R1162H(JHH7-Tumor)	816				0.333333	14.84615	15.287889	6	12	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	Missense_Mutation	SNP	233778020	233778020	8057	2	G	A	A	38	38	INPP5D	A	1	1
USP40	55230	broad.mit.edu	36	2	234096651	234096651	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234096651G>A	uc002vum.1	-	c.1895C>T	c.(1894-1896)ACG>ATG	p.T632M		NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin specific protease 40	701					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)	1		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)												0.373391	230.329208	233.583407	87	146	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	Missense_Mutation	SNP	234096651	234096651	17636	2	G	A	A	40	40	USP40	A	1	1
AGAP1	116987	broad.mit.edu	36	2	236693598	236693598	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:236693598G>A	uc002vvs.1	+	c.2138G>A	c.(2137-2139)CGT>CAT	p.R713H	AGAP1_uc002vvt.1_Missense_Mutation_p.R660H	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	713	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)	2														0.243243	39.419318	43.863346	18	56	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	236693598	236693598	368	2	G	A	A	40	40	AGAP1	A	1	1
ITSN2	50618	broad.mit.edu	36	2	24385117	24385117	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:24385117C>T	uc002rfe.1	-	c.663G>A	c.(661-663)TCG>TCA	p.S221S	ITSN2_uc002rff.1_Silent_p.S221S|ITSN2_uc002rfg.1_Silent_p.S221S|ITSN2_uc010eyd.1_Silent_p.S247S	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	222					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.345238	78.458097	80.230637	29	55	CC		KEEP	---	---	---	---	capture			Silent	SNP	24385117	24385117	8231	2	C	T	T	31	31	ITSN2	T	1	1
CYP1B1	1545	broad.mit.edu	36	2	38155797	38155797	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:38155797C>T	uc002rqo.2	-	c.239G>A	c.(238-240)CGC>CAC	p.R80H		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	80					oxidation-reduction process|visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)					68				0.35	17.218808	17.615859	7	13	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38155797	38155797	4316	2	C	T	T	27	27	CYP1B1	T	1	1
MSH6	2956	broad.mit.edu	36	2	47876704	47876704	+	Nonsense_Mutation	SNP	G	T	T			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:47876704G>T	uc002rwd.2	+	c.625G>T	c.(625-627)GAG>TAG	p.E209*	MSH6_uc002rwc.2_Nonsense_Mutation_p.E209*|MSH6_uc010fbj.1_Intron	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	209	Poly-Glu.				determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|endometrium(28)|central_nervous_system(27)|stomach(21)|haematopoietic_and_lymphoid_tissue(9)|skin(6)|urinary_tract(5)|lung(5)|ovary(3)|breast(2)|thyroid(1)	160		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)								517				0.272727	26.976832	29.028524	12	32	GG		KEEP	---	---	---	---	capture	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Nonsense_Mutation	SNP	47876704	47876704	10267	2	G	T	T	41	41	MSH6	T	5	3
BCL11A	53335	broad.mit.edu	36	2	60542455	60542455	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:60542455C>T	uc002sae.1	-	c.1096G>A	c.(1096-1098)GCC>ACC	p.A366T	BCL11A_uc002sab.1_Missense_Mutation_p.A366T|BCL11A_uc002sac.1_Intron|BCL11A_uc002sad.1_Missense_Mutation_p.A214T|BCL11A_uc002saf.1_Missense_Mutation_p.A332T	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	366	Pro-rich.				protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(1)|skin(1)	11										131				0.182609	32.431262	43.230794	21	94	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		Missense_Mutation	SNP	60542455	60542455	1384	2	C	T	T	27	27	BCL11A	T	1	1
ETAA1	54465	broad.mit.edu	36	2	67485224	67485224	+	Missense_Mutation	SNP	A	T	T			TCGA-16-0848-01	TCGA-16-0848-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:67485224A>T	uc002sdz.1	+	c.1906A>T	c.(1906-1908)ATA>TTA	p.I636L		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	636						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4														0.411765	104.112411	104.689432	35	50	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67485224	67485224	5460	2	A	T	T	16	16	ETAA1	T	4	4
CYP26B1	56603	broad.mit.edu	36	2	72213766	72213766	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:72213766G>A	uc002sih.1	-	c.1040C>T	c.(1039-1041)ACG>ATG	p.T347M		NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	347					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|oxidation-reduction process|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding				0														0.403226	69.762373	70.269926	25	37	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72213766	72213766	4321	2	G	A	A	40	40	CYP26B1	A	1	1
RTKN	6242	broad.mit.edu	36	2	74511269	74511269	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74511269C>T	uc002sle.1	-	c.355G>A	c.(355-357)GGC>AGC	p.G119S	RTKN_uc002slc.1_Missense_Mutation_p.G106S|RTKN_uc002sld.1_Missense_Mutation_p.G69S	NM_001015055	NP_001015056	Q9BST9	RTKN_HUMAN	rhotekin isoform a	119					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity				0														0.453125	81.27345	81.394501	29	35	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74511269	74511269	14202	2	C	T	T	23	23	RTKN	T	1	1
MOGS	7841	broad.mit.edu	36	2	74543538	74543538	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74543538G>A	uc010ffj.1	-	c.886C>T	c.(886-888)CGC>TGC	p.R296C	MOGS_uc010ffh.1_Missense_Mutation_p.R21C|MOGS_uc010ffi.1_Missense_Mutation_p.R190C	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	296	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0														0.345679	293.028899	299.829078	112	212	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74543538	74543538	10088	2	G	A	A	40	40	MOGS	A	1	1
CCDC142	84865	broad.mit.edu	36	2	74555231	74555231	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74555231G>A	uc002slr.1	-	c.2203C>T	c.(2203-2205)CGT>TGT	p.R735C	MRPL53_uc002sln.1_5'Flank|CCDC142_uc002slo.1_Intron|CCDC142_uc002slp.1_3'UTR|CCDC142_uc002slq.1_Missense_Mutation_p.R728C	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	735										central_nervous_system(1)	1														0.27027	21.867205	23.6123	10	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74555231	74555231	2896	2	G	A	A	39	39	CCDC142	A	1	1
ELMOD3	84173	broad.mit.edu	36	2	85450444	85450444	+	Missense_Mutation	SNP	G	C	C			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:85450444G>C	uc010fgh.1	+	c.340G>C	c.(340-342)GTG>CTG	p.V114L	ELMOD3_uc010fgg.1_Intron|ELMOD3_uc002spf.2_Missense_Mutation_p.V114L|ELMOD3_uc002spg.2_Missense_Mutation_p.V114L|ELMOD3_uc002sph.2_Missense_Mutation_p.V114L	NM_032213	NP_115589	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform a	114					phagocytosis	cytoskeleton				ovary(2)	2														0.374101	164.667987	166.601653	52	87	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85450444	85450444	5262	2	G	C	C	48	48	ELMOD3	C	3	3
ADRA2B	151	broad.mit.edu	36	2	96145303	96145303	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:96145303C>T	uc002svi.1	-	c.313G>A	c.(313-315)GCC>ACC	p.A105T		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	105	Helical; Name=3; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)									0.361111	35.332093	35.915242	13	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96145303	96145303	339	2	C	T	T	27	27	ADRA2B	T	1	1
CNGA3	1261	broad.mit.edu	36	2	98379469	98379469	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:98379469C>T	uc002syt.1	+	c.1404C>T	c.(1402-1404)ATC>ATT	p.I468I	CNGA3_uc002syu.1_Silent_p.I450I|CNGA3_uc010fij.1_Silent_p.I472I	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	468					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)	5														0.413043	55.018335	55.321529	19	27	CC		KEEP	---	---	---	---	capture			Silent	SNP	98379469	98379469	3736	2	C	T	T	31	31	CNGA3	T	1	1
CCDC80	151887	broad.mit.edu	36	3	113840689	113840689	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:113840689C>T	uc003dzf.1	-	c.754G>A	c.(754-756)GTT>ATT	p.V252I	CCDC80_uc003dzg.1_Missense_Mutation_p.V252I|CCDC80_uc003dzh.1_Missense_Mutation_p.V252I	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1	252										ovary(2)	2														0.34715	169.967079	173.946622	67	126	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113840689	113840689	2978	3	C	T	T	19	19	CCDC80	T	1	1
ATP6V1A	523	broad.mit.edu	36	3	114996432	114996432	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:114996432C>T	uc003eao.1	+	c.1012C>T	c.(1012-1014)CGT>TGT	p.R338C		NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	338					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(2)	2														0.381643	232.288535	234.826649	79	128	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114996432	114996432	1196	3	C	T	T	23	23	ATP6V1A	T	1	1
GRAMD1C	54762	broad.mit.edu	36	3	115135141	115135141	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:115135141G>A	uc003eaq.2	+	c.1303G>A	c.(1303-1305)GTG>ATG	p.V435M	GRAMD1C_uc003eap.1_Missense_Mutation_p.V164M|GRAMD1C_uc003ear.1_Missense_Mutation_p.V268M|GRAMD1C_uc003eas.1_Missense_Mutation_p.V230M|GRAMD1C_uc003eat.1_Missense_Mutation_p.V94M	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	435						integral to membrane				ovary(2)	2														0.354331	116.830301	119.208614	45	82	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	115135141	115135141	7025	3	G	A	A	40	40	GRAMD1C	A	1	1
