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
SLC18A2	6571	broad.mit.edu	36	10	119004857	119004857	+	Silent	SNP	C	T	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:119004857C>T	uc001ldd.1	+	c.780C>T	c.(778-780)CTC>CTT	p.L260L	SLC18A2_uc009xyy.1_Silent_p.L57L	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	260	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)			Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)									0.816667	164.507541	170.152783	49	11	CC		KEEP	---	---	---	---	capture		all cancers(201;0.029)	Silent	SNP	119004857	119004857	14922	10	C	T	T	32	32	SLC18A2	T	2	2
PTEN	5728	broad.mit.edu	36	10	89643806	89643806	+	Missense_Mutation	SNP	C	G	G			TCGA-28-5216-01	TCGA-28-5216-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89643806C>G	uc001kfb.1	+	c.124C>G	c.(124-126)CTT>GTT	p.L42V		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	42	Phosphatase tensin-type.		L -> R (in glioma; retains phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).		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.0?(12)|p.Y27_N212>Y(2)		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)			0.696429	301.696923	305.553431	78	34	CC		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	89643806	89643806	13192	10	C	G	G	20	20	PTEN	G	3	3
C11orf70	85016	broad.mit.edu	36	11	101457224	101457224	+	Splice_Site_SNP	SNP	T	C	C			TCGA-28-5216-01	TCGA-28-5216-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:101457224T>C	uc001pgp.1	+	c.675_splice	c.e6+2	p.Y225_splice	C11orf70_uc001pgq.1_Splice_Site_SNP_p.Y187_splice	NM_032930	NP_116319			hypothetical protein LOC85016												0	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)												0.230088	77.400951	84.939876	26	87	TT		KEEP	---	---	---	---	capture	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	Splice_Site_SNP	SNP	101457224	101457224	1698	11	T	C	C	57	57	C11orf70	C	5	4
BRSK2	9024	broad.mit.edu	36	11	1389377	1389377	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5216-01	TCGA-28-5216-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1389377T>C	uc001ltm.2	+	c.167T>C	c.(166-168)CTC>CCC	p.L56P	BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001lti.2_Intron|BRSK2_uc001ltj.1_Intron|BRSK2_uc001ltk.1_Intron|BRSK2_uc001ltl.1_Intron	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	21	Protein kinase.				establishment of cell polarity|neuron differentiation|protein phosphorylation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)								1394				0.6	7.113702	7.155384	3	2	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	Missense_Mutation	SNP	1389377	1389377	1555	11	T	C	C	54	54	BRSK2	C	4	4
OR51E1	143503	broad.mit.edu	36	11	4630543	4630543	+	Missense_Mutation	SNP	G	C	C			TCGA-28-5216-01	TCGA-28-5216-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4630543G>C	uc001lzi.2	+	c.208G>C	c.(208-210)GGC>CGC	p.G70R	OR51E1_uc001lzj.1_Missense_Mutation_p.G70R	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|pancreas(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)												0.373832	119.279971	120.772836	40	67	GG		KEEP	---	---	---	---	capture		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	4630543	4630543	11504	11	G	C	C	35	35	OR51E1	C	3	3
OR4B1	119765	broad.mit.edu	36	11	48195301	48195301	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5216-01	TCGA-28-5216-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:48195301G>A	uc001ngr.1	+	c.364G>A	c.(364-366)GTG>ATG	p.V122M		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2														0.425676	162.784849	163.499679	63	85	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48195301	48195301	11450	11	G	A	A	40	40	OR4B1	A	1	1
MS4A14	84689	broad.mit.edu	36	11	59920657	59920657	+	Silent	SNP	A	T	T			TCGA-28-5216-01	TCGA-28-5216-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59920657A>T	uc001npj.1	+	c.30A>T	c.(28-30)GCA>GCT	p.A10A	MS4A14_uc001npi.1_Intron|MS4A14_uc001npn.1_5'UTR|MS4A14_uc001npk.1_Silent_p.A10A|MS4A14_uc001npl.1_5'UTR|MS4A14_uc001npm.1_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	10						integral to membrane	receptor activity			breast(1)	1														0.555556	124.306837	124.500879	40	32	AA		KEEP	---	---	---	---	capture			Silent	SNP	59920657	59920657	10251	11	A	T	T	5	5	MS4A14	T	4	4
