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	TCGAscape_Amplification_Peaks	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_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
NOLC1	9221	broad.mit.edu	37	10	103917833	103917833	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:103917833G>T	uc001kup.2	+	c.469G>T	c.(469-471)GCC>TCC	p.A157S	NOLC1_uc001kuo.2_Missense_Mutation_p.A157S|NOLC1_uc001kuq.2_Missense_Mutation_p.A158S|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_Intron	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	157	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)										0.322034	115.408006	118.727105	38	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103917833	103917833	10932	10	G	T	T	T	442	34	NOLC1	2	2
SH3PXD2A	9644	broad.mit.edu	37	10	105361828	105361828	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105361828C>G	uc001kxj.1	-	c.3063G>C	c.(3061-3063)CAG>CAC	p.Q1021H	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.Q856H|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.Q898H|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.Q856H|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.Q964H	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	1049					cell communication	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)										0.411765	125.912223	126.489743	35	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105361828	105361828	14748	10	C	G	G	G	363	28	SH3PXD2A	3	3
CELF2	10659	broad.mit.edu	37	10	11047364	11047364	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:11047364A>G	uc010qbj.1	+	c.14A>G	c.(13-15)AAA>AGA	p.K5R	CELF2_uc010qbi.1_5'UTR|CELF2_uc001iki.3_Missense_Mutation_p.K5R	NM_001025076	NP_001020247	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	5	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0														0.16474	146.951071	183.864799	57	289	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11047364	11047364	3349	10	A	G	G	G	13	1	CELF2	4	4
PNLIPRP1	5407	broad.mit.edu	37	10	118357646	118357646	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118357646C>T	uc001lco.1	+	c.782C>T	c.(781-783)TCT>TTT	p.S261F	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.S261F	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	261					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)										0.301887	47.778402	49.636545	16	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118357646	118357646	12576	10	C	T	T	T	416	32	PNLIPRP1	2	2
MKI67	4288	broad.mit.edu	37	10	129904904	129904904	+	Nonsense_Mutation	SNP	T	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:129904904T>A	uc001lke.2	-	c.5200A>T	c.(5200-5202)AAA>TAA	p.K1734*	MKI67_uc001lkf.2_Nonsense_Mutation_p.K1374*|MKI67_uc009yav.1_Nonsense_Mutation_p.K1309*|MKI67_uc009yaw.1_Nonsense_Mutation_p.K884*	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1734	7.|16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(1)	5		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)												0.379845	158.345687	159.979001	49	80	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	129904904	129904904	9988	10	T	A	A	A	819	63	MKI67	5	3
C10orf53	282966	broad.mit.edu	37	10	50916417	50916417	+	Silent	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50916417C>A	uc001jid.1	+	c.228C>A	c.(226-228)ACC>ACA	p.T76T		NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53 isoform a	79											0		all_neural(218;0.107)												0.341564	257.14983	262.540779	83	160	KEEP	---	---	---	---	capture		Silent	SNP	50916417	50916417	1643	10	C	A	A	A	275	22	C10orf53	2	2
OGDHL	55753	broad.mit.edu	37	10	50946023	50946023	+	Silent	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50946023G>A	uc009xog.2	-	c.2568C>T	c.(2566-2568)CGC>CGT	p.R856R	OGDHL_uc001jie.2_Silent_p.R829R|OGDHL_uc010qgt.1_Silent_p.R772R|OGDHL_uc010qgu.1_Silent_p.R620R	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform c	829					glycolysis|oxidation-reduction process	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1														0.222222	141.671107	160.15603	58	203	KEEP	---	---	---	---	capture		Silent	SNP	50946023	50946023	11245	10	G	A	A	A	535	42	OGDHL	2	2
