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
ADARB2	105	broad.mit.edu	36	10	1274215	1274215	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:1274215G>A	uc009xhq.1	-	c.1340C>T	c.(1339-1341)ACG>ATG	p.T447M		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	447	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				0.7	22.128479	22.486075	7	3	GG		KEEP	---	---	---	---	capture		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	Missense_Mutation	SNP	1274215	1274215	284	10	G	A	A	40	40	ADARB2	A	1	1
PTEN	5728	broad.mit.edu	36	10	89701973	89701973	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89701973C>T	uc001kfb.1	+	c.611C>T	c.(610-612)CCA>CTA	p.P204L		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	204	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.G165fs*9(3)|p.Y27_N212>Y(2)|p.P204fs*17(1)|p.G165_*404del(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.P204L(GCT-Tumor)	264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.534314	349.478884	349.686841	109	95	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	Missense_Mutation	SNP	89701973	89701973	13192	10	C	T	T	21	21	PTEN	T	2	2
METTL12	751071	broad.mit.edu	36	11	62190700	62190700	+	Silent	SNP	T	C	C			TCGA-06-5418-01	TCGA-06-5418-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62190700T>C	uc001nug.1	+	c.324T>C	c.(322-324)TTT>TTC	p.F108F	C11orf48_uc001nue.1_Intron|C11orf48_uc001nuf.1_Intron|METTL12_uc001nuh.2_Missense_Mutation_p.F150S	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN	hypothetical protein LOC751071	108						mitochondrion	methyltransferase activity				0														0.335821	145.233357	148.429118	45	89	TT		KEEP	---	---	---	---	capture			Silent	SNP	62190700	62190700	9886	11	T	C	C	64	64	METTL12	C	4	4
OR6C1	390321	broad.mit.edu	36	12	54001056	54001056	+	Silent	SNP	C	A	A			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54001056C>A	uc001sgu.1	+	c.406C>A	c.(406-408)CGA>AGA	p.R136R		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2														0.369231	72.683368	73.660148	24	41	CC		KEEP	---	---	---	---	capture			Silent	SNP	54001056	54001056	11600	12	C	A	A	31	31	OR6C1	A	3	3
ANKRD52	283373	broad.mit.edu	36	12	54932105	54932105	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5418-01	TCGA-06-5418-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54932105T>C	uc001skm.2	-	c.1553A>G	c.(1552-1554)GAC>GGC	p.D518G		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	518	ANK 15.						protein binding			ovary(2)	2														0.109756	6.4182	18.784371	9	73	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54932105	54932105	686	12	T	C	C	58	58	ANKRD52	C	4	4
AGAP2	116986	broad.mit.edu	36	12	56407255	56407255	+	Silent	SNP	G	A	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56407255G>A	uc001spq.1	-	c.3105C>T	c.(3103-3105)CGC>CGT	p.R1035R	AGAP2_uc001spo.1_5'Flank|AGAP2_uc001spp.1_Silent_p.R1034R|AGAP2_uc001spr.1_Silent_p.R679R	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	1035	Arf-GAP.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5										257		OREG0021951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.333333	17.468579	17.960519	7	14	GG		KEEP	---	---	---	---	capture			Silent	SNP	56407255	56407255	370	12	G	A	A	38	38	AGAP2	A	1	1
AICDA	57379	broad.mit.edu	36	12	8649273	8649273	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:8649273C>T	uc001qur.1	-	c.232G>A	c.(232-234)GTC>ATC	p.V78I	AICDA_uc001qup.1_Missense_Mutation_p.V73I|AICDA_uc001quq.1_Missense_Mutation_p.V73I|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	78					B cell differentiation|mRNA processing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			pancreas(1)	1	Lung SC(5;0.184)					GBM(62;896 1067 5527 26594 30137)								0.329787	72.549774	74.986538	31	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8649273	8649273	425	12	C	T	T	19	19	AICDA	T	1	1
