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
CHUK	1147	broad.mit.edu	36	10	101957071	101957071	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:101957071A>C	uc001kqp.1	-	c.1137T>G	c.(1135-1137)TGT>TGG	p.C379W		NM_001278	NP_001269	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	379					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		Ovarian(159;52 1904 10536 35305 37148)			p.C379W(DEL-Tumor)	415				0.6	6.719567	6.762468	3	2	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101957071	101957071	3550	10	A	C	C	6	6	CHUK	C	4	4
WDR37	22884	broad.mit.edu	36	10	1141170	1141170	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:1141170T>C	uc009xhm.1	+	c.1069T>C	c.(1069-1071)TCC>CCC	p.S357P	WDR37_uc001igf.1_Missense_Mutation_p.S356P|WDR37_uc009xhn.1_Non-coding_Transcript|WDR37_uc001igg.1_Non-coding_Transcript	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	356	WD 4.										0		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)										0.25	8.834846	11.210756	10	30	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1141170	1141170	17864	10	T	C	C	54	54	WDR37	C	4	4
TDRD1	56165	broad.mit.edu	36	10	115975884	115975884	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:115975884A>C	uc001lbg.1	+	c.3094A>C	c.(3094-3096)ACC>CCC	p.T1032P	TDRD1_uc001lbf.2_Missense_Mutation_p.T909P|TDRD1_uc001lbh.1_Missense_Mutation_p.T1019P|TDRD1_uc001lbi.1_Missense_Mutation_p.T1023P|TDRD1_uc001lbj.2_Missense_Mutation_p.T741P	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1032	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)										0.269231	13.487841	16.195924	14	38	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	115975884	115975884	16256	10	A	C	C	2	2	TDRD1	C	4	4
KNDC1	85442	broad.mit.edu	36	10	134877599	134877599	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:134877599A>C	uc001llz.1	+	c.4660A>C	c.(4660-4662)ACC>CCC	p.T1554P		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1554	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					ovary(1)	1		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)										0.269231	8.986775	10.347697	7	19	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	134877599	134877599	8740	10	A	C	C	10	10	KNDC1	C	4	4
FZD8	8325	broad.mit.edu	36	10	35970220	35970220	+	Nonsense_Mutation	SNP	G	T	T			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:35970220G>T	uc001iyz.1	-	c.144C>A	c.(142-144)TAC>TAA	p.Y48*		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8	48	FZ.|Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|regulation of gene-specific transcription from RNA polymerase II promoter|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0														0.217391	12.625536	16.045978	10	36	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	35970220	35970220	6387	10	G	T	T	48	48	FZD8	T	5	3
GDF10	2662	broad.mit.edu	36	10	48048721	48048721	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:48048721T>C	uc001jfb.1	-	c.1171A>G	c.(1171-1173)AAT>GAT	p.N391D	GDF10_uc009xnp.1_Missense_Mutation_p.N390D|GDF10_uc009xnq.1_Missense_Mutation_p.N391D	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	391					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2														0.166667	6.785862	9.315334	4	20	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48048721	48048721	6579	10	T	C	C	62	62	GDF10	C	4	4
C10orf18	54906	broad.mit.edu	36	10	5829178	5829178	+	Missense_Mutation	SNP	C	A	A			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:5829178C>A	uc001iij.2	+	c.3788C>A	c.(3787-3789)ACA>AAA	p.T1263K	C10orf18_uc001iik.2_Missense_Mutation_p.T107K	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1263										ovary(1)|central_nervous_system(1)	2														0.217391	8.762413	10.458164	5	18	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5829178	5829178	1633	10	C	A	A	17	17	C10orf18	A	3	3
SAMD8	142891	broad.mit.edu	36	10	76580301	76580301	+	Silent	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:76580301T>G	uc001jwx.1	+	c.9T>G	c.(7-9)GGT>GGG	p.G3G	SAMD8_uc001jwy.1_Silent_p.G3G	NM_144660	NP_653261	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	3					sphingomyelin biosynthetic process	integral to membrane					0	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)													0.285714	7.493459	9.276767	10	25	TT		KEEP	---	---	---	---	capture			Silent	SNP	76580301	76580301	14305	10	T	G	G	58	58	SAMD8	G	4	4
HIPK3	10114	broad.mit.edu	36	11	33265411	33265411	+	Missense_Mutation	SNP	G	C	C			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:33265411G>C	uc001mul.1	+	c.875G>C	c.(874-876)AGT>ACT	p.S292T	HIPK3_uc001mum.1_Missense_Mutation_p.S292T|HIPK3_uc009yjv.1_Missense_Mutation_p.S292T	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	292	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|ovary(1)|pancreas(1)	3										376				0.108974	8.172664	32.081052	17	139	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33265411	33265411	7403	11	G	C	C	36	36	HIPK3	C	3	3
LRP4	4038	broad.mit.edu	36	11	46849692	46849692	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:46849692A>C	uc001ndn.2	-	c.4652T>G	c.(4651-4653)GTC>GGC	p.V1551G		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1551	Extracellular (Potential).|LDL-receptor class B 19.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			ovary(1)	1				Lung(87;0.159)										0.222222	7.186991	8.470568	4	14	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46849692	46849692	9332	11	A	C	C	10	10	LRP4	C	4	4
TRIM22	10346	broad.mit.edu	36	11	5687067	5687067	+	Silent	SNP	C	T	T			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5687067C>T	uc001mbr.1	+	c.1110C>T	c.(1108-1110)GGC>GGT	p.G370G	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.1_Silent_p.G366G|TRIM22_uc009yeu.1_Silent_p.G181G|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	tripartite motif-containing 22	370	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|regulation of transcription, DNA-dependent|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding				0		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GBM(104;491 2336 5222)								0.384211	221.342964	223.571252	73	117	CC		KEEP	---	---	---	---	capture			Silent	SNP	5687067	5687067	17040	11	C	T	T	27	27	TRIM22	T	1	1
EML3	256364	broad.mit.edu	36	11	62127282	62127282	+	Silent	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62127282T>C	uc001ntu.1	-	c.2271A>G	c.(2269-2271)GGA>GGG	p.G757G	EML3_uc001ntr.1_Silent_p.G729G|EML3_uc001nts.1_Silent_p.G729G|EML3_uc001ntt.1_Silent_p.G641G|MTA2_uc001ntq.1_5'Flank	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	757	WD 8.					cytoplasm|microtubule	protein binding				0														0.241379	7.637943	9.487174	7	22	TT		KEEP	---	---	---	---	capture			Silent	SNP	62127282	62127282	5290	11	T	C	C	54	54	EML3	C	4	4
BBS1	582	broad.mit.edu	36	11	66045424	66045424	+	Splice_Site_SNP	SNP	G	T	T			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66045424G>T	uc001oii.1	+	c.e9_splice_site			ZDHHC24_uc001oim.1_Non-coding_Transcript|ZDHHC24_uc009yrg.1_3'UTR|BBS1_uc001oij.1_Splice_Site_SNP|BBS1_uc001oik.1_Splice_Site_SNP|BBS1_uc001oil.1_Intron	NM_024649	NP_078925			Bardet-Biedl syndrome 1						photoreceptor cell maintenance|response to stimulus|retina homeostasis|sensory cilium assembly	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						GBM(152;173 2612 9770 10137)								0.235294	12.060877	14.275626	8	26	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	66045424	66045424	1356	11	G	T	T	44	44	BBS1	T	5	3
UTP20	27340	broad.mit.edu	36	12	100235480	100235480	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:100235480A>C	uc001tia.1	+	c.2646A>C	c.(2644-2646)GAA>GAC	p.E882D		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	882					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4														0.311111	11.620641	13.310072	14	31	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100235480	100235480	17664	12	A	C	C	2	2	UTP20	C	4	4
MED13L	23389	broad.mit.edu	36	12	114883585	114883585	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:114883585A>C	uc001tvw.1	-	c.6502T>G	c.(6502-6504)TTT>GTT	p.F2168V		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2168					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		RNA polymerase II transcription mediator activity			skin(3)|ovary(1)|lung(1)	5	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)						497				0.25	12.648356	15.808241	13	39	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114883585	114883585	9820	12	A	C	C	2	2	MED13L	C	4	4
CMAS	55907	broad.mit.edu	36	12	22105491	22105491	+	Nonsense_Mutation	SNP	T	A	A			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:22105491T>A	uc001rfm.1	+	c.798T>A	c.(796-798)TAT>TAA	p.Y266*	CMAS_uc001rfn.1_Intron	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	cytidine 5'-monophosphate N-acetylneuraminic	266					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			ovary(1)|pancreas(1)	2														0.192308	7.156095	9.463474	5	21	TT		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	22105491	22105491	3713	12	T	A	A	52	52	CMAS	A	5	4
ALG10B	144245	broad.mit.edu	36	12	37000611	37000611	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:37000611T>G	uc001rln.2	+	c.751T>G	c.(751-753)TTC>GTC	p.F251V	ALG10B_uc001rlo.2_Missense_Mutation_p.F221V	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	asparagine-linked glycosylation 10 homolog B	251	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)	2	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)												0.083871	12.028984	66.542563	26	284	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37000611	37000611	515	12	T	G	G	64	64	ALG10B	G	4	4
TMEM117	84216	broad.mit.edu	36	12	42524941	42524941	+	Missense_Mutation	SNP	C	A	A			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:42524941C>A	uc001rod.1	+	c.220C>A	c.(220-222)CTT>ATT	p.L74I	TMEM117_uc001roe.1_Missense_Mutation_p.T3N|TMEM117_uc009zkc.1_Missense_Mutation_p.L74I	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	74	Helical; (Potential).					endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)										0.173913	6.585149	8.895266	4	19	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42524941	42524941	16562	12	C	A	A	20	20	TMEM117	A	3	3
MBD6	114785	broad.mit.edu	36	12	56209284	56209284	+	Nonstop_Mutation	SNP	G	C	C			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56209284G>C	uc001soj.1	+	c.3012G>C	c.(3010-3012)TAG>TAC	p.*1004Y	MBD6_uc001sok.1_Nonstop_Mutation_p.*872Y|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	1004						chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4														0.333333	8.996012	9.291215	4	8	GG		KEEP	---	---	---	---	capture			Nonstop_Mutation	SNP	56209284	56209284	9736	12	G	C	C	34	34	MBD6	C	5	3
GRIP1	23426	broad.mit.edu	36	12	65125520	65125520	+	Missense_Mutation	SNP	G	C	C			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:65125520G>C	uc001stk.1	-	c.1234C>G	c.(1234-1236)CAG>GAG	p.Q412E	GRIP1_uc001stj.1_Missense_Mutation_p.Q194E|GRIP1_uc001stl.1_Missense_Mutation_p.Q304E|GRIP1_uc001stm.1_Missense_Mutation_p.Q412E	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	464					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)										0.272727	12.304966	13.890688	9	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65125520	65125520	7066	12	G	C	C	46	46	GRIP1	C	3	3
CHD4	1108	broad.mit.edu	36	12	6562079	6562079	+	Missense_Mutation	SNP	C	A	A			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6562079C>A	uc001qpp.1	-	c.4408G>T	c.(4408-4410)GTA>TTA	p.V1470L	CHD4_uc001qpn.1_Missense_Mutation_p.V1438L|CHD4_uc001qpo.1_Missense_Mutation_p.V1445L|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1445					chromatin assembly or disassembly|chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding|zinc ion binding			central_nervous_system(2)	2						Colon(32;586 792 4568 16848 45314)								0.25	10.895462	12.50309	7	21	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6562079	6562079	3461	12	C	A	A	17	17	CHD4	A	3	3
CAND1	55832	broad.mit.edu	36	12	65961968	65961968	+	Missense_Mutation	SNP	C	A	A			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:65961968C>A	uc001stn.2	+	c.80C>A	c.(79-81)ACA>AAA	p.T27K		NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	27	HEAT 1.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)	1			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)										0.233333	8.299856	10.271516	7	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65961968	65961968	2732	12	C	A	A	17	17	CAND1	A	3	3
CD4	920	broad.mit.edu	36	12	6798325	6798325	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6798325A>C	uc001qqv.1	+	c.1330A>C	c.(1330-1332)ACC>CCC	p.T444P	CD4_uc009zfc.1_Missense_Mutation_p.T265P|GPR162_uc001qqw.1_5'Flank|GPR162_uc001qqx.1_5'Flank|GPR162_uc009zfd.1_5'Flank	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	444	Cytoplasmic (Potential).|HIV-1 Vpu-susceptibility domain.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)												0.2	8.822007	11.353807	6	24	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6798325	6798325	3142	12	A	C	C	10	10	CD4	C	4	4