MYPN	84665	broad.mit.edu	37	10	69882001	69882001	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:69882001C>T	uc001jnm.3	+	c.806C>T	c.(805-807)CCC>CTC	p.P269L	MYPN_uc001jnl.1_Missense_Mutation_p.P269L|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Missense_Mutation_p.P269L|MYPN_uc001jnp.1_Missense_Mutation_p.P269L|MYPN_uc009xps.2_Missense_Mutation_p.P269L|MYPN_uc009xpt.2_Missense_Mutation_p.P269L|MYPN_uc010qit.1_5'UTR|MYPN_uc010qiu.1_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	269	Interaction with CARP.|Ig-like 1.					nucleus|sarcomere	actin binding			ovary(3)	3														0.169643	43.351597	54.920615	19	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69882001	69882001	10493	10	C	T	T	T	286	22	MYPN	2	2
CDH23	64072	broad.mit.edu	37	10	73270728	73270728	+	Silent	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73270728C>A	uc001jrx.3	+	c.306C>A	c.(304-306)ACC>ACA	p.T102T	CDH23_uc001jrw.3_Silent_p.T102T|CDH23_uc001jrv.2_Silent_p.T97T|CDH23_uc009xql.2_Silent_p.T147T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	102	Cadherin 1.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11														0.338235	73.505458	75.078339	23	45	KEEP	---	---	---	---	capture		Silent	SNP	73270728	73270728	3237	10	C	A	A	A	288	23	CDH23	1	1
ZMIZ1	57178	broad.mit.edu	37	10	81049602	81049602	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:81049602G>A	uc001kaf.2	+	c.496G>A	c.(496-498)GTG>ATG	p.V166M	ZMIZ1_uc001kag.2_Missense_Mutation_p.V42M|ZMIZ1_uc001kah.1_Missense_Mutation_p.V42M	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	166					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)	3	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)											0.079137	1.137039	26.259097	11	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81049602	81049602	18287	10	G	A	A	A	520	40	ZMIZ1	1	1
TLL2	7093	broad.mit.edu	37	10	98146807	98146807	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98146807G>T	uc001kml.1	-	c.1755C>A	c.(1753-1755)CAC>CAA	p.H585Q		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	585	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)										0.47561	265.246801	265.331091	78	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98146807	98146807	16476	10	G	T	T	T	516	40	TLL2	1	1
NAV2	89797	broad.mit.edu	37	11	19955796	19955796	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:19955796C>A	uc001mpr.3	+	c.2006C>A	c.(2005-2007)ACT>AAT	p.T669N	NAV2_uc001mpp.2_Missense_Mutation_p.T605N|NAV2_uc010rdm.1_Missense_Mutation_p.T692N	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	692						nucleus	ATP binding|helicase activity			ovary(1)|pancreas(1)	2														0.3125	120.851599	124.858441	40	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19955796	19955796	10580	11	C	A	A	A	260	20	NAV2	2	2
DBX1	120237	broad.mit.edu	37	11	20177828	20177828	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20177828G>T	uc001mpw.1	-	c.1081C>A	c.(1081-1083)CCT>ACT	p.P361T		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	322					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.333333	69.801412	71.499149	23	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20177828	20177828	4430	11	G	T	T	T	572	44	DBX1	2	2
OR52A1	23538	broad.mit.edu	37	11	5173255	5173255	+	Silent	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5173255G>A	uc010qyy.1	-	c.345C>T	c.(343-345)GGC>GGT	p.G115G		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A,	115	Helical; Name=3; (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.384615	84.826624	85.738585	30	48	KEEP	---	---	---	---	capture		Silent	SNP	5173255	5173255	11518	11	G	A	A	A	587	46	OR52A1	2	2
OR4C6	219432	broad.mit.edu	37	11	55433035	55433035	+	Silent	SNP	G	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55433035G>C	uc001nht.3	+	c.393G>C	c.(391-393)ACG>ACC	p.T131T	OR4C6_uc010rik.1_Silent_p.T131T	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.286822	239.858248	250.366214	74	184	KEEP	---	---	---	---	capture		Silent	SNP	55433035	55433035	11459	11	G	C	C	C	470	37	OR4C6	3	3
OR5T2	219464	broad.mit.edu	37	11	56000141	56000141	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56000141C>A	uc010rjc.1	-	c.521G>T	c.(520-522)AGC>ATC	p.S174I		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	174	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.36618	924.694631	937.624016	301	521	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56000141	56000141	11592	11	C	A	A	A	364	28	OR5T2	2	2
OR56A1	120796	broad.mit.edu	37	11	6048560	6048560	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6048560C>A	uc010qzw.1	-	c.375G>T	c.(373-375)ATG>ATT	p.M125I		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	125	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.347913	539.866101	550.138732	175	328	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6048560	6048560	11543	11	C	A	A	A	273	21	OR56A1	2	2
