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
TRIM8	81603	broad.mit.edu	36	10	104404431	104404431	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0826-01	TCGA-12-0826-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104404431A>G	uc001kvz.2	+	c.602A>G	c.(601-603)GAG>GGG	p.E201G		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	tripartite motif-containing 8	201	Potential.					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)										0.571429	8.803125	8.837649	4	3	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	104404431	104404431	17098	10	A	G	G	11	11	TRIM8	G	4	4
BAG3	9531	broad.mit.edu	36	10	121426473	121426473	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:121426473C>G	uc001lem.1	+	c.1417C>G	c.(1417-1419)CGA>GGA	p.R473G	BAG3_uc001lel.2_Missense_Mutation_p.R472G	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	473	BAG.				anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)										0.266667	6.893971	7.633017	4	11	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	121426473	121426473	1309	10	C	G	G	19	19	BAG3	G	3	3
SEC23IP	11196	broad.mit.edu	36	10	121675626	121675626	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:121675626C>T	uc001leu.1	+	c.2210C>T	c.(2209-2211)TCC>TTC	p.S737F	SEC23IP_uc009xzk.1_Non-coding_Transcript	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	737					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)										0.288889	14.813061	16.724326	13	32	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	121675626	121675626	14479	10	C	T	T	30	30	SEC23IP	T	2	2
KIAA1462	57608	broad.mit.edu	36	10	30356887	30356887	+	Silent	SNP	C	T	T			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:30356887C>T	uc009xle.1	-	c.2196G>A	c.(2194-2196)ACG>ACA	p.T732T	KIAA1462_uc001iuz.2_Silent_p.T594T|KIAA1462_uc001iux.2_Silent_p.T732T|KIAA1462_uc001iuy.2_Intron	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	732										ovary(4)	4														0.611111	70.455101	70.84463	22	14	CC		KEEP	---	---	---	---	capture			Silent	SNP	30356887	30356887	8543	10	C	T	T	27	27	KIAA1462	T	1	1
SPOCK2	9806	broad.mit.edu	36	10	73497452	73497452	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:73497452G>C	uc001jso.1	-	c.634C>G	c.(634-636)CGG>GGG	p.R212G	SPOCK2_uc001jsp.1_Missense_Mutation_p.R212G	NM_014767	NP_055582	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	212					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding				0														0.363636	8.866893	9.233063	8	14	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73497452	73497452	15593	10	G	C	C	38	38	SPOCK2	C	3	3
HEPACAM	220296	broad.mit.edu	36	11	124300050	124300050	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:124300050G>C	uc001qbk.1	-	c.211C>G	c.(211-213)CTG>GTG	p.L71V	HEPACAM_uc009zbj.1_5'Flank|HEPACAM_uc001qbl.1_Missense_Mutation_p.L71V	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule	71	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)										0.3	11.96384	13.104259	9	21	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124300050	124300050	7335	11	G	C	C	34	34	HEPACAM	C	3	3
KCNQ1	3784	broad.mit.edu	36	11	2549198	2549198	+	Silent	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:2549198G>A	uc001lwn.1	+	c.672G>A	c.(670-672)ACG>ACA	p.T224T	KCNQ1_uc009ydp.1_Intron|KCNQ1_uc001lwo.1_Silent_p.T97T	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like	224	Extracellular (Potential).				blood circulation|membrane depolarization|muscle contraction|regulation of heart contraction|sensory perception of sound	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			ovary(1)	1		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)									0.285714	11.694759	12.271267	4	10	GG		KEEP	---	---	---	---	capture			Silent	SNP	2549198	2549198	8387	11	G	A	A	40	40	KCNQ1	A	1	1
NLRP6	171389	broad.mit.edu	36	11	271028	271028	+	Missense_Mutation	SNP	G	T	T			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:271028G>T	uc001loq.1	+	c.1294G>T	c.(1294-1296)GTA>TTA	p.V432L	NLRP6_uc009ybu.1_Missense_Mutation_p.V432L	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	432	NACHT.					cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)						236				0.266667	7.104658	7.836554	4	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	271028	271028	10884	11	G	T	T	44	44	NLRP6	T	3	3
OR4D6	219983	broad.mit.edu	36	11	58981241	58981241	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:58981241G>A	uc001nny.1	+	c.232G>A	c.(232-234)GTC>ATC	p.V78I		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	78	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.4375	335.763327	336.632983	112	144	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58981241	58981241	11465	11	G	A	A	40	40	OR4D6	A	1	1
OR2D2	120776	broad.mit.edu	36	11	6869496	6869496	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6869496G>A	uc001mew.1	-	c.812C>T	c.(811-813)TCG>TTG	p.S271L		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	271	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.247706	68.071724	74.385885	27	82	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6869496	6869496	11400	11	G	A	A	37	37	OR2D2	A	1	1
CABP1	9478	broad.mit.edu	36	12	119583302	119583302	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:119583302G>C	uc001tyu.1	+	c.985G>C	c.(985-987)GAG>CAG	p.E329Q	CABP1_uc001tyv.1_Missense_Mutation_p.E186Q|CABP1_uc001tyw.1_Missense_Mutation_p.E126Q|CABP1_uc001tyx.1_Missense_Mutation_p.E171Q	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN	calcium binding protein 1 isoform 3	329	EF-hand 3.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)													0.879531	2630.711527	2763.249209	825	113	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119583302	119583302	2647	12	G	C	C	33	33	CABP1	C	3	3
KNTC1	9735	broad.mit.edu	36	12	121618767	121618767	+	Missense_Mutation	SNP	T	G	G			TCGA-12-0826-01	TCGA-12-0826-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121618767T>G	uc001ucv.1	+	c.1611T>G	c.(1609-1611)AGT>AGG	p.S537R		NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	537					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)										0.354839	7.521281	8.265026	11	20	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	121618767	121618767	8742	12	T	G	G	60	60	KNTC1	G	4	4
CASC1	55259	broad.mit.edu	36	12	25191277	25191277	+	Missense_Mutation	SNP	C	A	A			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:25191277C>A	uc001rgk.1	-	c.614G>T	c.(613-615)AGT>ATT	p.S205I	CASC1_uc001rgm.2_Missense_Mutation_p.S263I|CASC1_uc001rgl.1_Missense_Mutation_p.S199I|CASC1_uc001rgj.1_Missense_Mutation_p.S159I	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform a	199										ovary(2)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)											0.18543	59.205193	73.223388	28	123	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25191277	25191277	2779	12	C	A	A	20	20	CASC1	A	3	3