ZBTB20	26137	broad.mit.edu	36	3	115540668	115540668	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:115540668G>A	uc003ebi.1	-	c.2100C>T	c.(2098-2100)CGC>CGT	p.R700R	ZBTB20_uc003ebj.1_Silent_p.R627R|ZBTB20_uc010hqp.1_Silent_p.R627R|ZBTB20_uc003ebk.1_Silent_p.R627R|ZBTB20_uc003ebl.1_Silent_p.R627R|ZBTB20_uc003ebm.1_Silent_p.R627R|ZBTB20_uc003ebn.1_Silent_p.R627R	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	700					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4						NSCLC(69;748 1344 9802 11203 30933)								0.382114	126.797319	128.295269	47	76	GG		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	Silent	SNP	115540668	115540668	18115	3	G	A	A	38	38	ZBTB20	A	1	1
MYLK	4638	broad.mit.edu	36	3	124910262	124910262	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:124910262G>A	uc003ego.1	-	c.2113C>T	c.(2113-2115)CGC>TGC	p.R705C	MYLK_uc003egp.1_Missense_Mutation_p.R636C|MYLK_uc003egq.1_Missense_Mutation_p.R705C|MYLK_uc003egr.1_Missense_Mutation_p.R636C|MYLK_uc003egs.1_Missense_Mutation_p.R529C	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	705	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction|protein phosphorylation	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)	6		Lung NSC(201;0.0496)								766				0.351562	120.453811	122.933049	45	83	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0736)	Missense_Mutation	SNP	124910262	124910262	10451	3	G	A	A	39	39	MYLK	A	1	1
KALRN	8997	broad.mit.edu	36	3	125647804	125647804	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:125647804C>T	uc003ehg.1	+	c.3414C>T	c.(3412-3414)AGC>AGT	p.S1138S	KALRN_uc010hrv.1_Silent_p.S1129S|KALRN_uc003ehf.1_Silent_p.S1138S|KALRN_uc003ehh.1_Silent_p.S484S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1138	Spectrin 5.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)	5									p.S1138R(NCIH2342-Tumor)	1865				0.307692	31.389467	32.672986	12	27	CC		KEEP	---	---	---	---	capture			Silent	SNP	125647804	125647804	8279	3	C	T	T	27	27	KALRN	T	1	1
CEP63	80254	broad.mit.edu	36	3	135750677	135750677	+	Missense_Mutation	SNP	A	G	G			TCGA-16-0848-01	TCGA-16-0848-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:135750677A>G	uc003eqo.1	+	c.1151A>G	c.(1150-1152)CAT>CGT	p.H384R	CEP63_uc003eql.1_Missense_Mutation_p.H338R|CEP63_uc003eqm.1_Missense_Mutation_p.H338R|CEP63_uc003eqn.1_Missense_Mutation_p.H384R|CEP63_uc003eqp.1_Missense_Mutation_p.H13R	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	384	Potential.				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1														0.470588	73.996969	74.035245	24	27	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135750677	135750677	3390	3	A	G	G	8	8	CEP63	G	4	4
STAG1	10274	broad.mit.edu	36	3	137635179	137635179	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:137635179C>T	uc003era.1	-	c.1559G>A	c.(1558-1560)CGT>CAT	p.R520H	STAG1_uc003erb.1_Missense_Mutation_p.R520H|STAG1_uc003erc.1_Missense_Mutation_p.R294H|STAG1_uc010hua.1_Missense_Mutation_p.R383H	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	520					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2														0.295455	34.06964	35.709637	13	31	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	137635179	137635179	15760	3	C	T	T	19	19	STAG1	T	1	1
IL20RB	53833	broad.mit.edu	36	3	138182086	138182086	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:138182086G>A	uc003eri.1	+	c.177G>A	c.(175-177)GCG>GCA	p.A59A	IL20RB_uc003erj.1_Non-coding_Transcript|IL20RB_uc010hud.1_5'UTR	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta precursor	59	Fibronectin type-III 1.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)	1														0.38843	252.5876	255.22815	94	148	GG		KEEP	---	---	---	---	capture			Silent	SNP	138182086	138182086	7970	3	G	A	A	38	38	IL20RB	A	1	1
KCNAB1	7881	broad.mit.edu	36	3	157321266	157321266	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:157321266C>T	uc003far.2	+	c.172C>T	c.(172-174)CGT>TGT	p.R58C		NM_172160	NP_751892	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related	58					oxidation-reduction process	cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)	3														0.380952	109.978733	111.282191	40	65	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		Missense_Mutation	SNP	157321266	157321266	8314	3	C	T	T	27	27	KCNAB1	T	1	1
GALNTL2	117248	broad.mit.edu	36	3	16217260	16217260	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:16217260C>T	uc003car.2	+	c.837C>T	c.(835-837)CTC>CTT	p.L279L	GALNTL2_uc003caq.2_Silent_p.L12L	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	279	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1														0.43038	99.141272	99.47421	34	45	CC		KEEP	---	---	---	---	capture			Silent	SNP	16217260	16217260	6486	3	C	T	T	31	31	GALNTL2	T	1	1
MRPL47	57129	broad.mit.edu	36	3	180793220	180793220	+	Missense_Mutation	SNP	G	C	C			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:180793220G>C	uc003fjz.1	-	c.535C>G	c.(535-537)CAC>GAC	p.H179D	MRPL47_uc003fka.1_Missense_Mutation_p.H69D|MRPL47_uc003fkb.1_Missense_Mutation_p.H159D	NM_020409	NP_817125	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47 isoform a	179					translation	mitochondrial ribosome	structural constituent of ribosome				0	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)													0.285714	6.989016	7.569867	4	10	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		Missense_Mutation	SNP	180793220	180793220	10204	3	G	C	C	46	46	MRPL47	C	3	3
LRCH3	84859	broad.mit.edu	36	3	199047076	199047076	+	Nonsense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:199047076C>T	uc003fyj.1	+	c.1237C>T	c.(1237-1239)CGA>TGA	p.R413*	LRCH3_uc003fyk.1_Nonsense_Mutation_p.R8*	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH)	413						extracellular region				ovary(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)													0.345865	120.308596	123.098812	46	87	CC		KEEP	---	---	---	---	capture	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	Nonsense_Mutation	SNP	199047076	199047076	9307	3	C	T	T	27	27	LRCH3	T	5	1
KAT2B	8850	broad.mit.edu	36	3	20088935	20088935	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:20088935G>A	uc003cbq.1	+	c.410G>A	c.(409-411)CGG>CAG	p.R137Q		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	137					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	p.R137W(1)		ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.357542	178.060188	181.254905	64	115	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20088935	20088935	8286	3	G	A	A	39	39	KAT2B	A	1	1
SLC22A13	9390	broad.mit.edu	36	3	38293537	38293537	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38293537G>A	uc003chz.2	+	c.1477G>A	c.(1477-1479)GGC>AGC	p.G493S		NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion	493	Helical; (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity			skin(1)	1														0.294118	13.369623	14.013742	5	12	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)	Missense_Mutation	SNP	38293537	38293537	14940	3	G	A	A	39	39	SLC22A13	A	1	1
TTC21A	199223	broad.mit.edu	36	3	39134585	39134585	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:39134585C>T	uc003cje.2	+	c.738C>T	c.(736-738)AGC>AGT	p.S246S	TTC21A_uc003cja.2_Silent_p.S246S|TTC21A_uc010hho.1_Silent_p.S168S|TTC21A_uc003cjb.2_3'UTR|TTC21A_uc003cjc.2_Silent_p.S246S|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_001105513	NP_001098983	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 1	246	TPR 5.						binding			ovary(1)	1														0.325301	134.893614	139.388688	54	112	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	Silent	SNP	39134585	39134585	17241	3	C	T	T	25	25	TTC21A	T	2	2
ZNF621	285268	broad.mit.edu	36	3	40549351	40549351	+	Silent	SNP	T	C	C			TCGA-16-0848-01	TCGA-16-0848-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:40549351T>C	uc003ckm.2	+	c.1086T>C	c.(1084-1086)TCT>TCC	p.S362S	ZNF621_uc003ckn.2_Silent_p.S362S|ZNF621_uc003cko.2_Silent_p.S327S	NM_001098414	NP_940886	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.75	22.220684	23.06368	12	4	TT		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	Silent	SNP	40549351	40549351	18640	3	T	C	C	54	54	ZNF621	C	4	4
ABHD5	51099	broad.mit.edu	36	3	43731461	43731461	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:43731461G>A	uc003cmx.1	+	c.680G>A	c.(679-681)CGT>CAT	p.R227H		NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	227					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			ovary(1)	1		Renal(3;0.0134)												0.382609	123.679097	125.066208	44	71	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)	Missense_Mutation	SNP	43731461	43731461	86	3	G	A	A	40	40	ABHD5	A	1	1
FYCO1	79443	broad.mit.edu	36	3	45989680	45989680	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:45989680G>A	uc003cpb.2	-	c.443C>T	c.(442-444)TCG>TTG	p.S148L		NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	148	RUN.				transport	integral to membrane	protein binding|zinc ion binding			central_nervous_system(1)	1														0.396396	125.376657	126.419044	44	67	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	Missense_Mutation	SNP	45989680	45989680	6376	3	G	A	A	37	37	FYCO1	A	1	1