ZFHX3	463	broad.mit.edu	36	16	71389532	71389532	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:71389532G>A	uc002fck.1	-	c.4550C>T	c.(4549-4551)TCG>TTG	p.S1517L	ZFHX3_uc002fcl.1_Missense_Mutation_p.S603L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	AT-binding transcription factor 1	1517					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription repressor activity|transcription repressor activity|zinc ion binding			ovary(2)	2		Ovarian(137;0.13)												0.602484	298.491415	299.969037	97	64	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71389532	71389532	18222	16	G	A	A	37	37	ZFHX3	A	1	1
WNK4	65266	broad.mit.edu	36	17	38199144	38199144	+	Silent	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38199144C>T	uc002ibj.1	+	c.2166C>T	c.(2164-2166)AAC>AAT	p.N722N	WNK4_uc002ibk.1_Silent_p.N494N	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	722					intracellular protein kinase cascade|protein phosphorylation	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)				Esophageal Squamous(6;201 374 4964 23855 42828)				263				0.246914	47.062514	51.783708	20	61	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.0749)	Silent	SNP	38199144	38199144	17954	17	C	T	T	19	19	WNK4	T	1	1
GEMIN4	50628	broad.mit.edu	36	17	596011	596011	+	Missense_Mutation	SNP	G	T	T			TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:596011G>T	uc002frs.1	-	c.2022C>A	c.(2020-2022)TTC>TTA	p.F674L		NM_015721	NP_056536	P57678	GEMI4_HUMAN	gemin 4	674					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			ovary(2)|kidney(1)|skin(1)	4		Myeloproliferative disorder(207;0.204)												0.30303	51.570767	53.858835	20	46	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	Missense_Mutation	SNP	596011	596011	6598	17	G	T	T	45	45	GEMIN4	T	3	3
DNAH2	146754	broad.mit.edu	36	17	7643251	7643251	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7643251G>A	uc002giu.1	+	c.8665G>A	c.(8665-8667)GTG>ATG	p.V2889M		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2889	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.341463	74.481235	76.299493	28	54	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7643251	7643251	4785	17	G	A	A	40	40	DNAH2	A	1	1
TUBB4	10382	broad.mit.edu	36	19	6446886	6446886	+	Silent	SNP	G	A	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6446886G>A	uc002mfg.1	-	c.624C>T	c.(622-624)TAC>TAT	p.Y208Y	TUBB4_uc002mff.1_Silent_p.Y136Y	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	208					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)												0.339806	178.596941	183.265142	70	136	GG		KEEP	---	---	---	---	capture		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	Silent	SNP	6446886	6446886	17313	19	G	A	A	40	40	TUBB4	A	1	1
TCHH	7062	broad.mit.edu	36	1	150347869	150347869	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150347869C>T	uc001ezp.2	-	c.4448G>A	c.(4447-4449)CGT>CAT	p.R1483H	TCHH_uc009wne.1_Missense_Mutation_p.R1483H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1483	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.314815	171.352276	177.926846	68	148	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150347869	150347869	16226	1	C	T	T	19	19	TCHH	T	1	1
TCHH	7062	broad.mit.edu	36	1	150349000	150349000	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150349000C>T	uc001ezp.2	-	c.3317G>A	c.(3316-3318)CGG>CAG	p.R1106Q	TCHH_uc009wne.1_Missense_Mutation_p.R1106Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1106	10 X 30 AA tandem repeats.|4-7.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.274611	130.368406	139.154499	53	140	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150349000	150349000	16226	1	C	T	T	23	23	TCHH	T	1	1
F5	2153	broad.mit.edu	36	1	167776235	167776235	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:167776235G>A	uc001ggg.1	-	c.4717C>T	c.(4717-4719)CGC>TGC	p.R1573C		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1573	B.	Cleavage; by thrombin.			cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)									0.359375	130.311553	132.541409	46	82	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	167776235	167776235	5542	1	G	A	A	39	39	F5	A	1	1