KIAA0564	23078	broad.mit.edu	36	13	41171293	41171293	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:41171293T>G	uc001uyj.1	-	c.3478A>C	c.(3478-3480)ACA>CCA	p.T1160P		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1160						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)	5		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)										0.3	10.1071	10.845927	6	14	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41171293	41171293	8492	13	T	G	G	60	60	KIAA0564	G	4	4
DGKH	160851	broad.mit.edu	36	13	41632171	41632171	+	Nonsense_Mutation	SNP	G	T	T			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:41632171G>T	uc001uyl.1	+	c.754G>T	c.(754-756)GAG>TAG	p.E252*	DGKH_uc001uym.1_Nonsense_Mutation_p.E252*|DGKH_uc001uyn.1_Non-coding_Transcript|DGKH_uc001uyo.1_Nonsense_Mutation_p.E107*|DGKH_uc001uyp.2_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	252	Phorbol-ester/DAG-type 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)										0.140845	8.539837	17.538715	10	61	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	41632171	41632171	4649	13	G	T	T	45	45	DGKH	T	5	3
TSC22D1	8848	broad.mit.edu	36	13	44046234	44046234	+	Missense_Mutation	SNP	C	G	G			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:44046234C>G	uc001uzn.2	-	c.1977G>C	c.(1975-1977)CAG>CAC	p.Q659H	TSC22D1_uc001uzo.1_Intron	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	659	Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)										0.160714	8.341844	14.495021	9	47	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44046234	44046234	17158	13	C	G	G	28	28	TSC22D1	G	3	3
DIAPH3	81624	broad.mit.edu	36	13	59482796	59482796	+	Missense_Mutation	SNP	C	A	A			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:59482796C>A	uc001vht.1	-	c.780G>T	c.(778-780)TTG>TTT	p.L260F	DIAPH3_uc001vhu.1_5'UTR|DIAPH3_uc001vhw.1_Missense_Mutation_p.L249F|DIAPH3_uc010aed.1_Missense_Mutation_p.L214F|DIAPH3_uc010aee.1_Missense_Mutation_p.L190F	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	260	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)										0.208333	6.807768	8.778031	5	19	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59482796	59482796	4699	13	C	A	A	21	21	DIAPH3	A	3	3
KLHDC2	23588	broad.mit.edu	36	14	49316780	49316780	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49316780A>C	uc001wwx.1	+	c.873A>C	c.(871-873)AAA>AAC	p.K291N	SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.1_Missense_Mutation_p.K291N|KLHDC2_uc010anp.1_Missense_Mutation_p.K291N	NM_014315	NP_055130	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	291	Kelch 5.					nucleus	protein binding			ovary(1)	1	all_epithelial(31;0.000959)|Breast(41;0.0117)													0.215686	11.610899	15.663077	11	40	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49316780	49316780	8668	14	A	C	C	2	2	KLHDC2	C	4	4
ACOT4	122970	broad.mit.edu	36	14	73130324	73130324	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:73130324T>C	uc001xoo.1	+	c.623T>C	c.(622-624)TTC>TCC	p.F208S		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	peroxisomal acyl-CoA thioesterase 2B	208					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00331)										0.390625	78.155592	78.827303	25	39	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73130324	73130324	154	14	T	C	C	62	62	ACOT4	C	4	4
EIF2B2	8892	broad.mit.edu	36	14	74541271	74541271	+	Missense_Mutation	SNP	C	G	G			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74541271C>G	uc001xrc.1	+	c.512C>G	c.(511-513)TCC>TGC	p.S171C		NM_014239	NP_055054	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B,	171			S -> F (in VWM; with ovarian failure).		cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00661)										0.301471	124.229917	129.012442	41	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74541271	74541271	5190	14	C	G	G	30	30	EIF2B2	G	3	3
SLC24A4	123041	broad.mit.edu	36	14	91979498	91979498	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:91979498T>G	uc001yak.1	+	c.533T>G	c.(532-534)GTG>GGG	p.V178G	SLC24A4_uc001yai.1_Missense_Mutation_p.V131G|SLC24A4_uc001yaj.1_Missense_Mutation_p.V178G|SLC24A4_uc010auj.1_Missense_Mutation_p.V86G	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	178	Extracellular (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		NSCLC(10;315 435 10383 28450 38798)								0.191176	6.327031	12.720154	13	55	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91979498	91979498	14965	14	T	G	G	59	59	SLC24A4	G	4	4
OCA2	4948	broad.mit.edu	36	15	25905376	25905376	+	Missense_Mutation	SNP	T	A	A			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:25905376T>A	uc001zbh.2	-	c.1191A>T	c.(1189-1191)TTA>TTT	p.L397F	OCA2_uc010ayv.1_Missense_Mutation_p.L373F	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	397	Helical; (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)										0.136842	8.19837	20.423295	13	82	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25905376	25905376	11220	15	T	A	A	53	53	OCA2	A	4	4
FRMD5	84978	broad.mit.edu	36	15	41965240	41965240	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:41965240T>C	uc001ztl.1	-	c.890A>G	c.(889-891)GAG>GGG	p.E297G	FRMD5_uc001ztk.1_Missense_Mutation_p.E203G|FRMD5_uc001ztm.1_5'UTR|FRMD5_uc001ztn.1_Missense_Mutation_p.E63G|FRMD5_uc001ztj.1_5'UTR	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5 isoform 2	297	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)										0.254545	13.439728	16.628663	14	41	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41965240	41965240	6303	15	T	C	C	54	54	FRMD5	C	4	4
TRPM7	54822	broad.mit.edu	36	15	48684459	48684459	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:48684459T>C	uc001zyt.2	-	c.2884A>G	c.(2884-2886)AGA>GGA	p.R962G	TRPM7_uc010bew.1_Missense_Mutation_p.R962G|TRPM7_uc001zyu.2_Missense_Mutation_p.R520G	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	962	Extracellular (Potential).				cell death|protein phosphorylation	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|breast(1)|central_nervous_system(1)	8				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)						1796				0.152941	16.107697	25.943997	13	72	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48684459	48684459	17142	15	T	C	C	56	56	TRPM7	C	4	4
FBXL22	283807	broad.mit.edu	36	15	61676746	61676746	+	Missense_Mutation	SNP	G	T	T			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:61676746G>T	uc002amn.1	+	c.84G>T	c.(82-84)AGG>AGT	p.R28S	FBXL22_uc002amm.1_Missense_Mutation_p.R28S	NM_203373	NP_976307	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	28	F-box.										0														0.4375	61.567456	61.730789	21	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61676746	61676746	5956	15	G	T	T	41	41	FBXL22	T	3	3
AKAP13	11214	broad.mit.edu	36	15	84037513	84037513	+	Missense_Mutation	SNP	A	G	G			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:84037513A>G	uc002blu.1	+	c.5303A>G	c.(5302-5304)GAA>GGA	p.E1768G	AKAP13_uc002blv.1_Missense_Mutation_p.E1764G|AKAP13_uc010bnf.1_Missense_Mutation_p.E386G|AKAP13_uc002blw.1_Missense_Mutation_p.E231G|AKAP13_uc002blx.1_Missense_Mutation_p.E9G	NM_006738	NP_006729	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 1	1764	Potential.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|ovary(1)|liver(1)	8						Melanoma(94;603 1453 3280 32295 32951)								0.205607	7.614786	17.039338	22	85	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84037513	84037513	452	15	A	G	G	9	9	AKAP13	G	4	4
KIAA0430	9665	broad.mit.edu	36	16	15610904	15610904	+	Missense_Mutation	SNP	C	T	T			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:15610904C>T	uc002ddr.1	-	c.3931G>A	c.(3931-3933)GAA>AAA	p.E1311K	KIAA0430_uc002ddq.1_Missense_Mutation_p.E1145K	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	1310						peroxisome	nucleotide binding|RNA binding				0														0.152542	9.844138	16.673217	9	50	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15610904	15610904	8484	16	C	T	T	29	29	KIAA0430	T	2	2
SCNN1B	6338	broad.mit.edu	36	16	23298980	23298980	+	Missense_Mutation	SNP	G	C	C			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:23298980G>C	uc002dln.1	+	c.1531G>C	c.(1531-1533)GCA>CCA	p.A511P		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	511	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)									0.366667	22.59945	23.152903	11	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23298980	23298980	14410	16	G	C	C	34	34	SCNN1B	C	3	3
EARS2	124454	broad.mit.edu	36	16	23448699	23448699	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:23448699A>C	uc002dlu.2	-	c.1088T>G	c.(1087-1089)GTG>GGG	p.V363G	EARS2_uc002dlr.2_Non-coding_Transcript|EARS2_uc002dls.2_Non-coding_Transcript|EARS2_uc002dlt.2_Missense_Mutation_p.V363G	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	glutamyl tRNA synthetase 2	363					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding				0				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)									0.178571	10.988681	16.495538	10	46	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23448699	23448699	5064	16	A	C	C	6	6	EARS2	C	4	4
RBBP6	5930	broad.mit.edu	36	16	24487594	24487594	+	Silent	SNP	G	A	A			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:24487594G>A	uc002dmh.1	+	c.2082G>A	c.(2080-2082)TCG>TCA	p.S694S	RBBP6_uc002dmi.1_Silent_p.S660S|RBBP6_uc010bxr.1_Intron|RBBP6_uc002dmk.1_Silent_p.S527S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	694					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)										0.482759	46.049429	46.056884	14	15	GG		KEEP	---	---	---	---	capture			Silent	SNP	24487594	24487594	13564	16	G	A	A	40	40	RBBP6	A	1	1
TNRC6A	27327	broad.mit.edu	36	16	24696134	24696134	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:24696134A>C	uc002dmm.1	+	c.543A>C	c.(541-543)CAA>CAC	p.Q181H	TNRC6A_uc010bxs.1_5'UTR	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	181					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)										0.294118	6.694265	7.39182	5	12	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24696134	24696134	16881	16	A	C	C	2	2	TNRC6A	C	4	4
SRCAP	10847	broad.mit.edu	36	16	30639127	30639127	+	Silent	SNP	C	A	A			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30639127C>A	uc002dze.1	+	c.2961C>A	c.(2959-2961)CCC>CCA	p.P987P	SRCAP_uc002dzf.2_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.P844P|SRCAP_uc010bzz.1_Silent_p.P557P	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	987	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)	3			Colorectal(24;0.198)											0.178947	9.418359	19.004489	17	78	CC		KEEP	---	---	---	---	capture			Silent	SNP	30639127	30639127	15649	16	C	A	A	21	21	SRCAP	A	3	3
DHX38	9785	broad.mit.edu	36	16	70697483	70697483	+	Missense_Mutation	SNP	C	G	G			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:70697483C>G	uc002fcb.1	+	c.2566C>G	c.(2566-2568)CGA>GGA	p.R856G		NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	856	Helicase C-terminal.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0		Ovarian(137;0.125)				Melanoma(97;711 1442 7855 13832 28836)								0.297297	12.654476	14.122991	11	26	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70697483	70697483	4690	16	C	G	G	27	27	DHX38	G	3	3
ZCCHC14	23174	broad.mit.edu	36	16	86003711	86003711	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:86003711T>G	uc002fjz.1	-	c.1706A>C	c.(1705-1707)CAC>CCC	p.H569P	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.2_Missense_Mutation_p.H345P	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	569					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0285)										0.234375	8.783186	13.380077	15	49	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86003711	86003711	18171	16	T	G	G	59	59	ZCCHC14	G	4	4
ZC3H18	124245	broad.mit.edu	36	16	87180572	87180572	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:87180572A>C	uc002fky.1	+	c.667A>C	c.(667-669)ACC>CCC	p.T223P	ZC3H18_uc002fkx.1_Missense_Mutation_p.T223P	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	223	C3H1-type.					nucleus	nucleic acid binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0542)		Ovarian(121;375 2276 20373 38669)								0.25641	8.380342	10.719194	10	29	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87180572	87180572	18156	16	A	C	C	6	6	ZC3H18	C	4	4
MYH3	4621	broad.mit.edu	36	17	10495662	10495662	+	Missense_Mutation	SNP	G	C	C			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10495662G>C	uc002gmq.1	-	c.397C>G	c.(397-399)CCG>GCG	p.P133A		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	133	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(1)|pancreas(1)	6														0.193182	9.857441	17.862489	17	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10495662	10495662	10431	17	G	C	C	42	42	MYH3	C	3	3
MYO15A	51168	broad.mit.edu	36	17	17963862	17963862	+	Nonsense_Mutation	SNP	C	A	A			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17963862C>A	uc010cpt.1	+	c.1023C>A	c.(1021-1023)TAC>TAA	p.Y341*	MYO15A_uc010cpu.1_Nonsense_Mutation_p.Y341*	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	341	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	6.781526	7.710952	4	12	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	17963862	17963862	10458	17	C	A	A	20	20	MYO15A	A	5	3