GDPD5	81544	broad.mit.edu	36	11	74837683	74837683	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:74837683C>T	uc001owo.2	-	c.701G>A	c.(700-702)CGC>CAC	p.R234H	GDPD5_uc009yuc.1_Missense_Mutation_p.R96H|GDPD5_uc009yud.1_Missense_Mutation_p.R115H|GDPD5_uc001owp.2_Missense_Mutation_p.R234H|GDPD5_uc009yue.1_Missense_Mutation_p.R122H|GDPD5_uc001own.2_5'UTR	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain	234	Extracellular (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			ovary(1)	1														0.508772	83.073027	83.076845	29	28	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74837683	74837683	6595	11	C	T	T	27	27	GDPD5	T	1	1
USP35	57558	broad.mit.edu	36	11	77598366	77598366	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5216-01	TCGA-28-5216-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:77598366G>A	uc009yva.1	+	c.1817G>A	c.(1816-1818)TGT>TAT	p.C606Y	USP35_uc001oze.2_Missense_Mutation_p.C362Y|USP35_uc001ozc.2_Missense_Mutation_p.C174Y|USP35_uc001ozd.2_Missense_Mutation_p.C217Y|USP35_uc001ozf.2_Missense_Mutation_p.C337Y	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	606					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)													0.267516	90.770953	98.442113	42	115	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		Missense_Mutation	SNP	77598366	77598366	17630	11	G	A	A	48	48	USP35	A	2	2
HEPHL1	341208	broad.mit.edu	36	11	93443266	93443266	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5216-01	TCGA-28-5216-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:93443266G>A	uc001pep.2	+	c.1142G>A	c.(1141-1143)CGC>CAC	p.R381H		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	381	Plastocyanin-like 3.|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)												0.441176	41.418518	41.521234	15	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93443266	93443266	7338	11	G	A	A	38	38	HEPHL1	A	1	1
ARL1	400	broad.mit.edu	36	12	100320827	100320827	+	Silent	SNP	C	T	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:100320827C>T	uc001tib.1	-	c.171G>A	c.(169-171)ACG>ACA	p.T57T	ARL1_uc001tic.1_Silent_p.T57T	NM_001177	NP_001168	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	57					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding			central_nervous_system(1)	1		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)												0.321429	91.459197	94.632149	36	76	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)	Silent	SNP	100320827	100320827	940	12	C	T	T	19	19	ARL1	T	1	1
SOX5	6660	broad.mit.edu	36	12	23940053	23940053	+	Missense_Mutation	SNP	A	G	G			TCGA-28-5216-01	TCGA-28-5216-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:23940053A>G	uc001rfw.1	-	c.211T>C	c.(211-213)TCT>CCT	p.S71P	SOX5_uc001rfx.1_Missense_Mutation_p.S58P|SOX5_uc001rfy.1_Missense_Mutation_p.S58P|SOX5_uc001rfz.1_Intron|SOX5_uc001rga.2_Intron	NM_006940	NP_694534	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	71					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6														0.523139	901.503677	901.735122	260	237	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23940053	23940053	15454	12	A	G	G	9	9	SOX5	G	4	4
CEP290	80184	broad.mit.edu	36	12	87029701	87029701	+	Silent	SNP	A	G	G			TCGA-28-5216-01	TCGA-28-5216-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:87029701A>G	uc001tar.1	-	c.2118T>C	c.(2116-2118)GAT>GAC	p.D706D	CEP290_uc001tat.2_Silent_p.D499D|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	706	Potential.				cell projection organization|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding|transcription activator activity			ovary(5)|breast(1)|pancreas(1)	7														0.12	13.725784	24.345983	9	66	AA		KEEP	---	---	---	---	capture			Silent	SNP	87029701	87029701	3386	12	A	G	G	12	12	CEP290	G	4	4