KLHL18	23276	broad.mit.edu	36	3	47336233	47336233	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47336233G>A	uc003crd.1	+	c.216G>A	c.(214-216)ATG>ATA	p.M72I	KLHL18_uc003crc.1_Missense_Mutation_p.M72I	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	72	BTB.										0		Acute lymphoblastic leukemia(5;0.164)												0.169082	65.693926	87.158047	35	172	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	Missense_Mutation	SNP	47336233	47336233	8685	3	G	A	A	47	47	KLHL18	A	2	2
WDR6	11180	broad.mit.edu	36	3	49024296	49024296	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49024296C>T	uc003cvj.1	+	c.325C>T	c.(325-327)CGC>TGC	p.R109C	WDR6_uc010hkn.1_Missense_Mutation_p.R83C	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	109	WD 1.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1														0.437838	228.860365	229.480004	81	104	CC		KEEP	---	---	---	---	capture		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	Missense_Mutation	SNP	49024296	49024296	17883	3	C	T	T	27	27	WDR6	T	1	1
RNF123	63891	broad.mit.edu	36	3	49714291	49714291	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49714291G>A	uc003cxh.1	+	c.1439G>A	c.(1438-1440)CGG>CAG	p.R480Q	RNF123_uc010hky.1_Missense_Mutation_p.R142Q|RNF123_uc003cxi.1_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	480						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)	6												OREG0015570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.571429	12.901246	12.932493	4	3	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	Missense_Mutation	SNP	49714291	49714291	13910	3	G	A	A	39	39	RNF123	A	1	1
NPRL2	10641	broad.mit.edu	36	3	50360828	50360828	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:50360828G>A	uc003daj.1	-	c.738C>T	c.(736-738)TGC>TGT	p.C246C	ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc003dah.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|NPRL2_uc003dai.1_Silent_p.C126C|CYB561D2_uc003dak.1_5'Flank|CYB561D2_uc003dal.1_5'Flank|CYB561D2_uc003dam.1_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	tumor suppressor candidate 4	246					negative regulation of kinase activity		protein binding|protein kinase activity			lung(1)	1										248				0.112245	8.449835	23.01257	11	87	GG		KEEP	---	---	---	---	capture			Silent	SNP	50360828	50360828	11002	3	G	A	A	42	42	NPRL2	A	2	2
TKT	7086	broad.mit.edu	36	3	53235920	53235920	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:53235920G>A	uc003dgo.1	-	c.1588C>T	c.(1588-1590)CGC>TGC	p.R530C	TKT_uc003dgp.1_Missense_Mutation_p.R162C|TKT_uc003dgq.1_Missense_Mutation_p.R530C	NM_001064	NP_001055	P29401	TKT_HUMAN	transketolase isoform 1	530					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			ovary(2)	2		Prostate(884;0.0959)			Thiamine(DB00152)	Colon(133;1506 2347 35238 42177)								0.105882	8.225622	21.330134	9	76	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Missense_Mutation	SNP	53235920	53235920	16463	3	G	A	A	39	39	TKT	A	1	1
PRICKLE2	166336	broad.mit.edu	36	3	64107584	64107584	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:64107584C>T	uc003dmf.1	-	c.1622G>A	c.(1621-1623)CGG>CAG	p.R541Q		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	541						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)	4		Lung NSC(201;0.136)												0.357143	126.379182	128.583925	45	81	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	Missense_Mutation	SNP	64107584	64107584	12930	3	C	T	T	23	23	PRICKLE2	T	1	1
ANK2	287	broad.mit.edu	36	4	114497951	114497951	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:114497951G>A	uc003ibe.2	+	c.8728G>A	c.(8728-8730)GTG>ATG	p.V2910M	ANK2_uc003ibd.2_Intron|ANK2_uc003ibf.2_Intron|ANK2_uc003ibg.2_Intron|ANK2_uc003ibh.2_Intron	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2877					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)												0.282946	181.48626	192.393638	73	185	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	Missense_Mutation	SNP	114497951	114497951	624	4	G	A	A	40	40	ANK2	A	1	1
SYNPO2	171024	broad.mit.edu	36	4	120172406	120172406	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:120172406C>T	uc010inb.1	+	c.3028C>T	c.(3028-3030)CCA>TCA	p.P1010S	SYNPO2_uc010ina.1_Missense_Mutation_p.P1010S|SYNPO2_uc003icm.2_Missense_Mutation_p.P1010S|SYNPO2_uc010inc.1_Missense_Mutation_p.P938S	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform a	1010						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2														0.287879	46.596556	49.26079	19	47	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120172406	120172406	15978	4	C	T	T	26	26	SYNPO2	T	2	2
SETD7	80854	broad.mit.edu	36	4	140687567	140687567	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:140687567C>T	uc003ihw.1	-	c.127G>A	c.(127-129)GGA>AGA	p.G43R	SETD7_uc003ihx.2_Missense_Mutation_p.G43R	NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN	SET domain-containing protein 7	43	MORN 1.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.156)													0.303922	86.292822	89.788594	31	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140687567	140687567	14625	4	C	T	T	23	23	SETD7	T	1	1
FBXW7	55294	broad.mit.edu	36	4	153466816	153466816	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:153466816C>T	uc003ims.1	-	c.1436G>A	c.(1435-1437)CGA>CAA	p.R479Q	FBXW7_uc003imq.1_Missense_Mutation_p.R399Q|FBXW7_uc003imr.1_Missense_Mutation_p.R361Q|FBXW7_uc003imt.1_Missense_Mutation_p.R479Q	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	479	WD 3.				interspecies interaction between organisms|negative regulation of DNA endoreduplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R479Q(29)|p.R479L(5)		haematopoietic_and_lymphoid_tissue(123)|large_intestine(99)|stomach(16)|endometrium(13)|ovary(9)|biliary_tract(8)|lung(4)|central_nervous_system(3)|kidney(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|skin(1)|NS(1)|bone(1)	289	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)							p.R479Q(KLE-Tumor)|p.R479Q(SNU81-Tumor)|p.R479Q(CL11-Tumor)|p.R479Q(HEC251-Tumor)|p.R479Q(SNU1197-Tumor)|p.R479Q(HS944.T-Tumor)|p.R479Q(SW1463-Tumor)	266				0.447368	97.040987	97.223575	34	42	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153466816	153466816	6006	4	C	T	T	31	31	FBXW7	T	1	1
CLRN2	645104	broad.mit.edu	36	4	17126223	17126223	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:17126223G>A	uc003gpg.1	+	c.236G>A	c.(235-237)CGC>CAC	p.R79H		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	clarin 2	79						integral to membrane					0														0.548387	47.073439	47.13673	17	14	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17126223	17126223	3696	4	G	A	A	38	38	CLRN2	A	1	1
C4orf44	345222	broad.mit.edu	36	4	3224762	3224762	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:3224762C>T	uc003ggs.1	+	c.351C>T	c.(349-351)TCC>TCT	p.S117S	C4orf44_uc003ggt.1_Silent_p.S117S	NM_001042690	NP_001036155	Q6ZTZ1	CD044_HUMAN	hypothetical protein LOC345222 isoform a	117											0														0.272059	93.161576	99.504006	37	99	CC		KEEP	---	---	---	---	capture			Silent	SNP	3224762	3224762	2367	4	C	T	T	23	23	C4orf44	T	1	1
N4BP2	55728	broad.mit.edu	36	4	39798563	39798563	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:39798563G>A	uc003guy.2	+	c.2437G>A	c.(2437-2439)GTA>ATA	p.V813I	N4BP2_uc010ifq.1_Missense_Mutation_p.V733I|N4BP2_uc010ifr.1_Missense_Mutation_p.V733I	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	813						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8										693				0.423729	71.566747	71.865659	25	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39798563	39798563	10505	4	G	A	A	40	40	N4BP2	A	1	1
DCAF4L1	285429	broad.mit.edu	36	4	41679631	41679631	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:41679631G>A	uc003gwk.2	+	c.1065G>A	c.(1063-1065)CCG>CCA	p.P355P		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	355											0														0.322222	73.247255	75.771267	29	61	GG		KEEP	---	---	---	---	capture			Silent	SNP	41679631	41679631	4442	4	G	A	A	40	40	DCAF4L1	A	1	1
ZNF721	170960	broad.mit.edu	36	4	427720	427720	+	Missense_Mutation	SNP	T	C	C			TCGA-16-0848-01	TCGA-16-0848-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:427720T>C	uc003gaf.2	-	c.632A>G	c.(631-633)AAC>AGC	p.N211S	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gag.1_Missense_Mutation_p.N179S|ZNF721_uc010ibe.1_Missense_Mutation_p.N167S	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	179						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1														0.216216	61.944648	70.187521	24	87	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	427720	427720	18719	4	T	C	C	60	60	ZNF721	C	4	4
CORIN	10699	broad.mit.edu	36	4	47323251	47323251	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:47323251G>A	uc003gxm.1	-	c.2243C>T	c.(2242-2244)CCG>CTG	p.P748L		NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	748	Extracellular (Potential).|SRCR.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)	1														0.216049	82.554928	94.592966	35	127	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47323251	47323251	3890	4	G	A	A	39	39	CORIN	A	1	1