MYO15A	51168	broad.mit.edu	36	17	17982188	17982188	+	Missense_Mutation	SNP	A	G	G			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17982188A>G	uc010cpt.1	+	c.4910A>G	c.(4909-4911)GAG>GGG	p.E1637G	MYO15A_uc010cpu.1_Missense_Mutation_p.E1637G	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1637	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)													0.217391	6.483994	8.282482	5	18	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17982188	17982188	10458	17	A	G	G	11	11	MYO15A	G	4	4
MNT	4335	broad.mit.edu	36	17	2237248	2237248	+	Silent	SNP	C	G	G			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:2237248C>G	uc002fur.1	-	c.1446G>C	c.(1444-1446)GCG>GCC	p.A482A		NM_020310	NP_064706	Q99583	MNT_HUMAN	MAX binding protein	482					multicellular organismal development|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulator activity				0				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)										0.35	7.447896	7.921267	7	13	CC		KEEP	---	---	---	---	capture			Silent	SNP	2237248	2237248	10069	17	C	G	G	27	27	MNT	G	3	3
SUPT6H	6830	broad.mit.edu	36	17	24048199	24048199	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24048199T>G	uc002hby.1	+	c.4181T>G	c.(4180-4182)CTG>CGG	p.L1394R	SUPT6H_uc010crt.1_Missense_Mutation_p.L1394R	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1394	SH2.				chromatin remodeling|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity|transcription elongation regulator activity			ovary(2)	2	Lung NSC(42;0.00431)													0.177419	18.996725	25.087498	11	51	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24048199	24048199	15920	17	T	G	G	55	55	SUPT6H	G	4	4
SSH2	85464	broad.mit.edu	36	17	24999394	24999394	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24999394T>C	uc002heo.1	-	c.1240A>G	c.(1240-1242)AAT>GAT	p.N414D	SSH2_uc002hep.1_Missense_Mutation_p.N414D	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	414	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0														0.287356	48.122224	51.819568	25	62	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24999394	24999394	15701	17	T	C	C	62	62	SSH2	C	4	4
NR1D1	9572	broad.mit.edu	36	17	35507147	35507147	+	Missense_Mutation	SNP	A	G	G			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35507147A>G	uc002htz.1	-	c.67T>C	c.(67-69)TCC>CCC	p.S23P	NR1D1_uc010cwq.1_Non-coding_Transcript|NR1D1_uc010cwr.1_5'Flank	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	23					cellular response to lipopolysaccharide|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	promoter binding|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)													0.5	7.423592	7.423592	3	3	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35507147	35507147	11020	17	A	G	G	11	11	NR1D1	G	4	4
RARA	5914	broad.mit.edu	36	17	35741165	35741165	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35741165T>C	uc002hum.1	+	c.169T>C	c.(169-171)TCC>CCC	p.S57P	RARA_uc002huk.1_Missense_Mutation_p.S57P|RARA_uc002hul.2_Missense_Mutation_p.S57P	NM_000964	NP_000955	P10276	RARA_HUMAN	retinoic acid receptor, alpha isoform 1	57	Modulating.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of gene-specific transcription|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene-specific transcription|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cell surface|cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription activator activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)					272				0.2	8.592629	10.263986	4	16	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35741165	35741165	13512	17	T	C	C	50	50	RARA	C	4	4
KRT23	25984	broad.mit.edu	36	17	36341222	36341222	+	Silent	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36341222A>C	uc002hvm.1	-	c.408T>G	c.(406-408)GGT>GGG	p.G136G	KRT23_uc010cxf.1_5'UTR|KRT23_uc010cxg.1_Silent_p.G136G|KRT23_uc002hvn.1_Silent_p.G136G	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	136	Rod.|Coil 1B.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)												0.3	23.123475	25.845738	21	49	AA		KEEP	---	---	---	---	capture			Silent	SNP	36341222	36341222	8775	17	A	C	C	14	14	KRT23	C	4	4
KRT17	3872	broad.mit.edu	36	17	37032288	37032288	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37032288A>C	uc002hxh.1	-	c.517T>G	c.(517-519)TTT>GTT	p.F173V		NM_000422	NP_000413	Q04695	K1C17_HUMAN	keratin 17	173	Coil 1B.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2		Breast(137;0.000307)				Pancreas(92;1242 2086 39193 50508)								0.444444	8.637305	8.669607	4	5	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37032288	37032288	8769	17	A	C	C	2	2	KRT17	C	4	4
MAP3K14	9020	broad.mit.edu	36	17	40707733	40707733	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40707733T>C	uc002iiw.1	-	c.1301A>G	c.(1300-1302)GAA>GGA	p.E434G	MAP3K14_uc002iiu.1_5'Flank|MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_Missense_Mutation_p.E18G	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	434	Interaction with ZFP91.|Protein kinase.				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein phosphorylation|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|ovary(1)|lung(1)	5										697				0.1875	7.438069	10.368929	6	26	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40707733	40707733	9631	17	T	C	C	62	62	MAP3K14	C	4	4
MYBBP1A	10514	broad.mit.edu	36	17	4402605	4402605	+	Silent	SNP	G	A	A			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4402605G>A	uc002fxz.2	-	c.627C>T	c.(625-627)CTC>CTT	p.L209L	MYBBP1A_uc002fyb.2_Silent_p.L209L	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 1	209	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2														0.173913	6.78287	9.096627	4	19	GG		KEEP	---	---	---	---	capture			Silent	SNP	4402605	4402605	10403	17	G	A	A	45	45	MYBBP1A	A	2	2
CSH2	1443	broad.mit.edu	36	17	59303246	59303246	+	Missense_Mutation	SNP	C	T	T			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59303246C>T	uc002jch.1	-	c.626G>A	c.(625-627)CGC>CAC	p.R209H	CSH2_uc002jcg.1_Missense_Mutation_p.R114H|CSH2_uc002jci.1_3'UTR|GH2_uc002jcj.1_Missense_Mutation_p.A208T|CSH2_uc002jck.1_Missense_Mutation_p.R209H	NM_020991	NP_066271	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2 isoform 1	209					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding				0														0.485714	310.728171	310.765786	102	108	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59303246	59303246	4082	17	C	T	T	27	27	CSH2	T	1	1
CSH2	1443	broad.mit.edu	36	17	59304367	59304367	+	Silent	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59304367A>C	uc002jch.1	-	c.75T>G	c.(73-75)GGT>GGG	p.G25G	CSH2_uc002jcg.1_Silent_p.G25G|CSH2_uc002jci.1_Silent_p.G25G|GH2_uc002jcj.1_Intron|CSH2_uc002jck.1_Silent_p.G25G	NM_020991	NP_066271	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2 isoform 1	25					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding				0														0.2	6.630344	9.292193	6	24	AA		KEEP	---	---	---	---	capture			Silent	SNP	59304367	59304367	4082	17	A	C	C	6	6	CSH2	C	4	4
EIF4A3	9775	broad.mit.edu	36	17	75725883	75725883	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75725883T>C	uc002jxs.1	-	c.880A>G	c.(880-882)ACG>GCG	p.T294A		NM_014740	NP_055555	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A,	294	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)											0.3125	7.527408	8.053798	5	11	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75725883	75725883	5217	17	T	C	C	58	58	EIF4A3	C	4	4
GATA6	2627	broad.mit.edu	36	18	18015486	18015486	+	Silent	SNP	C	T	T			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:18015486C>T	uc002ktt.1	+	c.1377C>T	c.(1375-1377)GCC>GCT	p.A459A	GATA6_uc002ktu.1_Silent_p.A459A	NM_005257	NP_005248	Q92908	GATA6_HUMAN	GATA binding protein 6	459	GATA-type 2.				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|gene-specific transcription from RNA polymerase II promoter|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of gene-specific transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		promoter binding|protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription repressor activity|zinc ion binding			central_nervous_system(3)	3	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)								0.520833	169.85507	169.891398	50	46	CC		KEEP	---	---	---	---	capture			Silent	SNP	18015486	18015486	6522	18	C	T	T	23	23	GATA6	T	1	1
KIAA1632	57724	broad.mit.edu	36	18	41742016	41742016	+	Missense_Mutation	SNP	C	T	T			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:41742016C>T	uc002lbm.1	-	c.4234G>A	c.(4234-4236)GAA>AAA	p.E1412K	KIAA1632_uc002lbn.1_Missense_Mutation_p.E287K|KIAA1632_uc002lbo.1_Missense_Mutation_p.E1412K	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1412					autophagy						0														0.294118	35.031916	37.643082	20	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41742016	41742016	8558	18	C	T	T	32	32	KIAA1632	T	2	2
CDH7	1005	broad.mit.edu	36	18	61628066	61628066	+	Silent	SNP	G	A	A			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:61628066G>A	uc002ljz.1	+	c.357G>A	c.(355-357)ACG>ACA	p.T119T	CDH7_uc002lka.2_Silent_p.T119T|CDH7_uc002lkb.1_Silent_p.T119T	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	119	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.129)												0.336449	100.665034	103.197893	36	71	GG		KEEP	---	---	---	---	capture			Silent	SNP	61628066	61628066	3244	18	G	A	A	38	38	CDH7	A	1	1
NOTCH3	4854	broad.mit.edu	36	19	15160058	15160058	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15160058T>G	uc002nan.1	-	c.1480A>C	c.(1480-1482)ACC>CCC	p.T494P	NOTCH3_uc002nao.1_Missense_Mutation_p.T494P	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3	494	Extracellular (Potential).|EGF-like 12; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			ovary(5)|lung(2)|central_nervous_system(1)	8			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)							417				0.357143	7.423603	7.694523	5	9	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15160058	15160058	10953	19	T	G	G	59	59	NOTCH3	G	4	4
ANKRD27	84079	broad.mit.edu	36	19	37814213	37814213	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:37814213A>C	uc002ntn.1	-	c.1144T>G	c.(1144-1146)TTC>GTC	p.F382V		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	382					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(110;0.137)													0.233333	6.48825	8.581007	7	23	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37814213	37814213	660	19	A	C	C	2	2	ANKRD27	C	4	4
FBXO27	126433	broad.mit.edu	36	19	44213779	44213779	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44213779A>C	uc002okh.1	-	c.386T>G	c.(385-387)GTG>GGG	p.V129G		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	F-box protein 27	129	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			ovary(1)	1	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)											0.333333	14.472279	15.24442	10	20	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44213779	44213779	5974	19	A	C	C	6	6	FBXO27	C	4	4
DYRK1B	9149	broad.mit.edu	36	19	45008749	45008749	+	Missense_Mutation	SNP	A	G	G			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45008749A>G	uc002omj.1	-	c.1429T>C	c.(1429-1431)TCC>CCC	p.S477P	DYRK1B_uc002omi.1_Missense_Mutation_p.S449P|DYRK1B_uc002omk.1_Missense_Mutation_p.S437P	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	477					positive regulation of transcription, DNA-dependent|protein phosphorylation	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|central_nervous_system(1)|skin(1)	6	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)							105				0.4	8.488655	8.578344	4	6	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45008749	45008749	5041	19	A	G	G	11	11	DYRK1B	G	4	4
CADM4	199731	broad.mit.edu	36	19	48822279	48822279	+	Silent	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:48822279T>C	uc002oxc.1	-	c.501A>G	c.(499-501)GGA>GGG	p.G167G		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	167	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion	integral to membrane					0		Prostate(69;0.0199)												0.173913	12.67243	19.772938	12	57	TT		KEEP	---	---	---	---	capture			Silent	SNP	48822279	48822279	2685	19	T	C	C	54	54	CADM4	C	4	4
GEMIN7	79760	broad.mit.edu	36	19	50285598	50285598	+	Missense_Mutation	SNP	T	A	A			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50285598T>A	uc002pap.1	+	c.386T>A	c.(385-387)TTC>TAC	p.F129Y	GEMIN7_uc002paq.1_Missense_Mutation_p.F129Y|GEMIN7_uc002par.1_Missense_Mutation_p.F129Y|GEMIN7_uc010ejw.1_Missense_Mutation_p.F129Y	NM_001007270	NP_078983	Q9H840	GEMI7_HUMAN	gemin 7	129					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)										0.153846	9.060952	13.501566	6	33	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50285598	50285598	6601	19	T	A	A	62	62	GEMIN7	A	4	4
RSPH6A	81492	broad.mit.edu	36	19	50991174	50991174	+	Silent	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50991174A>C	uc002pdm.1	-	c.1947T>G	c.(1945-1947)GGT>GGG	p.G649G	RSPH6A_uc002pdl.1_Silent_p.G385G	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	649	Glu-rich.					intracellular				ovary(1)|central_nervous_system(1)	2														0.363636	7.689527	7.872239	4	7	AA		KEEP	---	---	---	---	capture			Silent	SNP	50991174	50991174	14187	19	A	C	C	10	10	RSPH6A	C	4	4
