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
AFAP1L2	84632	broad.mit.edu	36	10	116052131	116052131	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:116052131C>T	uc001lbp.1	-	c.1471G>A	c.(1471-1473)GAT>AAT	p.D491N	AFAP1L2_uc001lbn.1_Missense_Mutation_p.D463N|AFAP1L2_uc001lbo.1_Missense_Mutation_p.D463N|AFAP1L2_uc001lbr.1_Missense_Mutation_p.D463N|AFAP1L2_uc001lbm.1_5'Flank|AFAP1L2_uc001lbq.1_5'Flank	NM_032550	NP_115939	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 2	463					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)												0.688525	412.11621	417.920385	126	57	CC		KEEP	---	---	---	---	capture		Epithelial(162;0.0219)|all cancers(201;0.0561)	Missense_Mutation	SNP	116052131	116052131	356	10	C	T	T	31	31	AFAP1L2	T	1	1
ADARB2	105	broad.mit.edu	36	10	1252895	1252895	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:1252895C>T	uc009xhq.1	-	c.1678G>A	c.(1678-1680)GCC>ACC	p.A560T		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	560	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)								191				0.5	50.44317	50.44317	18	18	CC		KEEP	---	---	---	---	capture		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	Missense_Mutation	SNP	1252895	1252895	284	10	C	T	T	27	27	ADARB2	T	1	1
GDF10	2662	broad.mit.edu	36	10	48049394	48049394	+	Silent	SNP	C	T	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:48049394C>T	uc001jfb.1	-	c.498G>A	c.(496-498)CCG>CCA	p.P166P	GDF10_uc009xnp.1_Silent_p.P165P|GDF10_uc009xnq.1_Silent_p.P166P	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	166					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2														0.8	37.60408	38.858325	12	3	CC		KEEP	---	---	---	---	capture			Silent	SNP	48049394	48049394	6579	10	C	T	T	27	27	GDF10	T	1	1
MAT1A	4143	broad.mit.edu	36	10	82024313	82024313	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:82024313C>T	uc001kbw.1	-	c.1028G>A	c.(1027-1029)CGA>CAA	p.R343Q		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	343					cellular amino acid metabolic process|methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)									0.703297	210.840413	214.215093	64	27	CC		KEEP	---	---	---	---	capture	Colorectal(32;0.229)		Missense_Mutation	SNP	82024313	82024313	9713	10	C	T	T	31	31	MAT1A	T	1	1
PTEN	5728	broad.mit.edu	36	10	89710650	89710651	+	Missense_Mutation	DNP	GG	CT	CT			TCGA-27-1838-01	TCGA-27-1838-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:89710650_89710651GG>CT	uc001kfb.1	+	c.821_822GG>CT	c.(820-822)TGG>TCT	p.W274S		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	274	C2 tensin-type.				apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of cyclin-dependent protein kinase activity|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.W274*(6)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.W274_F341del(1)|p.G165_K342del(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	p.W274*(WM793-Tumor)|p.W274fs(BT549-Tumor)|p.W274*(P12ICHIKAWA-Tumor)	264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.666667	73.011341	73.750416	20	10	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	Missense_Mutation	DNP	89710650	89710651	13192	10	GG	CT	CT	47	47	PTEN	CT	3	3
PGR	5241	broad.mit.edu	36	11	100438473	100438473	+	Missense_Mutation	SNP	G	T	T			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:100438473G>T	uc001pgh.2	-	c.2127C>A	c.(2125-2127)GAC>GAA	p.D709E	PGR_uc001pgg.2_Missense_Mutation_p.D90E|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	709	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)			Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	Pancreas(124;2271 2354 21954 22882)				429				0.10452	30.101786	85.195213	37	317	GG		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Missense_Mutation	SNP	100438473	100438473	12228	11	G	T	T	48	48	PGR	T	3	3
C11orf35	256329	broad.mit.edu	36	11	546891	546891	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:546891C>T	uc001lpx.1	-	c.920G>A	c.(919-921)CGC>CAC	p.R307H		NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	hypothetical protein LOC256329	307										pancreas(1)	1		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)												0.3	15.052154	15.761328	6	14	CC		KEEP	---	---	---	---	capture		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Missense_Mutation	SNP	546891	546891	1677	11	C	T	T	27	27	C11orf35	T	1	1
OR4A15	81328	broad.mit.edu	36	11	54892325	54892325	+	Silent	SNP	T	C	C			TCGA-27-1838-01	TCGA-27-1838-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:54892325T>C	uc001nhn.1	+	c.390T>C	c.(388-390)TTT>TTC	p.F130F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	130	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.083077	34.680907	149.486789	54	596	TT		KEEP	---	---	---	---	capture			Silent	SNP	54892325	54892325	11446	11	T	C	C	61	61	OR4A15	C	4	4
OR8H2	390151	broad.mit.edu	36	11	55629786	55629786	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55629786C>T	uc001nih.1	+	c.692C>T	c.(691-693)ACT>ATT	p.T231I		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Esophageal squamous(21;0.00693)													0.287879	261.078108	274.400922	95	235	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55629786	55629786	11649	11	C	T	T	20	20	OR8H2	T	2	2
ZP1	22917	broad.mit.edu	36	11	60393796	60393796	+	Missense_Mutation	SNP	C	G	G			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60393796C>G	uc001nqd.1	+	c.529C>G	c.(529-531)CAT>GAT	p.H177D	ZP1_uc001nqe.1_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1	177	Extracellular (Potential).				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0														0.120482	14.489727	26.213723	10	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60393796	60393796	18819	11	C	G	G	21	21	ZP1	G	3	3
ABCC9	10060	broad.mit.edu	36	12	21851647	21851647	+	Missense_Mutation	SNP	C	G	G			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:21851647C>G	uc001rfh.1	-	c.4349G>C	c.(4348-4350)AGC>ACC	p.S1450T	ABCC9_uc001rfi.1_Missense_Mutation_p.S1450T|ABCC9_uc001rfj.1_Missense_Mutation_p.S1414T|ABCC9_uc001rfg.1_5'UTR	NM_020297	NP_064693	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1450	Cytoplasmic (Potential).|ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)	4					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.213542	109.564553	124.120576	41	151	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21851647	21851647	60	12	C	G	G	28	28	ABCC9	G	3	3
ABCC9	10060	broad.mit.edu	36	12	21860051	21860051	+	Missense_Mutation	SNP	G	C	C			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:21860051G>C	uc001rfh.1	-	c.3936C>G	c.(3934-3936)ATC>ATG	p.I1312M	ABCC9_uc001rfi.1_Missense_Mutation_p.I1312M|ABCC9_uc001rfj.1_Missense_Mutation_p.I1276M	NM_020297	NP_064693	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1312	Cytoplasmic (Potential).|ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)	4					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.233333	145.465353	159.133785	49	161	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21860051	21860051	60	12	G	C	C	45	45	ABCC9	C	3	3
ABCC9	10060	broad.mit.edu	36	12	21861457	21861457	+	Nonsense_Mutation	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:21861457G>A	uc001rfh.1	-	c.3823C>T	c.(3823-3825)CAG>TAG	p.Q1275*	ABCC9_uc001rfi.1_Nonsense_Mutation_p.Q1275*|ABCC9_uc001rfj.1_Nonsense_Mutation_p.Q1239*	NM_020297	NP_064693	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1275	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)	4					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.240964	270.188313	295.595623	100	315	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	21861457	21861457	60	12	G	A	A	47	47	ABCC9	A	5	2
