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
ARMC4	55130	broad.mit.edu	36	10	28269649	28269649	+	Missense_Mutation	SNP	G	T	T			TCGA-19-2625-01	TCGA-19-2625-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:28269649G>T	uc009xky.1	-	c.1835C>A	c.(1834-1836)GCA>GAA	p.A612E	ARMC4_uc001itz.1_Missense_Mutation_p.A612E	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	612							binding			ovary(4)	4														0.35	71.861156	73.45545	28	52	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28269649	28269649	971	10	G	T	T	46	46	ARMC4	T	3	3
PTEN	5728	broad.mit.edu	36	10	89675294	89675294	+	Missense_Mutation	SNP	T	A	A			TCGA-19-2625-01	TCGA-19-2625-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89675294T>A	uc001kfb.1	+	c.209T>A	c.(208-210)CTT>CAT	p.L70H		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	70	Phosphatase tensin-type.		L -> P (in CD).		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.L70fs*7(2)|p.Y27_N212>Y(2)|p.L70P(1)|p.L70F(1)|p.R55_L70>S(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)			0.315789	18.3434	18.916716	6	13	TT		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	89675294	89675294	13192	10	T	A	A	55	55	PTEN	A	4	4
CD3E	916	broad.mit.edu	36	11	117689769	117689769	+	Nonsense_Mutation	SNP	C	T	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117689769C>T	uc001psq.2	+	c.490C>T	c.(490-492)CGA>TGA	p.R164*		NM_000733	NP_000724	P07766	CD3E_HUMAN	CD3E antigen, epsilon polypeptide precursor	164	Cytoplasmic (Potential).				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			ovary(2)	2	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)			Muromonab(DB00075)									0.2375	46.688747	51.722807	19	61	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Nonsense_Mutation	SNP	117689769	117689769	3139	11	C	T	T	19	19	CD3E	T	5	1
CDHR5	53841	broad.mit.edu	36	11	608758	608758	+	Missense_Mutation	SNP	T	C	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:608758T>C	uc001lqj.1	-	c.1801A>G	c.(1801-1803)ACA>GCA	p.T601A	IRF7_uc001lqh.1_5'Flank|IRF7_uc001lqi.1_5'Flank|CDHR5_uc001lqk.1_Intron|CDHR5_uc009ycc.1_Missense_Mutation_p.T435A|CDHR5_uc009ycd.1_Missense_Mutation_p.T595A|CDHR5_uc001lql.1_Missense_Mutation_p.T601A	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	601	4 X 31 AA approximate tandem repeats.|2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.311538	195.675591	204.025773	81	179	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	608758	608758	3251	11	T	C	C	59	59	CDHR5	C	4	4
EP400	57634	broad.mit.edu	36	12	131037222	131037222	+	Missense_Mutation	SNP	C	A	A			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131037222C>A	uc001ujn.1	+	c.2140C>A	c.(2140-2142)CCC>ACC	p.P714T	EP400_uc001ujl.1_Missense_Mutation_p.P713T|EP400_uc001ujm.1_Missense_Mutation_p.P714T|EP400_uc001ujj.1_Missense_Mutation_p.P677T|EP400_uc001ujk.2_Missense_Mutation_p.P750T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	750					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)												0.18	90.278293	114.246244	45	205	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	Missense_Mutation	SNP	131037222	131037222	5342	12	C	A	A	22	22	EP400	A	3	3
WNT10B	7480	broad.mit.edu	36	12	47648241	47648241	+	Silent	SNP	G	T	T			TCGA-19-2625-01	TCGA-19-2625-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47648241G>T	uc001rss.1	-	c.466C>A	c.(466-468)CGG>AGG	p.R156R	WNT10B_uc001rst.1_Silent_p.R156R	NM_003394	NP_003385	O00744	WN10B_HUMAN	wingless-type MMTV integration site family,	156					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			skin(2)	2														0.245614	34.427063	37.783524	14	43	GG		KEEP	---	---	---	---	capture			Silent	SNP	47648241	47648241	17957	12	G	T	T	37	37	WNT10B	T	3	3
SP7	121340	broad.mit.edu	36	12	52008647	52008647	+	Silent	SNP	T	C	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:52008647T>C	uc001sct.1	-	c.846A>G	c.(844-846)GGA>GGG	p.G282G	SP7_uc001scu.1_Silent_p.G264G|SP7_uc001scv.1_Silent_p.G282G	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	osterix	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.25	7.161702	8.402304	5	15	TT		KEEP	---	---	---	---	capture			Silent	SNP	52008647	52008647	15469	12	T	C	C	54	54	SP7	C	4	4
KIAA0317	9870	broad.mit.edu	36	14	74219751	74219751	+	Splice_Site_SNP	SNP	C	T	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74219751C>T	uc001xqb.1	-	c.481_splice	c.e5+1	p.G161_splice	KIAA0317_uc001xqc.1_Splice_Site_SNP_p.G161_splice	NM_001039479	NP_001034568			hypothetical protein LOC9870						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														0.473684	78.016927	78.05153	27	30	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00404)	Splice_Site_SNP	SNP	74219751	74219751	8474	14	C	T	T	18	18	KIAA0317	T	5	2