AP2S1	1175	broad.mit.edu	36	19	52033610	52033610	+	Silent	SNP	G	C	C			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:52033610G>C	uc002pft.1	-	c.363C>G	c.(361-363)GGC>GGG	p.G121G	AP2S1_uc002pfu.1_Silent_p.G83G	NM_004069	NP_004060	P53680	AP2S1_HUMAN	adaptor-related protein complex 2, sigma 1	121					axon guidance|clathrin coat assembly|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|regulation of endocytosis|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	protein transporter activity				0		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)										0.26087	6.933073	8.224324	6	17	GG		KEEP	---	---	---	---	capture			Silent	SNP	52033610	52033610	753	19	G	C	C	38	38	AP2S1	C	3	3
CCDC114	93233	broad.mit.edu	36	19	53498805	53498805	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53498805A>C	uc002pir.1	-	c.791T>G	c.(790-792)GTG>GGG	p.V264G	CCDC114_uc002pip.1_Missense_Mutation_p.V57G|CCDC114_uc002piq.1_Missense_Mutation_p.V57G|CCDC114_uc002pio.2_Missense_Mutation_p.V301G|CCDC114_uc002pis.1_5'Flank|CCDC114_uc002pit.1_Missense_Mutation_p.V301G|CCDC114_uc002piu.1_Missense_Mutation_p.V301G	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	264										ovary(1)	1		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)										0.666667	11.598438	11.74509	4	2	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53498805	53498805	2871	19	A	C	C	6	6	CCDC114	C	4	4
GRIN2D	2906	broad.mit.edu	36	19	53637245	53637245	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53637245T>G	uc002pjc.2	+	c.2467T>G	c.(2467-2469)TGG>GGG	p.W823G	GRIN2D_uc010elx.1_Missense_Mutation_p.W58G	NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	823	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)									0.333333	7.28476	7.869588	7	14	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53637245	53637245	7061	19	T	G	G	59	59	GRIN2D	G	4	4
ZNF274	10782	broad.mit.edu	36	19	63414766	63414766	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63414766T>G	uc002qrq.1	+	c.881T>G	c.(880-882)GTG>GGG	p.V294G	ZNF274_uc002qrr.1_Missense_Mutation_p.V262G|ZNF274_uc002qrs.1_Missense_Mutation_p.V189G|ZNF274_uc010eum.1_Missense_Mutation_p.V53G	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	294	KRAB 2.				regulation of transcription, DNA-dependent|viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)										0.257143	8.903897	10.92306	9	26	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63414766	63414766	18401	19	T	G	G	59	59	ZNF274	G	4	4
LPPR3	79948	broad.mit.edu	36	19	766835	766835	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:766835G>A	uc002lpw.1	-	c.92C>T	c.(91-93)TCT>TTT	p.S31F	LPPR3_uc010dru.1_5'Flank|LPPR3_uc002lpx.1_Missense_Mutation_p.S31F|LPPR3_uc002lpy.1_5'UTR	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	plasticity-related protein 2	31	Helical; (Potential).					integral to membrane	phosphatidate phosphatase activity				0														0.208333	6.36653	8.259485	5	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	766835	766835	9299	19	G	A	A	33	33	LPPR3	A	2	2
WDR47	22911	broad.mit.edu	36	1	109348824	109348824	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109348824A>C	uc001dwi.1	-	c.1170T>G	c.(1168-1170)AGT>AGG	p.S390R	WDR47_uc001dwj.1_Missense_Mutation_p.S389R|WDR47_uc001dwk.1_Missense_Mutation_p.S361R|WDR47_uc001dwl.1_Missense_Mutation_p.S397R	NM_014969	NP_055784	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 2	389										ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)										0.25	9.260889	11.204364	8	24	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	109348824	109348824	17873	1	A	C	C	6	6	WDR47	C	4	4
CDC42SE1	56882	broad.mit.edu	36	1	149294786	149294786	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149294786T>G	uc001ewo.1	-	c.45A>C	c.(43-45)AAA>AAC	p.K15N	CDC42SE1_uc001ewp.1_Missense_Mutation_p.K15N	NM_001038707	NP_064624	Q9NRR8	C42S1_HUMAN	CDC42 small effector 1	15					phagocytosis|regulation of cell shape|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase inhibitor activity				0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)											0.171429	8.341335	12.072895	6	29	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	149294786	149294786	3208	1	T	G	G	60	60	CDC42SE1	G	4	4
NPR1	4881	broad.mit.edu	36	1	151918882	151918882	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151918882T>C	uc001fcs.2	+	c.674T>C	c.(673-675)CTC>CCC	p.L225P		NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	225	Extracellular (Potential).				diuresis|intracellular signal transduction|natriuresis|negative regulation of angiogenesis|negative regulation of cell growth|protein phosphorylation|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	integral to plasma membrane	ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|breast(1)	6	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	Pancreas(141;1349 1870 15144 15830 40702)				382				0.666667	6.449659	6.584155	4	2	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	151918882	151918882	10999	1	T	C	C	54	54	NPR1	C	4	4
NTRK1	4914	broad.mit.edu	36	1	155116416	155116416	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:155116416T>G	uc001fqh.1	+	c.2048T>G	c.(2047-2049)GTG>GGG	p.V683G	NTRK1_uc001fqf.1_Missense_Mutation_p.V647G|NTRK1_uc009wsi.1_Missense_Mutation_p.V382G|NTRK1_uc001fqi.1_Missense_Mutation_p.V677G|NTRK1_uc009wsk.1_Missense_Mutation_p.V680G	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	683	Cytoplasmic (Potential).|Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|stomach(1)|central_nervous_system(1)	16	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)					290	TSP Lung(10;0.080)			0.388889	20.674833	21.143876	14	22	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	155116416	155116416	11111	1	T	G	G	59	59	NTRK1	G	4	4
OR6N1	128372	broad.mit.edu	36	1	157002316	157002316	+	Nonsense_Mutation	SNP	G	A	A			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:157002316G>A	uc001fsx.1	-	c.781C>T	c.(781-783)CAG>TAG	p.Q261*		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.25	37.895045	41.3049	15	45	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	157002316	157002316	11616	1	G	A	A	46	46	OR6N1	A	5	2
FAM5B	57795	broad.mit.edu	36	1	175516265	175516265	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:175516265A>C	uc001glf.1	+	c.1330A>C	c.(1330-1332)ACC>CCC	p.T444P	FAM5B_uc001glg.1_Missense_Mutation_p.T339P	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	444						extracellular region				ovary(2)	2														0.25	16.591339	19.807043	13	39	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	175516265	175516265	5816	1	A	C	C	6	6	FAM5B	C	4	4
NPHS2	7827	broad.mit.edu	36	1	177800513	177800513	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:177800513G>A	uc001gmq.2	-	c.313C>T	c.(313-315)CTT>TTT	p.L105F	NPHS2_uc009wxi.1_Missense_Mutation_p.L105F	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	podocin	105					excretion	integral to plasma membrane	protein binding				0														0.318182	10.18425	10.84965	7	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	177800513	177800513	10987	1	G	A	A	33	33	NPHS2	A	2	2
NPL	80896	broad.mit.edu	36	1	181052516	181052516	+	Missense_Mutation	SNP	G	C	C			TCGA-14-1451-01	TCGA-14-1451-01	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														0.264706	11.910367	13.753996	9	25	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	181052516	181052516	10990	1	G	C	C	46	46	NPL	C	3	3
ASPM	259266	broad.mit.edu	36	1	195364413	195364414	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-14-1451-01	TCGA-14-1451-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:195364413_195364414AC>TT	uc001gtu.1	-	c.2765_2766GT>AA	c.(2764-2766)AGT>AAA	p.S922K	ASPM_uc001gtv.1_Missense_Mutation_p.S922K|ASPM_uc001gtw.2_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	922	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.263158	11.459451	13.455052	10	28	AA		KEEP	---	---	---	---	capture			Missense_Mutation	DNP	195364413	195364414	1075	1	AC	TT	TT	14	14	ASPM	TT	4	4
KDM5B	10765	broad.mit.edu	36	1	200991181	200991181	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200991181T>C	uc009xag.1	-	c.1487A>G	c.(1486-1488)AAT>AGT	p.N496S	KDM5B_uc001gyf.1_Missense_Mutation_p.N460S|KDM5B_uc001gyg.1_Missense_Mutation_p.N302S	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	460	JmjC.				negative regulation of transcription, DNA-dependent|oxidation-reduction process	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5														0.170213	8.572455	13.430654	8	39	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	200991181	200991181	8440	1	T	C	C	52	52	KDM5B	C	4	4
DDOST	1650	broad.mit.edu	36	1	20860439	20860439	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:20860439T>C	uc009vpw.1	-	c.43A>G	c.(43-45)AGG>GGG	p.R15G	DDOST_uc001bdo.1_Missense_Mutation_p.R15G	NM_005216	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide-protein	15					innate immune response|post-translational protein modification|protein N-linked glycosylation via asparagine|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)								OREG0013196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.571429	6.458405	6.484155	4	3	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20860439	20860439	4506	1	T	C	C	54	54	DDOST	C	4	4
KIF17	57576	broad.mit.edu	36	1	20908809	20908809	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:20908809T>C	uc001bdr.2	-	c.580A>G	c.(580-582)AAG>GAG	p.K194E	KIF17_uc001bds.2_Missense_Mutation_p.K194E	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	194	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)	3		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)										0.190476	11.458203	15.256934	8	34	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20908809	20908809	8590	1	T	C	C	62	62	KIF17	C	4	4
BPNT1	10380	broad.mit.edu	36	1	218307289	218307289	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:218307289T>G	uc001hma.1	-	c.452A>C	c.(451-453)AAC>ACC	p.N151T	BPNT1_uc009xdu.1_Missense_Mutation_p.N151T|BPNT1_uc001hmb.2_Missense_Mutation_p.N151T	NM_006085	NP_006076	O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	151					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0558)										0.4	8.350143	8.44992	4	6	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	218307289	218307289	1522	1	T	G	G	60	60	BPNT1	G	4	4
HSPG2	3339	broad.mit.edu	36	1	22056116	22056116	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22056116T>G	uc009vqd.1	-	c.5557A>C	c.(5557-5559)ACA>CCA	p.T1853P	HSPG2_uc001bfj.1_Missense_Mutation_p.T1852P	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1852	Ig-like C2-type 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)	8		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)									0.235294	11.150218	14.561175	12	39	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22056116	22056116	7730	1	T	G	G	59	59	HSPG2	G	4	4
ZNF678	339500	broad.mit.edu	36	1	225909584	225909584	+	Missense_Mutation	SNP	G	T	T			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:225909584G>T	uc001hqw.1	+	c.1010G>T	c.(1009-1011)AGT>ATT	p.S337I	ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	NM_178549	NP_848644			zinc finger protein 678											pancreas(1)	1		Prostate(94;0.0885)												0.2	8.187579	9.863182	4	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	225909584	225909584	18680	1	G	T	T	36	36	ZNF678	T	3	3
PGBD5	79605	broad.mit.edu	36	1	228535391	228535391	+	Missense_Mutation	SNP	C	A	A			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:228535391C>A	uc001htv.1	-	c.1185G>T	c.(1183-1185)TTG>TTT	p.L395F		NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	296						integral to membrane				ovary(2)|central_nervous_system(1)	3	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)										0.206897	6.606745	8.955453	6	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	228535391	228535391	12207	1	C	A	A	25	25	PGBD5	A	3	3
ZNF669	79862	broad.mit.edu	36	1	245332010	245332010	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245332010A>C	uc001ice.1	-	c.290T>G	c.(289-291)GTG>GGG	p.V97G	ZNF669_uc001icf.1_Missense_Mutation_p.V11G	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	zinc finger protein 669 isoform 1	97	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)											0.411765	12.398295	12.518841	7	10	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	245332010	245332010	18671	1	A	C	C	6	6	ZNF669	C	4	4
OR2M5	127059	broad.mit.edu	36	1	246375950	246375950	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246375950G>A	uc001idz.1	+	c.878G>A	c.(877-879)CGC>CAC	p.R293H		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	293	Cytoplasmic (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)											0.27551	73.784755	78.230651	27	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	246375950	246375950	11419	1	G	A	A	38	38	OR2M5	A	1	1
MAP3K6	9064	broad.mit.edu	36	1	27559879	27559879	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27559879A>C	uc001bny.1	-	c.1958T>G	c.(1957-1959)GTG>GGG	p.V653G	MAP3K6_uc009vsw.1_Missense_Mutation_p.V645G|MAP3K6_uc001bnz.1_Missense_Mutation_p.V176G	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	653	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)						422				0.571429	6.348794	6.373197	4	3	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27559879	27559879	9637	1	A	C	C	6	6	MAP3K6	C	4	4