ABCC9	10060	broad.mit.edu	36	12	21873180	21873180	+	Missense_Mutation	SNP	G	T	T			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:21873180G>T	uc001rfh.1	-	c.3648C>A	c.(3646-3648)AAC>AAA	p.N1216K	ABCC9_uc001rfi.1_Missense_Mutation_p.N1216K|ABCC9_uc001rfj.1_Missense_Mutation_p.N1180K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1216	Extracellular (Potential).|ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)	4					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.217241	156.258768	177.644423	63	227	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21873180	21873180	60	12	G	T	T	48	48	ABCC9	T	3	3
OR6C6	283365	broad.mit.edu	36	12	53974555	53974555	+	Missense_Mutation	SNP	C	G	G			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:53974555C>G	uc001sgt.1	-	c.729G>C	c.(727-729)ATG>ATC	p.M243I		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1														0.295337	184.298253	191.530335	57	136	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53974555	53974555	11604	12	C	G	G	29	29	OR6C6	G	3	3
NUP107	57122	broad.mit.edu	36	12	67401937	67401937	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:67401937G>A	uc001suf.1	+	c.1361G>A	c.(1360-1362)CGG>CAG	p.R454Q	NUP107_uc001sug.1_Missense_Mutation_p.R301Q	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	454					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding				0	Breast(13;6.25e-06)													0.315436	138.380131	142.890154	47	102	GG		KEEP	---	---	---	---	capture	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		Missense_Mutation	SNP	67401937	67401937	11158	12	G	A	A	39	39	NUP107	A	1	1
CDCA3	83461	broad.mit.edu	36	12	6829925	6829925	+	Missense_Mutation	SNP	T	C	C			TCGA-27-1838-01	TCGA-27-1838-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6829925T>C	uc001qrg.2	-	c.217A>G	c.(217-219)ATT>GTT	p.I73V	CDCA3_uc001qre.2_Missense_Mutation_p.I73V|USP5_uc001qri.2_5'Flank|USP5_uc001qrh.2_5'Flank	NM_031299	NP_112589	Q99618	CDCA3_HUMAN	cell division cycle associated 3	73					cell division|mitosis	cytosol					0														0.077778	9.741861	75.346564	28	332	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6829925	6829925	3216	12	T	C	C	49	49	CDCA3	C	4	4
KIF26A	26153	broad.mit.edu	36	14	103711789	103711789	+	Missense_Mutation	SNP	G	T	T			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:103711789G>T	uc001yos.2	+	c.2911G>T	c.(2911-2913)GGG>TGG	p.G971W		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	971					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)												0.277778	11.46305	12.266101	5	13	GG		KEEP	---	---	---	---	capture	Epithelial(46;0.152)	Epithelial(152;0.161)	Missense_Mutation	SNP	103711789	103711789	8605	14	G	T	T	35	35	KIF26A	T	3	3
GALNTL1	57452	broad.mit.edu	36	14	68864941	68864941	+	Missense_Mutation	SNP	G	A	A	rs61748871	unknown	TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:68864941G>A	uc010aqu.1	+	c.590G>A	c.(589-591)CGT>CAT	p.R197H	GALNTL1_uc001xla.1_Missense_Mutation_p.R197H|GALNTL1_uc001xlb.1_Missense_Mutation_p.R197H	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	197	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2														0.403226	289.481073	291.500983	100	148	GG		KEEP	---	---	---	---	capture		all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)	Missense_Mutation	SNP	68864941	68864941	6485	14	G	A	A	40	40	GALNTL1	A	1	1
ACOT1	641371	broad.mit.edu	36	14	73074159	73074159	+	Missense_Mutation	SNP	T	G	G			TCGA-27-1838-01	TCGA-27-1838-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:73074159T>G	uc001xol.1	+	c.281T>G	c.(280-282)GTG>GGG	p.V94G	HEATR4_uc010art.1_Intron	NM_001037161	NP_001032238	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	94					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	cytosol	carboxylesterase activity|palmitoyl-CoA hydrolase activity				0														0.285714	6.682605	7.268401	4	10	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)	Missense_Mutation	SNP	73074159	73074159	149	14	T	G	G	59	59	ACOT1	G	4	4
PAPOLA	10914	broad.mit.edu	36	14	96061447	96061447	+	Silent	SNP	A	G	G			TCGA-27-1838-01	TCGA-27-1838-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:96061447A>G	uc001yfq.1	+	c.297A>G	c.(295-297)ACA>ACG	p.T99T	PAPOLA_uc001yfr.1_Silent_p.T99T|PAPOLA_uc010avp.1_5'UTR|PAPOLA_uc001yfo.1_Silent_p.T99T|PAPOLA_uc001yfp.1_Silent_p.T99T	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	99					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)				NSCLC(19;254 734 11908 35501 39234)								0.286885	102.480454	107.447429	35	87	AA		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.213)	Silent	SNP	96061447	96061447	11846	14	A	G	G	8	8	PAPOLA	G	4	4
C15orf2	23742	broad.mit.edu	36	15	22473806	22473806	+	Missense_Mutation	SNP	T	C	C			TCGA-27-1838-01	TCGA-27-1838-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:22473806T>C	uc001ywo.1	+	c.1699T>C	c.(1699-1701)TCA>CCA	p.S567P		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	567					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)								443				0.280952	180.760662	189.801678	59	151	TT		KEEP	---	---	---	---	capture		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	Missense_Mutation	SNP	22473806	22473806	1834	15	T	C	C	54	54	C15orf2	C	4	4
DUOX2	50506	broad.mit.edu	36	15	43174940	43174940	+	Missense_Mutation	SNP	A	C	C			TCGA-27-1838-01	TCGA-27-1838-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:43174940A>C	uc010bea.1	-	c.4226T>G	c.(4225-4227)ATG>AGG	p.M1409R	DUOX2_uc001zun.1_Missense_Mutation_p.M1409R	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1409	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|pancreas(1)	3		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)												0.096045	19.743633	48.701292	17	160	AA		KEEP	---	---	---	---	capture		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	Missense_Mutation	SNP	43174940	43174940	4986	15	A	C	C	8	8	DUOX2	C	4	4
MEGF11	84465	broad.mit.edu	36	15	63993169	63993169	+	Silent	SNP	T	G	G			TCGA-27-1838-01	TCGA-27-1838-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:63993169T>G	uc002apm.2	-	c.2670A>C	c.(2668-2670)ACA>ACC	p.T890T	MEGF11_uc010bhn.1_Silent_p.T815T|MEGF11_uc002apl.2_Silent_p.T815T|MEGF11_uc002apn.1_Silent_p.T890T	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	890						basolateral plasma membrane|integral to membrane				pancreas(1)	1														0.272727	8.092656	9.15782	6	16	TT		KEEP	---	---	---	---	capture			Silent	SNP	63993169	63993169	9850	15	T	G	G	59	59	MEGF11	G	4	4
AQP8	343	broad.mit.edu	36	16	25140325	25140325	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:25140325G>A	uc002doc.1	+	c.307G>A	c.(307-309)GGA>AGA	p.G103R		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	103	Helical; (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			breast(1)|pancreas(1)	2														0.412322	261.556514	262.979185	87	124	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.044)	Missense_Mutation	SNP	25140325	25140325	843	16	G	A	A	39	39	AQP8	A	1	1
ZNF263	10127	broad.mit.edu	36	16	3279695	3279695	+	Missense_Mutation	SNP	C	A	A			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3279695C>A	uc002cuq.1	+	c.1188C>A	c.(1186-1188)CAC>CAA	p.H396Q	ZNF263_uc002cur.1_5'Flank	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	396	C2H2-type 1.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.386935	234.041746	236.266477	77	122	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3279695	3279695	18395	16	C	A	A	18	18	ZNF263	A	3	3