CDH5	1003	broad.mit.edu	36	16	64983579	64983579	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:64983579G>A	uc002eom.2	+	c.1009G>A	c.(1009-1011)GTC>ATC	p.V337I	CDH5_uc002eon.1_Missense_Mutation_p.V337I	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	337	Cadherin 3.|Extracellular (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)												0.28	184.786038	195.639509	70	180	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Missense_Mutation	SNP	64983579	64983579	3242	16	G	A	A	40	40	CDH5	A	1	1
KARS	3735	broad.mit.edu	36	16	74227380	74227380	+	Silent	SNP	C	T	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:74227380C>T	uc002fer.1	-	c.684G>A	c.(682-684)CCG>CCA	p.P228P	KARS_uc002feq.1_Silent_p.P200P|KARS_uc002fes.1_Silent_p.P44P|KARS_uc010cgz.1_Silent_p.P44P	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	200					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)									0.236111	41.639473	46.222755	17	55	CC		KEEP	---	---	---	---	capture			Silent	SNP	74227380	74227380	8284	16	C	T	T	19	19	KARS	T	1	1
MYH2	4620	broad.mit.edu	36	17	10373490	10373490	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10373490G>A	uc010coi.1	-	c.3151C>T	c.(3151-3153)CGC>TGC	p.R1051C	MYH2_uc002gmp.2_Missense_Mutation_p.R1051C|MYH2_uc010coj.1_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1051	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.326241	132.502428	136.278447	46	95	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10373490	10373490	10430	17	G	A	A	37	37	MYH2	A	1	1
MYO15A	51168	broad.mit.edu	36	17	17965979	17965979	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17965979C>T	uc010cpt.1	+	c.3140C>T	c.(3139-3141)CCC>CTC	p.P1047L	MYO15A_uc010cpu.1_Missense_Mutation_p.P1047L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1047	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	6	all_neural(463;0.228)													0.334821	223.164902	228.568674	75	149	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17965979	17965979	10458	17	C	T	T	22	22	MYO15A	T	2	2
OR1G1	8390	broad.mit.edu	36	17	2977088	2977088	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:2977088C>T	uc002fvc.1	-	c.508G>A	c.(508-510)GCA>ACA	p.A170T		NM_003555	NP_003546	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						Colon(127;1481 1654 8243 19426 50557)								0.252174	144.952657	157.77678	58	172	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2977088	2977088	11363	17	C	T	T	27	27	OR1G1	T	1	1
MRM1	79922	broad.mit.edu	36	17	32032798	32032798	+	Missense_Mutation	SNP	T	C	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:32032798T>C	uc002hne.1	+	c.446T>C	c.(445-447)GTC>GCC	p.V149A	MRM1_uc002hnf.1_Intron	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog	149					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)												0.185185	9.258444	11.768866	5	22	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	Missense_Mutation	SNP	32032798	32032798	10164	17	T	C	C	58	58	MRM1	C	4	4
MRPL38	64978	broad.mit.edu	36	17	71412317	71412317	+	Missense_Mutation	SNP	T	C	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71412317T>C	uc002jpy.1	-	c.44A>G	c.(43-45)GAG>GGG	p.E15G	FBF1_uc002jqa.1_Non-coding_Transcript|MRPL38_uc002jpz.1_Non-coding_Transcript	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	49						actin cytoskeleton|mitochondrion|ribosome				pancreas(1)	1														0.4	6.782848	6.874091	4	6	TT		KEEP	---	---	---	---	capture	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		Missense_Mutation	SNP	71412317	71412317	10194	17	T	C	C	54	54	MRPL38	C	4	4
TP53	7157	broad.mit.edu	36	17	7518293	7518293	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7518293C>T	uc002gim.2	-	c.713G>A	c.(712-714)TGT>TAT	p.C238Y	TP53_uc002gig.1_Missense_Mutation_p.C238Y|TP53_uc002gih.1_Missense_Mutation_p.C238Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106Y|TP53_uc010cng.1_Missense_Mutation_p.C106Y|TP53_uc002gii.1_Missense_Mutation_p.C106Y|TP53_uc010cnh.1_Missense_Mutation_p.C238Y|TP53_uc010cni.1_Missense_Mutation_p.C238Y|TP53_uc002gij.2_Missense_Mutation_p.C238Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145Y|TP53_uc002gio.2_Missense_Mutation_p.C106Y	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	238	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(46)|p.C238F(28)|p.C238S(6)|p.0?(6)|p.C238fs*21(1)|p.M237_N239delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238del(1)|p.H233fs*6(1)|p.V225fs*23(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.M237fs*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)		111	p.C238S(LN18-Tumor)|p.C238Y(MC116-Tumor)|p.C238S(MOLM16-Tumor)|p.C238S(SNU626-Tumor)|p.C238fs(SW1417-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.28169	48.866658	51.910043	20	51	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7518293	7518293	16923	17	C	T	T	17	17	TP53	T	2	2