PPP2R5B	5526	broad.mit.edu	37	11	64695897	64695897	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64695897G>T	uc001oby.2	+	c.722G>T	c.(721-723)CGG>CTG	p.R241L	PPP2R5B_uc001obz.2_Missense_Mutation_p.R241L	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	241					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2														0.236842	50.210901	55.021039	18	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64695897	64695897	12829	11	G	T	T	T	507	39	PPP2R5B	1	1
OR10A4	283297	broad.mit.edu	37	11	6898596	6898596	+	Missense_Mutation	SNP	T	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6898596T>G	uc010rat.1	+	c.718T>G	c.(718-720)TCC>GCC	p.S240A		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.1261	67.828337	114.543452	43	298	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6898596	6898596	11298	11	T	G	G	G	702	54	OR10A4	4	4
NEU3	10825	broad.mit.edu	37	11	74716538	74716538	+	Silent	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:74716538G>A	uc001ovw.2	+	c.387G>A	c.(385-387)AAG>AAA	p.K129K	NEU3_uc001ovv.2_Silent_p.K119K|NEU3_uc010rrl.1_Silent_p.K20K	NM_006656	NP_006647	A8K327	A8K327_HUMAN	sialidase 3	129										ovary(2)	2														0.291667	82.860218	86.592677	28	68	KEEP	---	---	---	---	capture		Silent	SNP	74716538	74716538	10742	11	G	A	A	A	425	33	NEU3	2	2
FAT3	120114	broad.mit.edu	37	11	92531939	92531939	+	Nonsense_Mutation	SNP	C	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92531939C>G	uc001pdj.3	+	c.5760C>G	c.(5758-5760)TAC>TAG	p.Y1920*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1920	Cadherin 17.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.376238	126.623228	127.98194	38	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	92531939	92531939	5927	11	C	G	G	G	220	17	FAT3	5	3
FAT3	120114	broad.mit.edu	37	11	92623916	92623916	+	Silent	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92623916C>A	uc001pdj.3	+	c.13311C>A	c.(13309-13311)TCC>TCA	p.S4437S	FAT3_uc001pdi.3_Silent_p.S909S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4469	Pro-rich.|Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.384615	32.244792	32.547973	10	16	KEEP	---	---	---	---	capture		Silent	SNP	92623916	92623916	5927	11	C	A	A	A	275	22	FAT3	2	2
CMKLR1	1240	broad.mit.edu	37	12	108686420	108686420	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108686420A>G	uc009zuw.2	-	c.320T>C	c.(319-321)TTC>TCC	p.F107S	CMKLR1_uc001tmw.2_Missense_Mutation_p.F107S|CMKLR1_uc001tmv.2_Missense_Mutation_p.F105S|CMKLR1_uc009zuv.2_Missense_Mutation_p.F107S	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	107	Extracellular (Potential).				chemotaxis|immune response|positive regulation of macrophage chemotaxis|skeletal system development	integral to plasma membrane	chemokine receptor activity			ovary(1)	1														0.291045	366.921974	382.640402	117	285	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108686420	108686420	3717	12	A	G	G	G	117	9	CMKLR1	4	4
EP400	57634	broad.mit.edu	37	12	132510236	132510236	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:132510236G>T	uc001ujn.2	+	c.4901G>T	c.(4900-4902)CGA>CTA	p.R1634L	EP400_uc001ujl.2_Missense_Mutation_p.R1633L|EP400_uc001ujm.2_Missense_Mutation_p.R1553L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1670					histone H2A acetylation|histone H4 acetylation	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)										0.347826	21.290788	21.761878	8	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132510236	132510236	5342	12	G	T	T	T	481	37	EP400	1	1
POLE	5426	broad.mit.edu	37	12	133256576	133256576	+	Silent	SNP	T	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133256576T>C	uc001uks.1	-	c.387A>G	c.(385-387)GCA>GCG	p.A129A	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.A102A	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	129					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)										0.382716	102.418498	103.390891	31	50	KEEP	---	---	---	---	capture		Silent	SNP	133256576	133256576	12624	12	T	C	C	C	808	63	POLE	4	4
TMEM117	84216	broad.mit.edu	37	12	44781901	44781901	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:44781901G>C	uc001rod.2	+	c.991G>C	c.(991-993)GGG>CGG	p.G331R	TMEM117_uc001roe.2_Missense_Mutation_p.G227R|TMEM117_uc009zkc.2_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	331						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)										0.304348	62.745579	65.104199	21	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44781901	44781901	16562	12	G	C	C	C	611	47	TMEM117	3	3