DPEP1	1800	broad.mit.edu	36	16	88232044	88232044	+	Nonsense_Mutation	SNP	C	A	A			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88232044C>A	uc010cin.1	+	c.1149C>A	c.(1147-1149)TAC>TAA	p.Y383*	DPEP1_uc002fnr.2_Nonsense_Mutation_p.Y383*|DPEP1_uc002fns.2_Nonsense_Mutation_p.Y383*	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN	dipeptidase 1	383					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(1)	1		all_lung(18;0.0054)|all_hematologic(23;0.094)			Cilastatin(DB01597)									0.151515	6.766133	10.598273	5	28	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Nonsense_Mutation	SNP	88232044	88232044	4897	16	C	A	A	20	20	DPEP1	A	5	3
DNAH9	1770	broad.mit.edu	36	17	11508936	11508936	+	Missense_Mutation	SNP	C	A	A			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:11508936C>A	uc002gne.1	+	c.2657C>A	c.(2656-2658)TCT>TAT	p.S886Y	DNAH9_uc010coo.1_Missense_Mutation_p.S180Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	886	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)												0.401042	214.122281	215.770473	77	115	CC		KEEP	---	---	---	---	capture		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	Missense_Mutation	SNP	11508936	11508936	4791	17	C	A	A	32	32	DNAH9	A	3	3
RARA	5914	broad.mit.edu	36	17	35741165	35741165	+	Missense_Mutation	SNP	T	C	C			TCGA-27-1838-01	TCGA-27-1838-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35741165T>C	uc002hum.1	+	c.169T>C	c.(169-171)TCC>CCC	p.S57P	RARA_uc002huk.1_Missense_Mutation_p.S57P|RARA_uc002hul.2_Missense_Mutation_p.S57P	NM_000964	NP_000955	P10276	RARA_HUMAN	retinoic acid receptor, alpha isoform 1	57	Modulating.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of gene-specific transcription|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene-specific transcription|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cell surface|cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription activator activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2		Breast(137;0.00328)			Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)					272				0.333333	12.263457	12.982874	9	18	TT		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(5;0.00143)		Missense_Mutation	SNP	35741165	35741165	13512	17	T	C	C	50	50	RARA	C	4	4
DHX58	79132	broad.mit.edu	36	17	37516888	37516888	+	Missense_Mutation	SNP	G	T	T			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37516888G>T	uc002hyw.2	-	c.322C>A	c.(322-324)CAG>AAG	p.Q108K	DHX58_uc002hyv.2_Intron	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	108	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)												0.410526	116.411521	117.074581	39	56	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.126)	Missense_Mutation	SNP	37516888	37516888	4693	17	G	T	T	46	46	DHX58	T	3	3
HEATR6	63897	broad.mit.edu	36	17	55492211	55492211	+	Missense_Mutation	SNP	G	C	C			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55492211G>C	uc002iyk.1	-	c.1445C>G	c.(1444-1446)TCT>TGT	p.S482C	HEATR6_uc010ddk.1_Missense_Mutation_p.S21C	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	482	HEAT 2.						binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)													0.416244	284.523306	285.728016	82	115	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		Missense_Mutation	SNP	55492211	55492211	7316	17	G	C	C	33	33	HEATR6	C	3	3
TP53	7157	broad.mit.edu	36	17	7517839	7517839	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7517839C>T	uc002gim.2	-	c.824G>A	c.(823-825)TGT>TAT	p.C275Y	TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.C275Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C143Y|TP53_uc010cng.1_Missense_Mutation_p.C143Y|TP53_uc002gii.1_Missense_Mutation_p.C143Y|TP53_uc010cnh.1_Missense_Mutation_p.C275Y|TP53_uc010cni.1_Missense_Mutation_p.C275Y|TP53_uc002gij.2_Missense_Mutation_p.C275Y	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	275	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		C -> S (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in 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.C275Y(44)|p.C275F(31)|p.0?(6)|p.C275S(2)|p.C275fs*20(1)|p.?(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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.C275Y(GI1-Tumor)|p.C275F(CHAGOK1-Tumor)|p.V274fs(SCC9-Tumor)|p.C275F(JHOM2B-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.516667	89.820301	89.834581	31	29	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7517839	7517839	16923	17	C	T	T	17	17	TP53	T	2	2
TP53	7157	broad.mit.edu	36	17	7518335	7518335	+	Splice_Site_SNP	SNP	T	C	C			TCGA-27-1838-01	TCGA-27-1838-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7518335T>C	uc002gim.2	-	c.673_splice	c.e7-1	p.V225_splice	TP53_uc002gig.1_Splice_Site_SNP_p.V225_splice|TP53_uc002gih.1_Splice_Site_SNP_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_SNP_p.V93_splice|TP53_uc010cng.1_Splice_Site_SNP_p.V93_splice|TP53_uc002gii.1_Splice_Site_SNP_p.V93_splice|TP53_uc010cnh.1_Splice_Site_SNP_p.V225_splice|TP53_uc010cni.1_Splice_Site_SNP_p.V225_splice|TP53_uc002gij.2_Splice_Site_SNP_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron	NM_001126112	NP_001119584			tumor protein p53 isoform a						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.?(20)|p.0?(6)|p.V225fs*24(1)|p.E224_V225insXX(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	(MHHES1-Tumor)|(TF1-Tumor)|(NCIH1092-Tumor)|(HCC1599-Tumor)|(NCIH209-Tumor)|(OCIM1-Tumor)|(KYSE30-Tumor)|(NCIH1650-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.351852	61.513389	62.556682	19	35	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Splice_Site_SNP	SNP	7518335	7518335	16923	17	T	C	C	53	53	TP53	C	5	4
DSG4	147409	broad.mit.edu	36	18	27247482	27247482	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:27247482G>A	uc002kwr.1	+	c.3106G>A	c.(3106-3108)GTT>ATT	p.V1036I	DSG4_uc002kwq.1_Missense_Mutation_p.V1017I	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2	1017	Cytoplasmic (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8														0.689922	291.419892	295.567027	89	40	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		Missense_Mutation	SNP	27247482	27247482	4963	18	G	A	A	40	40	DSG4	A	1	1
ZNF17	7565	broad.mit.edu	36	19	62623195	62623195	+	Missense_Mutation	SNP	A	G	G			TCGA-27-1838-01	TCGA-27-1838-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62623195A>G	uc002qop.1	+	c.529A>G	c.(529-531)AGG>GGG	p.R177G	ZNF17_uc002qoo.1_Missense_Mutation_p.R175G	NM_006959	NP_008890	P17021	ZNF17_HUMAN	zinc finger protein 17	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)				Melanoma(149;1637 1853 29914 42869 44988)								0.384106	174.710393	176.48905	58	93	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	Missense_Mutation	SNP	62623195	62623195	18334	19	A	G	G	7	7	ZNF17	G	4	4
FBN3	84467	broad.mit.edu	36	19	8097373	8097373	+	Missense_Mutation	SNP	G	C	C			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8097373G>C	uc002mjf.1	-	c.2533C>G	c.(2533-2535)CCC>GCC	p.P845A		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	845	TB 4.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.380952	49.989081	50.511194	16	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8097373	8097373	5940	19	G	C	C	43	43	FBN3	C	3	3