SRP72	6731	broad.mit.edu	36	4	57030598	57030598	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:57030598C>T	uc003hbv.1	+	c.132C>T	c.(130-132)GAC>GAT	p.D44D	SRP72_uc010ihe.1_Silent_p.D44D	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	44	TPR 1.				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)													0.354167	90.521974	92.321544	34	62	CC		KEEP	---	---	---	---	capture			Silent	SNP	57030598	57030598	15671	4	C	T	T	19	19	SRP72	T	1	1
PPP2R2C	5522	broad.mit.edu	36	4	6381901	6381901	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:6381901G>A	uc003gja.1	-	c.1041C>T	c.(1039-1041)AAC>AAT	p.N347N	PPP2R2C_uc003gjb.1_Silent_p.N330N|PPP2R2C_uc003gjc.1_Silent_p.N347N	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	347	WD 6.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3														0.425	47.363455	47.560476	17	23	GG		KEEP	---	---	---	---	capture			Silent	SNP	6381901	6381901	12822	4	G	A	A	40	40	PPP2R2C	A	1	1
TCF7	6932	broad.mit.edu	36	5	133479601	133479601	+	Missense_Mutation	SNP	A	C	C			TCGA-16-0848-01	TCGA-16-0848-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:133479601A>C	uc003kyt.1	+	c.419A>C	c.(418-420)CAC>CCC	p.H140P	CDKN2AIPNL_uc003kys.1_Intron|TCF7_uc003kyu.1_Missense_Mutation_p.H25P|TCF7_uc003kyv.1_Missense_Mutation_p.H25P|TCF7_uc003kyw.1_Missense_Mutation_p.H25P|TCF7_uc003kyx.1_5'UTR|TCF7_uc003kyy.1_Missense_Mutation_p.H25P|TCF7_uc003kyz.1_Missense_Mutation_p.H25P|TCF7_uc003kza.1_Missense_Mutation_p.H25P	NM_003202	NP_998813	P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific,	140					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	promoter binding|protein binding|RNA polymerase II transcription factor activity				0		Breast(839;0.058)												0.333333	9.700233	10.277824	7	14	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Missense_Mutation	SNP	133479601	133479601	16222	5	A	C	C	6	6	TCF7	C	4	4
PCDHA1	56147	broad.mit.edu	36	5	140146359	140146359	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140146359G>A	uc003lhb.1	+	c.300G>A	c.(298-300)GCG>GCA	p.A100A	PCDHA1_uc003lha.1_Silent_p.A100A|PCDHA1_uc003lgz.1_Silent_p.A100A	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	100	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding				0														0.264901	100.644136	108.120512	40	111	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140146359	140146359	11939	5	G	A	A	39	39	PCDHA1	A	1	1
PCDHA12	56137	broad.mit.edu	36	5	140236596	140236596	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140236596C>T	uc003lic.1	+	c.1355C>T	c.(1354-1356)GCG>GTG	p.A452V	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_uc003lhq.1_Intron|PCDHA8_uc003lhs.1_Intron|PCDHA9_uc003lhu.1_Intron|PCDHA10_uc003lhx.1_Intron|PCDHA10_uc003lhw.1_Intron|PCDHA11_uc003lia.1_Intron|PCDHA12_uc003lib.1_Missense_Mutation_p.A452V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	452	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0						Pancreas(113;759 1672 13322 24104 50104)								0.392473	200.764352	202.63592	73	113	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140236596	140236596	11942	5	C	T	T	27	27	PCDHA12	T	1	1
PCDHB5	26167	broad.mit.edu	36	5	140497163	140497163	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140497163G>A	uc003liq.1	+	c.1963G>A	c.(1963-1965)GCC>ACC	p.A655T		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	655	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)	2														0.458333	124.319183	124.459433	44	52	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140497163	140497163	11965	5	G	A	A	38	38	PCDHB5	A	1	1
PCDHGB4	8641	broad.mit.edu	36	5	140749550	140749550	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140749550C>T	uc003lkc.1	+	c.1915C>T	c.(1915-1917)CGC>TGC	p.R639C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGA8_uc003lkd.1_5'Flank|PCDHGB4_uc010jfy.1_Missense_Mutation_p.R639C|PCDHGA8_uc003lkb.2_5'Flank	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	639	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.454545	67.561998	67.661591	25	30	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140749550	140749550	11985	5	C	T	T	27	27	PCDHGB4	T	1	1
PCDHGB6	56100	broad.mit.edu	36	5	140768688	140768688	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140768688C>T	uc003lkj.1	+	c.735C>T	c.(733-735)GAC>GAT	p.D245D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.D245D	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	245	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.4375	59.702456	59.858302	21	27	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140768688	140768688	11987	5	C	T	T	19	19	PCDHGB6	T	1	1
SLC6A7	6534	broad.mit.edu	36	5	149564362	149564362	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:149564362G>A	uc003lrr.1	+	c.1407G>A	c.(1405-1407)ACG>ACA	p.T469T		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	469	Helical; Name=10; (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)			L-Proline(DB00172)									0.32967	74.233752	76.566767	30	61	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Silent	SNP	149564362	149564362	15186	5	G	A	A	40	40	SLC6A7	A	1	1
GALNT10	55568	broad.mit.edu	36	5	153769332	153769332	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:153769332C>T	uc003lvh.1	+	c.1203C>T	c.(1201-1203)TAC>TAT	p.Y401Y	GALNT10_uc010jic.1_Non-coding_Transcript|GALNT10_uc010jid.1_Silent_p.Y242Y|GALNT10_uc003lvj.1_Silent_p.Y72Y	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	401	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)												0.316092	135.614671	140.82241	55	119	CC		KEEP	---	---	---	---	capture	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		Silent	SNP	153769332	153769332	6472	5	C	T	T	19	19	GALNT10	T	1	1
LPCAT1	79888	broad.mit.edu	36	5	1547868	1547868	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1547868G>A	uc003jcm.1	-	c.440C>T	c.(439-441)ACG>ATG	p.T147M		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	acyltransferase like 2	147	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2														0.430233	106.662381	107.027017	37	49	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	Missense_Mutation	SNP	1547868	1547868	9283	5	G	A	A	40	40	LPCAT1	A	1	1
MYO10	4651	broad.mit.edu	36	5	16719848	16719848	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:16719848G>A	uc003jft.2	-	c.6130C>T	c.(6130-6132)CGC>TGC	p.R2044C	MYO10_uc010itx.1_Missense_Mutation_p.R1666C	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	2044	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3												OREG0016531	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.466667	18.522889	18.537393	7	8	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16719848	16719848	10457	5	G	A	A	38	38	MYO10	A	1	1
SFXN1	94081	broad.mit.edu	36	5	174851835	174851835	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:174851835C>T	uc003mda.1	+	c.123C>T	c.(121-123)AAC>AAT	p.N41N	SFXN1_uc003mdb.1_De_novo_Start_InFrame	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	41					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			ovary(1)	1	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)												0.313725	43.28691	44.858835	16	35	CC		KEEP	---	---	---	---	capture	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Silent	SNP	174851835	174851835	14685	5	C	T	T	19	19	SFXN1	T	1	1
PRELID1	27166	broad.mit.edu	36	5	176666174	176666174	+	Silent	SNP	G	T	T			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176666174G>T	uc003mfx.1	+	c.657G>T	c.(655-657)GTG>GTT	p.V219V	RAB24_uc003mfu.1_5'Flank|RAB24_uc003mfv.1_5'Flank|RAB24_uc003mfw.1_5'Flank|PRELID1_uc003mfy.1_Silent_p.V217V|MXD3_uc010jkk.1_3'UTR	NM_013237	NP_037369	Q9Y255	PRLD1_HUMAN	PRELI domain containing 1	219					immune response|multicellular organismal development	mitochondrion|nucleus					0	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)												0.294118	7.339686	8.005541	5	12	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Silent	SNP	176666174	176666174	12914	5	G	T	T	48	48	PRELID1	T	3	3
DDX41	51428	broad.mit.edu	36	5	176874613	176874613	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176874613C>T	uc003mho.1	-	c.708G>A	c.(706-708)ACG>ACA	p.T236T	DDX41_uc003mhm.1_Silent_p.T16T|DDX41_uc003mhn.1_Silent_p.T105T|DDX41_uc003mhp.1_Silent_p.T105T|DDX41_uc003mhq.1_Silent_p.T16T	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	236	Helicase ATP-binding.				apoptosis|multicellular organismal development|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)												0.4	86.985951	87.68448	32	48	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		Silent	SNP	176874613	176874613	4532	5	C	T	T	19	19	DDX41	T	1	1
BTNL8	79908	broad.mit.edu	36	5	180268247	180268247	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:180268247C>T	uc003mmp.1	+	c.105C>T	c.(103-105)GAC>GAT	p.D35D	BTNL8_uc010jln.1_5'Flank|BTNL8_uc010jll.1_Silent_p.D35D|BTNL8_uc010jlm.1_Intron|BTNL8_uc003mmq.1_Silent_p.D35D	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 long form	35	Extracellular (Potential).|Ig-like V-type 1.					integral to membrane					0	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)												0.392857	57.532548	58.096678	22	34	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Silent	SNP	180268247	180268247	1601	5	C	T	T	19	19	BTNL8	T	1	1