EYA3	2140	broad.mit.edu	36	1	28234747	28234747	+	Missense_Mutation	SNP	A	T	T			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:28234747A>T	uc001bpi.1	-	c.256T>A	c.(256-258)TCG>ACG	p.S86T	EYA3_uc001bpj.2_Missense_Mutation_p.S86T|EYA3_uc001bpk.1_Non-coding_Transcript	NM_001990	NP_001981	Q99504	EYA3_HUMAN	eyes absent 3	86					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			ovary(2)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)										0.439153	238.494752	239.103991	83	106	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28234747	28234747	5524	1	A	T	T	9	9	EYA3	T	4	4
COL16A1	1307	broad.mit.edu	36	1	31933960	31933960	+	Missense_Mutation	SNP	C	G	G			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:31933960C>G	uc001btk.1	-	c.934G>C	c.(934-936)GCA>CCA	p.A312P	COL16A1_uc001btj.1_Missense_Mutation_p.A141P|COL16A1_uc001btl.2_Missense_Mutation_p.A312P	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	312	Nonhelical region 10 (NC10).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		Colon(143;498 1786 21362 25193 36625)								0.375	7.368225	7.460393	3	5	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31933960	31933960	3811	1	C	G	G	28	28	COL16A1	G	3	3
EIF2C3	192669	broad.mit.edu	36	1	36247684	36247684	+	Missense_Mutation	SNP	C	G	G			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:36247684C>G	uc001bzp.1	+	c.1051C>G	c.(1051-1053)CAA>GAA	p.Q351E	EIF2C3_uc001bzq.1_Missense_Mutation_p.Q117E	NM_024852	NP_803171	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	351					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)								0.363636	7.959989	8.154103	4	7	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36247684	36247684	5196	1	C	G	G	25	25	EIF2C3	G	3	3
EBNA1BP2	10969	broad.mit.edu	36	1	43405173	43405173	+	Silent	SNP	G	A	A	rs58042984	unknown	TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43405173G>A	uc001cio.1	-	c.783C>T	c.(781-783)TTC>TTT	p.F261F	EBNA1BP2_uc001cim.1_Silent_p.F101F|EBNA1BP2_uc001cin.1_Silent_p.F206F	NM_006824	NP_006815	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	206					ribosome biogenesis	membrane fraction|nucleolus	protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.25	34.936865	42.525377	32	96	GG		KEEP	---	---	---	---	capture			Silent	SNP	43405173	43405173	5072	1	G	A	A	33	33	EBNA1BP2	A	2	2
HECTD3	79654	broad.mit.edu	36	1	45244330	45244330	+	Missense_Mutation	SNP	A	G	G			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45244330A>G	uc009vxk.1	-	c.1771T>C	c.(1771-1773)TCC>CCC	p.S591P	HECTD3_uc001cmx.2_5'Flank|HECTD3_uc001cmy.2_Missense_Mutation_p.S201P	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	591	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex|perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)													0.357143	26.378366	27.511447	20	36	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45244330	45244330	7324	1	A	G	G	11	11	HECTD3	G	4	4
CHD5	26038	broad.mit.edu	36	1	6118042	6118042	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6118042T>C	uc001amb.1	-	c.2705A>G	c.(2704-2706)GAG>GGG	p.E902G	CHD5_uc001ama.1_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript|CHD5_uc009vlx.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	902					chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|ovary(1)|lung(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)						2304				0.666667	6.451338	6.524528	2	1	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6118042	6118042	3462	1	T	C	C	54	54	CHD5	C	4	4
GGTLC1	92086	broad.mit.edu	36	20	23914735	23914735	+	Silent	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:23914735T>G	uc002wts.1	-	c.282A>C	c.(280-282)TCA>TCC	p.S94S	GGTLC1_uc002wtt.1_Silent_p.S94S|GGTLC1_uc002wtu.1_Silent_p.S94S	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	94							gamma-glutamyltransferase activity			ovary(1)	1														0.190476	10.492365	16.412818	12	51	TT		KEEP	---	---	---	---	capture			Silent	SNP	23914735	23914735	6633	20	T	G	G	59	59	GGTLC1	G	4	4
E2F1	1869	broad.mit.edu	36	20	31728603	31728603	+	Silent	SNP	A	G	G			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:31728603A>G	uc002wzu.2	-	c.1035T>C	c.(1033-1035)GAT>GAC	p.D345D	NECAB3_uc002wzm.2_5'Flank|NECAB3_uc002wzn.2_5'Flank|NECAB3_uc002wzo.2_5'Flank|NECAB3_uc002wzp.2_5'Flank|NECAB3_uc002wzq.2_5'Flank|NECAB3_uc002wzr.2_5'Flank|NECAB3_uc010geo.1_5'Flank|E2F1_uc010gep.1_Silent_p.D85D	NM_005225	NP_005216	Q01094	E2F1_HUMAN	E2F transcription factor 1	345	Required for interaction with TRIM28.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription corepressor activity|transcription factor binding				0										66				0.153846	11.391305	19.117678	10	55	AA		KEEP	---	---	---	---	capture			Silent	SNP	31728603	31728603	5052	20	A	G	G	12	12	E2F1	G	4	4
WFDC3	140686	broad.mit.edu	36	20	43839152	43839152	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43839152A>C	uc002xpf.1	-	c.462T>G	c.(460-462)TGT>TGG	p.C154W	WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Intron|WFDC3_uc010ghh.1_Intron	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3 precursor	154	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)												0.2	8.788748	12.654528	9	36	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43839152	43839152	17927	20	A	C	C	6	6	WFDC3	C	4	4
DGCR14	8220	broad.mit.edu	36	22	17507527	17507527	+	Silent	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:17507527T>C	uc002zou.1	-	c.411A>G	c.(409-411)GGA>GGG	p.G137G	DGCR14_uc002zot.1_Silent_p.G58G|DGCR14_uc002zov.1_Non-coding_Transcript	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region protein 14	137					nervous system development|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome				ovary(1)	1	Colorectal(54;0.0993)									49				0.380952	7.552103	7.858413	8	13	TT		KEEP	---	---	---	---	capture			Silent	SNP	17507527	17507527	4639	22	T	C	C	54	54	DGCR14	C	4	4
TXNRD2	10587	broad.mit.edu	36	22	18286410	18286410	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:18286410T>C	uc002zqk.1	-	c.347A>G	c.(346-348)GAG>GGG	p.E116G	TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqm.1_Non-coding_Transcript|TXNRD2_uc002zqn.1_Non-coding_Transcript|TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zql.1_5'UTR|TXNRD2_uc002zqp.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Missense_Mutation_p.E115G|TXNRD2_uc002zqs.2_Missense_Mutation_p.E84G|TXNRD2_uc010grv.1_Missense_Mutation_p.E116G	NM_006440		Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor	116					cell redox homeostasis|oxidation-reduction process|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)													0.416667	8.437227	8.516532	5	7	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18286410	18286410	17364	22	T	C	C	54	54	TXNRD2	C	4	4
TOP3B	8940	broad.mit.edu	36	22	20647135	20647135	+	Silent	SNP	C	T	T			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:20647135C>T	uc002zvs.1	-	c.1335G>A	c.(1333-1335)AAG>AAA	p.K445K	TOP3B_uc002zvt.2_Silent_p.K445K|TOP3B_uc010gtl.1_Silent_p.K445K|TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_Silent_p.K170K	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	445					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)										0.235294	9.590798	10.680652	4	13	CC		KEEP	---	---	---	---	capture			Silent	SNP	20647135	20647135	16910	22	C	T	T	32	32	TOP3B	T	2	2
TFIP11	24144	broad.mit.edu	36	22	25222200	25222200	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:25222200A>C	uc003acr.1	-	c.1688T>G	c.(1687-1689)CTG>CGG	p.L563R	TFIP11_uc003acq.1_5'Flank|TFIP11_uc003acs.1_Missense_Mutation_p.L563R|TFIP11_uc003act.1_Missense_Mutation_p.L563R	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	563					biomineral tissue development|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0														0.181818	8.900115	10.982018	4	18	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25222200	25222200	16335	22	A	C	C	7	7	TFIP11	C	4	4
CREG2	200407	broad.mit.edu	36	2	101338163	101338163	+	Missense_Mutation	SNP	G	T	T			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:101338163G>T	uc002tba.1	-	c.709C>A	c.(709-711)CAA>AAA	p.Q237K		NM_153836	NP_722578	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	237						extracellular region	FMN binding			ovary(1)	1														0.1875	9.63224	12.560454	6	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101338163	101338163	4004	2	G	T	T	46	46	CREG2	T	3	3
INHBB	3625	broad.mit.edu	36	2	120823648	120823648	+	Missense_Mutation	SNP	A	G	G			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:120823648A>G	uc002tmn.2	+	c.952A>G	c.(952-954)AAC>GAC	p.N318D		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	318					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)	2		Prostate(154;0.122)												0.444444	8.118546	8.153573	4	5	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120823648	120823648	8043	2	A	G	G	9	9	INHBB	G	4	4
MAP3K2	10746	broad.mit.edu	36	2	127781625	127781625	+	Nonstop_Mutation	SNP	C	G	G			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:127781625C>G	uc002toj.1	-	c.1860G>C	c.(1858-1860)TAG>TAC	p.*620Y		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase	620					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)					p.*620Y(SKHEP1-Tumor)|p.*620Y(SKMES1-Tumor)|p.*620Y(T.T-Tumor)|p.*620Y(U87MG-Tumor)|p.*620Y(ACCMESO1-Tumor)|p.*620Y(COLO818-Tumor)|p.*620Y(NCIH520-Tumor)|p.*620Y(T3M4-Tumor)|p.*620Y(C2BBE1-Tumor)|p.*620Y(KYSE30-Tumor)|p.*620Y(PANC03.27-Tumor)|p.*620Y(COLO320-Tumor)	211				0.21875	39.539484	46.576496	21	75	CC		KEEP	---	---	---	---	capture			Nonstop_Mutation	SNP	127781625	127781625	9633	2	C	G	G	28	28	MAP3K2	G	5	3
MAP3K2	10746	broad.mit.edu	36	2	127796102	127796102	+	Silent	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:127796102T>G	uc002toj.1	-	c.1035A>C	c.(1033-1035)CCA>CCC	p.P345P		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase	345					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)						211				0.25	16.814242	20.410422	15	45	TT		KEEP	---	---	---	---	capture			Silent	SNP	127796102	127796102	9633	2	T	G	G	59	59	MAP3K2	G	4	4
TTN	7273	broad.mit.edu	36	2	179116069	179116069	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179116069T>G	uc002umr.1	-	c.89173A>C	c.(89173-89175)ACA>CCA	p.T29725P	TTN_uc002ums.1_Missense_Mutation_p.T23420P|TTN_uc010frc.1_Missense_Mutation_p.T23353P|TTN_uc010frd.1_Missense_Mutation_p.T23228P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30652										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.296296	6.992853	8.133225	8	19	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	179116069	179116069	17290	2	T	G	G	59	59	TTN	G	4	4
DNAH7	56171	broad.mit.edu	36	2	196461779	196461779	+	Missense_Mutation	SNP	A	G	G			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:196461779A>G	uc002utj.2	-	c.5218T>C	c.(5218-5220)TCC>CCC	p.S1740P		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1740	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.263158	8.258795	9.230192	5	14	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	196461779	196461779	4789	2	A	G	G	9	9	DNAH7	G	4	4
PGAP1	80055	broad.mit.edu	36	2	197489545	197489545	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:197489545T>G	uc002utw.1	-	c.319A>C	c.(319-321)ATT>CTT	p.I107L	PGAP1_uc002utx.1_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.I107L|PGAP1_uc010fsj.1_5'UTR	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	107	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4														0.14876	7.851911	22.507029	18	103	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	197489545	197489545	12200	2	T	G	G	51	51	PGAP1	G	4	4
ALS2	57679	broad.mit.edu	36	2	202299822	202299822	+	Silent	SNP	G	T	T			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:202299822G>T	uc002uyo.1	-	c.2992C>A	c.(2992-2994)CGA>AGA	p.R998R	ALS2_uc010ftl.1_Non-coding_Transcript|ALS2_uc002uyp.2_Silent_p.R998R	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	998	PH.				cell death|endosome organization|positive regulation of Rac GTPase activity|positive regulation of Rac protein signal transduction|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(4)|lung(1)|breast(1)	6										498				0.128571	11.172479	30.088613	18	122	GG		KEEP	---	---	---	---	capture			Silent	SNP	202299822	202299822	553	2	G	T	T	40	40	ALS2	T	3	3
ALS2CR8	79800	broad.mit.edu	36	2	203527027	203527027	+	Missense_Mutation	SNP	C	A	A			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:203527027C>A	uc002uzo.2	+	c.482C>A	c.(481-483)ACT>AAT	p.T161N	ALS2CR8_uc002uzp.2_Missense_Mutation_p.T161N|ALS2CR8_uc002uzm.2_Missense_Mutation_p.T161N|ALS2CR8_uc002uzn.2_Missense_Mutation_p.T59N|ALS2CR8_uc010ftu.1_Non-coding_Transcript	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	161										large_intestine(1)|ovary(1)	2														0.16129	6.66541	10.043991	5	26	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	203527027	203527027	558	2	C	A	A	20	20	ALS2CR8	A	3	3