IPO9	55705	broad.mit.edu	36	1	200090620	200090620	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200090620C>T	uc001gwz.1	+	c.857C>T	c.(856-858)TCC>TTC	p.S286F		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	286					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2														0.450704	188.459492	188.762836	64	78	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	200090620	200090620	8100	1	C	T	T	30	30	IPO9	T	2	2
DMBX1	127343	broad.mit.edu	36	1	46749351	46749351	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:46749351G>A	uc001cpx.1	+	c.506G>A	c.(505-507)CGT>CAT	p.R169H	DMBX1_uc001cpw.1_Missense_Mutation_p.R164H	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1 isoform b	169					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.4	197.607193	199.225061	74	111	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46749351	46749351	4758	1	G	A	A	40	40	DMBX1	A	1	1
GPR153	387509	broad.mit.edu	36	1	6234032	6234032	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6234032C>T	uc001amp.1	-	c.932G>A	c.(931-933)CGG>CAG	p.R311Q	GPR153_uc001amo.1_5'Flank	NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	311	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)												0.36	156.715344	159.300676	54	96	CC		KEEP	---	---	---	---	capture		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	Missense_Mutation	SNP	6234032	6234032	6934	1	C	T	T	23	23	GPR153	T	1	1
KIF16B	55614	broad.mit.edu	36	20	16285074	16285074	+	Silent	SNP	G	A	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:16285074G>A	uc002wpg.1	-	c.3522C>T	c.(3520-3522)GGC>GGT	p.G1174G	KIF16B_uc002wpe.1_Silent_p.G556G|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.1_Silent_p.G1123G	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	1174					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7														0.397727	93.337545	94.131964	35	53	GG		KEEP	---	---	---	---	capture			Silent	SNP	16285074	16285074	8589	20	G	A	A	38	38	KIF16B	A	1	1
ITGB2	3689	broad.mit.edu	36	21	45136275	45136275	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:45136275G>A	uc002zgd.1	-	c.1289C>T	c.(1288-1290)GCG>GTG	p.A430V	ITGB2_uc002zge.1_Missense_Mutation_p.A430V|ITGB2_uc002zgf.2_Missense_Mutation_p.A430V|ITGB2_uc010gpw.1_Missense_Mutation_p.A373V|ITGB2_uc002zgg.1_Missense_Mutation_p.A430V	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	430	Extracellular (Potential).				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(3)|central_nervous_system(3)|breast(2)	8					Simvastatin(DB00641)									0.47619	82.134566	82.166193	30	33	GG		KEEP	---	---	---	---	capture		Colorectal(79;0.0669)	Missense_Mutation	SNP	45136275	45136275	8198	21	G	A	A	38	38	ITGB2	A	1	1
PCBP3	54039	broad.mit.edu	36	21	46179602	46179602	+	Silent	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46179602C>T	uc010gqb.1	+	c.864C>T	c.(862-864)GAC>GAT	p.D288D	PCBP3_uc002zhp.1_Silent_p.D268D|PCBP3_uc002zhq.1_Silent_p.D256D|PCBP3_uc002zhr.1_Silent_p.D287D|PCBP3_uc002zhs.1_Silent_p.D262D|PCBP3_uc002zht.1_Silent_p.D278D	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	288					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding				0	all_hematologic(128;0.24)													0.222222	21.826586	25.020898	10	35	CC		KEEP	---	---	---	---	capture		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	Silent	SNP	46179602	46179602	11922	21	C	T	T	19	19	PCBP3	T	1	1
GTDC1	79712	broad.mit.edu	36	2	144616073	144616073	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:144616073C>T	uc002tvp.1	-	c.367G>A	c.(367-369)GTA>ATA	p.V123I	GTDC1_uc002tvq.1_Missense_Mutation_p.V123I|GTDC1_uc002tvr.1_Missense_Mutation_p.V123I|GTDC1_uc010fnn.1_Missense_Mutation_p.V123I|GTDC1_uc002tvs.1_Missense_Mutation_p.V91I|GTDC1_uc010fno.1_5'UTR|GTDC1_uc002tvt.1_Missense_Mutation_p.V123I|GTDC1_uc002tvo.1_Missense_Mutation_p.V123I	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	123					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1														0.292308	42.800244	45.311922	19	46	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0914)	Missense_Mutation	SNP	144616073	144616073	7131	2	C	T	T	17	17	GTDC1	T	2	2