FCRL5	83416	broad.mit.edu	36	1	155756952	155756952	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:155756952G>A	uc001fqu.1	-	c.2525C>T	c.(2524-2526)GCG>GTG	p.A842V	FCRL5_uc009wsm.1_Missense_Mutation_p.A842V	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	842	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)												0.555556	31.151458	31.199803	10	8	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	155756952	155756952	6035	1	G	A	A	38	38	FCRL5	A	1	1
SPTA1	6708	broad.mit.edu	36	1	156881637	156881637	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156881637G>A	uc001fst.1	-	c.4159C>T	c.(4159-4161)CGC>TGC	p.R1387C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1387	Spectrin 13.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.351351	325.671319	332.162472	117	216	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	156881637	156881637	15630	1	G	A	A	40	40	SPTA1	A	1	1
OR2AK2	391191	broad.mit.edu	36	1	246196195	246196195	+	Silent	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246196195G>A	uc001idu.1	+	c.939G>A	c.(937-939)ACG>ACA	p.T313T	OR2L13_uc001ids.1_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	313	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)					Melanoma(45;390 1181 23848 28461 41504)								0.387755	177.646071	179.267334	57	90	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		Silent	SNP	246196195	246196195	11392	1	G	A	A	39	39	OR2AK2	A	1	1
TP53INP2	58476	broad.mit.edu	36	20	32761741	32761741	+	Missense_Mutation	SNP	A	C	C			TCGA-27-1838-01	TCGA-27-1838-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:32761741A>C	uc002xau.1	+	c.632A>C	c.(631-633)TAC>TCC	p.Y211S		NM_021202	NP_067025	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	211						nucleus					0														0.363636	7.381721	7.567356	4	7	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32761741	32761741	16931	20	A	C	C	14	14	TP53INP2	C	4	4
PTPRT	11122	broad.mit.edu	36	20	40818534	40818534	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:40818534C>T	uc010ggj.1	-	c.841G>A	c.(841-843)GCG>ACG	p.A281T	PTPRT_uc002xkg.1_Missense_Mutation_p.A281T	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	281	Extracellular (Potential).|Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.432836	80.94722	81.213096	29	38	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40818534	40818534	13270	20	C	T	T	27	27	PTPRT	T	1	1
ANGPT4	51378	broad.mit.edu	36	20	818858	818858	+	Nonsense_Mutation	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:818858G>A	uc002wei.1	-	c.463C>T	c.(463-465)CAG>TAG	p.Q155*		NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4	155	Potential.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2						Pancreas(181;481 2077 3259 31286 49856)								0.365854	81.086431	82.39986	30	52	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	818858	818858	615	20	G	A	A	45	45	ANGPT4	A	5	2
IL17RA	23765	broad.mit.edu	36	22	15969845	15969845	+	Missense_Mutation	SNP	T	G	G			TCGA-27-1838-01	TCGA-27-1838-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:15969845T>G	uc002zly.1	+	c.1736T>G	c.(1735-1737)GTC>GGC	p.V579G	IL17RA_uc010gqt.1_Missense_Mutation_p.V527G	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	579	Cytoplasmic (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)												0.210526	8.492825	9.963534	4	15	TT		KEEP	---	---	---	---	capture		Colorectal(9;0.241)	Missense_Mutation	SNP	15969845	15969845	7940	22	T	G	G	58	58	IL17RA	G	4	4
IL1R1	3554	broad.mit.edu	36	2	102155607	102155607	+	Missense_Mutation	SNP	A	T	T			TCGA-27-1838-01	TCGA-27-1838-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:102155607A>T	uc002tbq.1	+	c.868A>T	c.(868-870)AGT>TGT	p.S290C	IL1R1_uc010fix.1_Missense_Mutation_p.S290C|IL1R1_uc002tbp.1_Missense_Mutation_p.S290C|IL1R1_uc002tbr.1_Missense_Mutation_p.S290C	NM_000877	NP_000868	P14778	IL1R1_HUMAN	interleukin 1 receptor, type I precursor	290	Ig-like C2-type 3.|Extracellular (Potential).				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding				0					Anakinra(DB00026)					429				0.418367	117.855017	118.425641	41	57	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102155607	102155607	7959	2	A	T	T	11	11	IL1R1	T	4	4
SLC9A4	389015	broad.mit.edu	36	2	102507988	102507988	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:102507988G>A	uc002tbz.2	+	c.1892G>A	c.(1891-1893)CGC>CAC	p.R631H		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	631	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)	1														0.468635	374.693401	374.92584	127	144	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102507988	102507988	15213	2	G	A	A	38	38	SLC9A4	A	1	1
XIRP2	129446	broad.mit.edu	36	2	167811789	167811789	+	Nonsense_Mutation	SNP	C	T	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:167811789C>T	uc002udx.1	+	c.5641C>T	c.(5641-5643)CGA>TGA	p.R1881*	XIRP2_uc010fpn.1_Intron|XIRP2_uc010fpo.1_Intron|XIRP2_uc010fpp.1_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.R1706*|XIRP2_uc010fpq.1_Nonsense_Mutation_p.R1659*|XIRP2_uc010fpr.1_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1706					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.383117	175.691531	177.535245	59	95	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	167811789	167811789	18011	2	C	T	T	31	31	XIRP2	T	5	1
RAD51AP2	729475	broad.mit.edu	36	2	17560015	17560015	+	Missense_Mutation	SNP	C	A	A			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:17560015C>A	uc002rcl.1	-	c.3149G>T	c.(3148-3150)TGG>TTG	p.W1050L	RAD51AP2_uc010exn.1_Missense_Mutation_p.W1041L	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1050										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.504587	173.915094	173.916985	55	54	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17560015	17560015	13447	2	C	A	A	21	21	RAD51AP2	A	3	3
ALLC	55821	broad.mit.edu	36	2	3705390	3705390	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:3705390G>A	uc010ewt.1	+	c.229G>A	c.(229-231)GTG>ATG	p.V77M		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	96							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)												0.263441	122.021465	131.415042	49	137	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	Missense_Mutation	SNP	3705390	3705390	537	2	G	A	A	40	40	ALLC	A	1	1
MSH6	2956	broad.mit.edu	36	2	47879591	47879591	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:47879591C>T	uc002rwd.2	+	c.965C>T	c.(964-966)GCC>GTC	p.A322V	MSH6_uc002rwc.2_Missense_Mutation_p.A322V|MSH6_uc010fbj.1_Missense_Mutation_p.A20V	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	322					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|endometrium(28)|central_nervous_system(27)|stomach(21)|haematopoietic_and_lymphoid_tissue(9)|skin(6)|urinary_tract(5)|lung(5)|ovary(3)|breast(2)|thyroid(1)	160		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)								517				0.238671	186.706718	207.320227	79	252	CC		KEEP	---	---	---	---	capture	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Missense_Mutation	SNP	47879591	47879591	10267	2	C	T	T	26	26	MSH6	T	2	2
TSGA10	80705	broad.mit.edu	36	2	99001244	99001244	+	Silent	SNP	C	T	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:99001244C>T	uc002szg.2	-	c.1923G>A	c.(1921-1923)AGG>AGA	p.R641R	TSGA10_uc002szh.2_Silent_p.R641R|TSGA10_uc002szi.2_Silent_p.R641R|TSGA10_uc010fin.1_Silent_p.R641R	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	641	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2														0.431034	152.689734	153.177789	50	66	CC		KEEP	---	---	---	---	capture			Silent	SNP	99001244	99001244	17168	2	C	T	T	22	22	TSGA10	T	2	2