RHEBL1	121268	broad.mit.edu	37	12	49463563	49463563	+	Silent	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49463563C>A	uc001rtc.1	-	c.6G>T	c.(4-6)CCG>CCT	p.P2P	RHEBL1_uc001rtd.1_5'UTR|RHEBL1_uc009zlc.1_Non-coding_Transcript	NM_144593	NP_653194	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1 precursor	2					positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding			lung(1)	1														0.384615	30.330241	30.637846	10	16	KEEP	---	---	---	---	capture		Silent	SNP	49463563	49463563	13804	12	C	A	A	A	340	27	RHEBL1	1	1
TMPRSS12	283471	broad.mit.edu	37	12	51279140	51279140	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51279140G>A	uc001rwx.3	+	c.764G>A	c.(763-765)GGT>GAT	p.G255D	TMPRSS12_uc001rwy.2_Missense_Mutation_p.G255D	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane protease, serine 12 precursor	255	Peptidase S1.|Extracellular (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity				0														0.360923	834.128164	846.684871	266	471	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51279140	51279140	16785	12	G	A	A	A	572	44	TMPRSS12	2	2
KRT85	3891	broad.mit.edu	37	12	52761049	52761049	+	Silent	SNP	C	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52761049C>T	uc001sag.2	-	c.141G>A	c.(139-141)GGG>GGA	p.G47G		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	47	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)										0.25	15.937828	17.301677	6	18	KEEP	---	---	---	---	capture		Silent	SNP	52761049	52761049	8814	12	C	T	T	T	327	26	KRT85	2	2
KRT3	3850	broad.mit.edu	37	12	53189527	53189527	+	Silent	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53189527G>T	uc001say.2	-	c.300C>A	c.(298-300)GGC>GGA	p.G100G		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	100	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0														0.375	27.268757	27.598098	9	15	KEEP	---	---	---	---	capture		Silent	SNP	53189527	53189527	8781	12	G	T	T	T	431	34	KRT3	2	2
NCKAP1L	3071	broad.mit.edu	37	12	54925554	54925554	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54925554C>A	uc001sgc.3	+	c.2726C>A	c.(2725-2727)ACC>AAC	p.T909N	NCKAP1L_uc010sox.1_Missense_Mutation_p.T451N|NCKAP1L_uc010soy.1_Missense_Mutation_p.T859N	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	909					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4														0.266187	110.309004	117.175908	37	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54925554	54925554	10621	12	C	A	A	A	234	18	NCKAP1L	2	2
B4GALNT1	2583	broad.mit.edu	37	12	58023958	58023958	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:58023958T>C	uc001spg.1	-	c.689A>G	c.(688-690)TAC>TGC	p.Y230C	B4GALNT1_uc010sru.1_Missense_Mutation_p.Y175C|B4GALNT1_uc010srv.1_Missense_Mutation_p.Y230C|B4GALNT1_uc001sph.2_Missense_Mutation_p.Y230C|B4GALNT1_uc001spi.2_Missense_Mutation_p.Y230C	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	230	Lumenal (Potential).				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity				0	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)											0.275362	120.49716	126.762796	38	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58023958	58023958	1287	12	T	C	C	C	741	57	B4GALNT1	4	4
ZFC3H1	196441	broad.mit.edu	37	12	72038818	72038818	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:72038818T>A	uc001swo.2	-	c.1118A>T	c.(1117-1119)CAG>CTG	p.Q373L		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	373	Potential.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4														0.279412	58.095181	61.070912	19	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72038818	72038818	18221	12	T	A	A	A	715	55	ZFC3H1	3	3
ANKS1B	56899	broad.mit.edu	37	12	99837534	99837534	+	Missense_Mutation	SNP	T	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:99837534T>G	uc001tge.1	-	c.1492A>C	c.(1492-1494)AGC>CGC	p.S498R	ANKS1B_uc001tgf.1_Missense_Mutation_p.S78R|ANKS1B_uc009ztt.1_Missense_Mutation_p.S464R	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	498						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)										0.324242	317.490556	326.548776	107	223	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99837534	99837534	697	12	T	G	G	G	715	55	ANKS1B	4	4
COL4A1	1282	broad.mit.edu	37	13	110862504	110862504	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110862504C>G	uc001vqw.3	-	c.524G>C	c.(523-525)AGA>ACA	p.R175T	COL4A1_uc010agl.2_Missense_Mutation_p.R175T	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	175	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)											0.495238	193.500863	193.502928	52	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110862504	110862504	3827	13	C	G	G	G	416	32	COL4A1	3	3