TP53	7157	broad.mit.edu	36	17	7518960	7518960	+	Missense_Mutation	SNP	T	C	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7518960T>C	uc002gim.2	-	c.614A>G	c.(613-615)TAT>TGT	p.Y205C	TP53_uc002gig.1_Missense_Mutation_p.Y205C|TP53_uc002gih.1_Missense_Mutation_p.Y205C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y73C|TP53_uc010cng.1_Missense_Mutation_p.Y73C|TP53_uc002gii.1_Missense_Mutation_p.Y73C|TP53_uc010cnh.1_Missense_Mutation_p.Y205C|TP53_uc010cni.1_Missense_Mutation_p.Y205C|TP53_uc002gij.2_Missense_Mutation_p.Y205C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112C|TP53_uc002gio.2_Missense_Mutation_p.Y73C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	205	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.Y205C(52)|p.Y205S(11)|p.Y205F(8)|p.0?(6)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)		111	p.Y205S(OCIAML2-Tumor)|p.Y205C(SJRH30-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.303371	83.150442	86.18858	27	62	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7518960	7518960	16923	17	T	C	C	49	49	TP53	C	4	4
LDLR	3949	broad.mit.edu	36	19	11085247	11085247	+	Silent	SNP	T	C	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11085247T>C	uc002mqk.2	+	c.1395T>C	c.(1393-1395)TAT>TAC	p.Y465Y		NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	465	LDL-receptor class B 2.|Extracellular (Potential).				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)	2		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)			Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GBM(18;201 575 7820 21545)				1109				0.272727	65.865282	69.960326	24	64	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Silent	SNP	11085247	11085247	9028	19	T	C	C	51	51	LDLR	C	4	4
PRPF31	26121	broad.mit.edu	36	19	59313781	59313781	+	Missense_Mutation	SNP	T	C	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59313781T>C	uc002qdh.1	+	c.194T>C	c.(193-195)ATG>ACG	p.M65T	TFPT_uc002qdg.1_5'Flank	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	65					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U2-type spliceosomal complex|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)													0.314815	228.493561	236.723364	85	185	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59313781	59313781	13009	19	T	C	C	51	51	PRPF31	C	4	4
MUC16	94025	broad.mit.edu	36	19	8929025	8929025	+	Missense_Mutation	SNP	T	C	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8929025T>C	uc002mkp.1	-	c.19421A>G	c.(19420-19422)CAC>CGC	p.H6474R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6476	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.146739	51.319704	73.372705	27	157	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8929025	8929025	10367	19	T	C	C	59	59	MUC16	C	4	4
SLAMF6	114836	broad.mit.edu	36	1	158732603	158732603	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158732603C>T	uc001fwe.1	-	c.254G>A	c.(253-255)CGA>CAA	p.R85Q	SLAMF6_uc001fwd.1_Missense_Mutation_p.R85Q|SLAMF6_uc009wtm.1_Missense_Mutation_p.R36Q	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	activating NK receptor precursor	85	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)	1	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)													0.465116	434.051551	434.371319	140	161	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.0923)		Missense_Mutation	SNP	158732603	158732603	14863	1	C	T	T	31	31	SLAMF6	T	1	1
NPHS2	7827	broad.mit.edu	36	1	177787001	177787001	+	Missense_Mutation	SNP	A	G	G			TCGA-19-2625-01	TCGA-19-2625-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:177787001A>G	uc001gmq.2	-	c.1082T>C	c.(1081-1083)CTC>CCC	p.L361P	C1orf125_uc009wxg.1_Intron|C1orf125_uc001gmo.1_Intron|C1orf125_uc001gmp.1_Intron|C1orf125_uc009wxh.1_Intron|NPHS2_uc009wxi.1_Missense_Mutation_p.L293P|C1orf125_uc001gmr.1_Non-coding_Transcript	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	podocin	361	Cytoplasmic (Potential).				excretion	integral to plasma membrane	protein binding				0														0.235294	84.083773	92.857577	32	104	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	177787001	177787001	10987	1	A	G	G	11	11	NPHS2	G	4	4
ALDH4A1	8659	broad.mit.edu	36	1	19075520	19075520	+	Missense_Mutation	SNP	T	C	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:19075520T>C	uc001bbb.1	-	c.1214A>G	c.(1213-1215)GAG>GGG	p.E405G	ALDH4A1_uc001bbc.1_Missense_Mutation_p.E405G	NM_170726	NP_733844	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4A1 precursor	405					oxidation-reduction process|proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity				0		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)			NADH(DB00157)									0.409091	10.380023	10.581955	9	13	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	19075520	19075520	504	1	T	C	C	54	54	ALDH4A1	C	4	4