KRT73	319101	broad.mit.edu	36	12	51296307	51296307	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51296307C>T	uc001sas.1	-	c.572G>A	c.(571-573)CGG>CAG	p.R191Q		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	191	Coil 1B.|Rod.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)	4				BRCA - Breast invasive adenocarcinoma(357;0.189)										0.116022	45.746084	98.255825	42	320	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51296307	51296307	8801	12	C	T	T	23	23	KRT73	T	1	1
DNAJC14	85406	broad.mit.edu	36	12	54502508	54502508	+	Missense_Mutation	SNP	C	T	T	rs61758445	unknown	TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54502508C>T	uc001shu.1	-	c.1814G>A	c.(1813-1815)CGT>CAT	p.R605H	DNAJC14_uc001shx.1_Missense_Mutation_p.R605H|DNAJC14_uc009zob.1_Missense_Mutation_p.R605H	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	605					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(2)|large_intestine(1)	3												OREG0021910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.242647	78.210492	86.423856	33	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54502508	54502508	4816	12	C	T	T	19	19	DNAJC14	T	1	1
ATP8A2	51761	broad.mit.edu	36	13	25171431	25171431	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:25171431C>T	uc001uqk.1	+	c.2332C>T	c.(2332-2334)CGG>TGG	p.R778W	ATP8A2_uc010aaj.1_Missense_Mutation_p.R328W	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	738	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)	3		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)										0.308176	390.976277	406.606342	147	330	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25171431	25171431	1212	13	C	T	T	23	23	ATP8A2	T	1	1
ZC3H13	23091	broad.mit.edu	36	13	45441424	45441424	+	Missense_Mutation	SNP	T	G	G			TCGA-12-0826-01	TCGA-12-0826-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:45441424T>G	uc001vas.1	-	c.3256A>C	c.(3256-3258)ACC>CCC	p.T1086P	ZC3H13_uc001vat.1_Missense_Mutation_p.T1086P|ZC3H13_uc001vaq.1_5'Flank|ZC3H13_uc001var.1_Missense_Mutation_p.T155P	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1086							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		Esophageal Squamous(187;747 2077 11056 31291 44172)								0.277778	8.035221	8.86195	5	13	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45441424	45441424	18153	13	T	G	G	59	59	ZC3H13	G	4	4
TMEM55B	90809	broad.mit.edu	36	14	19999293	19999293	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0826-01	TCGA-12-0826-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19999293A>G	uc001vxk.2	-	c.32T>C	c.(31-33)CTG>CCG	p.L11P	TMEM55B_uc001vxl.2_Missense_Mutation_p.L11P	NM_001100814	NP_001094284	Q86T03	TM55B_HUMAN	transmembrane protein 55B isoform 1	11						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)										0.428571	6.721251	6.752818	3	4	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19999293	19999293	16721	14	A	G	G	7	7	TMEM55B	G	4	4
OR10G2	26534	broad.mit.edu	36	14	21172003	21172003	+	Missense_Mutation	SNP	A	C	C			TCGA-12-0826-01	TCGA-12-0826-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:21172003A>C	uc001wbj.1	-	c.836T>G	c.(835-837)GTG>GGG	p.V279G		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G,	279	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)										0.40625	13.511553	13.843131	13	19	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21172003	21172003	11305	14	A	C	C	6	6	OR10G2	C	4	4
FANCM	57697	broad.mit.edu	36	14	44703453	44703453	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:44703453G>A	uc001wwd.2	+	c.1723G>A	c.(1723-1725)GGT>AGT	p.G575S	FANCM_uc001wwc.2_Missense_Mutation_p.G575S|FANCM_uc010anf.1_Missense_Mutation_p.G549S|FANCM_uc001wwe.2_Intron	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	575	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(2)|breast(1)	3										793				0.322485	287.247587	296.711052	109	229	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44703453	44703453	5907	14	G	A	A	43	43	FANCM	A	2	2
PGBD4	161779	broad.mit.edu	36	15	32182451	32182451	+	Nonsense_Mutation	SNP	C	T	T			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:32182451C>T	uc001zho.1	+	c.427C>T	c.(427-429)CGA>TGA	p.R143*	C15orf24_uc001zhm.1_5'Flank|C15orf24_uc001zhn.1_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	143											0		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)										0.142105	43.266997	66.677367	27	163	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	32182451	32182451	12206	15	C	T	T	27	27	PGBD4	T	5	1
ATPBD4	89978	broad.mit.edu	36	15	33617865	33617865	+	Nonsense_Mutation	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:33617865G>A	uc001zja.1	-	c.214C>T	c.(214-216)CGA>TGA	p.R72*	ATPBD4_uc001ziz.1_Nonsense_Mutation_p.R56*|ATPBD4_uc001zjb.1_Nonsense_Mutation_p.R72*	NM_080650	NP_542381	Q7L8W6	ATBD4_HUMAN	ATP binding domain 4 isoform 1	72											0		all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07)		all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)										0.096045	15.152473	73.057768	34	320	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	33617865	33617865	1221	15	G	A	A	39	39	ATPBD4	A	5	1
ARID3B	10620	broad.mit.edu	36	15	72623378	72623378	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72623378G>C	uc002aye.1	+	c.48G>C	c.(46-48)AAG>AAC	p.K16N	ARID3B_uc002ayc.2_Missense_Mutation_p.K16N|ARID3B_uc002ayd.1_Missense_Mutation_p.K16N	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B	16	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0														0.333333	7.841714	8.053382	3	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72623378	72623378	932	15	G	C	C	34	34	ARID3B	C	3	3
KIAA1199	57214	broad.mit.edu	36	15	78958123	78958123	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:78958123C>G	uc002bfw.1	+	c.101C>G	c.(100-102)GCT>GGT	p.A34G		NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199	34										ovary(1)	1														0.333333	6.420459	6.642637	3	6	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78958123	78958123	8521	15	C	G	G	28	28	KIAA1199	G	3	3
POLG	5428	broad.mit.edu	36	15	87674485	87674485	+	Missense_Mutation	SNP	A	C	C			TCGA-12-0826-01	TCGA-12-0826-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:87674485A>C	uc002bns.2	-	c.686T>G	c.(685-687)GTG>GGG	p.V229G	POLG_uc002bnr.2_Missense_Mutation_p.V229G	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA polymerase gamma	229					base-excision repair, gap-filling|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			Colon(73;648 1203 11348 18386 27782)								0.5	9.211335	9.211335	7	7	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87674485	87674485	12628	15	A	C	C	6	6	POLG	C	4	4