GPR132	29933	broad.mit.edu	36	14	104589294	104589294	+	Silent	SNP	G	A	A			TCGA-28-5216-01	TCGA-28-5216-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104589294G>A	uc001yqd.1	-	c.225C>T	c.(223-225)AAC>AAT	p.N75N	GPR132_uc001yqe.1_Silent_p.N66N|GPR132_uc001yqc.1_De_novo_Start_OutOfFrame	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	75	Cytoplasmic (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)												0.865854	210.353662	220.995841	71	11	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	Silent	SNP	104589294	104589294	6916	14	G	A	A	40	40	GPR132	A	1	1
HEATR5A	25938	broad.mit.edu	36	14	30886724	30886724	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:30886724C>T	uc001wrf.2	-	c.1970G>A	c.(1969-1971)AGC>AAC	p.S657N	HEATR5A_uc010ami.1_Missense_Mutation_p.S555N|HEATR5A_uc001wrg.1_Missense_Mutation_p.S539N	NM_015473	NP_056288			HEAT repeat containing 5A											ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)													0.619048	40.978471	41.239484	13	8	CC		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	Missense_Mutation	SNP	30886724	30886724	7314	14	C	T	T	28	28	HEATR5A	T	2	2
UMOD	7369	broad.mit.edu	36	16	20265117	20265117	+	Missense_Mutation	SNP	A	T	T			TCGA-28-5216-01	TCGA-28-5216-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20265117A>T	uc002dhb.1	-	c.1113T>A	c.(1111-1113)AAT>AAA	p.N371K	UMOD_uc002dgz.1_Missense_Mutation_p.N338K|UMOD_uc002dha.1_Missense_Mutation_p.N338K	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	338	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)	1														0.272	92.613563	98.460054	34	91	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20265117	20265117	17537	16	A	T	T	8	8	UMOD	T	4	4
MYH2	4620	broad.mit.edu	36	17	10369102	10369102	+	Silent	SNP	A	G	G			TCGA-28-5216-01	TCGA-28-5216-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10369102A>G	uc010coi.1	-	c.4668T>C	c.(4666-4668)TCT>TCC	p.S1556S	MYH2_uc002gmp.2_Silent_p.S1556S|MYH2_uc010coj.1_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1556	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														0.846154	725.480474	750.805884	187	34	AA		KEEP	---	---	---	---	capture			Silent	SNP	10369102	10369102	10430	17	A	G	G	11	11	MYH2	G	4	4
ABCA8	10351	broad.mit.edu	36	17	64435731	64435731	+	Silent	SNP	A	T	T			TCGA-28-5216-01	TCGA-28-5216-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:64435731A>T	uc002jhq.1	-	c.1194T>A	c.(1192-1194)ATT>ATA	p.I398I	ABCA8_uc002jhp.1_Silent_p.I398I|ABCA8_uc002jhr.1_Silent_p.I79I	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	398	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2	Breast(10;4.56e-13)													0.821053	262.412384	271.663233	78	17	AA		KEEP	---	---	---	---	capture			Silent	SNP	64435731	64435731	39	17	A	T	T	5	5	ABCA8	T	4	4
TP53	7157	broad.mit.edu	36	17	7518260	7518260	+	Missense_Mutation	SNP	C	A	A			TCGA-28-5216-01	TCGA-28-5216-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7518260C>A	uc002gim.2	-	c.746G>T	c.(745-747)AGG>ATG	p.R249M	TP53_uc002gig.1_Missense_Mutation_p.R249M|TP53_uc002gih.1_Missense_Mutation_p.R249M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117M|TP53_uc010cng.1_Missense_Mutation_p.R117M|TP53_uc002gii.1_Missense_Mutation_p.R117M|TP53_uc010cnh.1_Missense_Mutation_p.R249M|TP53_uc010cni.1_Missense_Mutation_p.R249M|TP53_uc002gij.2_Missense_Mutation_p.R249M|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R156M|TP53_uc002gio.2_Missense_Mutation_p.R117M	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	249	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (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.R249M(25)|p.R249T(15)|p.R249K(14)|p.0?(6)|p.R249fs*96(4)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R156_A161del(1)|p.R249_I251delRPI(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		690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.766667	141.571419	145.472784	46	14	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7518260	7518260	16923	17	C	A	A	24	24	TP53	A	3	3