CENPF	1063	broad.mit.edu	36	1	212882712	212882712	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:212882712G>A	uc001hkm.1	+	c.4408G>A	c.(4408-4410)GAG>AAG	p.E1470K		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1566	1-2.|2 X 96 AA approximate tandem repeats.		Missing.		cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12						Colon(80;575 1284 11000 14801 43496)								0.449612	175.831629	176.117284	58	71	GG		KEEP	---	---	---	---	capture		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	Missense_Mutation	SNP	212882712	212882712	3364	1	G	A	A	41	41	CENPF	A	2	2
EPRS	2058	broad.mit.edu	36	1	218221350	218221350	+	Missense_Mutation	SNP	T	C	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:218221350T>C	uc001hly.1	-	c.3446A>G	c.(3445-3447)AAT>AGT	p.N1149S		NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	1149	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)	1					L-Glutamic Acid(DB00142)|L-Proline(DB00172)									0.456522	142.083755	142.24084	42	50	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.0735)	Missense_Mutation	SNP	218221350	218221350	5384	1	T	C	C	52	52	EPRS	C	4	4
SPOCD1	90853	broad.mit.edu	36	1	32052654	32052654	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:32052654C>T	uc001bts.1	-	c.868G>A	c.(868-870)GCT>ACT	p.A290T	SPOCD1_uc001btu.2_Missense_Mutation_p.A290T|SPOCD1_uc001btv.2_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	290										ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)												0.166667	20.177252	27.749081	12	60	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.18)	Missense_Mutation	SNP	32052654	32052654	15591	1	C	T	T	27	27	SPOCD1	T	1	1
PTPRF	5792	broad.mit.edu	36	1	43829499	43829499	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43829499C>T	uc001cjr.1	+	c.1219C>T	c.(1219-1221)CGC>TGC	p.R407C	PTPRF_uc001cjs.1_Missense_Mutation_p.R407C|PTPRF_uc001cju.1_De_novo_Start_OutOfFrame|PTPRF_uc009vwt.1_De_novo_Start_OutOfFrame|PTPRF_uc001cjv.1_De_novo_Start_OutOfFrame	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	407	Extracellular (Potential).|Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)												0.210526	18.482349	21.425674	8	30	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43829499	43829499	13258	1	C	T	T	19	19	PTPRF	T	1	1
C20orf72	92667	broad.mit.edu	36	20	17898509	17898509	+	Missense_Mutation	SNP	A	G	G			TCGA-19-2625-01	TCGA-19-2625-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:17898509A>G	uc002wqh.1	+	c.7A>G	c.(7-9)ATG>GTG	p.M3V	SNX5_uc002wqc.1_5'Flank|SNX5_uc002wqd.1_5'Flank|SNX5_uc002wqe.1_5'Flank|SNX5_uc010gcn.1_5'Flank|C20orf72_uc010gco.1_Non-coding_Transcript|C20orf72_uc010gcp.1_5'Flank	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN	hypothetical protein LOC92667	3											0														0.274336	93.798235	98.967712	31	82	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17898509	17898509	2198	20	A	G	G	12	12	C20orf72	G	4	4
WFDC8	90199	broad.mit.edu	36	20	43617815	43617815	+	Silent	SNP	G	A	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43617815G>A	uc002xow.1	-	c.384C>T	c.(382-384)TGC>TGT	p.C128C	WFDC8_uc002xox.1_Silent_p.C128C	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8 precursor	128	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)												0.27451	106.181416	113.190795	42	111	GG		KEEP	---	---	---	---	capture			Silent	SNP	43617815	43617815	17930	20	G	A	A	38	38	WFDC8	A	1	1
MC3R	4159	broad.mit.edu	36	20	54257686	54257686	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:54257686C>T	uc002xxb.2	+	c.491C>T	c.(490-492)TCC>TTC	p.S164F		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	164	Helical; Name=3; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)	2														0.319728	126.444906	130.705542	47	100	CC		KEEP	---	---	---	---	capture	Colorectal(105;0.202)		Missense_Mutation	SNP	54257686	54257686	9754	20	C	T	T	30	30	MC3R	T	2	2
KCNQ2	3785	broad.mit.edu	36	20	61508510	61508510	+	Silent	SNP	C	G	G			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61508510C>G	uc002yey.1	-	c.2550G>C	c.(2548-2550)GGG>GGC	p.G850G	KCNQ2_uc002yfa.1_Silent_p.G832G|KCNQ2_uc002yez.1_Silent_p.G819G|KCNQ2_uc002yfb.1_Silent_p.G822G	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	850	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	all_cancers(38;1.24e-11)				Amitriptyline(DB00321)									0.470588	10.431543	10.452828	8	9	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Silent	SNP	61508510	61508510	8388	20	C	G	G	26	26	KCNQ2	G	3	3