SEPT12	124404	broad.mit.edu	36	16	4775843	4775843	+	Missense_Mutation	SNP	G	T	T			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4775843G>T	uc002cxq.1	-	c.340C>A	c.(340-342)CCC>ACC	p.P114T	SEPT12_uc010bty.1_Non-coding_Transcript|SEPT12_uc002cxr.1_Missense_Mutation_p.P114T	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	septin 12	114					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity				0														0.231047	159.656656	178.018389	64	213	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4775843	4775843	14548	16	G	T	T	42	42	SEPT12	T	3	3
OGFOD1	55239	broad.mit.edu	36	16	55062094	55062094	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:55062094C>T	uc002ejb.1	+	c.1175C>T	c.(1174-1176)ACT>ATT	p.T392I	OGFOD1_uc002ejc.1_Missense_Mutation_p.T252I	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase	392					oxidation-reduction process		iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)									0.173913	6.385661	8.69538	4	19	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55062094	55062094	11246	16	C	T	T	20	20	OGFOD1	T	2	2
MYO15A	51168	broad.mit.edu	36	17	17963863	17963863	+	Missense_Mutation	SNP	T	A	A			TCGA-12-0826-01	TCGA-12-0826-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17963863T>A	uc010cpt.1	+	c.1024T>A	c.(1024-1026)TAC>AAC	p.Y342N	MYO15A_uc010cpu.1_Missense_Mutation_p.Y342N	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	342	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	6	all_neural(463;0.228)													0.25	7.995907	10.205922	9	27	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17963863	17963863	10458	17	T	A	A	53	53	MYO15A	A	4	4
CACNA1G	8913	broad.mit.edu	36	17	46008565	46008565	+	Silent	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:46008565G>A	uc002irk.1	+	c.1803G>A	c.(1801-1803)ACG>ACA	p.T601T	CACNA1G_uc002iri.1_Silent_p.T601T|CACNA1G_uc002irj.1_Silent_p.T601T|CACNA1G_uc002irl.1_Silent_p.T601T|CACNA1G_uc002irm.1_Silent_p.T601T|CACNA1G_uc002irn.1_Silent_p.T601T|CACNA1G_uc002iro.1_Silent_p.T601T|CACNA1G_uc002irp.1_Silent_p.T601T|CACNA1G_uc002irq.1_Silent_p.T601T|CACNA1G_uc002irr.1_Silent_p.T601T|CACNA1G_uc002irs.1_Silent_p.T601T|CACNA1G_uc002irt.1_Silent_p.T601T|CACNA1G_uc002irv.1_Silent_p.T601T|CACNA1G_uc002irw.1_Silent_p.T601T|CACNA1G_uc002iru.1_Silent_p.T601T|CACNA1G_uc002irx.1_Silent_p.T514T|CACNA1G_uc002iry.1_Silent_p.T514T|CACNA1G_uc002irz.1_Silent_p.T514T|CACNA1G_uc002isa.1_Silent_p.T514T|CACNA1G_uc002isb.1_Silent_p.T514T|CACNA1G_uc002isc.1_Silent_p.T514T|CACNA1G_uc002isd.1_Silent_p.T514T|CACNA1G_uc002ise.1_Silent_p.T514T|CACNA1G_uc002isf.1_Silent_p.T514T|CACNA1G_uc002isg.1_Silent_p.T514T|CACNA1G_uc002ish.1_Silent_p.T514T|CACNA1G_uc002isi.1_Silent_p.T514T	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	601	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)									0.46875	42.822781	42.849787	15	17	GG		KEEP	---	---	---	---	capture			Silent	SNP	46008565	46008565	2660	17	G	A	A	38	38	CACNA1G	A	1	1
EPX	8288	broad.mit.edu	36	17	53627479	53627479	+	Silent	SNP	C	T	T			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:53627479C>T	uc002ivq.2	+	c.750C>T	c.(748-750)GGC>GGT	p.G250G		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase	250					hydrogen peroxide catabolic process|oxidation-reduction process		heme binding|peroxidase activity|protein binding			ovary(2)	2														0.149466	58.856482	92.056301	42	239	CC		KEEP	---	---	---	---	capture			Silent	SNP	53627479	53627479	5393	17	C	T	T	27	27	EPX	T	1	1
SLC39A11	201266	broad.mit.edu	36	17	68357497	68357497	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:68357497C>G	uc002jjb.1	-	c.493G>C	c.(493-495)GCA>CCA	p.A165P	SLC39A11_uc002jja.1_Missense_Mutation_p.A158P|SLC39A11_uc002jjc.1_Missense_Mutation_p.A158P	NM_139177	NP_631916	Q8N1S5	S39AB_HUMAN	solute carrier family 39 (metal ion	165					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						NSCLC(95;736 1527 12296 39625 41839)								0.272727	7.420485	7.932503	3	8	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68357497	68357497	15111	17	C	G	G	26	26	SLC39A11	G	3	3
ZNF519	162655	broad.mit.edu	36	18	14096237	14096237	+	Missense_Mutation	SNP	C	A	A			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:14096237C>A	uc002kst.1	-	c.302G>T	c.(301-303)TGT>TTT	p.C101F	ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	zinc finger protein 519	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.25	6.595805	7.504305	4	12	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14096237	14096237	18558	18	C	A	A	17	17	ZNF519	A	3	3
DTNA	1837	broad.mit.edu	36	18	30654851	30654851	+	Silent	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:30654851G>A	uc010dmn.1	+	c.975G>A	c.(973-975)GAG>GAA	p.E325E	DTNA_uc002kxu.2_Silent_p.E325E|DTNA_uc002kxv.2_Silent_p.E325E|DTNA_uc002kxw.2_Silent_p.E325E|DTNA_uc002kxx.2_Silent_p.E325E|DTNA_uc010dmj.1_Silent_p.E325E|DTNA_uc002kxz.2_Silent_p.E325E|DTNA_uc002kxy.2_Silent_p.E325E|DTNA_uc010dmk.1_Non-coding_Transcript|DTNA_uc010dml.1_Silent_p.E325E|DTNA_uc002kyb.2_Silent_p.E325E|DTNA_uc010dmm.1_Silent_p.E325E|DTNA_uc010dmo.1_Silent_p.E7E|DTNA_uc002kyd.2_Silent_p.E7E|DTNA_uc002kye.2_Silent_p.E7E	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	325					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0														0.357143	6.376366	6.667224	5	9	GG		KEEP	---	---	---	---	capture			Silent	SNP	30654851	30654851	4973	18	G	A	A	33	33	DTNA	A	2	2
ADCYAP1	116	broad.mit.edu	36	18	895414	895414	+	Silent	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:895414G>A	uc010dkg.1	+	c.27G>A	c.(25-27)CTG>CTA	p.L9L	ADCYAP1_uc010dkh.1_Silent_p.L9L	NM_001099733	NP_001108	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide	9					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding				0														0.592593	51.802035	52.003874	16	11	GG		KEEP	---	---	---	---	capture			Silent	SNP	895414	895414	303	18	G	A	A	47	47	ADCYAP1	A	2	2
PPAN-P2RY11	692312	broad.mit.edu	36	19	10081307	10081307	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10081307G>A	uc002mna.1	+	c.514G>A	c.(514-516)GTG>ATG	p.V172M	PPAN_uc002mmz.1_Missense_Mutation_p.V172M|PPAN_uc002mnb.1_Missense_Mutation_p.V119M|SNORD105B_uc010dwz.1_5'Flank|P2RY11_uc002mnc.1_5'Flank	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	172	Brix.				RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)											0.272251	125.758855	134.665307	52	139	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10081307	10081307	12719	19	G	A	A	44	44	PPAN-P2RY11	A	2	2