CHD3	1107	broad.mit.edu	36	17	7751988	7751988	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5216-01	TCGA-28-5216-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7751988G>A	uc002gjd.2	+	c.5213G>A	c.(5212-5214)CGG>CAG	p.R1738Q	CHD3_uc002gje.2_Missense_Mutation_p.R1693Q|CHD3_uc002gjf.2_Missense_Mutation_p.R1659Q|CHD3_uc002gjh.2_Missense_Mutation_p.R270Q|CHD3_uc002gjj.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1693	Required for interaction with PCNT.				chromatin assembly or disassembly|chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)												0.362069	171.576703	174.489967	63	111	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7751988	7751988	3460	17	G	A	A	39	39	CHD3	A	1	1
DSG3	1830	broad.mit.edu	36	18	27306347	27306347	+	Missense_Mutation	SNP	A	G	G			TCGA-28-5216-01	TCGA-28-5216-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:27306347A>G	uc002kws.1	+	c.2000A>G	c.(1999-2001)CAT>CGT	p.H667R	DSG3_uc002kwt.1_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	667	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5														0.190476	56.043871	67.315367	24	102	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		Missense_Mutation	SNP	27306347	27306347	4962	18	A	G	G	8	8	DSG3	G	4	4
RFX1	5989	broad.mit.edu	36	19	13940442	13940442	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:13940442C>T	uc002mxv.1	-	c.1667G>A	c.(1666-1668)GGG>GAG	p.G556E		NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	556					immune response|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulator activity			lung(1)|pancreas(1)	2														0.333333	80.507107	83.082989	35	70	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		Missense_Mutation	SNP	13940442	13940442	13734	19	C	T	T	22	22	RFX1	T	2	2
CPAMD8	27151	broad.mit.edu	36	19	16874524	16874524	+	Silent	SNP	G	A	A			TCGA-28-5216-01	TCGA-28-5216-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16874524G>A	uc002nfb.1	-	c.4761C>T	c.(4759-4761)GAC>GAT	p.D1587D	CPAMD8_uc002nfd.1_Silent_p.D52D	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1540	Poly-Asp.					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)	12										1067				0.352273	79.204084	80.895083	31	57	GG		KEEP	---	---	---	---	capture			Silent	SNP	16874524	16874524	3933	19	G	A	A	40	40	CPAMD8	A	1	1
ZFR2	23217	broad.mit.edu	36	19	3774274	3774274	+	Silent	SNP	C	A	A			TCGA-28-5216-01	TCGA-28-5216-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3774274C>A	uc002lyw.2	-	c.1341G>T	c.(1339-1341)GCG>GCT	p.A447A		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	447						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2														0.090625	11.632645	65.625873	29	291	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	Silent	SNP	3774274	3774274	18250	19	C	A	A	27	27	ZFR2	A	3	3
CEACAM20	125931	broad.mit.edu	36	19	49712925	49712925	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49712925C>T	uc010ejn.1	-	c.1231G>A	c.(1231-1233)GAC>AAC	p.D411N	CEACAM20_uc010ejo.1_Missense_Mutation_p.D411N|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion	411	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane				large_intestine(2)	2		Prostate(69;0.0352)												0.578947	30.422268	30.524771	11	8	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49712925	49712925	3324	19	C	T	T	31	31	CEACAM20	T	1	1
VN1R2	317701	broad.mit.edu	36	19	58453680	58453680	+	Silent	SNP	C	T	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:58453680C>T	uc002qbi.2	+	c.240C>T	c.(238-240)CAC>CAT	p.H80H		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	80	Cytoplasmic (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0														0.529412	51.247474	51.27276	18	16	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00301)	Silent	SNP	58453680	58453680	17746	19	C	T	T	19	19	VN1R2	T	1	1