KRTAP24-1	643803	broad.mit.edu	36	21	30576560	30576560	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:30576560C>T	uc002ynv.1	-	c.562G>A	c.(562-564)GTC>ATC	p.V188I		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	188						keratin filament	structural molecule activity				0														0.25	110.478355	120.714769	45	135	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30576560	30576560	8863	21	C	T	T	19	19	KRTAP24-1	T	1	1
COL6A2	1292	broad.mit.edu	36	21	46370566	46370566	+	Silent	SNP	C	T	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46370566C>T	uc002zia.1	+	c.2409C>T	c.(2407-2409)GAC>GAT	p.D803D	COL6A2_uc002zhy.1_Silent_p.D803D|COL6A2_uc002zhz.1_Silent_p.D803D|COL6A2_uc002zib.1_Silent_p.D209D|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	803	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)													0.337255	238.05212	244.035123	86	169	CC		KEEP	---	---	---	---	capture		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	Silent	SNP	46370566	46370566	3838	21	C	T	T	19	19	COL6A2	T	1	1
PISD	23761	broad.mit.edu	36	22	30347352	30347352	+	Missense_Mutation	SNP	C	T	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:30347352C>T	uc003alm.2	-	c.665G>A	c.(664-666)CGT>CAT	p.R222H	PISD_uc003alk.1_Missense_Mutation_p.R188H|PISD_uc003all.1_Missense_Mutation_p.R187H|PISD_uc003aln.2_Missense_Mutation_p.R222H	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	222					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			ovary(1)|central_nervous_system(1)	2					Phosphatidylserine(DB00144)							OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.393443	140.874392	142.086632	48	74	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30347352	30347352	12370	22	C	T	T	19	19	PISD	T	1	1
MAPK8IP2	23542	broad.mit.edu	36	22	49395549	49395549	+	Missense_Mutation	SNP	G	C	C			TCGA-19-2625-01	TCGA-19-2625-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:49395549G>C	uc003bmx.1	+	c.2347G>C	c.(2347-2349)GCC>CCC	p.A783P	MAPK8IP2_uc003bmy.1_Missense_Mutation_p.A756P	NM_012324	NP_036456	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting	783	PID.				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			large_intestine(2)|central_nervous_system(1)	3		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)								297				0.5	9.99752	9.99752	4	4	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Missense_Mutation	SNP	49395549	49395549	9668	22	G	C	C	38	38	MAPK8IP2	C	3	3
YSK4	80122	broad.mit.edu	36	2	135462124	135462124	+	Missense_Mutation	SNP	T	G	G			TCGA-19-2625-01	TCGA-19-2625-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:135462124T>G	uc002tue.1	-	c.788A>C	c.(787-789)GAG>GCG	p.E263A	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.E150A|YSK4_uc002tuh.2_5'UTR|YSK4_uc002tui.2_Missense_Mutation_p.E280A	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	263					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5										411				0.194915	50.040693	60.307264	23	95	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.112)	Missense_Mutation	SNP	135462124	135462124	18078	2	T	G	G	54	54	YSK4	G	4	4
ARHGAP15	55843	broad.mit.edu	36	2	143629560	143629560	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:143629560G>A	uc002tvm.2	+	c.31G>A	c.(31-33)GTG>ATG	p.V11M		NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	11					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)	1														0.190476	25.676333	31.308908	12	51	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.151)	Missense_Mutation	SNP	143629560	143629560	877	2	G	A	A	40	40	ARHGAP15	A	1	1
SCN7A	6332	broad.mit.edu	36	2	166970704	166970704	+	Missense_Mutation	SNP	C	A	A			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:166970704C>A	uc002udu.1	-	c.4681G>T	c.(4681-4683)GCT>TCT	p.A1561S		NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1561					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1														0.238372	101.481834	112.239681	41	131	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	166970704	166970704	14405	2	C	A	A	25	25	SCN7A	A	3	3
UGT1A1	54658	broad.mit.edu	36	2	234333756	234333756	+	Silent	SNP	G	A	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234333756G>A	uc002vvb.1	+	c.84G>A	c.(82-84)GGG>GGA	p.G28G	UGT1A8_uc002vup.1_Intron|UGT1A10_uc002vuq.2_Intron|UGT1A10_uc002vur.1_Intron|UGT1A9_uc002vus.1_Intron|UGT1A7_uc002vut.1_Intron|UGT1A6_uc002vuu.1_Intron|UGT1A6_uc002vuv.2_Intron|UGT1A5_uc002vuw.1_Intron|UGT1A4_uc002vux.1_Intron|UGT1A3_uc002vuy.1_Intron|UGT1A10_uc002vva.1_Intron	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	28					bilirubin conjugation|digestion|drug metabolic process|estrogen metabolic process|flavone metabolic process|heme catabolic process|negative regulation of steroid metabolic process|retinoic acid metabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)	1		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)			Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)									0.240741	32.047575	35.359933	13	41	GG		KEEP	---	---	---	---	capture		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Silent	SNP	234333756	234333756	17502	2	G	A	A	41	41	UGT1A1	A	2	2