ABCG5	64240	broad.mit.edu	36	2	43919296	43919296	+	Silent	SNP	G	A	A	rs72542428	unknown	TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:43919296G>A	uc002rtn.1	-	c.27C>T	c.(25-27)CCC>CCT	p.P9P	ABCG5_uc002rto.1_5'UTR|ABCG5_uc002rtp.1_5'UTR|ABCG8_uc002rtq.1_5'Flank	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	9	Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|intestinal cholesterol absorption|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.321429	49.531567	51.116942	18	38	GG		KEEP	---	---	---	---	capture			Silent	SNP	43919296	43919296	72	2	G	A	A	39	39	ABCG5	A	1	1
SPTBN1	6711	broad.mit.edu	36	2	54710223	54710223	+	Silent	SNP	G	A	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:54710223G>A	uc002rxu.1	+	c.2448G>A	c.(2446-2448)GAG>GAA	p.E816E	SPTBN1_uc002rxv.1_Silent_p.E816E|SPTBN1_uc002rxx.1_Silent_p.E803E	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	816	Spectrin 5.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(2)|breast(2)|central_nervous_system(2)	6														0.387755	157.929797	159.556144	57	90	GG		KEEP	---	---	---	---	capture	Lung(47;0.24)		Silent	SNP	54710223	54710223	15633	2	G	A	A	36	36	SPTBN1	A	2	2
VHL	7428	broad.mit.edu	36	3	10158867	10158867	+	Silent	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:10158867C>T	uc003bvc.1	+	c.336C>T	c.(334-336)TAC>TAT	p.Y112Y	VHL_uc003bvd.1_Silent_p.Y112Y	NM_000551	NP_000542	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor isoform 1	112	Involved in binding to CCT complex.		Y -> H (in VHLD; type IIA).|Y -> N (in VHLD).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.?(1)|p.Y112*(1)|p.I109_R113del(1)|p.S111fs*45(1)|p.R113fs*46(1)|p.Y112fs*1(1)|p.S111_Y112del(1)		kidney(1268)|soft_tissue(24)|adrenal_gland(14)|large_intestine(13)|pancreas(5)|endometrium(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|thyroid(1)|pleura(1)|paratesticular_tissues(1)	1338								1		45				0.391304	26.071487	26.308869	9	14	CC		KEEP	---	---	---	---	capture		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	Silent	SNP	10158867	10158867	17729	3	C	T	T	18	18	VHL	T	2	2
FSTL1	11167	broad.mit.edu	36	3	121606422	121606422	+	Silent	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:121606422C>T	uc003eds.1	-	c.549G>A	c.(547-549)ACG>ACA	p.T183T		NM_007085	NP_009016	Q12841	FSTL1_HUMAN	follistatin-like 1 precursor	183					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)	1														0.371287	208.468432	211.410092	75	127	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.189)	Silent	SNP	121606422	121606422	6328	3	C	T	T	19	19	FSTL1	T	1	1
IGSF10	285313	broad.mit.edu	36	3	152648739	152648739	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:152648739C>T	uc003ezb.1	-	c.1720G>A	c.(1720-1722)GAA>AAA	p.E574K		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	574	Ig-like C2-type 2.				cell differentiation|multicellular organismal development|ossification	extracellular region				ovary(4)|central_nervous_system(1)	5														0.330189	188.479176	193.896751	70	142	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Missense_Mutation	SNP	152648739	152648739	7898	3	C	T	T	31	31	IGSF10	T	1	1
CAMK1	8536	broad.mit.edu	36	3	9774491	9774491	+	Nonsense_Mutation	SNP	T	A	A			TCGA-06-5418-01	TCGA-06-5418-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:9774491T>A	uc003bst.1	-	c.952A>T	c.(952-954)AAA>TAA	p.K318*	OGG1_uc003bsl.1_Intron|OGG1_uc003bsk.1_Intron|OGG1_uc003bsn.1_Intron|OGG1_uc003bso.1_Intron|OGG1_uc003bsm.1_Intron|CAMK1_uc003bsu.1_Non-coding_Transcript|CAMK1_uc003bss.2_Nonsense_Mutation_p.K92*	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	318	Nuclear export signal (By similarity).				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|protein phosphorylation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|skin(1)	2	Medulloblastoma(99;0.227)									25				0.305556	72.430048	76.075818	33	75	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	Nonsense_Mutation	SNP	9774491	9774491	2713	3	T	A	A	62	62	CAMK1	A	5	4