COL6A3	1293	broad.mit.edu	36	2	237945182	237945182	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:237945182G>A	uc002vwl.2	-	c.4217C>T	c.(4216-4218)ACG>ATG	p.T1406M	COL6A3_uc002vwk.2_Missense_Mutation_p.T1406M|COL6A3_uc002vwm.2_Missense_Mutation_p.T1205M|COL6A3_uc002vwn.2_Missense_Mutation_p.T1206M|COL6A3_uc002vwo.2_Missense_Mutation_p.T1200M|COL6A3_uc002vwq.2_Missense_Mutation_p.T1200M|COL6A3_uc002vwr.2_Missense_Mutation_p.T999M	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1406	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|pancreas(1)	15		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)										0.457627	85.119731	85.211767	27	32	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	237945182	237945182	3839	2	G	A	A	40	40	COL6A3	A	1	1
CAD	790	broad.mit.edu	36	2	27294389	27294389	+	Splice_Site_SNP	SNP	G	T	T			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27294389G>T	uc002rji.1	+	c.e2_splice_site			CAD_uc010eyw.1_Splice_Site_SNP	NM_004341	NP_004332			carbamoylphosphate synthetase 2/aspartate						'de novo' pyrimidine base biosynthetic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|nuclear matrix	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)					653				0.166667	11.101165	16.756903	9	45	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	27294389	27294389	2681	2	G	T	T	44	44	CAD	T	5	3
EPAS1	2034	broad.mit.edu	36	2	46461027	46461027	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:46461027T>C	uc002ruv.1	+	c.1712T>C	c.(1711-1713)TTC>TCC	p.F571S	EPAS1_uc002ruw.1_Missense_Mutation_p.F37S	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	571					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)											0.192982	13.642891	18.898663	11	46	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46461027	46461027	5343	2	T	C	C	62	62	EPAS1	C	4	4
ATP6V1B1	525	broad.mit.edu	36	2	71043890	71043890	+	Missense_Mutation	SNP	C	T	T			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:71043890C>T	uc002shj.1	+	c.1000C>T	c.(1000-1002)CGC>TGC	p.R334C	ATP6V1B1_uc010fdv.1_Missense_Mutation_p.R334C|ATP6V1B1_uc010fdw.1_Non-coding_Transcript|ATP6V1B1_uc010fdx.1_Missense_Mutation_p.R292C	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	334					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0														0.376344	102.102978	103.350422	35	58	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71043890	71043890	1197	2	C	T	T	23	23	ATP6V1B1	T	1	1
ELMOD3	84173	broad.mit.edu	36	2	85452075	85452075	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:85452075T>G	uc010fgh.1	+	c.486T>G	c.(484-486)TGT>TGG	p.C162W	ELMOD3_uc010fgg.1_Intron|ELMOD3_uc002spf.2_Missense_Mutation_p.C162W|ELMOD3_uc002spg.2_Missense_Mutation_p.C162W|ELMOD3_uc002sph.2_Missense_Mutation_p.C162W	NM_032213	NP_115589	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform a	162					phagocytosis	cytoskeleton				ovary(2)	2														0.245614	15.087544	18.69479	14	43	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85452075	85452075	5262	2	T	G	G	59	59	ELMOD3	G	4	4
TNFSF10	8743	broad.mit.edu	36	3	173707114	173707114	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:173707114T>G	uc003fid.1	-	c.708A>C	c.(706-708)GAA>GAC	p.E236D	TNFSF10_uc003fie.1_3'UTR	NM_003810	NP_003801	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily,	236	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			skin(1)	1	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)							52				0.128205	23.468294	65.875102	40	272	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	173707114	173707114	16842	3	T	G	G	52	52	TNFSF10	G	4	4
KCNH8	131096	broad.mit.edu	36	3	19411755	19411755	+	Silent	SNP	C	T	T			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:19411755C>T	uc003cbk.1	+	c.1125C>T	c.(1123-1125)TAC>TAT	p.Y375Y	KCNH8_uc010hex.1_De_novo_Start_OutOfFrame	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	375	Helical; Name=Segment S5; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity			ovary(1)	1						NSCLC(124;1625 1765 8018 24930 42026)								0.401515	659.414656	663.885783	212	316	CC		KEEP	---	---	---	---	capture			Silent	SNP	19411755	19411755	8343	3	C	T	T	19	19	KCNH8	T	1	1
SCN5A	6331	broad.mit.edu	36	3	38602272	38602272	+	Nonsense_Mutation	SNP	C	A	A			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38602272C>A	uc003cio.1	-	c.2701G>T	c.(2701-2703)GAG>TAG	p.E901*	SCN5A_uc003cim.1_Nonsense_Mutation_p.E767*|SCN5A_uc003cin.1_Nonsense_Mutation_p.E901*|SCN5A_uc003cil.2_Nonsense_Mutation_p.E901*|SCN5A_uc010hhi.1_Nonsense_Mutation_p.E901*|SCN5A_uc010hhj.1_Nonsense_Mutation_p.E512*|SCN5A_uc010hhk.1_Nonsense_Mutation_p.E767*	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	901					blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.333333	6.548231	6.695719	2	4	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	38602272	38602272	14404	3	C	A	A	31	31	SCN5A	A	5	3
ZNF621	285268	broad.mit.edu	36	3	40549351	40549351	+	Silent	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:40549351T>C	uc003ckm.2	+	c.1086T>C	c.(1084-1086)TCT>TCC	p.S362S	ZNF621_uc003ckn.2_Silent_p.S362S|ZNF621_uc003cko.2_Silent_p.S327S	NM_001098414	NP_940886	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)										0.375	15.828347	16.170835	9	15	TT		KEEP	---	---	---	---	capture			Silent	SNP	40549351	40549351	18640	3	T	C	C	54	54	ZNF621	C	4	4
LTF	4057	broad.mit.edu	36	3	46472847	46472847	+	Missense_Mutation	SNP	C	T	T			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:46472847C>T	uc003cpq.1	-	c.253G>A	c.(253-255)GAG>AAG	p.E85K	LTF_uc010hjh.1_Missense_Mutation_p.E85K|LTF_uc003cpr.1_Missense_Mutation_p.E72K	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	85	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)									0.42	528.217644	530.453958	168	232	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46472847	46472847	9455	3	C	T	T	31	31	LTF	T	1	1
MST1	4485	broad.mit.edu	36	3	49699910	49699910	+	Missense_Mutation	SNP	C	T	T	rs2876714	unknown	TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49699910C>T	uc003cxg.1	-	c.319G>A	c.(319-321)GTA>ATA	p.V107I	MST1_uc010hkx.1_Missense_Mutation_p.V42I|RNF123_uc003cxh.1_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	107					proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GBM(110;181 1524 8005 22865 46297)								0.16129	8.654764	12.041384	5	26	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49699910	49699910	10283	3	C	T	T	19	19	MST1	T	1	1
POC1A	25886	broad.mit.edu	36	3	52131532	52131532	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52131532A>C	uc003dcu.1	-	c.884T>G	c.(883-885)GTG>GGG	p.V295G	POC1A_uc003dcv.1_Missense_Mutation_p.V257G|POC1A_uc003dcw.1_Missense_Mutation_p.V295G	NM_015426	NP_056241	Q8NBT0	POC1A_HUMAN	WD repeat domain 51A	295	WD 7.					centriole|microtubule basal body					0														0.235294	8.821776	12.375843	12	39	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52131532	52131532	12603	3	A	C	C	6	6	POC1A	C	4	4
GBE1	2632	broad.mit.edu	36	3	81802702	81802702	+	Missense_Mutation	SNP	C	T	T			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:81802702C>T	uc003dqg.2	-	c.406G>A	c.(406-408)GTG>ATG	p.V136M		NM_000158	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	136					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(3)	3		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)										0.276316	116.181716	123.029894	42	110	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	81802702	81802702	6536	3	C	T	T	19	19	GBE1	T	1	1
TADA3	10474	broad.mit.edu	36	3	9806628	9806628	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:9806628T>C	uc003bsx.1	-	c.227A>G	c.(226-228)GAT>GGT	p.D76G	ARPC4_uc003btc.1_5'Flank|TADA3_uc003bsw.1_5'Flank|TADA3_uc010hcn.1_Missense_Mutation_p.D76G|TADA3_uc003bsy.1_Missense_Mutation_p.D76G|ARPC4_uc003bsz.1_5'Flank|ARPC4_uc003bta.1_5'Flank|ARPC4_uc003btb.1_5'Flank	NM_006354	NP_006345	O75528	TADA3_HUMAN	transcriptional adaptor 3-like isoform a	76					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity				0														0.230769	10.91	12.674074	6	20	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9806628	9806628	16033	3	T	C	C	50	50	TADA3	C	4	4
LRBA	987	broad.mit.edu	36	4	152155237	152155237	+	Missense_Mutation	SNP	C	T	T			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:152155237C>T	uc010ipj.1	-	c.8G>A	c.(7-9)AGC>AAC	p.S3N	LRBA_uc003ilu.2_Missense_Mutation_p.S3N|LRBA_uc003ilx.1_Missense_Mutation_p.S3N|LRBA_uc003ily.2_3'UTR	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	3						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)	6	all_hematologic(180;0.151)													0.285714	9.196574	9.772204	4	10	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152155237	152155237	9304	4	C	T	T	28	28	LRBA	T	2	2
TMEM144	55314	broad.mit.edu	36	4	159378234	159378234	+	Missense_Mutation	SNP	C	A	A			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:159378234C>A	uc003ipx.1	+	c.671C>A	c.(670-672)GCA>GAA	p.A224E	TMEM144_uc010iqi.1_Non-coding_Transcript	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	224						integral to membrane					0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)										0.212598	38.858032	48.699142	27	100	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	159378234	159378234	16590	4	C	A	A	25	25	TMEM144	A	3	3
SH3RF1	57630	broad.mit.edu	36	4	170264710	170264710	+	Silent	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:170264710T>C	uc003isa.1	-	c.2361A>G	c.(2359-2361)GGA>GGG	p.G787G		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	787						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(1)	1		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)										0.333333	6.411837	6.638364	3	6	TT		KEEP	---	---	---	---	capture			Silent	SNP	170264710	170264710	14750	4	T	C	C	54	54	SH3RF1	C	4	4
CLCN3	1182	broad.mit.edu	36	4	170854977	170854977	+	Silent	SNP	A	G	G			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:170854977A>G	uc003ish.1	+	c.1080A>G	c.(1078-1080)GCA>GCG	p.A360A	CLCN3_uc003isi.1_Silent_p.A360A|CLCN3_uc003isj.1_Silent_p.A333A	NM_173872	NP_776297	P51790	CLCN3_HUMAN	chloride channel 3 isoform e	360	Helical; (By similarity).				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)										0.153439	35.144516	56.958405	29	160	AA		KEEP	---	---	---	---	capture			Silent	SNP	170854977	170854977	3600	4	A	G	G	8	8	CLCN3	G	4	4
PGM2	55276	broad.mit.edu	36	4	37528209	37528209	+	Nonsense_Mutation	SNP	C	A	A			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:37528209C>A	uc003gta.1	+	c.1422C>A	c.(1420-1422)TAC>TAA	p.Y474*		NM_018290	NP_060760	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	474					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			ovary(1)	1														0.25	23.234889	25.71616	11	33	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	37528209	37528209	12221	4	C	A	A	18	18	PGM2	A	5	3
REST	5978	broad.mit.edu	36	4	57491158	57491158	+	Silent	SNP	A	G	G			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:57491158A>G	uc003hch.1	+	c.1377A>G	c.(1375-1377)GGA>GGG	p.G459G	REST_uc003hci.1_Silent_p.G459G|REST_uc010ihf.1_Silent_p.G133G	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	459	Lys-rich.				transcription, DNA-dependent	cytoplasm|nucleus	transcription repressor activity|zinc ion binding			skin(2)|ovary(1)|lung(1)	4	Glioma(25;0.08)|all_neural(26;0.181)													0.384615	7.646617	7.805588	5	8	AA		KEEP	---	---	---	---	capture			Silent	SNP	57491158	57491158	13704	4	A	G	G	9	9	REST	G	4	4
POLR2B	5431	broad.mit.edu	36	4	57571939	57571939	+	Missense_Mutation	SNP	C	G	G			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:57571939C>G	uc003hcl.1	+	c.1716C>G	c.(1714-1716)TGC>TGG	p.C572W	POLR2B_uc003hcm.1_Missense_Mutation_p.C65W	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	572					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)													0.220339	20.987305	25.254314	13	46	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57571939	57571939	12643	4	C	G	G	28	28	POLR2B	G	3	3
PTPN13	5783	broad.mit.edu	36	4	87912988	87912988	+	Silent	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:87912988T>C	uc003hpy.1	+	c.5217T>C	c.(5215-5217)CCT>CCC	p.P1739P	PTPN13_uc003hpz.1_Silent_p.P1734P|PTPN13_uc003hqa.1_Silent_p.P1715P|PTPN13_uc003hqb.1_Silent_p.P1543P|PTPN13_uc003hqc.1_Silent_p.P100P	NM_080685	NP_542416	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1734						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)										0.30303	15.496675	16.803372	10	23	TT		KEEP	---	---	---	---	capture			Silent	SNP	87912988	87912988	13237	4	T	C	C	55	55	PTPN13	C	4	4
FAM13A	10144	broad.mit.edu	36	4	89879277	89879277	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:89879277A>C	uc003hse.1	-	c.2489T>G	c.(2488-2490)GTG>GGG	p.V830G	FAM13A_uc003hsf.1_Missense_Mutation_p.V416G|FAM13A_uc003hsb.1_Missense_Mutation_p.V504G|FAM13A_uc003hsc.1_Missense_Mutation_p.V490G|FAM13A_uc003hsd.1_Missense_Mutation_p.V504G|FAM13A_uc003hsg.1_Missense_Mutation_p.V301G|FAM13A_uc003hsa.1_Missense_Mutation_p.V301G	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	830					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2														0.4	39.630406	40.666633	34	51	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89879277	89879277	5649	4	A	C	C	6	6	FAM13A	C	4	4