PPP1R7	5510	broad.mit.edu	36	2	241754470	241754470	+	Missense_Mutation	SNP	C	G	G			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:241754470C>G	uc002wat.1	+	c.760C>G	c.(760-762)CTG>GTG	p.L254V	PPP1R7_uc010fzm.1_Missense_Mutation_p.L238V|PPP1R7_uc002war.1_Missense_Mutation_p.L248V|PPP1R7_uc002was.1_Missense_Mutation_p.L254V|PPP1R7_uc002wau.1_Missense_Mutation_p.L211V|PPP1R7_uc002wav.1_Missense_Mutation_p.L180V	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	254	LRR 9.					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			ovary(2)	2		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)				NSCLC(62;446 1299 5417 11238 27640)								0.340909	38.604278	39.591927	15	29	CC		KEEP	---	---	---	---	capture		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	Missense_Mutation	SNP	241754470	241754470	12812	2	C	G	G	24	24	PPP1R7	G	3	3
THNSL2	55258	broad.mit.edu	36	2	88253864	88253864	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:88253864G>A	uc002ssz.2	+	c.80G>A	c.(79-81)GGG>GAG	p.G27E	THNSL2_uc002ssv.2_Intron|THNSL2_uc002ssw.2_Missense_Mutation_p.G27E|THNSL2_uc002ssx.2_Intron|THNSL2_uc002sta.2_Intron|THNSL2_uc002ssy.2_Missense_Mutation_p.G27E|THNSL2_uc010fhe.1_5'Flank	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	27					threonine biosynthetic process		threonine synthase activity			ovary(1)	1														0.190789	65.808177	79.374894	29	123	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88253864	88253864	16391	2	G	A	A	43	43	THNSL2	A	2	2
CAND2	23066	broad.mit.edu	36	3	12831870	12831870	+	Missense_Mutation	SNP	T	A	A			TCGA-19-2625-01	TCGA-19-2625-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:12831870T>A	uc003bxj.1	+	c.958T>A	c.(958-960)TGG>AGG	p.W320R	CAND2_uc003bxk.1_5'Flank	NM_012298	NP_036430	O75155	CAND2_HUMAN	TBP-interacting protein	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|transcription activator activity			pancreas(1)	1						GBM(43;676 868 1633 6395 37496)								0.333333	57.310519	58.710496	19	38	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12831870	12831870	2733	3	T	A	A	51	51	CAND2	A	4	4
LRIG1	26018	broad.mit.edu	36	3	66538350	66538350	+	Silent	SNP	C	T	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:66538350C>T	uc003dmx.1	-	c.1122G>A	c.(1120-1122)ACG>ACA	p.T374T	LRIG1_uc010hnz.1_Silent_p.T114T|LRIG1_uc010hoa.1_Silent_p.T374T|LRIG1_uc003dmw.1_Silent_p.T40T	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	374	Extracellular (Potential).|LRR 13.					integral to membrane				ovary(2)|skin(1)	3		Lung NSC(201;0.0101)												0.361111	37.069986	37.679085	13	23	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.00047)	Silent	SNP	66538350	66538350	9317	3	C	T	T	31	31	LRIG1	T	1	1
GPR15	2838	broad.mit.edu	36	3	99734575	99734575	+	Missense_Mutation	SNP	C	G	G			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99734575C>G	uc003dsw.1	+	c.1008C>G	c.(1006-1008)CAC>CAG	p.H336Q		NM_005290	NP_005281	P49685	GPR15_HUMAN	G protein-coupled receptor 15	336	Cytoplasmic (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)												0.270833	120.047965	126.879399	39	105	CC		KEEP	---	---	---	---	capture		Lung(72;0.246)	Missense_Mutation	SNP	99734575	99734575	6930	3	C	G	G	18	18	GPR15	G	3	3
ODZ3	55714	broad.mit.edu	36	4	183947305	183947305	+	Silent	SNP	C	T	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:183947305C>T	uc003ivd.1	+	c.5370C>T	c.(5368-5370)GAC>GAT	p.D1790D		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1790	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)												0.32	20.491642	21.211101	8	17	CC		KEEP	---	---	---	---	capture		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	Silent	SNP	183947305	183947305	11241	4	C	T	T	19	19	ODZ3	T	1	1
SLC12A7	10723	broad.mit.edu	36	5	1138433	1138433	+	Silent	SNP	C	T	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1138433C>T	uc003jbu.1	-	c.831G>A	c.(829-831)GCG>GCA	p.A277A		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	277	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			large_intestine(1)	1	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)				Potassium Chloride(DB00761)									0.318182	35.436342	36.728784	14	30	CC		KEEP	---	---	---	---	capture	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Silent	SNP	1138433	1138433	14883	5	C	T	T	27	27	SLC12A7	T	1	1