CACNA1A	773	broad.mit.edu	36	19	13279606	13279606	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:13279606G>A	uc010dzd.1	-	c.1979C>T	c.(1978-1980)ACG>ATG	p.T660M	CACNA1A_uc010dzc.1_Missense_Mutation_p.T185M|CACNA1A_uc002mwz.2_Missense_Mutation_p.T660M|CACNA1A_uc002mwy.2_Missense_Mutation_p.T659M|CACNA1A_uc010dze.1_Missense_Mutation_p.T660M	NM_023035	NP_075461	O00555	CAC1A_HUMAN	Voltage-dependent P/Q-type calcium channel subunit alpha-1A (Voltage- gated calcium channel subunit alpha Cav2.1) (Calcium channel, L type, alpha-1 polypeptide isoform 4) (Brain calcium channel I) (BI).	660	Extracellular (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)									0.095238	9.268947	50.707879	24	228	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13279606	13279606	2654	19	G	A	A	40	40	CACNA1A	A	1	1
CYP4F2	8529	broad.mit.edu	36	19	15864189	15864189	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15864189G>A	uc002nbs.1	-	c.455C>T	c.(454-456)ACG>ATG	p.T152M		NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	152					leukotriene metabolic process|long-chain fatty acid metabolic process|oxidation-reduction process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2														0.160494	19.533516	28.419176	13	68	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15864189	15864189	4353	19	G	A	A	40	40	CYP4F2	A	1	1
ATP8B3	148229	broad.mit.edu	36	19	1742823	1742823	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0826-01	TCGA-12-0826-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1742823T>C	uc002ltw.1	-	c.2228A>G	c.(2227-2229)GAC>GGC	p.D743G	ATP8B3_uc002ltv.1_Missense_Mutation_p.D706G|ATP8B3_uc002ltx.1_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	743	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.272727	23.174834	25.228763	12	32	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1742823	1742823	1215	19	T	C	C	58	58	ATP8B3	C	4	4
COMP	1311	broad.mit.edu	36	19	18756097	18756097	+	Missense_Mutation	SNP	A	C	C			TCGA-12-0826-01	TCGA-12-0826-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18756097A>C	uc002nke.1	-	c.1991T>G	c.(1990-1992)GTG>GGG	p.V664G	COMP_uc002nkd.1_Missense_Mutation_p.V631G	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	664	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0														0.171429	6.52261	10.108941	6	29	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18756097	18756097	3862	19	A	C	C	6	6	COMP	C	4	4
ZNF585B	92285	broad.mit.edu	36	19	42368339	42368339	+	Nonsense_Mutation	SNP	G	C	C			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42368339G>C	uc002ofq.1	-	c.1940C>G	c.(1939-1941)TCA>TGA	p.S647*	ZNF585B_uc002ofr.1_Nonsense_Mutation_p.S461*	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	zinc finger protein 585B	647	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			Melanoma(93;882 1454 18863 28917 48427)								0.214286	7.717158	8.772524	3	11	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	42368339	42368339	18613	19	G	C	C	45	45	ZNF585B	C	5	3
SIPA1L3	23094	broad.mit.edu	36	19	43271249	43271249	+	Missense_Mutation	SNP	T	G	G			TCGA-12-0826-01	TCGA-12-0826-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43271249T>G	uc002ohk.1	+	c.1583T>G	c.(1582-1584)GTG>GGG	p.V528G		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	528					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)											0.708333	19.978771	20.68396	17	7	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43271249	43271249	14826	19	T	G	G	59	59	SIPA1L3	G	4	4
SCAF1	58506	broad.mit.edu	36	19	54849862	54849862	+	Missense_Mutation	SNP	A	C	C			TCGA-12-0826-01	TCGA-12-0826-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54849862A>C	uc002poq.1	+	c.3541A>C	c.(3541-3543)ACC>CCC	p.T1181P	SCAF1_uc002por.1_Missense_Mutation_p.T1181P	NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1181					mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)										0.230769	6.708978	8.478664	6	20	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54849862	54849862	14349	19	A	C	C	6	6	SCAF1	C	4	4
MYO1F	4542	broad.mit.edu	36	19	8493325	8493325	+	Silent	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8493325G>A	uc002mkg.1	-	c.3156C>T	c.(3154-3156)TAC>TAT	p.Y1052Y		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	1052	SH3.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)	2														0.285714	48.623603	51.219915	18	45	GG		KEEP	---	---	---	---	capture			Silent	SNP	8493325	8493325	10468	19	G	A	A	40	40	MYO1F	A	1	1
CELSR2	1952	broad.mit.edu	36	1	109594429	109594429	+	Missense_Mutation	SNP	A	C	C			TCGA-12-0826-01	TCGA-12-0826-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109594429A>C	uc001dxa.2	+	c.205A>C	c.(205-207)ACC>CCC	p.T69P		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	69	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of gene-specific transcription|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)	3		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		NSCLC(158;1285 2011 34800 34852 42084)								0.266667	6.85571	7.626834	4	11	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	109594429	109594429	3355	1	A	C	C	6	6	CELSR2	C	4	4
NPL	80896	broad.mit.edu	36	1	181052516	181052516	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:181052516G>C	uc009wyb.1	+	c.409G>C	c.(409-411)GCC>CCC	p.A137P	NPL_uc001gpo.1_Missense_Mutation_p.A118P|NPL_uc009wyc.1_Missense_Mutation_p.A137P|NPL_uc001gpp.2_Missense_Mutation_p.A137P|NPL_uc001gpq.1_Missense_Mutation_p.A137P	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase	137					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			ovary(1)|central_nervous_system(1)	2														0.428571	6.920811	6.952399	3	4	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	181052516	181052516	10990	1	G	C	C	46	46	NPL	C	3	3
GLT25D2	23127	broad.mit.edu	36	1	182181214	182181214	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0826-01	TCGA-12-0826-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:182181214A>G	uc001gqr.1	-	c.1244T>C	c.(1243-1245)CTC>CCC	p.L415P	GLT25D2_uc001gqq.1_Missense_Mutation_p.L152P|GLT25D2_uc001gqs.1_Missense_Mutation_p.L295P|GLT25D2_uc001gqp.1_Missense_Mutation_p.L23P	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	415					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						Esophageal Squamous(10;42 606 18489 38825)								0.26087	7.017893	9.737948	12	34	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	182181214	182181214	6735	1	A	G	G	11	11	GLT25D2	G	4	4