RXFP3	51289	broad.mit.edu	36	5	33973405	33973405	+	Missense_Mutation	SNP	A	G	G			TCGA-16-0848-01	TCGA-16-0848-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:33973405A>G	uc003jic.1	+	c.803A>G	c.(802-804)CAC>CGC	p.H268R		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	268	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity				0														0.363636	12.398085	12.577601	4	7	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33973405	33973405	14241	5	A	G	G	6	6	RXFP3	G	4	4
IRX1	79192	broad.mit.edu	36	5	3652723	3652723	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:3652723G>A	uc003jde.1	+	c.661G>A	c.(661-663)GAG>AAG	p.E221K		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	221					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)|pancreas(1)	2														0.474576	81.694278	81.727446	28	31	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3652723	3652723	8147	5	G	A	A	37	37	IRX1	A	1	1
SV2C	22987	broad.mit.edu	36	5	75463689	75463689	+	Nonsense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:75463689C>T	uc003kei.1	+	c.358C>T	c.(358-360)CGA>TGA	p.R120*		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	120	Cytoplasmic (Potential).				neurotransmitter transport|transmembrane transport	cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)												0.353659	83.050318	84.598744	29	53	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	Nonsense_Mutation	SNP	75463689	75463689	15939	5	C	T	T	23	23	SV2C	T	5	1
TTC37	9652	broad.mit.edu	36	5	94902256	94902256	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:94902256C>T	uc003klb.1	-	c.437G>A	c.(436-438)CGG>CAG	p.R146Q	TTC37_uc010jbf.1_Missense_Mutation_p.R98Q	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	146							binding			ovary(3)|pancreas(1)	4														0.118421	20.648304	42.387309	18	134	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94902256	94902256	17260	5	C	T	T	23	23	TTC37	T	1	1
FOXO3	2309	broad.mit.edu	36	6	109091752	109091752	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:109091752G>A	uc003psk.2	+	c.1023G>A	c.(1021-1023)GCG>GCA	p.A341A	FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Silent_p.A341A|FOXO3_uc010kdj.1_Silent_p.A121A	NM_201559	NP_963853	O43524	FOXO3_HUMAN	forkhead box O3A	341					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(4)|lung(2)	6		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)								42				0.294118	49.200733	51.764807	20	48	GG		KEEP	---	---	---	---	capture		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	Silent	SNP	109091752	109091752	6270	6	G	A	A	38	38	FOXO3	A	1	1
EPB41L2	2037	broad.mit.edu	36	6	131232654	131232654	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:131232654C>T	uc003qch.1	-	c.2349G>A	c.(2347-2349)CCG>CCA	p.P783P	EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qce.1_Silent_p.P161P|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc010kfk.1_Intron|EPB41L2_uc003qci.1_Silent_p.P713P|EPB41L2_uc003qcj.1_Silent_p.P180P|EPB41L2_uc010kfl.1_Silent_p.P713P	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	783					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)													0.095057	12.325414	55.577962	25	238	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	Silent	SNP	131232654	131232654	5346	6	C	T	T	23	23	EPB41L2	T	1	1
FNDC1	84624	broad.mit.edu	36	6	159562668	159562668	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:159562668C>T	uc010kjv.1	+	c.718C>T	c.(718-720)CGG>TGG	p.R240W	FNDC1_uc010kjw.1_Missense_Mutation_p.R188W	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	240	Fibronectin type-III 2.					extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)												0.405797	82.157787	82.670492	28	41	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	Missense_Mutation	SNP	159562668	159562668	6210	6	C	T	T	23	23	FNDC1	T	1	1
GPLD1	2822	broad.mit.edu	36	6	24545376	24545376	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:24545376C>T	uc003ned.1	-	c.2141G>A	c.(2140-2142)CGC>CAC	p.R714H		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	714	FG-GAP 6.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3														0.342282	131.303103	134.566601	51	98	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24545376	24545376	6888	6	C	T	T	27	27	GPLD1	T	1	1
HIST1H1D	3007	broad.mit.edu	36	6	26343089	26343089	+	Missense_Mutation	SNP	T	C	C			TCGA-16-0848-01	TCGA-16-0848-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:26343089T>C	uc003nhd.1	-	c.52A>G	c.(52-54)ACA>GCA	p.T18A		NM_005320	NP_005311	P16402	H13_HUMAN	histone cluster 1, H1d	18					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)												0.409396	191.098792	192.17788	61	88	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26343089	26343089	7410	6	T	C	C	60	60	HIST1H1D	C	4	4
PRSS16	10279	broad.mit.edu	36	6	27327704	27327704	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:27327704C>T	uc003nja.1	+	c.914C>T	c.(913-915)CCG>CTG	p.P305L	PRSS16_uc003njb.1_Intron|PRSS16_uc010jqq.1_Intron|PRSS16_uc010jqr.1_Intron|PRSS16_uc003njc.1_Intron|PRSS16_uc003njd.1_Non-coding_Transcript	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	protease, serine, 16	305					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			ovary(2)|central_nervous_system(2)	4						NSCLC(178;1118 2105 17078 23587 44429)								0.535714	44.262293	44.298752	15	13	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27327704	27327704	13066	6	C	T	T	23	23	PRSS16	T	1	1
FLOT1	10211	broad.mit.edu	36	6	30817585	30817585	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30817585G>A	uc003nrm.1	-	c.82C>T	c.(82-84)CGT>TGT	p.R28C		NM_005803	NP_005794	O75955	FLOT1_HUMAN	flotillin 1	28						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction					0														0.340909	38.024762	39.002526	15	29	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30817585	30817585	6178	6	G	A	A	38	38	FLOT1	A	1	1
TAP2	6891	broad.mit.edu	36	6	32905220	32905220	+	Nonsense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32905220G>A	uc003ocd.1	-	c.1867C>T	c.(1867-1869)CGA>TGA	p.R623*	TAP2_uc003ocb.1_Nonsense_Mutation_p.R623*|TAP2_uc003occ.1_Nonsense_Mutation_p.R623*	NM_000544	NP_000535	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	623	ABC transporter.|Cytoplasmic (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0														0.166667	8.267474	11.419824	5	25	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	32905220	32905220	16072	6	G	A	A	40	40	TAP2	A	5	1
PACSIN1	29993	broad.mit.edu	36	6	34606286	34606286	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:34606286G>A	uc003ojo.1	+	c.981G>A	c.(979-981)GCG>GCA	p.A327A	PACSIN1_uc003ojp.1_Silent_p.A327A	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	327					endocytosis		protein kinase activity				0														0.225	19.154553	21.934032	9	31	GG		KEEP	---	---	---	---	capture			Silent	SNP	34606286	34606286	11790	6	G	A	A	38	38	PACSIN1	A	1	1
UBR2	23304	broad.mit.edu	36	6	42721304	42721304	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:42721304G>A	uc003osg.1	+	c.2407G>A	c.(2407-2409)GAT>AAT	p.D803N	UBR2_uc003osh.1_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	803						nucleus|plasma membrane	zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)													0.388235	97.254715	98.185301	33	52	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Missense_Mutation	SNP	42721304	42721304	17460	6	G	A	A	33	33	UBR2	A	2	2
ABCC10	89845	broad.mit.edu	36	6	43518722	43518722	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43518722G>A	uc003ouy.1	+	c.2263G>A	c.(2263-2265)GCT>ACT	p.A755T	ABCC10_uc003ouz.1_Missense_Mutation_p.A727T|ABCC10_uc010jyo.1_5'UTR	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	755	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(5)|central_nervous_system(1)	6	all_lung(25;0.00536)													0.12037	14.309472	29.567013	13	95	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Missense_Mutation	SNP	43518722	43518722	51	6	G	A	A	38	38	ABCC10	A	1	1
ZNF292	23036	broad.mit.edu	36	6	88023466	88023466	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:88023466C>T	uc003plm.2	+	c.3400C>T	c.(3400-3402)CGC>TGC	p.R1134C		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)												0.257143	42.121865	45.861854	18	52	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0199)	Missense_Mutation	SNP	88023466	88023466	18418	6	C	T	T	27	27	ZNF292	T	1	1
KLHL32	114792	broad.mit.edu	36	6	97668675	97668675	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:97668675G>A	uc010kcm.1	+	c.923G>A	c.(922-924)CGG>CAG	p.R308Q	KLHL32_uc003poy.2_Missense_Mutation_p.R308Q|KLHL32_uc003poz.2_Intron|KLHL32_uc003ppa.2_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	308	Kelch 1.									ovary(3)	3		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)												0.477941	197.374802	197.431645	65	71	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0558)	Missense_Mutation	SNP	97668675	97668675	8699	6	G	A	A	39	39	KLHL32	A	1	1