MED7	9443	broad.mit.edu	36	5	156498761	156498761	+	Missense_Mutation	SNP	A	G	G			TCGA-19-2625-01	TCGA-19-2625-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:156498761A>G	uc010jik.1	-	c.260T>C	c.(259-261)ATT>ACT	p.I87T	MED7_uc003lwm.2_Missense_Mutation_p.I87T|MED7_uc010jil.1_Missense_Mutation_p.I87T	NM_001100816	NP_004261	O43513	MED7_HUMAN	mediator complex subunit 7	87					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|RNA polymerase II transcription mediator activity|transcription coactivator activity				0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)												0.310078	125.955331	130.098612	40	89	AA		KEEP	---	---	---	---	capture	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Missense_Mutation	SNP	156498761	156498761	9841	5	A	G	G	4	4	MED7	G	4	4
RUFY1	80230	broad.mit.edu	36	5	178969080	178969080	+	Missense_Mutation	SNP	G	C	C			TCGA-19-2625-01	TCGA-19-2625-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:178969080G>C	uc003mka.1	+	c.2081G>C	c.(2080-2082)AGC>ACC	p.S694T	RUFY1_uc003mkb.1_Missense_Mutation_p.S586T|RUFY1_uc003mkc.1_Missense_Mutation_p.S586T|RUFY1_uc003mkd.1_Missense_Mutation_p.S296T	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	RUN and FYVE domain-containing 1 isoform a	694	FYVE-type.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			ovary(4)|breast(1)	5	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)												0.333333	7.036876	7.422585	5	10	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	178969080	178969080	14218	5	G	C	C	34	34	RUFY1	C	3	3
HCN1	348980	broad.mit.edu	36	5	45731715	45731715	+	Missense_Mutation	SNP	C	A	A			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:45731715C>A	uc003jok.1	-	c.238G>T	c.(238-240)GGC>TGC	p.G80C		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	80	Cytoplasmic (Potential).|Gly-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.380952	18.785101	19.049285	8	13	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45731715	45731715	7278	5	C	A	A	22	22	HCN1	A	3	3
EZR	7430	broad.mit.edu	36	6	159130391	159130391	+	Missense_Mutation	SNP	T	C	C			TCGA-19-2625-01	TCGA-19-2625-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:159130391T>C	uc003qrt.2	-	c.13A>G	c.(13-15)ATC>GTC	p.I5V	EZR_uc003qru.2_Missense_Mutation_p.I5V	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin	5	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)												0.25	67.554833	73.008135	24	72	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	Missense_Mutation	SNP	159130391	159130391	5529	6	T	C	C	50	50	EZR	C	4	4
MLLT4	4301	broad.mit.edu	36	6	168086686	168086686	+	Missense_Mutation	SNP	A	G	G			TCGA-19-2625-01	TCGA-19-2625-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:168086686A>G	uc003qwd.1	+	c.3104A>G	c.(3103-3105)TAT>TGT	p.Y1035C	MLLT4_uc003qwb.1_Missense_Mutation_p.Y1020C|MLLT4_uc003qwc.1_Missense_Mutation_p.Y1036C|MLLT4_uc003qwg.1_Missense_Mutation_p.Y345C	NM_001040001	NP_001035090	E9PHS7	E9PHS7_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1036					signal transduction					ovary(2)|kidney(1)|central_nervous_system(1)	4		Breast(66;1.07e-05)|Ovarian(120;0.024)								1250				0.317757	113.918615	117.074104	34	73	AA		KEEP	---	---	---	---	capture		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	Missense_Mutation	SNP	168086686	168086686	10019	6	A	G	G	16	16	MLLT4	G	4	4
HSP90AB1	3326	broad.mit.edu	36	6	44325806	44325806	+	Missense_Mutation	SNP	G	C	C			TCGA-19-2625-01	TCGA-19-2625-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:44325806G>C	uc003oxa.1	+	c.585G>C	c.(583-585)GAG>GAC	p.E195D	HSP90AB1_uc003oxb.1_Missense_Mutation_p.E195D|HSP90AB1_uc003oxc.1_5'UTR	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	195					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding				0	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)									186				0.3	232.52225	241.459514	75	175	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Missense_Mutation	SNP	44325806	44325806	7701	6	G	C	C	33	33	HSP90AB1	C	3	3
GSTA4	2941	broad.mit.edu	36	6	52958335	52958335	+	Missense_Mutation	SNP	G	A	A			TCGA-19-2625-01	TCGA-19-2625-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:52958335G>A	uc003pbc.1	-	c.145C>T	c.(145-147)CAC>TAC	p.H49Y	GSTA4_uc003pbd.1_5'UTR|GSTA4_uc003pbe.1_Intron|GSTA4_uc003pbf.1_Missense_Mutation_p.H49Y	NM_001512	NP_001503	O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	49	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity				0	Lung NSC(77;0.103)				Glutathione(DB00143)									0.283019	126.205054	132.930708	45	114	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52958335	52958335	7113	6	G	A	A	47	47	GSTA4	A	2	2