HMCN1	83872	broad.mit.edu	36	1	184198401	184198401	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184198401G>A	uc001grq.1	+	c.1957G>A	c.(1957-1959)GTG>ATG	p.V653M	HMCN1_uc001grr.1_De_novo_Start_OutOfFrame	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1	653	Ig-like C2-type 3.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.095	13.271059	46.208238	19	181	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	184198401	184198401	7511	1	G	A	A	40	40	HMCN1	A	1	1
HMCN1	83872	broad.mit.edu	36	1	184329301	184329301	+	Missense_Mutation	SNP	C	A	A			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184329301C>A	uc001grq.1	+	c.10073C>A	c.(10072-10074)ACT>AAT	p.T3358N		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1	3358	Ig-like C2-type 32.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.307692	7.692904	8.123071	4	9	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	184329301	184329301	7511	1	C	A	A	20	20	HMCN1	A	3	3
USH2A	7399	broad.mit.edu	36	1	213981452	213981452	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:213981452G>A	uc001hku.1	-	c.11599C>T	c.(11599-11601)CCA>TCA	p.P3867S		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3867	Fibronectin type-III 24.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.15	15.7397	22.784027	9	51	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	213981452	213981452	17598	1	G	A	A	43	43	USH2A	A	2	2
OR2M5	127059	broad.mit.edu	36	1	246375303	246375303	+	Silent	SNP	C	T	T			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246375303C>T	uc001idz.1	+	c.231C>T	c.(229-231)ACC>ACT	p.T77T		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	77	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)											0.107056	48.706776	111.674219	44	367	CC		KEEP	---	---	---	---	capture			Silent	SNP	246375303	246375303	11419	1	C	T	T	23	23	OR2M5	T	1	1
EIF2C3	192669	broad.mit.edu	36	1	36247218	36247218	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0826-01	TCGA-12-0826-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:36247218T>C	uc001bzp.1	+	c.1015T>C	c.(1015-1017)TAC>CAC	p.Y339H	EIF2C3_uc001bzq.1_Missense_Mutation_p.Y105H	NM_024852	NP_803171	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	339	PAZ.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				Colon(144;60 2363 31043 40539)								0.380952	11.437858	11.750806	8	13	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36247218	36247218	5196	1	T	C	C	53	53	EIF2C3	C	4	4
TTC22	55001	broad.mit.edu	36	1	55024262	55024262	+	Silent	SNP	C	T	T			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:55024262C>T	uc009vzt.1	-	c.1002G>A	c.(1000-1002)GCG>GCA	p.A334A	TTC22_uc001cxz.2_Silent_p.A334A	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22 isoform 1	334							binding				0														0.125	7.3168	13.913918	6	42	CC		KEEP	---	---	---	---	capture			Silent	SNP	55024262	55024262	17243	1	C	T	T	19	19	TTC22	T	1	1
KANK4	163782	broad.mit.edu	36	1	62512728	62512728	+	Silent	SNP	A	C	C			TCGA-12-0826-01	TCGA-12-0826-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:62512728A>C	uc001dah.2	-	c.636T>G	c.(634-636)GGT>GGG	p.G212G	KANK4_uc001dai.2_Intron|KANK4_uc001dag.2_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	212	Pro-rich.									ovary(3)|lung(1)	4														0.5	11.623832	11.623832	9	9	AA		KEEP	---	---	---	---	capture			Silent	SNP	62512728	62512728	8283	1	A	C	C	2	2	KANK4	C	4	4
SEMG1	6406	broad.mit.edu	36	20	43270242	43270242	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43270242G>A	uc002xni.1	+	c.890G>A	c.(889-891)CGA>CAA	p.R297Q	SEMG1_uc002xnh.1_Missense_Mutation_p.R297Q|SEMG1_uc002xnj.1_Intron|SEMG2_uc010ggz.1_Intron	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I isoform a preproprotein	297	58 AA repeat 1.				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity				0		Myeloproliferative disorder(115;0.0122)												0.235294	48.754354	54.204874	20	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43270242	43270242	14530	20	G	A	A	37	37	SEMG1	A	1	1
PRPF6	24148	broad.mit.edu	36	20	62129452	62129452	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0826-01	TCGA-12-0826-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:62129452A>G	uc002yho.1	+	c.2258A>G	c.(2257-2259)GAG>GGG	p.E753G	PRPF6_uc002yhp.1_Missense_Mutation_p.E713G	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	753	HAT 8.				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)													0.333333	7.128311	7.518492	5	10	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62129452	62129452	13017	20	A	G	G	11	11	PRPF6	G	4	4
KRTAP10-10	353333	broad.mit.edu	36	21	44882303	44882303	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44882303G>A	uc002zfq.1	+	c.541G>A	c.(541-543)GCC>ACC	p.A181T	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	keratin associated protein 10-10	181	15 X 5 AA repeats of C-C-X(3).|12.					keratin filament					0														0.241935	98.997249	110.292039	45	141	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44882303	44882303	8821	21	G	A	A	38	38	KRTAP10-10	A	1	1
TPTE	7179	broad.mit.edu	36	21	9932239	9932239	+	Nonsense_Mutation	SNP	A	T	T			TCGA-12-0826-01	TCGA-12-0826-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr21:9932239A>T	uc002yip.1	-	c.1388T>A	c.(1387-1389)TTA>TAA	p.L463*	TPTE_uc002yiq.1_Nonsense_Mutation_p.L445*|TPTE_uc002yir.1_Nonsense_Mutation_p.L425*|TPTE_uc010gkv.1_Nonsense_Mutation_p.L325*|TPTE_uc002yis.1_Non-coding_Transcript	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	463	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)										0.159383	106.603786	149.610208	62	327	AA		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	9932239	9932239	16974	21	A	T	T	13	13	TPTE	T	5	4
TOP3B	8940	broad.mit.edu	36	22	20658737	20658737	+	Missense_Mutation	SNP	T	A	A			TCGA-12-0826-01	TCGA-12-0826-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:20658737T>A	uc002zvs.1	-	c.194A>T	c.(193-195)GAT>GTT	p.D65V	TOP3B_uc002zvt.2_Missense_Mutation_p.D65V|TOP3B_uc010gtl.1_Missense_Mutation_p.D65V	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	65	Toprim.				DNA topological change|DNA unwinding involved in replication	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)										0.341463	38.335539	39.247087	14	27	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20658737	20658737	16910	22	T	A	A	50	50	TOP3B	A	4	4
AMMECR1L	83607	broad.mit.edu	36	2	128347907	128347907	+	Silent	SNP	T	G	G			TCGA-12-0826-01	TCGA-12-0826-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:128347907T>G	uc002tpl.1	-	c.372A>C	c.(370-372)CCA>CCC	p.P124P	AMMECR1L_uc002tpm.1_Silent_p.P124P	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	AMME chromosomal region gene 1-like	124	AMMECR1.									central_nervous_system(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)										0.416667	14.521097	14.822054	15	21	TT		KEEP	---	---	---	---	capture			Silent	SNP	128347907	128347907	582	2	T	G	G	59	59	AMMECR1L	G	4	4