XCL1	6375	broad.mit.edu	36	1	166815942	166815942	+	Missense_Mutation	SNP	T	G	G			TCGA-28-5216-01	TCGA-28-5216-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:166815942T>G	uc001gfo.1	+	c.79T>G	c.(79-81)TCA>GCA	p.S27A		NM_002995	NP_002986	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	27					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of T-helper 1 type immune response|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|signal transduction|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity				0	all_hematologic(923;0.208)													0.41	229.783324	231.204765	82	118	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	166815942	166815942	18004	1	T	G	G	54	54	XCL1	G	4	4
MMP9	4318	broad.mit.edu	36	20	44073221	44073221	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5216-01	TCGA-28-5216-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44073221G>A	uc002xqz.1	+	c.682G>A	c.(682-684)GCG>ACG	p.A228T		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	228	Fibronectin type-II 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.A228A(1)		ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)					462				0.639175	509.946832	514.92708	186	105	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44073221	44073221	10060	20	G	A	A	38	38	MMP9	A	1	1
SALL4	57167	broad.mit.edu	36	20	49841841	49841841	+	Silent	SNP	C	A	A			TCGA-28-5216-01	TCGA-28-5216-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:49841841C>A	uc002xwh.2	-	c.588G>T	c.(586-588)CGG>CGT	p.R196R	SALL4_uc010gii.1_Silent_p.R196R|SALL4_uc002xwi.2_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	196					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.3	200.585209	210.967015	87	203	CC		KEEP	---	---	---	---	capture			Silent	SNP	49841841	49841841	14293	20	C	A	A	30	30	SALL4	A	3	3
TTN	7273	broad.mit.edu	36	2	179204245	179204245	+	Missense_Mutation	SNP	A	C	C			TCGA-28-5216-01	TCGA-28-5216-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179204245A>C	uc002umr.1	-	c.36071T>G	c.(36070-36072)CTT>CGT	p.L12024R	TTN_uc002ums.1_Missense_Mutation_p.L5719R|TTN_uc010frc.1_Missense_Mutation_p.L5652R|TTN_uc010frd.1_Missense_Mutation_p.L5527R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12951										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153										8722				0.244898	30.174785	33.080262	12	37	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179204245	179204245	17290	2	A	C	C	3	3	TTN	C	4	4
ZDBF2	57683	broad.mit.edu	36	2	206879254	206879254	+	Missense_Mutation	SNP	A	G	G			TCGA-28-5216-01	TCGA-28-5216-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:206879254A>G	uc002vbp.2	+	c.1757A>G	c.(1756-1758)GAT>GGT	p.D586G		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	586							nucleic acid binding|zinc ion binding			ovary(3)	3														0.27907	74.86858	78.640066	24	62	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	206879254	206879254	18187	2	A	G	G	12	12	ZDBF2	G	4	4
EMX1	2016	broad.mit.edu	36	2	73005048	73005048	+	Missense_Mutation	SNP	A	G	G			TCGA-28-5216-01	TCGA-28-5216-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:73005048A>G	uc002sin.1	+	c.623A>G	c.(622-624)GAG>GGG	p.E208G	EMX1_uc002sim.1_Silent_p.G160G	NM_004097	NP_004088	Q04741	EMX1_HUMAN	empty spiracles homolog 1	175	Homeobox.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.444444	7.088426	7.127841	4	5	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73005048	73005048	5300	2	A	G	G	11	11	EMX1	G	4	4
SETD2	29072	broad.mit.edu	36	3	47102765	47102765	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5216-01	TCGA-28-5216-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47102765T>C	uc003cqs.1	-	c.3812A>G	c.(3811-3813)CAT>CGT	p.H1271R	SETD2_uc003cqt.1_5'Flank	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1774					oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)												0.276596	103.667288	110.000213	39	102	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	Missense_Mutation	SNP	47102765	47102765	14620	3	T	C	C	51	51	SETD2	C	4	4