PHF3	23469	broad.mit.edu	36	6	64474037	64474037	+	Missense_Mutation	SNP	A	T	T			TCGA-19-2625-01	TCGA-19-2625-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:64474037A>T	uc003pep.1	+	c.3527A>T	c.(3526-3528)CAG>CTG	p.Q1176L	PHF3_uc010kah.1_Missense_Mutation_p.Q990L|PHF3_uc003pen.2_Missense_Mutation_p.Q1088L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1176					multicellular organismal development	nucleus	zinc ion binding			ovary(2)|lung(1)|skin(1)	4	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)					GBM(135;136 1820 29512 34071 46235)				350				0.31068	92.361351	95.64984	32	71	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		Missense_Mutation	SNP	64474037	64474037	12259	6	A	T	T	7	7	PHF3	T	4	4
SRRT	51593	broad.mit.edu	36	7	100316940	100316940	+	Missense_Mutation	SNP	G	C	C			TCGA-19-2625-01	TCGA-19-2625-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100316940G>C	uc003uwy.2	+	c.221G>C	c.(220-222)AGC>ACC	p.S74T	SRRT_uc010lhl.1_Missense_Mutation_p.S74T|SRRT_uc003uxa.2_Missense_Mutation_p.S74T|SRRT_uc003uwz.2_Missense_Mutation_p.S74T|SRRT_uc003uwx.2_5'UTR	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	74	Arg-rich.				cell proliferation|primary microRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2														0.2	6.938527	9.967308	7	28	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100316940	100316940	15687	7	G	C	C	34	34	SRRT	C	3	3
DOCK5	80005	broad.mit.edu	36	8	25288072	25288072	+	Silent	SNP	C	T	T			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:25288072C>T	uc003xeg.1	+	c.3801C>T	c.(3799-3801)CAC>CAT	p.H1267H	PPP2R2A_uc003xek.1_Silent_p.H56H|DOCK5_uc003xei.1_Silent_p.H837H|DOCK5_uc003xej.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.H981H	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1267	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)				Pancreas(145;34 1887 3271 10937 30165)								0.28839	213.641059	224.316914	77	190	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	Silent	SNP	25288072	25288072	4874	8	C	T	T	19	19	DOCK5	T	1	1
TBC1D2	55357	broad.mit.edu	36	9	100057330	100057330	+	Missense_Mutation	SNP	G	C	C			TCGA-19-2625-01	TCGA-19-2625-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:100057330G>C	uc004ayq.1	-	c.315C>G	c.(313-315)GAC>GAG	p.D105E	TBC1D2_uc004ayo.2_Missense_Mutation_p.D105E|TBC1D2_uc004ayr.1_5'UTR	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	105	PH.|Interaction with CADH1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)												0.147727	29.025362	39.502319	13	75	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	Missense_Mutation	SNP	100057330	100057330	16130	9	G	C	C	40	40	TBC1D2	C	3	3
PRDM12	59335	broad.mit.edu	36	9	132546603	132546603	+	Missense_Mutation	SNP	A	C	C			TCGA-19-2625-01	TCGA-19-2625-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:132546603A>C	uc004bzt.1	+	c.830A>C	c.(829-831)AAC>ACC	p.N277T		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	277	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)												0.307692	8.893344	9.323043	4	9	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	Missense_Mutation	SNP	132546603	132546603	12895	9	A	C	C	2	2	PRDM12	C	4	4
ATP11C	286410	broad.mit.edu	36	X	138724790	138724790	+	Missense_Mutation	SNP	T	A	A			TCGA-19-2625-01	TCGA-19-2625-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:138724790T>A	uc004faz.1	-	c.348A>T	c.(346-348)AGA>AGT	p.R116S	ATP11C_uc004fba.1_Missense_Mutation_p.R116S	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	116	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)													0.291262	81.608244	85.628525	30	73	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138724790	138724790	1140	23	T	A	A	58	58	ATP11C	A	4	4
TBX22	50945	broad.mit.edu	36	X	79167900	79167900	+	Missense_Mutation	SNP	C	G	G			TCGA-19-2625-01	TCGA-19-2625-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:79167900C>G	uc010nmg.1	+	c.601C>G	c.(601-603)CTC>GTC	p.L201V	TBX22_uc004edi.1_Missense_Mutation_p.L81V|TBX22_uc004edj.1_Missense_Mutation_p.L201V	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	201	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity	p.L201I(1)		large_intestine(3)|central_nervous_system(2)|lung(1)|ovary(1)	7										298				0.214286	32.97014	37.190119	12	44	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79167900	79167900	16184	23	C	G	G	20	20	TBX22	G	3	3
SMAP1	60682	broad.mit.edu	36	6	71565091	71565091	+	Frame_Shift_Del	DEL	A	-	-			TCGA-19-2625-01	TCGA-19-2625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:71565091_71565091delA	uc003pfr.1	+	c.506_506delA	c.(505-507)GAAfs	p.E169fs	SMAP1_uc003pfs.1_Frame_Shift_Del_p.E142fs|SMAP1_uc010kao.1_Frame_Shift_Del_p.E142fs|SMAP1_uc010kap.1_Frame_Shift_Del_p.E159fs|SMAP1_uc003pft.1_5'UTR	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	stromal membrane-associated GTPase-activating	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding				0														0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	71565091	71565091	15264	6	A	-	-	9	9	SMAP1	-	5	5