ATG9A	79065	broad.mit.edu	36	2	219795131	219795131	+	Missense_Mutation	SNP	A	C	C			TCGA-12-0826-01	TCGA-12-0826-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219795131A>C	uc002vke.1	-	c.2030T>G	c.(2029-2031)GTG>GGG	p.V677G	ABCB6_uc010fwe.1_5'Flank|ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Missense_Mutation_p.V677G	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	677	Cytoplasmic (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.384615	8.060258	8.247886	5	8	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	219795131	219795131	1121	2	A	C	C	6	6	ATG9A	C	4	4
TMEM45A	55076	broad.mit.edu	36	3	101758306	101758306	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0826-01	TCGA-12-0826-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:101758306A>G	uc003dua.1	+	c.251A>G	c.(250-252)GAG>GGG	p.E84G	TMEM45A_uc003dtz.1_Missense_Mutation_p.E68G	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	68	Helical; (Potential).					integral to membrane				ovary(1)	1														0.5	11.470243	11.470243	5	5	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101758306	101758306	16708	3	A	G	G	11	11	TMEM45A	G	4	4
COPB2	9276	broad.mit.edu	36	3	140577137	140577137	+	Missense_Mutation	SNP	A	C	C			TCGA-12-0826-01	TCGA-12-0826-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:140577137A>C	uc003etf.2	-	c.514T>G	c.(514-516)TTG>GTG	p.L172V	COPB2_uc010hui.1_Missense_Mutation_p.L143V	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	172	WD 4.				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2														0.636364	8.285411	8.409577	7	4	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140577137	140577137	3867	3	A	C	C	2	2	COPB2	C	4	4
BCHE	590	broad.mit.edu	36	3	167031345	167031345	+	Silent	SNP	A	G	G			TCGA-12-0826-01	TCGA-12-0826-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:167031345A>G	uc003fem.2	-	c.171T>C	c.(169-171)CTT>CTC	p.L57L	BCHE_uc003fen.2_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	57					acetylcholine catabolic process|choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)									0.407725	277.874114	279.6081	95	138	AA		KEEP	---	---	---	---	capture			Silent	SNP	167031345	167031345	1379	3	A	G	G	5	5	BCHE	G	4	4
C3orf63	23272	broad.mit.edu	36	3	56655962	56655962	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:56655962G>A	uc003did.2	-	c.1843C>T	c.(1843-1845)CCT>TCT	p.P615S	C3orf63_uc003dic.2_Missense_Mutation_p.P219S|C3orf63_uc003die.2_Missense_Mutation_p.P615S	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	615										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)										0.5	21.524924	21.524924	7	7	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56655962	56655962	2332	3	G	A	A	44	44	C3orf63	A	2	2
EPHA6	285220	broad.mit.edu	36	3	98189330	98189330	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:98189330G>A	uc010how.1	+	c.917G>A	c.(916-918)CGT>CAT	p.R306H	EPHA6_uc003drp.1_Missense_Mutation_p.R306H	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	211	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.433333	768.772022	771.078468	260	340	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98189330	98189330	5364	3	G	A	A	40	40	EPHA6	A	1	1
TACR3	6870	broad.mit.edu	36	4	104860091	104860091	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:104860091G>A	uc003hxe.1	-	c.191C>T	c.(190-192)TCC>TTC	p.S64F		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	64	Extracellular (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)										0.538462	11.379579	11.385057	7	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	104860091	104860091	16028	4	G	A	A	41	41	TACR3	A	2	2
PCDH10	57575	broad.mit.edu	36	4	134291614	134291614	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:134291614G>C	uc003iha.1	+	c.869G>C	c.(868-870)AGC>ACC	p.S290T	PCDH10_uc003igz.1_Missense_Mutation_p.S290T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	290	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(193;0.227)										0.375	7.122455	7.232325	3	5	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	134291614	134291614	11927	4	G	C	C	34	34	PCDH10	C	3	3
ACCN5	51802	broad.mit.edu	36	4	157004074	157004074	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:157004074G>A	uc003ipe.1	-	c.323C>T	c.(322-324)GCT>GTT	p.A108V		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	amiloride-sensitive cation channel 5,	108	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)										0.176471	7.01472	8.691322	3	14	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	157004074	157004074	133	4	G	A	A	34	34	ACCN5	A	2	2
MCC	4163	broad.mit.edu	36	5	112467880	112467880	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0826-01	TCGA-12-0826-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:112467880T>C	uc003kql.2	-	c.1099A>G	c.(1099-1101)AAG>GAG	p.K367E	MCC_uc003kqj.2_Missense_Mutation_p.K177E|MCC_uc003kqk.2_Non-coding_Transcript|MCC_uc010jcd.1_Missense_Mutation_p.K139E	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 1	177					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)						12				0.636364	11.237224	11.374133	7	4	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112467880	112467880	9762	5	T	C	C	62	62	MCC	C	4	4
CDH18	1016	broad.mit.edu	36	5	19648381	19648381	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:19648381G>C	uc003jgc.1	-	c.730C>G	c.(730-732)CAA>GAA	p.Q244E	CDH18_uc003jgd.1_Missense_Mutation_p.Q244E|CDH18_uc010iua.1_Missense_Mutation_p.Q244E|CDH18_uc010itz.1_Missense_Mutation_p.Q244E	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	244	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.171429	9.141191	12.705269	6	29	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19648381	19648381	3232	5	G	C	C	46	46	CDH18	C	3	3
BRD9	65980	broad.mit.edu	36	5	939873	939873	+	Missense_Mutation	SNP	A	C	C			TCGA-12-0826-01	TCGA-12-0826-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:939873A>C	uc003jbo.1	-	c.379T>G	c.(379-381)TTA>GTA	p.L127V	BRD9_uc003jbl.1_Intron|BRD9_uc003jbm.1_Intron|BRD9_uc003jbn.1_Intron	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	bromodomain containing 9 isoform 1	239							nucleic acid binding				0			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)											0.636364	7.239424	7.353437	7	4	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	939873	939873	1538	5	A	C	C	2	2	BRD9	C	4	4