PAM	5066	broad.mit.edu	36	5	102230970	102230970	+	Missense_Mutation	SNP	C	T	T			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:102230970C>T	uc003knt.1	+	c.184C>T	c.(184-186)CGC>TGC	p.R62C	PAM_uc003kns.1_Missense_Mutation_p.R62C|PAM_uc003knu.1_Missense_Mutation_p.R62C|PAM_uc003knv.1_Missense_Mutation_p.R62C|PAM_uc003knw.1_Missense_Mutation_p.R62C	NM_000919	NP_000910	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	62	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).|Intragranular (Potential).				oxidation-reduction process|peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding				0		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)									0.48913	139.268393	139.277889	45	47	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102230970	102230970	11829	5	C	T	T	31	31	PAM	T	1	1
RAPGEF6	51735	broad.mit.edu	36	5	130819598	130819598	+	Missense_Mutation	SNP	C	A	A			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:130819598C>A	uc003kvp.1	-	c.3021G>T	c.(3019-3021)TTG>TTT	p.L1007F	RAPGEF6_uc003kvn.1_Missense_Mutation_p.L957F|RAPGEF6_uc003kvo.1_Missense_Mutation_p.L962F|RAPGEF6_uc010jdi.1_Missense_Mutation_p.L957F|RAPGEF6_uc010jdj.1_Missense_Mutation_p.L957F|RAPGEF6_uc003kvq.1_Missense_Mutation_p.L674F|RAPGEF6_uc003kvr.1_Missense_Mutation_p.L957F	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	957	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		Melanoma(168;435 1955 13113 13877 23213)								0.179487	7.856994	11.709453	7	32	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130819598	130819598	13508	5	C	A	A	29	29	RAPGEF6	A	3	3
HMP19	51617	broad.mit.edu	36	5	173467064	173467064	+	Missense_Mutation	SNP	G	C	C			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:173467064G>C	uc003mcx.1	+	c.466G>C	c.(466-468)GCA>CCA	p.A156P		NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	HMP19 protein	156	Lumenal (Potential).				dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)											0.307692	9.867563	10.313746	4	9	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	173467064	173467064	7537	5	G	C	C	34	34	HMP19	C	3	3
CDHR2	54825	broad.mit.edu	36	5	175938165	175938165	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:175938165T>C	uc003mem.1	+	c.1768T>C	c.(1768-1770)TAC>CAC	p.Y590H	CDHR2_uc003men.1_Missense_Mutation_p.Y590H	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	590	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2														0.172414	8.661145	11.598982	5	24	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	175938165	175938165	3248	5	T	C	C	53	53	CDHR2	C	4	4
AIM1	202	broad.mit.edu	36	6	107074349	107074349	+	Missense_Mutation	SNP	C	T	T			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:107074349C>T	uc003prh.1	+	c.1349C>T	c.(1348-1350)ACA>ATA	p.T450I		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	450							sugar binding			breast(4)|ovary(2)|large_intestine(1)	7	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)						659				0.387868	618.881357	624.880699	211	333	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107074349	107074349	433	6	C	T	T	17	17	AIM1	T	2	2
LAMA4	3910	broad.mit.edu	36	6	112545764	112545764	+	Missense_Mutation	SNP	G	C	C			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:112545764G>C	uc003pvu.2	-	c.4852C>G	c.(4852-4854)CTC>GTC	p.L1618V	LAMA4_uc003pvv.2_Missense_Mutation_p.L1611V|LAMA4_uc003pvt.2_Missense_Mutation_p.L1611V	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1618	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)										0.113537	15.159125	49.036706	26	203	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112545764	112545764	8931	6	G	C	C	33	33	LAMA4	C	3	3
FRK	2444	broad.mit.edu	36	6	116370966	116370966	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:116370966G>A	uc003pwi.1	-	c.1216C>T	c.(1216-1218)CGT>TGT	p.R406C		NM_002031	NP_002022	P42685	FRK_HUMAN	fyn-related kinase	406	Protein kinase.				negative regulation of cell proliferation|protein phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|lung(3)	6		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)						355				0.334204	381.3781	390.697515	128	255	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116370966	116370966	6298	6	G	A	A	37	37	FRK	A	1	1
SMPDL3A	10924	broad.mit.edu	36	6	123169108	123169108	+	Silent	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:123169108T>C	uc003pzg.1	+	c.951T>C	c.(949-951)CCT>CCC	p.P317P	SMPDL3A_uc003pzh.1_Silent_p.P186P	NM_006714	NP_006705	Q92484	ASM3A_HUMAN	acid sphingomyelinase-like phosphodiesterase 3A	317					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity				0				GBM - Glioblastoma multiforme(226;0.236)										0.25	8.191566	9.102081	4	12	TT		KEEP	---	---	---	---	capture			Silent	SNP	123169108	123169108	15308	6	T	C	C	55	55	SMPDL3A	C	4	4
MTHFD1L	25902	broad.mit.edu	36	6	151378491	151378491	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:151378491G>A	uc003qob.1	+	c.2555G>A	c.(2554-2556)AGA>AAA	p.R852K	MTHFD1L_uc003qoc.1_Missense_Mutation_p.R800K	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	852	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)										0.160584	8.136852	23.68931	22	115	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	151378491	151378491	10321	6	G	A	A	33	33	MTHFD1L	A	2	2
HLA-E	3133	broad.mit.edu	36	6	30565579	30565579	+	Silent	SNP	C	T	T			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30565579C>T	uc003nqg.1	+	c.162C>T	c.(160-162)TTC>TTT	p.F54F		NM_005516	NP_005507	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	54	Alpha-1.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(4)|ovary(1)	5														0.371429	37.065065	37.573687	13	22	CC		KEEP	---	---	---	---	capture			Silent	SNP	30565579	30565579	7501	6	C	T	T	31	31	HLA-E	T	1	1
TAP1	6890	broad.mit.edu	36	6	32923768	32923768	+	Missense_Mutation	SNP	G	C	C			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32923768G>C	uc003ocg.1	-	c.1826C>G	c.(1825-1827)GCC>GGC	p.A609G		NM_000593	NP_000584	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family	609	Cytoplasmic (Potential).|ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0														0.266667	7.408759	8.139056	4	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32923768	32923768	16071	6	G	C	C	42	42	TAP1	C	3	3
ITPR3	3710	broad.mit.edu	36	6	33761263	33761263	+	Silent	SNP	C	G	G			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33761263C>G	uc010jvc.1	+	c.5457C>G	c.(5455-5457)CGC>CGG	p.R1819R	ITPR3_uc003oey.1_5'Flank	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1819	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			central_nervous_system(5)|ovary(3)|lung(1)|kidney(1)	10														0.5	6.453477	6.453477	4	4	CC		KEEP	---	---	---	---	capture			Silent	SNP	33761263	33761263	8226	6	C	G	G	27	27	ITPR3	G	3	3
BRPF3	27154	broad.mit.edu	36	6	36287126	36287126	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:36287126A>C	uc003olv.2	+	c.2293A>C	c.(2293-2295)ACC>CCC	p.T765P	BRPF3_uc010jwb.1_Intron|BRPF3_uc010jwc.1_Non-coding_Transcript	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	765					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)	1														0.666667	8.490047	8.634788	4	2	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36287126	36287126	1552	6	A	C	C	6	6	BRPF3	C	4	4
TINAG	27283	broad.mit.edu	36	6	54320133	54320133	+	Missense_Mutation	SNP	C	G	G			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:54320133C>G	uc003pcj.1	+	c.758C>G	c.(757-759)GCT>GGT	p.A253G	TINAG_uc010jzt.1_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	253					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)											0.171429	10.239965	13.804368	6	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54320133	54320133	16450	6	C	G	G	28	28	TINAG	G	3	3
F13A1	2162	broad.mit.edu	36	6	6211885	6211885	+	Missense_Mutation	SNP	C	T	T			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:6211885C>T	uc003mwv.1	-	c.476G>A	c.(475-477)CGC>CAC	p.R159H		NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	159					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)									0.431772	662.34976	664.336079	212	279	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6211885	6211885	5534	6	C	T	T	27	27	F13A1	T	1	1
MDN1	23195	broad.mit.edu	36	6	90459560	90459560	+	Missense_Mutation	SNP	C	A	A			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:90459560C>A	uc003pnn.1	-	c.9910G>T	c.(9910-9912)GAT>TAT	p.D3304Y		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3304					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)	8		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)										0.241379	12.921201	14.685076	7	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	90459560	90459560	9804	6	C	A	A	30	30	MDN1	A	3	3
POT1	25913	broad.mit.edu	36	7	124286400	124286400	+	Silent	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:124286400T>C	uc003vlm.1	-	c.549A>G	c.(547-549)GTA>GTG	p.V183V	POT1_uc003vlk.1_Non-coding_Transcript|POT1_uc003vll.1_Non-coding_Transcript|POT1_uc003vlo.1_Silent_p.V52V|POT1_uc003vln.1_Non-coding_Transcript	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	183					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)								0.166667	24.923793	37.59482	20	100	TT		KEEP	---	---	---	---	capture			Silent	SNP	124286400	124286400	12689	7	T	C	C	49	49	POT1	C	4	4
ETV1	2115	broad.mit.edu	36	7	13906988	13906988	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:13906988A>C	uc003ssu.1	-	c.1112T>G	c.(1111-1113)GTG>GGG	p.V371G	ETV1_uc003sst.1_Non-coding_Transcript|ETV1_uc003ssv.2_Non-coding_Transcript|ETV1_uc003ssw.2_Missense_Mutation_p.V348G|ETV1_uc003ssx.1_Non-coding_Transcript|ETV1_uc003ssy.1_Non-coding_Transcript	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1	371	ETS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|central_nervous_system(1)|lung(1)|ovary(1)	34										460				0.303279	39.829761	44.576318	37	85	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13906988	13906988	5470	7	A	C	C	6	6	ETV1	C	4	4
EPHB6	2051	broad.mit.edu	36	7	142276537	142276537	+	Missense_Mutation	SNP	A	G	G			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142276537A>G	uc003wbq.1	+	c.2159A>G	c.(2158-2160)GAG>GGG	p.E720G	EPHB6_uc003wbr.1_Missense_Mutation_p.E720G|EPHB6_uc003wbs.1_Missense_Mutation_p.E443G|EPHB6_uc003wbt.1_Missense_Mutation_p.E209G|EPHB6_uc003wbu.1_Missense_Mutation_p.E443G|EPHB6_uc003wbv.1_Missense_Mutation_p.E119G	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	735	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|large_intestine(4)|central_nervous_system(3)|ovary(1)|pancreas(1)	14	Melanoma(164;0.059)									313				0.282051	8.091913	10.005902	11	28	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142276537	142276537	5371	7	A	G	G	11	11	EPHB6	G	4	4
UBE3C	9690	broad.mit.edu	36	7	156660383	156660383	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:156660383T>G	uc010lqs.1	+	c.352T>G	c.(352-354)TAT>GAT	p.Y118D	UBE3C_uc003wnf.2_Missense_Mutation_p.Y75D|UBE3C_uc003wng.2_Missense_Mutation_p.Y118D	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	118					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|ovary(1)	2		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)										0.196078	6.785692	11.682183	10	41	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	156660383	156660383	17439	7	T	G	G	57	57	UBE3C	G	4	4
NPSR1	387129	broad.mit.edu	36	7	34833566	34833566	+	Silent	SNP	C	T	T			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:34833566C>T	uc003teh.1	+	c.507C>T	c.(505-507)ATC>ATT	p.I169I	AAA1_uc010kwq.1_Intron|AAA1_uc010kws.1_Intron|NPSR1_uc003teg.1_Silent_p.I169I|NPSR1_uc010kwt.1_Silent_p.I16I|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Silent_p.I103I|NPSR1_uc003tei.1_Silent_p.I169I|NPSR1_uc010kww.1_Silent_p.I158I|AAA1_uc010kwy.1_Intron|AAA1_uc003tek.2_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	169	Helical; Name=4; (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			pancreas(1)|skin(1)	2					Halothane(DB01159)									0.297143	141.527189	147.969418	52	123	CC		KEEP	---	---	---	---	capture			Silent	SNP	34833566	34833566	11005	7	C	T	T	31	31	NPSR1	T	1	1
SRCRB4D	136853	broad.mit.edu	36	7	75871571	75871571	+	Missense_Mutation	SNP	A	G	G			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:75871571A>G	uc003ufb.1	-	c.122T>C	c.(121-123)CTC>CCC	p.L41P	ZP3_uc003ufc.2_Intron	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain	41						extracellular region|membrane	scavenger receptor activity			pancreas(1)	1														0.428571	11.434359	11.498666	6	8	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75871571	75871571	15651	7	A	G	G	11	11	SRCRB4D	G	4	4
CALCR	799	broad.mit.edu	36	7	92893825	92893825	+	Missense_Mutation	SNP	C	T	T			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:92893825C>T	uc003umv.1	-	c.1306G>A	c.(1306-1308)GTG>ATG	p.V436M	CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003umu.1_Missense_Mutation_p.V402M|CALCR_uc003umw.2_Missense_Mutation_p.V402M	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor	418	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(1)|pancreas(1)	5	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)									0.142857	14.833961	22.577598	9	54	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	92893825	92893825	2695	7	C	T	T	19	19	CALCR	T	1	1