C7orf52	375607	broad.mit.edu	36	7	100604567	100604567	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100604567G>A	uc003uxy.1	-	c.242C>T	c.(241-243)CCT>CTT	p.P81L	C7orf52_uc003uxz.1_Missense_Mutation_p.P81L|C7orf52_uc003uya.1_Missense_Mutation_p.P81L|C7orf52_uc003uyb.1_Missense_Mutation_p.P81L	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	hypothetical protein LOC375607	81	N-acetyltransferase.						N-acetyltransferase activity			ovary(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)													0.261905	23.006396	25.163407	11	31	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100604567	100604567	2508	7	G	A	A	35	35	C7orf52	A	2	2
CBLL1	79872	broad.mit.edu	36	7	107186311	107186311	+	Missense_Mutation	SNP	C	A	A			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107186311C>A	uc003veq.1	+	c.928C>A	c.(928-930)CCT>ACT	p.P310T		NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Cas-Br-M (murine) ecotropic retroviral	310	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4														0.28125	161.325867	170.963368	63	161	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107186311	107186311	2822	7	C	A	A	18	18	CBLL1	A	3	3
DOCK4	9732	broad.mit.edu	36	7	111155624	111155624	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:111155624C>T	uc003vfy.1	-	c.5978G>A	c.(5977-5979)CGG>CAG	p.R1993Q	DOCK4_uc003vfw.1_Missense_Mutation_p.R1360Q|DOCK4_uc003vfx.1_Missense_Mutation_p.R1948Q|DOCK4_uc003vfv.1_Missense_Mutation_p.R261Q	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1948	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(1;0.0441)												0.328767	64.174207	66.072403	24	49	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111155624	111155624	4873	7	C	T	T	23	23	DOCK4	T	1	1
ZC3HC1	51530	broad.mit.edu	36	7	129456046	129456046	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129456046G>A	uc003vpi.1	-	c.553C>T	c.(553-555)CGT>TGT	p.R185C	ZC3HC1_uc003vph.1_Missense_Mutation_p.R72C|ZC3HC1_uc010lma.1_Missense_Mutation_p.R72C	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	zinc finger, C3HC type 1	185	F-box-like.				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding				0	Melanoma(18;0.0435)					Melanoma(115;540 1606 16325 28853 48167)								0.149254	15.904373	23.812795	10	57	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129456046	129456046	18165	7	G	A	A	37	37	ZC3HC1	A	1	1
PIP	5304	broad.mit.edu	36	7	142546364	142546364	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142546364C>T	uc003wcf.1	+	c.276C>T	c.(274-276)GAC>GAT	p.D92D		NM_002652	NP_002643	P12273	PIP_HUMAN	prolactin-induced protein	92						extracellular region	actin binding			ovary(1)	1	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)												0.203488	73.837108	87.87114	35	137	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)	Silent	SNP	142546364	142546364	12359	7	C	T	T	19	19	PIP	T	1	1
SLC4A2	6522	broad.mit.edu	36	7	150394958	150394958	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150394958G>A	uc003wit.2	+	c.911G>A	c.(910-912)CGG>CAG	p.R304Q	SLC4A2_uc003wiu.2_Missense_Mutation_p.R290Q	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	304	Cytoplasmic (Potential).|Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0										2				0.413534	151.309226	152.173065	55	78	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	150394958	150394958	15151	7	G	A	A	39	39	SLC4A2	A	1	1
WDR86	349136	broad.mit.edu	36	7	150728201	150728201	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150728201C>T	uc003wkb.2	-	c.223G>A	c.(223-225)GCC>ACC	p.A75T	WDR86_uc003wka.2_Missense_Mutation_p.A33T|WDR86_uc003wkc.2_5'UTR	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	WD repeat domain 86	75	WD 2.										0														0.285714	29.886727	31.615153	12	30	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	150728201	150728201	17907	7	C	T	T	27	27	WDR86	T	1	1
UBE3C	9690	broad.mit.edu	36	7	156672438	156672438	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:156672438G>A	uc010lqs.1	+	c.1293G>A	c.(1291-1293)ACG>ACA	p.T431T	UBE3C_uc003wnf.2_Silent_p.T388T|UBE3C_uc003wng.2_Silent_p.T431T	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	431					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|ovary(1)	2		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)												0.238095	21.727184	24.360678	10	32	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	Silent	SNP	156672438	156672438	17439	7	G	A	A	38	38	UBE3C	A	1	1
MACC1	346389	broad.mit.edu	36	7	20164939	20164939	+	Missense_Mutation	SNP	T	C	C			TCGA-16-0848-01	TCGA-16-0848-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:20164939T>C	uc003sus.2	-	c.1570A>G	c.(1570-1572)AAG>GAG	p.K524E	MACC1_uc010kug.1_Missense_Mutation_p.K524E	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	524					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)	2														0.148026	82.207181	118.370432	45	259	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20164939	20164939	9520	7	T	C	C	62	62	MACC1	C	4	4
SNX8	29886	broad.mit.edu	36	7	2270500	2270500	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:2270500G>A	uc003slw.1	-	c.741C>T	c.(739-741)ATC>ATT	p.I247I		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	247					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)												0.253333	45.892818	50.033508	19	56	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)	Silent	SNP	2270500	2270500	15408	7	G	A	A	37	37	SNX8	A	1	1
SDK1	221935	broad.mit.edu	36	7	4023366	4023366	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:4023366C>T	uc003smx.1	+	c.2458C>T	c.(2458-2460)CGG>TGG	p.R820W	SDK1_uc010kso.1_Missense_Mutation_p.R96W	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 isoform 1	820	Fibronectin type-III 2.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)												0.21519	33.837227	39.751134	17	62	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	Missense_Mutation	SNP	4023366	4023366	14454	7	C	T	T	27	27	SDK1	T	1	1
ZMIZ2	83637	broad.mit.edu	36	7	44765455	44765455	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44765455C>T	uc003tlr.1	+	c.864C>T	c.(862-864)ACC>ACT	p.T288T	ZMIZ2_uc003tlq.1_Silent_p.T256T|ZMIZ2_uc003tls.1_Silent_p.T288T|ZMIZ2_uc003tlt.1_5'Flank|ZMIZ2_uc010kyj.1_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	288	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						NSCLC(20;604 852 1948 16908 50522)								0.210383	164.587024	192.995435	77	289	CC		KEEP	---	---	---	---	capture			Silent	SNP	44765455	44765455	18288	7	C	T	T	23	23	ZMIZ2	T	1	1
ADCY1	107	broad.mit.edu	36	7	45684033	45684033	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:45684033G>A	uc003tne.2	+	c.1646G>A	c.(1645-1647)CGC>CAC	p.R549H		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	brain adenylate cyclase 1	549	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|central_nervous_system(1)	4					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)									0.167832	79.749784	109.636609	48	238	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45684033	45684033	293	7	G	A	A	38	38	ADCY1	A	1	1
TNRC18	84629	broad.mit.edu	36	7	5394408	5394408	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:5394408C>T	uc003soi.2	-	c.1573G>A	c.(1573-1575)GTG>ATG	p.V525M	TNRC18_uc010ksx.1_Missense_Mutation_p.V451M	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	525							DNA binding				0		Ovarian(82;0.142)												0.227273	9.057809	10.567374	5	17	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	Missense_Mutation	SNP	5394408	5394408	16880	7	C	T	T	19	19	TNRC18	T	1	1
CLDN4	1364	broad.mit.edu	36	7	72884069	72884069	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72884069G>A	uc003tzi.2	+	c.602G>A	c.(601-603)CGC>CAC	p.R201H	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	claudin 4	201	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity				0		Lung NSC(55;0.159)												0.169355	70.614731	96.197912	42	206	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72884069	72884069	3624	7	G	A	A	38	38	CLDN4	A	1	1
POM121C	100101267	broad.mit.edu	36	7	74886090	74886090	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:74886090G>A	uc003udk.2	-	c.2889C>T	c.(2887-2889)TCC>TCT	p.S963S		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	POM121 membrane glycoprotein (rat)-like	1205	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0														0.142857	12.829249	20.578089	9	54	GG		KEEP	---	---	---	---	capture			Silent	SNP	74886090	74886090	12668	7	G	A	A	47	47	POM121C	A	2	2
HEATR2	54919	broad.mit.edu	36	7	776666	776666	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:776666G>A	uc010krz.1	+	c.1816G>A	c.(1816-1818)GTG>ATG	p.V606M	HEATR2_uc003siz.2_Missense_Mutation_p.V474M|HEATR2_uc003sjb.2_De_novo_Start_InFrame|HEATR2_uc003sjc.2_Missense_Mutation_p.V31M|HEATR2_uc003sja.2_Missense_Mutation_p.V64M	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	606	HEAT 7.						protein binding				0		Ovarian(82;0.0112)												0.129412	12.686521	24.036728	11	74	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	Missense_Mutation	SNP	776666	776666	7311	7	G	A	A	40	40	HEATR2	A	1	1