SLMAP	7871	broad.mit.edu	36	3	57873273	57873273	+	Missense_Mutation	SNP	G	T	T			TCGA-28-5216-01	TCGA-28-5216-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:57873273G>T	uc003dje.1	+	c.1774G>T	c.(1774-1776)GCA>TCA	p.A592S	SLMAP_uc003djd.1_Missense_Mutation_p.A575S|SLMAP_uc003djf.1_Missense_Mutation_p.A554S|SLMAP_uc003djg.1_Missense_Mutation_p.A186S|SLMAP_uc003djh.2_Missense_Mutation_p.A85S|SLMAP_uc003dji.1_Missense_Mutation_p.A126S	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	592	Cytoplasmic (Potential).|Potential.				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0														0.590909	324.618608	325.886643	104	72	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	Missense_Mutation	SNP	57873273	57873273	15247	3	G	T	T	34	34	SLMAP	T	3	3
KIAA1109	84162	broad.mit.edu	36	4	123457463	123457463	+	Missense_Mutation	SNP	C	G	G			TCGA-28-5216-01	TCGA-28-5216-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:123457463C>G	uc003ieh.1	+	c.10666C>G	c.(10666-10668)CTG>GTG	p.L3556V	KIAA1109_uc003iel.1_Missense_Mutation_p.L1491V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	hypothetical protein LOC84162	3556					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.444444	122.389233	122.607202	36	45	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123457463	123457463	8516	4	C	G	G	32	32	KIAA1109	G	3	3
KIAA1712	80817	broad.mit.edu	36	4	175466413	175466413	+	Splice_Site_SNP	SNP	A	G	G			TCGA-28-5216-01	TCGA-28-5216-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:175466413A>G	uc010iro.1	+	c.508_splice	c.e7-2	p.K170_splice	KIAA1712_uc003itr.1_Splice_Site_SNP_p.K170_splice|KIAA1712_uc003its.1_Splice_Site_SNP	NM_001040157	NP_001035247			HBV PreS1-transactivated protein 3 isoform a												0		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)												0.421429	176.403466	177.156892	59	81	AA		KEEP	---	---	---	---	capture		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)	Splice_Site_SNP	SNP	175466413	175466413	8563	4	A	G	G	7	7	KIAA1712	G	5	4
ZNF608	57507	broad.mit.edu	36	5	124108286	124108286	+	Missense_Mutation	SNP	T	G	G			TCGA-28-5216-01	TCGA-28-5216-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:124108286T>G	uc003ktq.1	-	c.296A>C	c.(295-297)AAA>ACA	p.K99T	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003kts.1_Missense_Mutation_p.K99T|ZNF608_uc003ktt.1_Missense_Mutation_p.K99T	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	99						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)								447				0.496241	234.453118	234.454693	66	67	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	Missense_Mutation	SNP	124108286	124108286	18629	5	T	G	G	64	64	ZNF608	G	4	4
PCDHA1	56147	broad.mit.edu	36	5	140146511	140146511	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5216-01	TCGA-28-5216-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140146511G>A	uc003lhb.1	+	c.452G>A	c.(451-453)CGT>CAT	p.R151H	PCDHA1_uc003lha.1_Missense_Mutation_p.R151H|PCDHA1_uc003lgz.1_Missense_Mutation_p.R151H	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	151	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding				0														0.442804	321.094643	321.875406	120	151	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140146511	140146511	11939	5	G	A	A	40	40	PCDHA1	A	1	1
MYLIP	29116	broad.mit.edu	36	6	16249860	16249860	+	Missense_Mutation	SNP	G	C	C			TCGA-28-5216-01	TCGA-28-5216-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:16249860G>C	uc003nbq.1	+	c.304G>C	c.(304-306)GAG>CAG	p.E102Q	MYLIP_uc003nbr.1_5'UTR	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting	102	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)												0.426036	245.385079	246.185232	72	97	GG		KEEP	---	---	---	---	capture	Epithelial(50;0.241)		Missense_Mutation	SNP	16249860	16249860	10450	6	G	C	C	41	41	MYLIP	C	3	3
MUC17	140453	broad.mit.edu	36	7	100488032	100488032	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100488032C>T	uc003uxp.1	+	c.13469C>T	c.(13468-13470)ACG>ATG	p.T4490M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17	4490	Cytoplasmic (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.333333	129.721025	133.339804	49	98	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100488032	100488032	10368	7	C	T	T	19	19	MUC17	T	1	1