OR5K1	26339	broad.mit.edu	36	3	99671622	99671622	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99671622C>T	uc003dsm.1	+	c.512C>T	c.(511-513)TCG>TTG	p.S171L		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K,	171	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1														0.313636	366.512125	380.101065	138	302	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99671622	99671622	11576	3	C	T	T	31	31	OR5K1	T	1	1
TRPC3	7222	broad.mit.edu	36	4	123052554	123052554	+	Missense_Mutation	SNP	G	C	C			TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:123052554G>C	uc003ieg.1	-	c.1486C>G	c.(1486-1488)CCC>GCC	p.P496A	TRPC3_uc010inr.1_Missense_Mutation_p.P368A|TRPC3_uc003ief.1_Missense_Mutation_p.P423A	NM_003305	NP_003296	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	411	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2														0.361446	202.705433	205.488842	60	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123052554	123052554	17130	4	G	C	C	41	41	TRPC3	C	3	3
TBC1D9	23158	broad.mit.edu	36	4	141820404	141820404	+	Missense_Mutation	SNP	T	A	A			TCGA-06-5418-01	TCGA-06-5418-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:141820404T>A	uc010ioj.1	-	c.404A>T	c.(403-405)GAT>GTT	p.D135V		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	135						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)												0.482759	82.994877	83.009939	28	30	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141820404	141820404	16153	4	T	A	A	50	50	TBC1D9	A	4	4
TMEM156	80008	broad.mit.edu	36	4	38676772	38676772	+	Missense_Mutation	SNP	G	A	A	rs13118782	by-hapmap	TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38676772G>A	uc003gto.1	-	c.241C>T	c.(241-243)CGT>TGT	p.R81C	TMEM156_uc010ifj.1_Missense_Mutation_p.R81C	NM_024943	NP_079219	Q8N614	TM156_HUMAN	transmembrane protein 156	81	Extracellular (Potential).					integral to membrane					0														0.345238	79.483569	81.244435	29	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38676772	38676772	16606	4	G	A	A	37	37	TMEM156	A	1	1
UGT2B7	7364	broad.mit.edu	36	4	70008582	70008582	+	Silent	SNP	G	A	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:70008582G>A	uc003heg.2	+	c.1263G>A	c.(1261-1263)TCG>TCA	p.S421S	UGT2B7_uc010ihq.1_Intron	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family,	421					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)	1														0.333333	212.971372	218.728239	78	156	GG		KEEP	---	---	---	---	capture			Silent	SNP	70008582	70008582	17520	4	G	A	A	37	37	UGT2B7	A	1	1
TERT	7015	broad.mit.edu	36	5	1313707	1313707	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1313707C>T	uc003jcb.1	-	c.2852G>A	c.(2851-2853)CGG>CAG	p.R951Q	TERT_uc003jbz.1_Missense_Mutation_p.R147Q|TERT_uc003jca.1_Missense_Mutation_p.R939Q|TERT_uc003jcc.1_Missense_Mutation_p.R888Q|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	951	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase	cytoplasm|nuclear telomere cap complex|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(6)|central_nervous_system(2)|ovary(1)|skin(1)	10	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)									563				0.278481	55.819081	59.304801	22	57	CC		KEEP	---	---	---	---	capture	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Missense_Mutation	SNP	1313707	1313707	16291	5	C	T	T	23	23	TERT	T	1	1
GABRB2	2561	broad.mit.edu	36	5	160685985	160685985	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:160685985G>A	uc003lys.1	-	c.1159C>T	c.(1159-1161)CGG>TGG	p.R387W	GABRB2_uc003lyr.1_Intron|GABRB2_uc003lyt.1_Intron|GABRB2_uc010jiu.1_Intron	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	387	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)			Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.365169	178.023363	180.870851	65	113	GG		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	160685985	160685985	6418	5	G	A	A	40	40	GABRB2	A	1	1
ZNF366	167465	broad.mit.edu	36	5	71788144	71788144	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:71788144C>T	uc003kce.1	-	c.1367G>A	c.(1366-1368)CGG>CAG	p.R456Q		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	456	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)												0.315068	243.599911	252.481474	92	200	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	Missense_Mutation	SNP	71788144	71788144	18462	5	C	T	T	23	23	ZNF366	T	1	1