MTMR7	9108	broad.mit.edu	36	8	17202097	17202097	+	Missense_Mutation	SNP	T	C	C			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:17202097T>C	uc003wxm.1	-	c.1628A>G	c.(1627-1629)GAA>GGA	p.E543G		NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	543							protein tyrosine phosphatase activity				0				Colorectal(111;0.112)										0.172043	11.226815	21.093367	16	77	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17202097	17202097	10341	8	T	C	C	62	62	MTMR7	C	4	4
WHSC1L1	54904	broad.mit.edu	36	8	38308135	38308135	+	Missense_Mutation	SNP	G	T	T			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:38308135G>T	uc003xli.1	-	c.1036C>A	c.(1036-1038)CAA>AAA	p.Q346K	WHSC1L1_uc010lwe.1_Missense_Mutation_p.Q346K|WHSC1L1_uc003xlj.1_Missense_Mutation_p.Q346K	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	346					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|zinc ion binding				0	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)						p.Q346K(ONS76-Tumor)|p.Q346K(HS940.T-Tumor)|p.Q346K(CAKI1-Tumor)|p.Q346K(AU565-Tumor)|p.Q346K(FTC133-Tumor)|p.Q346K(KP2-Tumor)|p.Q346K(CAL51-Tumor)|p.Q346K(HCC95-Tumor)|p.Q346K(JHOM1-Tumor)|p.Q346K(HCC1359-Tumor)|p.Q346K(SKNSH-Tumor)|p.Q346K(HS863.T-Tumor)|p.Q346K(SCC25-Tumor)|p.Q346K(T3M4-Tumor)|p.Q346K(A704-Tumor)|p.Q346K(MEG01-Tumor)|p.Q346K(MUTZ3-Tumor)|p.Q346K(JHH1-Tumor)|p.Q346K(T3M10-Tumor)|p.Q346K(HSC3-Tumor)|p.Q346K(HS737.T-Tumor)|p.Q346K(HOS-Tumor)|p.Q346K(RS411-Tumor)|p.Q346K(JHOS2-Tumor)|p.Q346K(T47D-Tumor)|p.Q346K(HS600.T-Tumor)|p.Q346K(COLO829-Tumor)|p.Q346K(TE125.T-Tumor)|p.Q346K(KHM1B-Tumor)|p.Q346K(HS616.T-Tumor)|p.Q346K(CAOV4-Tumor)|p.Q346K(SNU1197-Tumor)|p.Q346K(COLO792-Tumor)|p.Q346K(HCC1806-Tumor)|p.Q346K(TGBC11TKB-Tumor)|p.Q346K(COV318-Tumor)|p.Q346K(NCIH3255-Tumor)|p.Q346K(RERFLCAD2-Tumor)|p.Q346K(WM983B-Tumor)|p.Q346K(TE14-Tumor)|p.Q346K(769P-Tumor)|p.Q346K(NCCSTCK140-Tumor)|p.Q346K(HS934.T-Tumor)|p.Q346K(NCIH854-Tumor)|p.Q346K(SKBR3-Tumor)|p.Q346K(SNU1196-Tumor)|p.Q346K(COLO680N-Tumor)|p.Q346K(OCILY3-Tumor)|p.Q346K(HS834.T-Tumor)|p.Q346K(SKCO1-Tumor)|p.Q346K(KASUMI2-Tumor)|p.Q346K(8305C-Tumor)|p.Q346K(HLFA-Tumor)|p.Q346K(WM793-Tumor)|p.Q346K(SNU503-Tumor)|p.Q346K(HS604.T-Tumor)|p.Q346K(KASUMI1-Tumor)|p.Q346K(WM2664-Tumor)|p.Q346K(SNU46-Tumor)|p.Q346K(HLF-Tumor)|p.Q346K(SNU1040-Tumor)|p.Q346K(LXF289-Tumor)|p.Q346K(SNU387-Tumor)|p.Q346K(YD10B-Tumor)|p.Q346K(HH-Tumor)|p.Q346K(RD-Tumor)|p.Q346K(CAL78-Tumor)|p.Q346K(ECC12-Tumor)|p.Q346K(NCIH1666-Tumor)|p.Q346K(OUMS27-Tumor)|p.Q346K(PEER-Tumor)|p.Q346K(SKUT1-Tumor)|p.Q346K(C3A-Tumor)|p.Q346K(KO52-Tumor)|p.Q346K(SKM1-Tumor)|p.Q346K(BICR18-Tumor)|p.Q346K(KMS20-Tumor)|p.Q346K(HS742.T-Tumor)|p.Q346K(SNU245-Tumor)|p.Q346K(SNU1-Tumor)|p.Q346K(SW1116-Tumor)|p.Q346K(U266B1-Tumor)|p.Q346K(CALU3-Tumor)|p.Q346K(GSS-Tumor)	521				0.220779	35.740918	47.217427	34	120	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38308135	38308135	17937	8	G	T	T	48	48	WHSC1L1	T	3	3
CPNE3	8895	broad.mit.edu	36	8	87632446	87632446	+	Splice_Site_SNP	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:87632446T>G	uc003ydv.1	+	c.e14_splice_site			CPNE3_uc003ydw.1_Splice_Site_SNP	NM_003909	NP_003900			copine III						lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			ovary(1)	1														0.227273	8.258941	9.769062	5	17	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	87632446	87632446	3951	8	T	G	G	57	57	CPNE3	G	5	4
PGCP	10404	broad.mit.edu	36	8	98110837	98110837	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:98110837T>G	uc003yhw.1	+	c.992T>G	c.(991-993)GTG>GGG	p.V331G		NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase	331					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity				0	Breast(36;1.86e-05)													0.318182	11.252424	11.936659	7	15	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98110837	98110837	12209	8	T	G	G	59	59	PGCP	G	4	4
WDR38	401551	broad.mit.edu	36	9	126657829	126657829	+	Missense_Mutation	SNP	A	G	G			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:126657829A>G	uc004box.1	+	c.286A>G	c.(286-288)AAG>GAG	p.K96E		NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	96	WD 2.										0												OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.419355	82.640116	82.991779	26	36	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126657829	126657829	17865	9	A	G	G	9	9	WDR38	G	4	4
ANGPTL2	23452	broad.mit.edu	36	9	128893857	128893857	+	Missense_Mutation	SNP	G	C	C			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:128893857G>C	uc004bqr.1	-	c.1195C>G	c.(1195-1197)CGC>GGC	p.R399G	RALGPS1_uc004bqo.1_Intron|RALGPS1_uc004bqp.2_Intron|RALGPS1_uc004bqq.2_Intron|ANGPTL2_uc010mxg.1_Missense_Mutation_p.R97G	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2 precursor	399	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding				0														0.214286	7.291356	11.876959	12	44	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128893857	128893857	617	9	G	C	C	38	38	ANGPTL2	C	3	3
FAM129B	64855	broad.mit.edu	36	9	129327247	129327247	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129327247A>C	uc004brh.1	-	c.332T>G	c.(331-333)GTC>GGC	p.V111G	FAM129B_uc004bri.1_Missense_Mutation_p.V98G|FAM129B_uc004brj.2_Missense_Mutation_p.V111G	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	98	PH.						protein binding				0														0.375	16.097805	16.450695	9	15	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129327247	129327247	5634	9	A	C	C	10	10	FAM129B	C	4	4
ENOX2	10495	broad.mit.edu	36	X	129627386	129627386	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:129627386A>C	uc004evw.1	-	c.1013T>G	c.(1012-1014)GTG>GGG	p.V338G	ENOX2_uc004evv.1_Missense_Mutation_p.V165G|ENOX2_uc004evx.1_Missense_Mutation_p.V309G|ENOX2_uc004evy.1_Missense_Mutation_p.V309G	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2 isoform b	338					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1						Ovarian(101;828 1506 2951 9500 35258)								0.333333	6.632362	6.960494	4	8	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129627386	129627386	5320	23	A	C	C	6	6	ENOX2	C	4	4
OFD1	8481	broad.mit.edu	36	X	13688382	13688382	+	Missense_Mutation	SNP	G	T	T			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:13688382G>T	uc004cvp.2	+	c.1882G>T	c.(1882-1884)GTA>TTA	p.V628L	OFD1_uc004cvr.2_Missense_Mutation_p.V195L|OFD1_uc004cvt.2_Non-coding_Transcript|OFD1_uc004cvq.2_Missense_Mutation_p.V488L|OFD1_uc010nen.1_Missense_Mutation_p.V627L|OFD1_uc004cvs.2_Non-coding_Transcript|OFD1_uc004cvu.2_Missense_Mutation_p.V587L|OFD1_uc004cvv.2_Missense_Mutation_p.V587L	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	628	Potential.|Mediates the interaction with SDCCAG8.|Mediates homooligomerization.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0														0.310345	19.880399	20.801379	9	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13688382	13688382	11243	23	G	T	T	48	48	OFD1	T	3	3
RS1	6247	broad.mit.edu	36	X	18572665	18572665	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:18572665A>C	uc004cyo.1	-	c.328T>G	c.(328-330)TGT>GGT	p.C110G	CDKL5_uc004cym.1_Intron|CDKL5_uc004cyn.1_Intron	NM_000330	NP_000321	O15537	XLRS1_HUMAN	X-linked juvenile retinoschisis protein	110	F5/8 type C.		C -> Y (in XLRS1).		cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				ovary(2)	2	Hepatocellular(33;0.183)									5				0.222222	10.889424	14.134769	10	35	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18572665	18572665	14173	23	A	C	C	6	6	RS1	C	4	4
PHKA2	5256	broad.mit.edu	36	X	18911919	18911919	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:18911919A>C	uc004cyv.2	-	c.53T>G	c.(52-54)GTG>GGG	p.V18G		NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	18					glucose metabolic process|glycogen catabolic process|protein modification process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)													0.6	6.401532	6.441048	3	2	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18911919	18911919	12268	23	A	C	C	6	6	PHKA2	C	4	4
FAM155B	27112	broad.mit.edu	36	X	68666141	68666141	+	Missense_Mutation	SNP	T	G	G			TCGA-14-1451-01	TCGA-14-1451-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:68666141T>G	uc004dxk.1	+	c.1036T>G	c.(1036-1038)TTG>GTG	p.L346V		NM_015686	NP_056501	O75949	F155B_HUMAN	transmembrane protein 28	346						integral to membrane				ovary(1)|breast(1)	2														0.375	6.463327	6.74697	6	10	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68666141	68666141	5664	23	T	G	G	60	60	FAM155B	G	4	4
ZMYM3	9203	broad.mit.edu	36	X	70386253	70386253	+	Missense_Mutation	SNP	A	C	C			TCGA-14-1451-01	TCGA-14-1451-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70386253A>C	uc004dzh.1	-	c.1253T>G	c.(1252-1254)GTC>GGC	p.V418G	ZMYM3_uc004dzi.1_Missense_Mutation_p.V418G|ZMYM3_uc004dzj.1_Missense_Mutation_p.V418G|ZMYM3_uc004dzk.2_Missense_Mutation_p.V418G|ZMYM3_uc004dzl.2_Missense_Mutation_p.V418G|ZMYM3_uc004dzm.2_Missense_Mutation_p.V418G	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	418	MYM-type 2.				multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)													0.363636	7.35037	7.548298	4	7	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70386253	70386253	18292	23	A	C	C	10	10	ZMYM3	C	4	4
ZNF711	7552	broad.mit.edu	36	X	84412580	84412580	+	Missense_Mutation	SNP	G	A	A			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:84412580G>A	uc004eeq.1	+	c.1514G>A	c.(1513-1515)AGT>AAT	p.S505N	ZNF711_uc004eeo.1_Missense_Mutation_p.S459N|ZNF711_uc004eep.1_Missense_Mutation_p.S459N	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	459					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.2	7.791193	9.463869	4	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84412580	84412580	18712	23	G	A	A	36	36	ZNF711	A	2	2
ZNF711	7552	broad.mit.edu	36	X	84412794	84412794	+	Silent	SNP	G	A	A			TCGA-14-1451-01	TCGA-14-1451-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:84412794G>A	uc004eeq.1	+	c.1728G>A	c.(1726-1728)GAG>GAA	p.E576E	ZNF711_uc004eeo.1_Silent_p.E530E|ZNF711_uc004eep.1_Silent_p.E530E	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	530					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.2	9.010494	11.943347	7	28	GG		KEEP	---	---	---	---	capture			Silent	SNP	84412794	84412794	18712	23	G	A	A	33	33	ZNF711	A	2	2
UTY	7404	broad.mit.edu	36	Y	13947603	13947603	+	Missense_Mutation	SNP	C	A	A			TCGA-14-1451-01	TCGA-14-1451-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrY:13947603C>A	uc004fsx.1	-	c.2565G>T	c.(2563-2565)TTG>TTT	p.L855F	UTY_uc004fsw.1_Missense_Mutation_p.L518F|UTY_uc010nwx.1_5'UTR|UTY_uc004fsy.1_Missense_Mutation_p.L855F|UTY_uc004fsz.1_Missense_Mutation_p.L855F	NM_007125	NP_009056	O14607	UTY_HUMAN	tetratricopeptide repeat protein isoform 3	855					chromatin modification|oxidation-reduction process	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						Colon(103;1740 2135 40732 45171)								0.210526	7.932605	10.948696	8	30	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13947603	13947603	17672	24	C	A	A	17	17	UTY	A	3	3
PTEN	5728	broad.mit.edu	36	10	89707695	89707696	+	Frame_Shift_Ins	INS	-	A	A			TCGA-14-1451-01	TCGA-14-1451-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:89707695_89707696insA	uc001kfb.1	+	c.740_741insA	c.(739-741)TTAfs	p.L247fs		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	247	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.P248fs*5(11)|p.L247*(3)|p.L247fs*4(1)|p.L247fs*5(1)|p.G165_K342del(1)|p.G165_*404del(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)	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)				31		264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.62			404	245				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	89707695	89707696	13192	10	-	A	A	61	61	PTEN	A	5	5
AP2M1	1173	broad.mit.edu	36	3	185381651	185381653	+	In_Frame_Del	DEL	ATG	-	-			TCGA-14-1451-01	TCGA-14-1451-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:185381651_185381653delATG	uc010hxu.1	+	c.650_652delATG	c.(649-654)AATGAC>AAC	p.D218del	AP2M1_uc010hxt.1_In_Frame_Del_p.D34del|AP2M1_uc003fmw.1_In_Frame_Del_p.D216del|AP2M1_uc003fmx.1_Intron|AP2M1_uc003fmy.1_In_Frame_Del_p.D216del	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	218	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity				0	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)											0.39			13	20				---	---	---	---	capture_indel			In_Frame_Del	DEL	185381651	185381653	752	3	ATG	-	-	4	4	AP2M1	-	5	5
KCNV1	27012	broad.mit.edu	36	8	111054082	111054082	+	Frame_Shift_Del	DEL	G	-	-			TCGA-14-1451-01	TCGA-14-1451-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:111054082_111054082delG	uc003ynr.2	-	c.572_572delC	c.(571-573)ACTfs	p.T191fs	KCNV1_uc010mcw.1_Frame_Shift_Del_p.T191fs	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	191	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)											0.34			20	39				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	111054082	111054082	8399	8	G	-	-	36	36	KCNV1	-	5	5