OR6B1	135946	broad.mit.edu	36	7	143332231	143332231	+	Missense_Mutation	SNP	A	T	T			TCGA-28-5216-01	TCGA-28-5216-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:143332231A>T	uc003wdt.1	+	c.209A>T	c.(208-210)GAG>GTG	p.E70V		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)													0.479263	289.375543	289.456982	104	113	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143332231	143332231	11597	7	A	T	T	11	11	OR6B1	T	4	4
C7orf65	401335	broad.mit.edu	36	7	47665118	47665118	+	Missense_Mutation	SNP	C	A	A			TCGA-28-5216-01	TCGA-28-5216-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:47665118C>A	uc010kyp.1	+	c.223C>A	c.(223-225)CTA>ATA	p.L75I		NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN	hypothetical protein LOC401335	75											0														0.44086	118.558316	118.842366	41	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47665118	47665118	2518	7	C	A	A	28	28	C7orf65	A	3	3
KCNK9	51305	broad.mit.edu	36	8	140699699	140699699	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:140699699C>T	uc003yvf.1	-	c.1109G>A	c.(1108-1110)CGC>CAC	p.R370H	KCNK9_uc003yvg.1_Missense_Mutation_p.R370H|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	370	Cytoplasmic (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)												0.46798	262.695493	262.877088	95	108	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Missense_Mutation	SNP	140699699	140699699	8377	8	C	T	T	27	27	KCNK9	T	1	1
PLEC	5339	broad.mit.edu	36	8	145064133	145064133	+	Silent	SNP	C	T	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145064133C>T	uc003zaf.1	-	c.12255G>A	c.(12253-12255)TCG>TCA	p.S4085S	PLEC_uc003zag.1_Silent_p.S3926S|PLEC_uc003zah.1_Silent_p.S3934S|PLEC_uc003zai.1_Silent_p.S3975S|PLEC_uc003zaj.1_Silent_p.S3975S|PLEC_uc003zab.1_Silent_p.S3948S|PLEC_uc003zac.1_Silent_p.S3952S|PLEC_uc003zad.1_Silent_p.S3948S|PLEC_uc003zae.1_Silent_p.S3916S	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin 1 isoform 6	4085	Plectin 22.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.319149	38.713113	40.076755	15	32	CC		KEEP	---	---	---	---	capture			Silent	SNP	145064133	145064133	12478	8	C	T	T	23	23	PLEC	T	1	1
RUNX1T1	862	broad.mit.edu	36	8	93096212	93096212	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5216-01	TCGA-28-5216-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:93096212G>A	uc003yfd.2	-	c.239C>T	c.(238-240)ACG>ATG	p.T80M	RUNX1T1_uc003yfb.1_Missense_Mutation_p.T43M|RUNX1T1_uc003yfc.1_Missense_Mutation_p.T53M|RUNX1T1_uc003yfe.1_Missense_Mutation_p.T43M|RUNX1T1_uc010mao.1_Missense_Mutation_p.T53M|RUNX1T1_uc003yff.1_Missense_Mutation_p.T43M|RUNX1T1_uc003yfg.1_Missense_Mutation_p.T43M|RUNX1T1_uc003yfh.1_Missense_Mutation_p.T43M	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	80					generation of precursor metabolites and energy|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|central_nervous_system(1)|pancreas(1)	5										213				0.595238	145.55399	146.217974	50	34	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(11;0.0141)		Missense_Mutation	SNP	93096212	93096212	14227	8	G	A	A	40	40	RUNX1T1	A	1	1
CXorf65	158830	broad.mit.edu	36	X	70242586	70242586	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5216-01	TCGA-28-5216-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70242586C>T	uc004dyu.1	-	c.239G>A	c.(238-240)CGT>CAT	p.R80H		NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	hypothetical protein LOC158830	80										central_nervous_system(1)	1														0.870968	337.953392	354.558242	108	16	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70242586	70242586	4282	23	C	T	T	19	19	CXorf65	T	1	1
LGALS9B	284194	broad.mit.edu	36	17	20311374	20311375	+	Frame_Shift_Ins	INS	-	TC	TC			TCGA-28-5216-01	TCGA-28-5216-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:20311374_20311375insTC	uc002gxa.1	-	c.1_2insGA	c.(1-3)ATGfs	p.M1fs	LGALS9B_uc002gwz.1_Frame_Shift_Ins_p.M1fs	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	galectin-9 like	1							sugar binding				0														0.50			3	3				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	20311374	20311375	9075	17	-	TC	TC	8	8	LGALS9B	TC	5	5