PTPRK	5796	broad.mit.edu	36	6	128339772	128339772	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:128339772C>T	uc010kfc.1	-	c.3850G>A	c.(3850-3852)GAC>AAC	p.D1284N	PTPRK_uc003qbj.1_Missense_Mutation_p.D1278N|PTPRK_uc003qbk.1_Missense_Mutation_p.D1277N	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1277	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)										0.306818	66.785983	69.718284	27	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128339772	128339772	13262	6	C	T	T	31	31	PTPRK	T	1	1
HBS1L	10767	broad.mit.edu	36	6	135365584	135365584	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0826-01	TCGA-12-0826-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:135365584T>C	uc003qez.1	-	c.520A>G	c.(520-522)ATG>GTG	p.M174V	HBS1L_uc003qey.1_Missense_Mutation_p.M10V	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	HBS1-like isoform 1	174					signal transduction		GTP binding|GTPase activity|translation elongation factor activity				0	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)										0.32	48.580755	50.020962	16	34	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135365584	135365584	7269	6	T	C	C	49	49	HBS1L	C	4	4
RGS17	26575	broad.mit.edu	36	6	153406811	153406811	+	Silent	SNP	T	G	G			TCGA-12-0826-01	TCGA-12-0826-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:153406811T>G	uc003qpm.1	-	c.36A>C	c.(34-36)ACA>ACC	p.T12T		NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN	regulator of G-protein signalling 17	12					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			pancreas(1)	1		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		Esophageal Squamous(78;500 1236 6775 24364 49058)								0.466667	9.027586	9.056863	7	8	TT		KEEP	---	---	---	---	capture			Silent	SNP	153406811	153406811	13773	6	T	G	G	59	59	RGS17	G	4	4
TCP1	6950	broad.mit.edu	36	6	160129156	160129156	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:160129156G>C	uc003qsr.1	-	c.74C>G	c.(73-75)GCA>GGA	p.A25G	TCP1_uc003qss.1_Intron|TCP1_uc010kjz.1_Missense_Mutation_p.A25G|TCP1_uc003qst.1_Intron|SNORA29_uc003qsv.1_5'Flank|MRPL18_uc010kkb.1_5'Flank|MRPL18_uc003qsw.2_5'Flank	NM_030752	NP_001008897	P17987	TCPA_HUMAN	T-complex protein 1 isoform a	25					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)										0.4	8.089652	8.179004	4	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	160129156	160129156	16235	6	G	C	C	46	46	TCP1	C	3	3
WRNIP1	56897	broad.mit.edu	36	6	2729558	2729558	+	Silent	SNP	T	G	G			TCGA-12-0826-01	TCGA-12-0826-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:2729558T>G	uc003mtz.1	+	c.1644T>G	c.(1642-1644)GGT>GGG	p.G548G	WRNIP1_uc003mua.1_Silent_p.G523G	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Werner helicase interacting protein isoform 1	548					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			ovary(1)|pancreas(1)	2	Ovarian(93;0.0412)	all_hematologic(90;0.0895)												0.333333	9.134874	9.521866	5	10	TT		KEEP	---	---	---	---	capture			Silent	SNP	2729558	2729558	17977	6	T	G	G	58	58	WRNIP1	G	4	4
VARS	7407	broad.mit.edu	36	6	31854918	31854918	+	Silent	SNP	A	G	G			TCGA-12-0826-01	TCGA-12-0826-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31854918A>G	uc003nxe.1	-	c.3531T>C	c.(3529-3531)GCT>GCC	p.A1177A	C6orf27_uc003nxb.2_5'Flank|C6orf27_uc003nxd.2_5'Flank|VARS_uc003nxf.1_Silent_p.A114A	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1177					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			ovary(1)	1					L-Valine(DB00161)									0.285714	9.832703	10.704714	6	15	AA		KEEP	---	---	---	---	capture			Silent	SNP	31854918	31854918	17688	6	A	G	G	7	7	VARS	G	4	4
RBM28	55131	broad.mit.edu	36	7	127742084	127742084	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:127742084C>T	uc003vmp.2	-	c.2014G>A	c.(2014-2016)GCG>ACG	p.A672T	RBM28_uc003vmo.2_Missense_Mutation_p.A214T	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	672					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2														0.289524	403.172229	424.029301	152	373	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	127742084	127742084	13590	7	C	T	T	26	26	RBM28	T	2	2
JHDM1D	80853	broad.mit.edu	36	7	139437376	139437376	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:139437376C>T	uc003vvm.1	-	c.2813G>A	c.(2812-2814)CGT>CAT	p.R938H	JHDM1D_uc010lng.1_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	938					midbrain development|oxidation-reduction process|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)													0.18123	86.357035	115.918998	56	253	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139437376	139437376	8252	7	C	T	T	19	19	JHDM1D	T	1	1
DNAH11	8701	broad.mit.edu	36	7	21814104	21814104	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:21814104C>T	uc003svc.1	+	c.10265C>T	c.(10264-10266)GCG>GTG	p.A3422V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3422					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.159653	208.778478	297.869111	129	679	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21814104	21814104	4781	7	C	T	T	27	27	DNAH11	T	1	1
HECW1	23072	broad.mit.edu	36	7	43451354	43451354	+	Silent	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:43451354G>A	uc003tid.1	+	c.2058G>A	c.(2056-2058)TCG>TCA	p.S686S		NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	686	Cys-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.262136	65.535462	70.773279	27	76	GG		KEEP	---	---	---	---	capture			Silent	SNP	43451354	43451354	7325	7	G	A	A	40	40	HECW1	A	1	1
PEX1	5189	broad.mit.edu	36	7	91961628	91961628	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:91961628G>C	uc003uly.1	-	c.2945C>G	c.(2944-2946)GCT>GGT	p.A982G	PEX1_uc010ley.1_Missense_Mutation_p.A925G	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	982					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)											0.384615	7.54214	7.702729	5	8	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91961628	91961628	12157	7	G	C	C	34	34	PEX1	C	3	3
FAM167A	83648	broad.mit.edu	36	8	11339063	11339063	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:11339063G>C	uc010lry.1	-	c.268C>G	c.(268-270)CAG>GAG	p.Q90E	FAM167A_uc003wtw.2_Missense_Mutation_p.Q90E	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	hypothetical protein LOC83648	90											0														0.363636	8.592642	8.773964	4	7	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11339063	11339063	5687	8	G	C	C	46	46	FAM167A	C	3	3