FAM55C	91775	broad.mit.edu	36	3	103002842	103002842	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:103002842G>A	uc003dvn.1	+	c.167G>A	c.(166-168)GGA>GAA	p.G56E	FAM55C_uc010hpn.1_Missense_Mutation_p.G56E	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775	56						extracellular region				ovary(1)|pancreas(1)	2														0.1	22.877969	82.191899	37	333	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103002842	103002842	5808	3	G	A	A	41	41	FAM55C	A	2	2
CLSTN2	64084	broad.mit.edu	36	3	141760377	141760377	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:141760377G>A	uc003etn.1	+	c.2029G>A	c.(2029-2031)GTG>ATG	p.V677M		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	677	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GBM(45;858 913 3709 36904 37282)								0.3875	86.804614	87.692393	31	49	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141760377	141760377	3700	3	G	A	A	40	40	CLSTN2	A	1	1
FGD5	152273	broad.mit.edu	36	3	14838064	14838064	+	Missense_Mutation	SNP	G	A	A	rs17038795	by-cluster,by-frequency,by-hapmap	TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:14838064G>A	uc003bzc.1	+	c.1759G>A	c.(1759-1761)GCC>ACC	p.A587T		NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	828					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5														0.406977	95.198043	95.850707	35	51	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14838064	14838064	6073	3	G	A	A	38	38	FGD5	A	1	1
PIK3CA	5290	broad.mit.edu	36	3	180418785	180418785	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:180418785G>A	uc003fjk.1	+	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545			E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(713)|p.E545?(19)|p.E545Q(11)|p.E545D(1)|p.E545G(1)|p.E545A(1)		breast(1506)|large_intestine(749)|endometrium(244)|urinary_tract(195)|ovary(136)|skin(112)|stomach(89)|thyroid(77)|central_nervous_system(69)|lung(61)|upper_aerodigestive_tract(48)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|kidney(2)|prostate(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3437	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)					Colon(199;1504 1750 3362 26421 31210 32040)	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	p.E545K(NCIH508-Tumor)|p.E545K(L363-Tumor)|p.E545K(KYSE510-Tumor)|p.E545K(MKN1-Tumor)|p.E545K(BFTC909-Tumor)|p.E545K(NCIH460-Tumor)|p.E545K(HCC202-Tumor)|p.E545K(KPL1-Tumor)|p.E545K(NCIH596-Tumor)|p.E545K(HUH28-Tumor)|p.E545K(MDAMB361-Tumor)|p.E545K(ESS1-Tumor)|p.E545K(TE5-Tumor)|p.E545K(HSC4-Tumor)|p.E545K(RERFLCSQ1-Tumor)	621	TCGA GBM(8;5.49e-07)			0.140187	22.445397	35.827998	15	92	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Missense_Mutation	SNP	180418785	180418785	12337	3	G	A	A	45	45	PIK3CA	A	2	2
TRIM71	131405	broad.mit.edu	36	3	32907743	32907743	+	Silent	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:32907743G>A	uc003cff.1	+	c.2043G>A	c.(2041-2043)ACG>ACA	p.T681T		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	681	NHL 2.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3														0.439655	152.918209	153.284266	51	65	GG		KEEP	---	---	---	---	capture			Silent	SNP	32907743	32907743	17093	3	G	A	A	40	40	TRIM71	A	1	1
AMIGO3	386724	broad.mit.edu	36	3	49731789	49731789	+	Silent	SNP	A	G	G			TCGA-27-1838-01	TCGA-27-1838-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49731789A>G	uc003cxj.1	-	c.114T>C	c.(112-114)TGT>TGC	p.C38C	RNF123_uc003cxh.1_Intron|RNF123_uc003cxi.1_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	38	Extracellular (Potential).|LRRNT.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1												OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.381818	141.136677	142.479465	42	68	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Silent	SNP	49731789	49731789	580	3	A	G	G	14	14	AMIGO3	G	4	4
HTR1F	3355	broad.mit.edu	36	3	88122789	88122789	+	Missense_Mutation	SNP	T	A	A			TCGA-27-1838-01	TCGA-27-1838-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:88122789T>A	uc003dqr.2	+	c.200T>A	c.(199-201)GTC>GAC	p.V67D	HTR1F_uc010hok.1_Missense_Mutation_p.V67D	NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	67	Helical; Name=2; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)			Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)									0.311111	152.135923	157.854374	56	124	TT		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Missense_Mutation	SNP	88122789	88122789	7740	3	T	A	A	58	58	HTR1F	A	4	4
MYOZ2	51778	broad.mit.edu	36	4	120291580	120291580	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:120291580G>A	uc003icp.2	+	c.182G>A	c.(181-183)CGT>CAT	p.R61H		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	myozenin 2	61							protein phosphatase 2B binding				0														0.335937	118.180477	121.23105	43	85	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120291580	120291580	10491	4	G	A	A	40	40	MYOZ2	A	1	1
FSTL5	56884	broad.mit.edu	36	4	162797015	162797015	+	Missense_Mutation	SNP	C	G	G			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:162797015C>G	uc003iqh.1	-	c.809G>C	c.(808-810)TGT>TCT	p.C270S	FSTL5_uc003iqi.1_Missense_Mutation_p.C269S|FSTL5_uc010iqv.1_Missense_Mutation_p.C269S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	270	Ig-like 1.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|large_intestine(1)|central_nervous_system(1)	6	all_hematologic(180;0.24)													0.185841	57.631685	68.064199	21	92	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(41;0.179)	Missense_Mutation	SNP	162797015	162797015	6331	4	C	G	G	17	17	FSTL5	G	3	3
GABRB1	2560	broad.mit.edu	36	4	47016939	47016939	+	Missense_Mutation	SNP	G	T	T			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:47016939G>T	uc003gxh.1	+	c.500G>T	c.(499-501)AGA>ATA	p.R167I		NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	167	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.262821	101.304594	109.242637	41	115	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47016939	47016939	6417	4	G	T	T	33	33	GABRB1	T	3	3
MFSD7	84179	broad.mit.edu	36	4	666077	666077	+	Silent	SNP	G	C	C			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:666077G>C	uc003gay.1	-	c.1353C>G	c.(1351-1353)GCC>GCG	p.A451A	MFSD7_uc003gaw.1_Silent_p.A193A|MFSD7_uc003gax.1_Silent_p.A450A|MFSD7_uc003gaz.1_Silent_p.A332A|MFSD7_uc003gba.1_Silent_p.A354A|MFSD7_uc003gbb.1_Missense_Mutation_p.P373R	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	451					transmembrane transport	integral to membrane					0														0.307692	10.194953	10.623656	4	9	GG		KEEP	---	---	---	---	capture			Silent	SNP	666077	666077	9927	4	G	C	C	39	39	MFSD7	C	3	3
HPSE	10855	broad.mit.edu	36	4	84435647	84435647	+	Missense_Mutation	SNP	C	G	G			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:84435647C>G	uc003hoj.2	-	c.1506G>C	c.(1504-1506)ATG>ATC	p.M502I	HPSE_uc010ika.1_Missense_Mutation_p.M444I|HPSE_uc003hok.2_Missense_Mutation_p.M502I	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	heparanase	502					carbohydrate metabolic process|proteoglycan metabolic process	extracellular region|lysosomal membrane	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)			Heparin(DB01109)									0.141104	43.412217	63.670016	23	140	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(81;0.141)	Missense_Mutation	SNP	84435647	84435647	7636	4	C	G	G	21	21	HPSE	G	3	3