PCLO	27445	broad.mit.edu	36	7	82421244	82421244	+	Missense_Mutation	SNP	T	C	C			TCGA-16-0848-01	TCGA-16-0848-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:82421244T>C	uc003uhx.2	-	c.6961A>G	c.(6961-6963)AGA>GGA	p.R2321G	PCLO_uc003uhv.2_Missense_Mutation_p.R2321G|PCLO_uc010lec.1_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2252					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														0.237037	239.991974	265.589686	96	309	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82421244	82421244	12003	7	T	C	C	55	55	PCLO	C	4	4
ZNF804B	219578	broad.mit.edu	36	7	88800776	88800776	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:88800776C>T	uc003uju.1	+	c.544C>T	c.(544-546)CGG>TGG	p.R182W		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	182						intracellular	zinc ion binding			ovary(5)|pancreas(2)	7	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)													0.24031	69.56092	77.501727	31	98	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0513)		Missense_Mutation	SNP	88800776	88800776	18769	7	C	T	T	27	27	ZNF804B	T	1	1
BLK	640	broad.mit.edu	36	8	11451739	11451739	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:11451739C>T	uc003wty.1	+	c.936C>T	c.(934-936)ACC>ACT	p.T312T	BLK_uc003wtz.1_Silent_p.T241T	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	312	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion|protein phosphorylation		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|ovary(1)	2									p.T312T(HT115-Tumor)	676				0.475	56.330166	56.351113	19	21	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	Silent	SNP	11451739	11451739	1469	8	C	T	T	23	23	BLK	T	1	1
KCNQ3	3786	broad.mit.edu	36	8	133222612	133222612	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:133222612G>A	uc003ytj.1	-	c.1411C>T	c.(1411-1413)CGT>TGT	p.R471C	KCNQ3_uc010mdt.1_Missense_Mutation_p.R471C	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	471					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)	4	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)													0.4	167.013645	168.369704	62	93	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000311)		Missense_Mutation	SNP	133222612	133222612	8389	8	G	A	A	38	38	KCNQ3	A	1	1
EGR3	1960	broad.mit.edu	36	8	22604249	22604249	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22604249G>A	uc003xcm.1	-	c.846C>T	c.(844-846)TGC>TGT	p.C282C		NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	282	C2H2-type 1.				circadian rhythm|muscle organ development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)												0.156627	18.353927	27.672691	13	70	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	Silent	SNP	22604249	22604249	5162	8	G	A	A	38	38	EGR3	A	1	1
FZD3	7976	broad.mit.edu	36	8	28476347	28476347	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:28476347G>A	uc003xgx.1	+	c.1901G>A	c.(1900-1902)CGA>CAA	p.R634Q	FZD3_uc010lvb.1_Missense_Mutation_p.R634Q	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3	634	Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)												0.402439	94.863554	95.544275	33	49	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	Missense_Mutation	SNP	28476347	28476347	6382	8	G	A	A	37	37	FZD3	A	1	1
EXTL3	2137	broad.mit.edu	36	8	28629571	28629571	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:28629571C>T	uc003xgz.1	+	c.76C>T	c.(76-78)CGC>TGC	p.R26C		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Reg receptor	26	Cytoplasmic (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding				0		Ovarian(32;0.069)												0.363636	90.688289	92.122706	32	56	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	Missense_Mutation	SNP	28629571	28629571	5521	8	C	T	T	23	23	EXTL3	T	1	1
GPR124	25960	broad.mit.edu	36	8	37807520	37807520	+	Nonsense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:37807520C>T	uc003xkj.1	+	c.832C>T	c.(832-834)CGA>TGA	p.R278*	GPR124_uc010lvy.1_Nonsense_Mutation_p.R285*	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	285	Extracellular (Potential).|Ig-like.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5														0.363636	11.501289	11.679419	4	7	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		Nonsense_Mutation	SNP	37807520	37807520	6912	8	C	T	T	23	23	GPR124	T	5	1
RAB11FIP1	80223	broad.mit.edu	36	8	37875830	37875830	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:37875830C>T	uc003xkm.1	-	c.288G>A	c.(286-288)GCG>GCA	p.A96A	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Silent_p.A96A	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	96	C2.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)	1		Lung NSC(58;0.118)|all_lung(54;0.195)												0.428571	16.24752	16.309801	6	8	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		Silent	SNP	37875830	37875830	13352	8	C	T	T	27	27	RAB11FIP1	T	1	1
PRKDC	5591	broad.mit.edu	36	8	48864052	48864052	+	Missense_Mutation	SNP	C	A	A			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:48864052C>A	uc003xqi.1	-	c.10870G>T	c.(10870-10872)GGC>TGC	p.G3624C	PRKDC_uc003xqj.1_Missense_Mutation_p.G3624C	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3624					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				Esophageal Squamous(79;1091 1253 12329 31680 40677)				1566				0.351648	88.670726	90.438083	32	59	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48864052	48864052	12964	8	C	A	A	24	24	PRKDC	A	3	3
MCM4	4173	broad.mit.edu	36	8	49050045	49050045	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:49050045G>A	uc003xqk.1	+	c.2335G>A	c.(2335-2337)GGC>AGC	p.G779S	MCM4_uc003xql.1_Missense_Mutation_p.G779S	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	779					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)								376				0.365517	157.235976	159.542455	53	92	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49050045	49050045	9778	8	G	A	A	47	47	MCM4	A	2	2
CNGB3	54714	broad.mit.edu	36	8	87748353	87748353	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:87748353C>T	uc003ydx.1	-	c.768G>A	c.(766-768)GCG>GCA	p.A256A	CNGB3_uc010maj.1_Silent_p.A118A	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	256	Helical; Name=H2; (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3														0.340909	83.42902	85.394634	30	58	CC		KEEP	---	---	---	---	capture			Silent	SNP	87748353	87748353	3739	8	C	T	T	23	23	CNGB3	T	1	1
RAD54B	25788	broad.mit.edu	36	8	95461752	95461752	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:95461752G>A	uc003ygk.1	-	c.2044C>T	c.(2044-2046)CGT>TGT	p.R682C	RAD54B_uc010may.1_Missense_Mutation_p.R489C	NM_012415	NP_036547	Q9Y620	RA54B_HUMAN	RAD54 homolog B	682	Helicase C-terminal.				mitotic recombination|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA helicase activity|RNA helicase activity			kidney(2)|lung(1)	3	Breast(36;4.5e-05)													0.310811	57.897739	60.256946	23	51	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;0.00217)		Missense_Mutation	SNP	95461752	95461752	13452	8	G	A	A	38	38	RAD54B	A	1	1
ASTN2	23245	broad.mit.edu	36	9	118453675	118453675	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:118453675G>A	uc004bjs.1	-	c.3025C>T	c.(3025-3027)CGT>TGT	p.R1009C	ASTN2_uc004bjp.1_Missense_Mutation_p.R102C|ASTN2_uc004bjq.1_Missense_Mutation_p.R61C|ASTN2_uc004bjr.1_Missense_Mutation_p.R1005C|ASTN2_uc004bjt.1_Missense_Mutation_p.R958C|ASTN2_uc004bjv.1_Missense_Mutation_p.R61C	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	1009	Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.411111	108.060585	108.680542	37	53	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118453675	118453675	1084	9	G	A	A	39	39	ASTN2	A	1	1
C8G	733	broad.mit.edu	36	9	138960392	138960392	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138960392C>T	uc004cka.2	+	c.381C>T	c.(379-381)GTC>GTT	p.V127V	FBXW5_uc004cjx.1_5'Flank|FBXW5_uc004cjy.1_5'Flank|FBXW5_uc004cjz.1_5'Flank	NM_000606	NP_000597	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	127					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)												0.458333	63.645098	63.717507	22	26	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)	Silent	SNP	138960392	138960392	2527	9	C	T	T	31	31	C8G	T	1	1
ABCA2	20	broad.mit.edu	36	9	139032599	139032599	+	Silent	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139032599G>A	uc004ckm.1	-	c.1935C>T	c.(1933-1935)GAC>GAT	p.D645D	ABCA2_uc010nby.1_Silent_p.D545D|ABCA2_uc010nbz.1_Silent_p.D615D|ABCA2_uc004ckl.1_Silent_p.D545D|ABCA2_uc004ckn.1_Non-coding_Transcript|ABCA2_uc004cko.1_Silent_p.D391D	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	614					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|lysosomal membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)												0.407407	116.468943	117.280197	44	64	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	Silent	SNP	139032599	139032599	33	9	G	A	A	40	40	ABCA2	A	1	1
EXD3	54932	broad.mit.edu	36	9	139321375	139321375	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139321375G>A	uc004cmp.2	-	c.2479C>T	c.(2479-2481)CGG>TGG	p.R827W	EXD3_uc010ncf.1_Missense_Mutation_p.R465W	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	hypothetical protein LOC54932	827					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0														0.16	6.785459	9.536611	4	21	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139321375	139321375	5492	9	G	A	A	38	38	EXD3	A	1	1