RDH10	157506	broad.mit.edu	36	8	74397787	74397787	+	Missense_Mutation	SNP	C	A	A			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:74397787C>A	uc003xzi.1	+	c.988C>A	c.(988-990)CAA>AAA	p.Q330K	RDH10_uc003xzj.1_Missense_Mutation_p.Q165K	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10	330					oxidation-reduction process|retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity				0	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)											0.285714	7.089403	7.670054	4	10	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74397787	74397787	13658	8	C	A	A	25	25	RDH10	A	3	3
STOML2	30968	broad.mit.edu	36	9	35091496	35091496	+	Missense_Mutation	SNP	C	A	A			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35091496C>A	uc003zwi.1	-	c.506G>T	c.(505-507)GGT>GTT	p.G169V	STOML2_uc003zwh.1_Missense_Mutation_p.G60V|STOML2_uc003zwj.1_Missense_Mutation_p.G60V|STOML2_uc003zwk.1_Missense_Mutation_p.G118V	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	169						cytoskeleton	receptor binding				0			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)											0.45	14.596165	14.631659	9	11	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35091496	35091496	15834	9	C	A	A	18	18	STOML2	A	3	3
SHC3	53358	broad.mit.edu	36	9	90818206	90818206	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0826-01	TCGA-12-0826-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:90818206C>G	uc004aqg.1	-	c.1761G>C	c.(1759-1761)CAG>CAC	p.Q587H		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain containing transforming	587	SH2.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4														0.6	8.024574	8.068094	3	2	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	90818206	90818206	14764	9	C	G	G	28	28	SHC3	G	3	3
CACNA1F	778	broad.mit.edu	36	X	48970070	48970070	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48970070G>A	uc004dnb.1	-	c.1348C>T	c.(1348-1350)CGT>TGT	p.R450C	CACNA1F_uc010nip.1_Missense_Mutation_p.R439C	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	450	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)					279				0.242991	63.28212	69.669072	26	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48970070	48970070	2659	23	G	A	A	40	40	CACNA1F	A	1	1
ERCC6L	54821	broad.mit.edu	36	X	71342125	71342125	+	Missense_Mutation	SNP	T	A	A			TCGA-12-0826-01	TCGA-12-0826-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:71342125T>A	uc004eaq.1	-	c.3217A>T	c.(3217-3219)AGG>TGG	p.R1073W	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.R950W	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	1073					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)													0.271429	101.799047	108.388452	38	102	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71342125	71342125	5411	23	T	A	A	56	56	ERCC6L	A	4	4
PCDH19	57526	broad.mit.edu	36	X	99438333	99438333	+	Silent	SNP	G	A	A			TCGA-12-0826-01	TCGA-12-0826-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:99438333G>A	uc010nmz.1	-	c.3045C>T	c.(3043-3045)TTC>TTT	p.F1015F	PCDH19_uc004efw.2_Silent_p.F967F|PCDH19_uc004efx.2_Silent_p.F968F	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	1015	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F1015F(1)		ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7														0.099031	32.780766	182.039061	92	837	GG		KEEP	---	---	---	---	capture			Silent	SNP	99438333	99438333	11934	23	G	A	A	37	37	PCDH19	A	1	1
TMEM117	84216	broad.mit.edu	36	12	42524819	42524823	+	Frame_Shift_Del	DEL	ACCCA	-	-			TCGA-12-0826-01	TCGA-12-0826-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:42524819_42524823delACCCA	uc001rod.1	+	c.98_102delACCCA	c.(97-102)GACCCAfs	p.D33fs	TMEM117_uc001roe.1_5'UTR|TMEM117_uc009zkc.1_Frame_Shift_Del_p.D33fs	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	33_34	Helical; (Potential).					endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)										0.39			145	228				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	42524819	42524823	16562	12	ACCCA	-	-	10	10	TMEM117	-	5	5
LPCAT3	10162	broad.mit.edu	36	12	6956900	6956931	+	Frame_Shift_Del	DEL	TGGCGGCCAGCTTGCTCAGGGTGGGGCTCTCT	-	-			TCGA-12-0826-01	TCGA-12-0826-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6956900_6956931delTGGCGGCCAGCTTGCTCAGGGTGGGGCTCTCT	uc001qsi.1	-	c.1206_1237delAGAGAGCCCCACCCTGAGCAAGCTGGCCGCCA	c.(1204-1239)CAAGAGAGCCCCACCCTGAGCAAGCTGGCCGCCATTfs	p.Q402fs	LPCAT3_uc009zfp.1_Non-coding_Transcript	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	O-acyltransferase (membrane bound) domain	402_413					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			ovary(1)	1														0.78			104	29				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	6956900	6956931	9285	12	TGGCGGCCAGCTTGCTCAGGGTGGGGCTCTCT	-	-	51	51	LPCAT3	-	5	5
SNRNP70	6625	broad.mit.edu	36	19	54303336	54303337	+	Frame_Shift_Ins	INS	-	G	G			TCGA-12-0826-01	TCGA-12-0826-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54303336_54303337insG	uc002pmk.1	+	c.1138_1139insG	c.(1138-1140)CGGfs	p.R380fs	SNRNP70_uc002pmh.1_Frame_Shift_Ins_p.N157fs|SNRNP70_uc002pmi.1_Frame_Shift_Ins_p.R371fs|SNRNP70_uc002pml.1_Frame_Shift_Ins_p.N166fs|SNRNP70_uc002pmm.1_Non-coding_Transcript|SNRNP70_uc002pmn.1_Frame_Shift_Ins_p.R275fs|SNRNP70_uc002pmo.1_Frame_Shift_Ins_p.R284fs|SNRNP70_uc010ems.1_Frame_Shift_Ins_p.N166fs	NM_003089	NP_003080	P08621	RU17_HUMAN	U1 small nuclear ribonucleoprotein 70 kDa	380	Arg/Asp/Glu-rich (mixed charge).				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0														0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	54303336	54303337	15358	19	-	G	G	19	19	SNRNP70	G	5	5
MAP9	79884	broad.mit.edu	36	4	156493319	156493319	+	Frame_Shift_Del	DEL	T	-	-			TCGA-12-0826-01	TCGA-12-0826-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:156493319_156493319delT	uc003ios.1	-	c.1700_1700delA	c.(1699-1701)AAGfs	p.K567fs	MAP9_uc010iqa.1_Non-coding_Transcript	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	567	Potential.				cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)										0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	156493319	156493319	9653	4	T	-	-	56	56	MAP9	-	5	5
RP1	6101	broad.mit.edu	36	8	55701366	55701366	+	Frame_Shift_Del	DEL	A	-	-			TCGA-12-0826-01	TCGA-12-0826-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:55701366_55701366delA	uc003xsd.1	+	c.2371_2371delA	c.(2371-2373)AAAfs	p.K791fs	RP1_uc003xse.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	791					cell projection organization|intracellular signal transduction|phototransduction, visible light|visual perception	cilium axoneme|cytoplasm|microtubule|photoreceptor connecting cilium|photoreceptor outer segment				ovary(4)|pancreas(1)	5		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			Colon(91;1014 1389 7634 14542 40420)								0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	55701366	55701366	14011	8	A	-	-	13	13	RP1	-	5	5