PCDHA12	56137	broad.mit.edu	36	5	140235442	140235442	+	Silent	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140235442G>A	uc003lic.1	+	c.201G>A	c.(199-201)GCG>GCA	p.A67A	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhq.1_Intron|PCDHA8_uc003lhs.1_Intron|PCDHA9_uc003lhu.1_Intron|PCDHA10_uc003lhx.1_Intron|PCDHA10_uc003lhw.1_Intron|PCDHA11_uc003lia.1_Intron|PCDHA12_uc003lib.1_Silent_p.A67A	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	67	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0						Pancreas(113;759 1672 13322 24104 50104)								0.392344	225.892905	228.015573	82	127	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140235442	140235442	11942	5	G	A	A	40	40	PCDHA12	A	1	1
SH3RF2	153769	broad.mit.edu	36	5	145373726	145373726	+	Missense_Mutation	SNP	T	G	G			TCGA-27-1838-01	TCGA-27-1838-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:145373726T>G	uc003lnt.1	+	c.968T>G	c.(967-969)ATC>AGC	p.I323S		NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	323							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)	1														0.403785	408.646871	411.207081	128	189	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	145373726	145373726	14751	5	T	G	G	50	50	SH3RF2	G	4	4
OSMR	9180	broad.mit.edu	36	5	38940320	38940320	+	Missense_Mutation	SNP	T	A	A			TCGA-27-1838-01	TCGA-27-1838-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:38940320T>A	uc003jln.1	+	c.1243T>A	c.(1243-1245)TGG>AGG	p.W415R		NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor	415	WSXWS motif.|Fibronectin type-III 1.|Extracellular (Potential).				cell proliferation|positive regulation of acute inflammatory response|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_lung(31;0.000365)													0.273292	124.553306	131.995031	44	117	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38940320	38940320	11703	5	T	A	A	51	51	OSMR	A	4	4
SEC63	11231	broad.mit.edu	36	6	108357352	108357352	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:108357352G>A	uc003psc.2	-	c.184C>T	c.(184-186)CGG>TGG	p.R62W		NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	62	Cytoplasmic (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)												0.401099	221.440618	222.996793	73	109	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	Missense_Mutation	SNP	108357352	108357352	14491	6	G	A	A	40	40	SEC63	A	1	1
MYB	4602	broad.mit.edu	36	6	135559803	135559803	+	Silent	SNP	A	T	T			TCGA-27-1838-01	TCGA-27-1838-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:135559803A>T	uc003qfh.1	+	c.1215A>T	c.(1213-1215)TCA>TCT	p.S405S	MYB_uc003qfb.1_Intron|MYB_uc003qfc.1_Intron|MYB_uc003qfd.1_Intron|MYB_uc003qfe.1_Intron|MYB_uc003qff.1_Intron|MYB_uc003qfg.1_Intron|MYB_uc003qfi.1_Silent_p.S389S|MYB_uc003qfj.1_Intron|MYB_uc003qfl.1_Intron|MYB_uc010kgi.1_Intron|MYB_uc003qfk.1_Intron|MYB_uc003qfm.1_Non-coding_Transcript|MYB_uc003qfn.1_Intron|MYB_uc010kgj.1_Intron|MYB_uc003qfo.1_Intron|MYB_uc003qfp.1_Non-coding_Transcript|MYB_uc003qfq.1_Silent_p.S402S|MYB_uc003qfr.1_Intron|MYB_uc003qfv.1_Intron|MYB_uc003qfs.1_Intron|MYB_uc003qft.1_Intron|MYB_uc003qfu.1_Intron|MYB_uc003qfw.1_Intron|MYB_uc003qfx.1_Intron|MYB_uc003qfy.1_Non-coding_Transcript|MYB_uc003qfz.1_Non-coding_Transcript|MYB_uc003qga.1_Intron|MYB_uc003qgb.1_Intron|MYB_uc010kgk.1_Intron|MYB_uc003qgc.1_Intron|MYB_uc003qge.1_Non-coding_Transcript	NM_005375	NP_005366	P10242	MYB_HUMAN	v-myb myeloblastosis viral oncogene homolog	405	Negative regulatory domain (By similarity).				blood coagulation|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding|specific transcriptional repressor activity|transcription activator activity			lung(1)	1	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)								299				0.273109	189.377473	200.413774	65	173	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	Silent	SNP	135559803	135559803	10402	6	A	T	T	8	8	MYB	T	4	4
SLC22A2	6582	broad.mit.edu	36	6	160583352	160583352	+	Missense_Mutation	SNP	C	A	A			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:160583352C>A	uc003qte.1	-	c.1352G>T	c.(1351-1353)TGC>TTC	p.C451F	SLC22A2_uc003qtf.1_Missense_Mutation_p.C451F	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	451	Helical; (Potential).	Involved in recognition of organic cations and participates in structural changes that occur during translocation of organic cations (By similarity).			body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)												0.286325	181.64631	191.221345	67	167	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Missense_Mutation	SNP	160583352	160583352	14947	6	C	A	A	25	25	SLC22A2	A	3	3
NOTCH4	4855	broad.mit.edu	36	6	32291006	32291006	+	Missense_Mutation	SNP	T	G	G			TCGA-27-1838-01	TCGA-27-1838-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32291006T>G	uc003obb.1	-	c.1996A>C	c.(1996-1998)ACC>CCC	p.T666P		NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	666	EGF-like 17.|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			ovary(5)|lung(5)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	14										693				0.4	6.649232	6.748996	4	6	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32291006	32291006	10954	6	T	G	G	59	59	NOTCH4	G	4	4
CUL9	23113	broad.mit.edu	36	6	43272462	43272462	+	Missense_Mutation	SNP	C	A	A			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43272462C>A	uc003ouk.1	+	c.2687C>A	c.(2686-2688)ACG>AAG	p.T896K	CUL9_uc003oul.1_Missense_Mutation_p.T896K|CUL9_uc010jyk.1_Missense_Mutation_p.T48K	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	896					regulation of mitotic metaphase/anaphase transition|ubiquitin-dependent protein catabolic process	anaphase-promoting complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|central_nervous_system(1)	6														0.333333	216.192931	221.352596	70	140	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43272462	43272462	4221	6	C	A	A	19	19	CUL9	A	3	3
ABCC10	89845	broad.mit.edu	36	6	43521500	43521500	+	Silent	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43521500G>A	uc003ouy.1	+	c.3216G>A	c.(3214-3216)CCG>CCA	p.P1072P	ABCC10_uc003ouz.1_Silent_p.P1044P|ABCC10_uc010jyo.1_Silent_p.P178P	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	1072	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(5)|central_nervous_system(1)	6	all_lung(25;0.00536)													0.440476	102.204697	102.454511	37	47	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Silent	SNP	43521500	43521500	51	6	G	A	A	38	38	ABCC10	A	1	1
GCM1	8521	broad.mit.edu	36	6	53101539	53101539	+	Silent	SNP	T	C	C			TCGA-27-1838-01	TCGA-27-1838-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:53101539T>C	uc003pbp.1	-	c.735A>G	c.(733-735)GGA>GGG	p.G245G		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	245					regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1	Lung NSC(77;0.0755)													0.149254	40.507291	56.325001	20	114	TT		KEEP	---	---	---	---	capture			Silent	SNP	53101539	53101539	6563	6	T	C	C	54	54	GCM1	C	4	4
LGSN	51557	broad.mit.edu	36	6	64048319	64048319	+	Nonsense_Mutation	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:64048319G>A	uc003peh.1	-	c.1096C>T	c.(1096-1098)CGA>TGA	p.R366*	LGSN_uc003pei.1_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	366					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(1)	1					L-Glutamic Acid(DB00142)									0.432526	400.931374	402.078237	125	164	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	64048319	64048319	9085	6	G	A	A	39	39	LGSN	A	5	1
PHF3	23469	broad.mit.edu	36	6	64480126	64480126	+	Silent	SNP	A	G	G			TCGA-27-1838-01	TCGA-27-1838-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:64480126A>G	uc003pep.1	+	c.4683A>G	c.(4681-4683)AGA>AGG	p.R1561R	PHF3_uc003pen.2_Silent_p.R1473R	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1561					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				0.118519	27.901606	47.197731	16	119	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		Silent	SNP	64480126	64480126	12259	6	A	G	G	11	11	PHF3	G	4	4