PKHD1	5314	broad.mit.edu	36	6	52049067	52049067	+	Silent	SNP	G	A	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:52049067G>A	uc003pah.1	-	c.414C>T	c.(412-414)ATC>ATT	p.I138I	PKHD1_uc003pai.1_Silent_p.I138I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	138	IPT/TIG 2.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.336364	98.32543	100.938746	37	73	GG		KEEP	---	---	---	---	capture			Silent	SNP	52049067	52049067	12396	6	G	A	A	37	37	PKHD1	A	1	1
KCNQ5	56479	broad.mit.edu	36	6	73900049	73900049	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:73900049C>T	uc003pgk.1	+	c.1432C>T	c.(1432-1434)CGC>TGC	p.R478C	KCNQ5_uc010kat.1_Missense_Mutation_p.R469C	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	478					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)	6		all_epithelial(107;0.116)|Lung NSC(302;0.219)				GBM(142;1375 1859 14391 23261 44706)								0.381818	114.523267	115.870506	42	68	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Missense_Mutation	SNP	73900049	73900049	8391	6	C	T	T	27	27	KCNQ5	T	1	1
MUC17	140453	broad.mit.edu	36	7	100467541	100467541	+	Missense_Mutation	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100467541C>T	uc003uxp.1	+	c.6124C>T	c.(6124-6126)CGG>TGG	p.R2042W	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17	2042	Extracellular (Potential).|32.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.197065	190.18127	230.960086	94	383	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100467541	100467541	10368	7	C	T	T	19	19	MUC17	T	1	1
PIK3CG	5294	broad.mit.edu	36	7	106296091	106296091	+	Silent	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:106296091C>T	uc003vdv.2	+	c.849C>T	c.(847-849)GGC>GGT	p.G283G	PIK3CG_uc003vdu.1_Silent_p.G283G|PIK3CG_uc003vdw.1_Silent_p.G283G	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	283					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(8)|lung(7)|pancreas(3)|ovary(2)|skin(1)	21										292				0.167702	40.747415	57.507846	27	134	CC		KEEP	---	---	---	---	capture			Silent	SNP	106296091	106296091	12340	7	C	T	T	27	27	PIK3CG	T	1	1
AMPH	273	broad.mit.edu	36	7	38438326	38438326	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:38438326C>T	uc003tgu.1	-	c.1146G>A	c.(1144-1146)TGG>TGA	p.W382*	AMPH_uc003tgt.1_Nonsense_Mutation_p.W135*|AMPH_uc003tgv.1_Nonsense_Mutation_p.W382*|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	382					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)	4														0.227848	133.05141	149.140342	54	183	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	38438326	38438326	591	7	C	T	T	22	22	AMPH	T	5	2
ADCY1	107	broad.mit.edu	36	7	45684173	45684173	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:45684173G>A	uc003tne.2	+	c.1786G>A	c.(1786-1788)GAA>AAA	p.E596K		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	brain adenylate cyclase 1	596	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|central_nervous_system(1)	4					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)									0.227273	124.092217	140.619462	55	187	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45684173	45684173	293	7	G	A	A	37	37	ADCY1	A	1	1
POM121L12	285877	broad.mit.edu	36	7	53070900	53070900	+	Silent	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:53070900C>T	uc003tpz.1	+	c.42C>T	c.(40-42)AAC>AAT	p.N14N		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	hypothetical protein LOC285877	14											0														0.276596	29.951349	32.065426	13	34	CC		KEEP	---	---	---	---	capture			Silent	SNP	53070900	53070900	12669	7	C	T	T	20	20	POM121L12	T	2	2
FKBP6	8468	broad.mit.edu	36	7	72382171	72382171	+	Silent	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72382171C>T	uc003tya.2	+	c.348C>T	c.(346-348)TAC>TAT	p.Y116Y	FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank|FKBP6_uc010lbe.1_Non-coding_Transcript	NM_003602	NP_003593	O75344	FKBP6_HUMAN	FK506 binding protein 6 isoform a	116	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)												0.340807	201.829288	206.825238	76	147	CC		KEEP	---	---	---	---	capture			Silent	SNP	72382171	72382171	6150	7	C	T	T	19	19	FKBP6	T	1	1