KCNV2	169522	broad.mit.edu	36	9	2709094	2709094	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:2709094C>T	uc003zho.1	+	c.1355C>T	c.(1354-1356)GCG>GTG	p.A452V		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	452					response to stimulus|visual perception	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)	1														0.329114	69.850867	71.882007	26	53	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0257)	Missense_Mutation	SNP	2709094	2709094	8400	9	C	T	T	27	27	KCNV2	T	1	1
APBA1	320	broad.mit.edu	36	9	71237367	71237367	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:71237367G>A	uc004ahh.1	-	c.2347C>T	c.(2347-2349)CGT>TGT	p.R783C		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	783	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1														0.45	108.695537	108.868749	36	44	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71237367	71237367	766	9	G	A	A	39	39	APBA1	A	1	1
WWC3	55841	broad.mit.edu	36	X	10045420	10045420	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:10045420C>T	uc004csx.2	+	c.1321C>T	c.(1321-1323)CGG>TGG	p.R441W	WWC3_uc010nds.1_Missense_Mutation_p.R105W|WWC3_uc010ndt.1_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	441	Ser-rich.									ovary(4)	4														0.115942	8.257438	18.271852	8	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10045420	10045420	17987	23	C	T	T	27	27	WWC3	T	1	1
TCEAL6	158931	broad.mit.edu	36	X	101282676	101282676	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:101282676C>T	uc004eiq.1	-	c.284G>A	c.(283-285)CGG>CAG	p.R95Q	TCEAL6_uc010nny.1_Missense_Mutation_p.R95Q	NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1														0.267123	95.454972	102.610772	39	107	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101282676	101282676	16201	23	C	T	T	23	23	TCEAL6	T	1	1
TCEAL4	79921	broad.mit.edu	36	X	102728325	102728325	+	Missense_Mutation	SNP	A	C	C			TCGA-16-0848-01	TCGA-16-0848-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:102728325A>C	uc004ekl.1	+	c.66A>C	c.(64-66)GAA>GAC	p.E22D	TCEAL4_uc004ekn.1_Missense_Mutation_p.E22D|TCEAL4_uc004ekm.1_Missense_Mutation_p.E22D|TCEAL4_uc004eko.1_Missense_Mutation_p.E22D	NM_024863	NP_079139	Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	22	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0														0.571429	8.981303	9.010078	4	3	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102728325	102728325	16199	23	A	C	C	2	2	TCEAL4	C	4	4
FRMPD4	9758	broad.mit.edu	36	X	12646740	12646740	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:12646740C>T	uc004cuz.1	+	c.3874C>T	c.(3874-3876)CCT>TCT	p.P1292S		NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1292					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13														0.097902	6.804706	29.89824	14	129	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12646740	12646740	6309	23	C	T	T	26	26	FRMPD4	T	2	2
F9	2158	broad.mit.edu	36	X	138450939	138450939	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:138450939G>A	uc004fas.1	+	c.316G>A	c.(316-318)GGC>AGC	p.G106S	F9_uc004fat.1_Intron	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	106	EGF-like 1; calcium-binding (Potential).		G -> D (in HEMB).|G -> S (in HEMB; mild; Durham).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)									0.781818	142.653206	146.680759	43	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138450939	138450939	5548	23	G	A	A	39	39	F9	A	1	1
L1CAM	3897	broad.mit.edu	36	X	152788786	152788786	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152788786C>T	uc004fjb.1	-	c.910G>A	c.(910-912)GAG>AAG	p.E304K	L1CAM_uc004fjc.1_Missense_Mutation_p.E304K|L1CAM_uc004fjd.1_Missense_Mutation_p.E118K|L1CAM_uc010nuo.1_Missense_Mutation_p.E299K|L1CAM_uc004fje.1_Missense_Mutation_p.E299K	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	304	Extracellular (Potential).|Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.840659	478.445411	498.550947	153	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152788786	152788786	8911	23	C	T	T	31	31	L1CAM	T	1	1
DNASE1L1	1774	broad.mit.edu	36	X	153286608	153286608	+	Missense_Mutation	SNP	C	G	G			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153286608C>G	uc004fks.1	-	c.146G>C	c.(145-147)CGC>CCC	p.R49P	DNASE1L1_uc004fkt.1_Missense_Mutation_p.R49P|DNASE1L1_uc004fku.1_Missense_Mutation_p.R49P|DNASE1L1_uc004fkv.1_Missense_Mutation_p.R49P|DNASE1L1_uc004fkw.1_Missense_Mutation_p.R49P	NM_006730	NP_006721	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1 precursor	49					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.4	8.022859	8.156588	6	9	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153286608	153286608	4844	23	C	G	G	27	27	DNASE1L1	G	3	3
SCML1	6322	broad.mit.edu	36	X	17678274	17678274	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:17678274C>T	uc004cyb.1	+	c.643C>T	c.(643-645)CGG>TGG	p.R215W	SCML1_uc004cyc.1_Missense_Mutation_p.R188W|SCML1_uc004cyd.1_Missense_Mutation_p.R94W|SCML1_uc004cye.1_Missense_Mutation_p.R94W	NM_001037540	NP_001032625	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 isoform a	215					anatomical structure morphogenesis|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)	3	Hepatocellular(33;0.183)													0.689655	117.786594	119.636329	40	18	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17678274	17678274	14391	23	C	T	T	31	31	SCML1	T	1	1
MAP3K15	389840	broad.mit.edu	36	X	19323228	19323228	+	Missense_Mutation	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:19323228C>T	uc004czk.1	-	c.511G>A	c.(511-513)GAG>AAG	p.E171K	MAP3K15_uc004czj.1_Missense_Mutation_p.E131K	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	696	Protein kinase.				protein phosphorylation		ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|skin(1)	6	Hepatocellular(33;0.183)													0.787879	247.194396	254.779303	78	21	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19323228	19323228	9632	23	C	T	T	31	31	MAP3K15	T	1	1
FTSJ1	24140	broad.mit.edu	36	X	48224818	48224818	+	Missense_Mutation	SNP	G	A	A			TCGA-16-0848-01	TCGA-16-0848-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48224818G>A	uc004djm.1	+	c.529G>A	c.(529-531)GTG>ATG	p.V177M	FTSJ1_uc004djl.1_Missense_Mutation_p.V177M|FTSJ1_uc004djn.1_Missense_Mutation_p.V177M|FTSJ1_uc004djo.1_Missense_Mutation_p.V177M|FTSJ1_uc004djp.1_Missense_Mutation_p.V177M	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	FtsJ homolog 1 isoform a	177					rRNA methylation		methyltransferase activity|nucleic acid binding				0														0.866667	121.047075	126.91998	39	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48224818	48224818	6338	23	G	A	A	40	40	FTSJ1	A	1	1
CCDC120	90060	broad.mit.edu	36	X	48812090	48812090	+	Missense_Mutation	SNP	A	G	G			TCGA-16-0848-01	TCGA-16-0848-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48812090A>G	uc010nik.1	+	c.1391A>G	c.(1390-1392)GAG>GGG	p.E464G	CCDC120_uc004dmf.1_Missense_Mutation_p.E464G|CCDC120_uc010nil.1_Missense_Mutation_p.E464G	NM_033626	NP_296375	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	464	Pro-rich.						protein binding			pancreas(1)	1														0.4	7.376481	7.469283	4	6	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48812090	48812090	2876	23	A	G	G	11	11	CCDC120	G	4	4
CACNA1F	778	broad.mit.edu	36	X	48956135	48956135	+	Missense_Mutation	SNP	A	C	C			TCGA-16-0848-01	TCGA-16-0848-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48956135A>C	uc004dnb.1	-	c.3911T>G	c.(3910-3912)GTC>GGC	p.V1304G	CACNA1F_uc010nip.1_Missense_Mutation_p.V1293G	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1304	Helical; Name=S4 of repeat IV; (Potential).|IV.				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)					279				0.4	7.21705	7.326128	4	6	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48956135	48956135	2659	23	A	C	C	10	10	CACNA1F	C	4	4
TBL1Y	90665	broad.mit.edu	36	Y	7014357	7014357	+	Silent	SNP	C	T	T			TCGA-16-0848-01	TCGA-16-0848-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrY:7014357C>T	uc004frb.1	+	c.1179C>T	c.(1177-1179)TGC>TGT	p.C393C	TBL1Y_uc004frc.1_Silent_p.C393C|TBL1Y_uc004frd.1_Silent_p.C393C	NM_033284	NP_599021	Q9BQ87	TBL1Y_HUMAN	transducin beta-like 1Y	393	WD 5.				transcription, DNA-dependent						0														0.370968	61.512323	62.417721	23	39	CC		KEEP	---	---	---	---	capture			Silent	SNP	7014357	7014357	16167	24	C	T	T	27	27	TBL1Y	T	1	1
FKBP15	23307	broad.mit.edu	36	9	114971971	114971972	+	In_Frame_Ins	INS	-	TTC	TTC			TCGA-16-0848-01	TCGA-16-0848-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:114971971_114971972insTTC	uc004bgs.2	-	c.2838_2839insGAA	c.(2836-2841)insGAA	p.946_947insE	FKBP15_uc004bgr.2_In_Frame_Ins_p.383_384insE	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	946_947	Potential.				endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3														0.50			3	3				---	---	---	---	capture_indel			In_Frame_Ins	INS	114971971	114971972	6143	9	-	TTC	TTC	64	64	FKBP15	TTC	5	5