RELN	5649	broad.mit.edu	36	7	103155858	103155858	+	Missense_Mutation	SNP	T	C	C			TCGA-27-1838-01	TCGA-27-1838-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:103155858T>C	uc003vca.1	-	c.689A>G	c.(688-690)CAG>CGG	p.Q230R	RELN_uc010liz.1_Missense_Mutation_p.Q230R	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	230					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14						NSCLC(146;835 1944 15585 22231 52158)								0.209125	127.579059	148.18047	55	208	TT		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Missense_Mutation	SNP	103155858	103155858	13689	7	T	C	C	55	55	RELN	C	4	4
TAS2R16	50833	broad.mit.edu	36	7	122422303	122422303	+	Missense_Mutation	SNP	G	T	T			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:122422303G>T	uc003vkl.1	-	c.622C>A	c.(622-624)CAA>AAA	p.Q208K		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	208	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|integral to membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)	1														0.202055	139.948733	164.038528	59	233	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122422303	122422303	16091	7	G	T	T	48	48	TAS2R16	T	3	3
TRPV6	55503	broad.mit.edu	36	7	142285854	142285854	+	Missense_Mutation	SNP	T	C	C			TCGA-27-1838-01	TCGA-27-1838-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142285854T>C	uc003wbx.1	-	c.176A>G	c.(175-177)CAG>CGG	p.Q59R	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	59	ANK 1.|Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(1)	1	Melanoma(164;0.059)													0.101408	33.124741	89.407841	36	319	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142285854	142285854	17151	7	T	C	C	55	55	TRPV6	C	4	4
DGKB	1607	broad.mit.edu	36	7	14700302	14700302	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:14700302C>T	uc003ssz.1	-	c.634G>A	c.(634-636)GGA>AGA	p.G212R	DGKB_uc003sta.1_Missense_Mutation_p.G212R	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	212	EF-hand 2.|2 (Potential).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)					800				0.2	14.702842	17.635003	7	28	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14700302	14700302	4645	7	C	T	T	21	21	DGKB	T	2	2
TRA2A	29896	broad.mit.edu	36	7	23519085	23519085	+	Missense_Mutation	SNP	G	C	C			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:23519085G>C	uc003swi.1	-	c.478C>G	c.(478-480)CGA>GGA	p.R160G	TRA2A_uc010kuo.1_Non-coding_Transcript	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	160	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						Pancreas(121;2137 2973 46590)								0.2	117.291253	135.691393	44	176	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23519085	23519085	16977	7	G	C	C	37	37	TRA2A	C	3	3
GHRHR	2692	broad.mit.edu	36	7	30976038	30976038	+	Silent	SNP	C	A	A			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:30976038C>A	uc003tbx.1	+	c.300C>A	c.(298-300)GGC>GGA	p.G100G	GHRHR_uc003tbw.1_Silent_p.G100G|GHRHR_uc003tby.1_Silent_p.G36G|GHRHR_uc003tbz.1_De_novo_Start_OutOfFrame	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	100	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			large_intestine(1)|ovary(1)	2					Sermorelin(DB00010)									0.126214	61.87632	118.124292	52	360	CC		KEEP	---	---	---	---	capture			Silent	SNP	30976038	30976038	6641	7	C	A	A	28	28	GHRHR	A	3	3
EGFR	1956	broad.mit.edu	36	7	55189316	55189316	+	Missense_Mutation	SNP	C	A	A			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55189316C>A	uc003tqk.1	+	c.866C>A	c.(865-867)GCC>GAC	p.A289D	EGFR_uc003tqh.1_Missense_Mutation_p.A289D|EGFR_uc003tqi.1_Missense_Mutation_p.A289D|EGFR_uc003tqj.1_Missense_Mutation_p.A289D|EGFR_uc010kzg.1_Missense_Mutation_p.A244D	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	289	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.V30_R297>G(10)|p.A289D(3)		lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)				Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			8	p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.924843	2871.734424	3048.409412	886	72	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Missense_Mutation	SNP	55189316	55189316	5156	7	C	A	A	26	26	EGFR	A	3	3
PCLO	27445	broad.mit.edu	36	7	82312556	82312556	+	Silent	SNP	G	A	A			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:82312556G>A	uc003uhx.2	-	c.14013C>T	c.(14011-14013)CCC>CCT	p.P4671P	PCLO_uc003uht.1_Silent_p.P122P|PCLO_uc003uhu.1_Silent_p.P101P|PCLO_uc003uhv.2_Silent_p.P4671P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4559					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.251701	98.300838	106.536113	37	110	GG		KEEP	---	---	---	---	capture			Silent	SNP	82312556	82312556	12003	7	G	A	A	35	35	PCLO	A	2	2
ZNF655	79027	broad.mit.edu	36	7	99008866	99008866	+	Missense_Mutation	SNP	G	T	T			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99008866G>T	uc010lga.1	+	c.1304G>T	c.(1303-1305)AGA>ATA	p.R435I	ZNF655_uc003urh.1_Missense_Mutation_p.R400I|ZNF655_uc010lgc.1_Missense_Mutation_p.R435I|ZNF655_uc003urj.1_Missense_Mutation_p.R400I|ZNF655_uc003urk.1_Missense_Mutation_p.R237I|ZNF655_uc010lgd.1_Missense_Mutation_p.R237I	NM_001083956	NP_001077425	Q8N720	ZN655_HUMAN	zinc finger protein 655 isoform f	400	C2H2-type 5.				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)													0.118321	29.61816	67.146674	31	231	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99008866	99008866	18663	7	G	T	T	33	33	ZNF655	T	3	3
RGS22	26166	broad.mit.edu	36	8	101085447	101085447	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:101085447C>T	uc003yjb.1	-	c.2510G>A	c.(2509-2511)CGA>CAA	p.R837Q	RGS22_uc003yja.1_Missense_Mutation_p.R656Q|RGS22_uc003yjc.1_Missense_Mutation_p.R825Q	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	837					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|breast(1)|central_nervous_system(1)	5										790				0.316901	125.487099	129.742009	45	97	CC		KEEP	---	---	---	---	capture	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		Missense_Mutation	SNP	101085447	101085447	13779	8	C	T	T	31	31	RGS22	T	1	1
DCTN6	10671	broad.mit.edu	36	8	30160231	30160231	+	Nonstop_Mutation	SNP	A	C	C			TCGA-27-1838-01	TCGA-27-1838-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:30160231A>C	uc003xhy.1	+	c.573A>C	c.(571-573)TAA>TAC	p.*191Y		NM_006571	NP_006562	O00399	DCTN6_HUMAN	dynactin 6	191						cytoplasm	transferase activity			ovary(1)	1														0.252874	52.50432	57.33225	22	65	AA		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)	Nonstop_Mutation	SNP	30160231	30160231	4482	8	A	C	C	3	3	DCTN6	C	5	4
PLEKHA2	59339	broad.mit.edu	36	8	38945338	38945338	+	Silent	SNP	C	T	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:38945338C>T	uc003xmi.2	+	c.909C>T	c.(907-909)CAC>CAT	p.H303H		NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A	303					positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding				0		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)												0.254237	77.072282	83.489741	30	88	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)		Silent	SNP	38945338	38945338	12482	8	C	T	T	18	18	PLEKHA2	T	2	2