ACTL7B	10880	broad.mit.edu	36	9	110656993	110656993	+	Missense_Mutation	SNP	T	C	C			TCGA-06-5418-01	TCGA-06-5418-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:110656993T>C	uc004bdi.1	-	c.1039A>G	c.(1039-1041)ATG>GTG	p.M347V		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	347						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1														0.405405	144.47905	145.339223	45	66	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110656993	110656993	202	9	T	C	C	49	49	ACTL7B	C	4	4
LAMC3	10319	broad.mit.edu	36	9	132933407	132933407	+	Silent	SNP	C	T	T			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:132933407C>T	uc004caa.1	+	c.2715C>T	c.(2713-2715)TTC>TTT	p.F905F		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	905	Laminin EGF-like 9.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)												0.428571	108.784467	109.158617	36	48	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	Silent	SNP	132933407	132933407	8939	9	C	T	T	32	32	LAMC3	T	2	2
TBC1D8B	54885	broad.mit.edu	36	X	105984124	105984124	+	Missense_Mutation	SNP	G	A	A			TCGA-06-5418-01	TCGA-06-5418-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:105984124G>A	uc004emo.1	+	c.2294G>A	c.(2293-2295)CGC>CAC	p.R765H	MORC4_uc004emp.2_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	765						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)	3														0.57732	169.099466	169.603887	56	41	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105984124	105984124	16152	23	G	A	A	38	38	TBC1D8B	A	1	1
SLC7A3	84889	broad.mit.edu	36	X	70063206	70063206	+	Missense_Mutation	SNP	C	A	A			TCGA-06-5418-01	TCGA-06-5418-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70063206C>A	uc004dyn.1	-	c.1516G>T	c.(1516-1518)GAC>TAC	p.D506Y	SLC7A3_uc004dyo.1_Missense_Mutation_p.D506Y	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	506	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)									0.3	6.819565	7.177932	3	7	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70063206	70063206	15195	23	C	A	A	32	32	SLC7A3	A	3	3
TLK1	9874	broad.mit.edu	36	2	171610955	171610956	+	Frame_Shift_Ins	INS	-	GG	GG			TCGA-06-5418-01	TCGA-06-5418-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:171610955_171610956insGG	uc002ugo.1	-	c.1206_1207insCC	c.(1204-1209)CCCTTTfs	p.P402fs	TLK1_uc002ugn.1_Frame_Shift_Ins_p.P381fs|TLK1_uc002ugp.1_Frame_Shift_Ins_p.P333fs|TLK1_uc002ugq.1_Non-coding_Transcript|TLK1_uc002ugr.1_Frame_Shift_Ins_p.P164fs	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 1	381_382					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|protein phosphorylation|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1										247				0.34			111	218				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	171610955	171610956	16473	2	-	GG	GG	3	3	TLK1	GG	5	5
ZNF618	114991	broad.mit.edu	36	9	115838429	115838429	+	Frame_Shift_Del	DEL	C	-	-			TCGA-06-5418-01	TCGA-06-5418-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:115838429_115838429delC	uc004bid.1	+	c.1197_1197delC	c.(1195-1197)ATCfs	p.I399fs	ZNF618_uc004bic.1_Frame_Shift_Del_p.I306fs|ZNF618_uc010mvb.1_5'UTR	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	399	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	115838429	115838429	18637	9	C	-	-	30	30	ZNF618	-	5	5
PCDH19	57526	broad.mit.edu	36	X	99549205	99549207	+	In_Frame_Del	DEL	CAG	-	-			TCGA-06-5418-01	TCGA-06-5418-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:99549205_99549207delCAG	uc010nmz.1	-	c.1045_1047delCTG	c.(1045-1047)CTGdel	p.L349del	PCDH19_uc004efw.2_In_Frame_Del_p.L349del|PCDH19_uc004efx.2_In_Frame_Del_p.L349del	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	349	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7														0.49			40	41				---	---	---	---	capture_indel			In_Frame_Del	DEL	99549205	99549207	11934	23	CAG	-	-	17	17	PCDH19	-	5	5