ANK1	286	broad.mit.edu	36	8	41662878	41662878	+	Missense_Mutation	SNP	T	A	A			TCGA-27-1838-01	TCGA-27-1838-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:41662878T>A	uc003xom.1	-	c.4462A>T	c.(4462-4464)AGT>TGT	p.S1488C	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.1_Missense_Mutation_p.S763C|ANK1_uc003xoi.1_Missense_Mutation_p.S1447C|ANK1_uc003xoj.1_Missense_Mutation_p.S1447C|ANK1_uc003xok.1_Missense_Mutation_p.S1447C|ANK1_uc003xol.1_Missense_Mutation_p.S1447C	NM_020475	NP_065208	P16157	ANK1_HUMAN	ankyrin 1 isoform 4	1447	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)|breast(1)	8	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)												0.288462	77.507028	81.680079	30	74	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		Missense_Mutation	SNP	41662878	41662878	623	8	T	A	A	54	54	ANK1	A	4	4
ZNF462	58499	broad.mit.edu	36	9	108727383	108727383	+	Missense_Mutation	SNP	C	G	G			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:108727383C>G	uc004bcz.1	+	c.1369C>G	c.(1369-1371)CAC>GAC	p.H457D	ZNF462_uc010mto.1_Missense_Mutation_p.H305D|ZNF462_uc004bda.1_Missense_Mutation_p.H305D	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	457	C2H2-type 4.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5														0.306513	256.585075	265.30839	80	181	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108727383	108727383	18519	9	C	G	G	29	29	ZNF462	G	3	3
FAM129B	64855	broad.mit.edu	36	9	129329401	129329401	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129329401C>T	uc004brh.1	-	c.208G>A	c.(208-210)GTC>ATC	p.V70I	FAM129B_uc004bri.1_Missense_Mutation_p.V57I|FAM129B_uc004brj.2_Missense_Mutation_p.V70I	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	57	PH.						protein binding				0														0.328947	68.182922	70.137296	25	51	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129329401	129329401	5634	9	C	T	T	19	19	FAM129B	T	1	1
PAEP	5047	broad.mit.edu	36	9	137593540	137593540	+	Silent	SNP	C	A	A			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:137593540C>A	uc010nbc.1	+	c.72C>A	c.(70-72)ACC>ACA	p.T24T	PAEP_uc010naw.1_Silent_p.T24T|PAEP_uc010nax.1_Silent_p.T24T|PAEP_uc010nay.1_Silent_p.T24T|PAEP_uc010naz.1_Non-coding_Transcript|PAEP_uc010nba.1_Silent_p.T24T|PAEP_uc004cge.1_Silent_p.T24T|PAEP_uc004cgd.1_Silent_p.T24T|PAEP_uc010nbb.1_Non-coding_Transcript|PAEP_uc004cgg.1_Silent_p.T24T|PAEP_uc004cgf.1_Silent_p.T24T	NM_002571	NP_002562	P09466	PAEP_HUMAN	glycodelin precursor	24					multicellular organismal development	extracellular region	binding|transporter activity				0														0.384615	14.671608	14.823468	5	8	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	Silent	SNP	137593540	137593540	11798	9	C	A	A	21	21	PAEP	A	3	3
SMARCA2	6595	broad.mit.edu	36	9	2019232	2019232	+	Missense_Mutation	SNP	G	C	C			TCGA-27-1838-01	TCGA-27-1838-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:2019232G>C	uc003zhc.1	+	c.210G>C	c.(208-210)ATG>ATC	p.M70I	SMARCA2_uc003zhd.1_Missense_Mutation_p.M70I|SMARCA2_uc010mha.1_Missense_Mutation_p.M61I	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	70					chromatin remodeling|negative regulation of gene-specific transcription from RNA polymerase II promoter|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription, DNA-dependent	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein binding|transcription activator activity|transcription coactivator activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)												0.421687	119.908604	120.353381	35	48	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0475)	Missense_Mutation	SNP	2019232	2019232	15267	9	G	C	C	46	46	SMARCA2	C	3	3
IL33	90865	broad.mit.edu	36	9	6241142	6241142	+	Missense_Mutation	SNP	A	G	G			TCGA-27-1838-01	TCGA-27-1838-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:6241142A>G	uc003zjt.2	+	c.220A>G	c.(220-222)AGA>GGA	p.R74G	IL33_uc003zju.1_Missense_Mutation_p.R74G	NM_033439	NP_254274	O95760	IL33_HUMAN	interleukin 33	74					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity				0		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)												0.272727	118.865646	125.52159	39	104	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)	Missense_Mutation	SNP	6241142	6241142	7994	9	A	G	G	15	15	IL33	G	4	4
ZNF484	83744	broad.mit.edu	36	9	94650334	94650334	+	Nonsense_Mutation	SNP	C	A	A			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:94650334C>A	uc004asu.1	-	c.556G>T	c.(556-558)GAG>TAG	p.E186*	ANKRD19_uc004asr.2_Intron|ZNF484_uc010mrb.1_Nonsense_Mutation_p.E150*|ZNF484_uc004asv.1_Nonsense_Mutation_p.E150*	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.296117	307.202718	322.514295	122	290	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	94650334	94650334	18531	9	C	A	A	30	30	ZNF484	A	5	3
KIAA1210	57481	broad.mit.edu	36	X	118104609	118104609	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:118104609C>T	uc004era.2	-	c.4612G>A	c.(4612-4614)GTT>ATT	p.V1538I		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1538										ovary(4)|skin(1)	5														0.28013	227.002169	240.295959	86	221	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118104609	118104609	8522	23	C	T	T	19	19	KIAA1210	T	1	1
DCAF12L1	139170	broad.mit.edu	36	X	125513985	125513985	+	Silent	SNP	C	T	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:125513985C>T	uc004eul.1	-	c.288G>A	c.(286-288)ACG>ACA	p.T96T	DCAF12L1_uc010nqz.1_Silent_p.T96T	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	WD repeat domain 40B	96										skin(3)	3														0.259887	123.483636	132.714862	46	131	CC		KEEP	---	---	---	---	capture			Silent	SNP	125513985	125513985	4435	23	C	T	T	23	23	DCAF12L1	T	1	1
MXRA5	25878	broad.mit.edu	36	X	3245331	3245331	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1838-01	TCGA-27-1838-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:3245331C>T	uc004crg.2	-	c.6391G>A	c.(6391-6393)GCG>ACG	p.A2131T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican	2131	Ig-like C2-type 5.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.272727	31.187073	33.23168	12	32	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3245331	3245331	10397	23	C	T	T	27	27	MXRA5	T	1	1
PAGE2B	389860	broad.mit.edu	36	X	55119822	55119822	+	Silent	SNP	A	C	C			TCGA-27-1838-01	TCGA-27-1838-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:55119822A>C	uc004due.1	+	c.180A>C	c.(178-180)GCA>GCC	p.A60A		NM_001015038	NP_001015038	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	60											0														0.35	7.530782	7.965987	7	13	AA		KEEP	---	---	---	---	capture			Silent	SNP	55119822	55119822	11807	23	A	C	C	6	6	PAGE2B	C	4	4
FOXD4L3	286380	broad.mit.edu	36	9	70107824	70107824	+	Frame_Shift_Del	DEL	C	-	-			TCGA-27-1838-01	TCGA-27-1838-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:70107824_70107824delC	uc004agm.1	+	c.137_137delC	c.(136-138)GCGfs	p.A46fs		NM_199135	NP_954586	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	46					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)										0.36			5	9				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	70107824	70107824	6244	9	C	-	-	27	27	FOXD4L3	-	5	5
SLC9A7	84679	broad.mit.edu	36	X	46375989	46375991	+	In_Frame_Del	DEL	GTT	-	-			TCGA-27-1838-01	TCGA-27-1838-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:46375989_46375991delGTT	uc004dgu.1	-	c.1711_1713delAAC	c.(1711-1713)AACdel	p.N571del		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7	571					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			ovary(2)	2						Pancreas(118;454 1696 1930 13865 39976)								0.36			27	49				---	---	---	---	capture_indel			In_Frame_Del	DEL	46375989	46375991	15216	23	GTT	-	-	40	40	SLC9A7	-	5	5