PSPC1	55269	broad.mit.edu	37	13	20279867	20279867	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:20279867G>T	uc001uml.2	-	c.1321C>A	c.(1321-1323)CCT>ACT	p.P441T	PSPC1_uc001umj.1_Intron|PSPC1_uc001umk.1_Intron	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	441	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)										0.153846	17.505277	24.95481	10	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20279867	20279867	13170	13	G	T	T	T	533	41	PSPC1	2	2
OR4K15	81127	broad.mit.edu	37	14	20443793	20443793	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20443793T>A	uc010tkx.1	+	c.116T>A	c.(115-117)CTG>CAG	p.L39Q		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	39	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.409006	728.959092	732.812961	218	315	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20443793	20443793	11480	14	T	A	A	A	715	55	OR4K15	3	3
HAUS4	54930	broad.mit.edu	37	14	23421768	23421768	+	Silent	SNP	T	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23421768T>C	uc001whp.2	-	c.180A>G	c.(178-180)CTA>CTG	p.L60L	HAUS4_uc001who.2_Non-coding_Transcript|HAUS4_uc001whq.2_Silent_p.L60L|HAUS4_uc001whr.2_Silent_p.L60L|HAUS4_uc001whs.2_Silent_p.L60L|HAUS4_uc001wht.2_Silent_p.L60L|HAUS4_uc001whu.2_Silent_p.L60L|HAUS4_uc001whv.2_Intron|HAUS4_uc001whw.2_Silent_p.L60L|HAUS4_uc001whx.2_Silent_p.L60L	NM_017815	NP_060285	Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	60					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|microtubule|microtubule organizing center|spindle				ovary(1)	1														0.311475	124.980057	128.856778	38	84	KEEP	---	---	---	---	capture		Silent	SNP	23421768	23421768	7250	14	T	C	C	C	678	53	HAUS4	4	4
CDKL1	8814	broad.mit.edu	37	14	50877348	50877348	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:50877348C>G	uc010anu.1	-	c.55G>C	c.(55-57)GAC>CAC	p.D19H		NM_004196	NP_004187	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1	Error:Variant_position_missing_in_Q00532_after_alignment					protein phosphorylation	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1	all_epithelial(31;0.000746)|Breast(41;0.0102)									153				0.3375	185.699496	189.436882	54	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50877348	50877348	3282	14	C	G	G	G	365	29	CDKL1	3	3
C14orf105	55195	broad.mit.edu	37	14	57960335	57960335	+	Silent	SNP	A	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:57960335A>G	uc010trl.1	-	c.99T>C	c.(97-99)TTT>TTC	p.F33F	C14orf105_uc001xcy.2_Silent_p.F33F|C14orf105_uc010trm.1_5'UTR|C14orf105_uc010trn.1_5'UTR|C14orf105_uc001xcz.2_Silent_p.F33F|C14orf105_uc010aox.1_Non-coding_Transcript|C14orf105_uc010aoy.1_5'UTR	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	hypothetical protein LOC55195	33											0														0.299065	289.576752	301.157574	96	225	KEEP	---	---	---	---	capture		Silent	SNP	57960335	57960335	1785	14	A	G	G	G	63	5	C14orf105	4	4
GABRA5	2558	broad.mit.edu	37	15	27128556	27128556	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:27128556C>T	uc001zbd.1	+	c.349C>T	c.(349-351)CGC>TGC	p.R117C	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	117	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.388889	178.171882	179.72801	56	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27128556	27128556	6415	15	C	T	T	T	351	27	GABRA5	1	1
HERC2	8924	broad.mit.edu	37	15	28424343	28424343	+	Silent	SNP	T	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28424343T>C	uc001zbj.2	-	c.8964A>G	c.(8962-8964)ACA>ACG	p.T2988T		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2988	RCC1 6.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)						1580				0.5	130.250195	130.250195	38	38	KEEP	---	---	---	---	capture		Silent	SNP	28424343	28424343	7341	15	T	C	C	C	756	59	HERC2	4	4
C15orf55	256646	broad.mit.edu	37	15	34648810	34648810	+	Silent	SNP	T	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34648810T>C	uc010ucc.1	+	c.2601T>C	c.(2599-2601)GGT>GGC	p.G867G	C15orf55_uc010ucd.1_Silent_p.G857G|C15orf55_uc001zif.2_Silent_p.G839G	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	839						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)						408				0.127907	43.234186	66.437134	22	150	KEEP	---	---	---	---	capture		Silent	SNP	34648810	34648810	1853	15	T	C	C	C	769	60	C15orf55	4	4
COQ7	10229	broad.mit.edu	37	16	19087069	19087069	+	Nonsense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:19087069G>T	uc002dfr.2	+	c.394G>T	c.(394-396)GAA>TAA	p.E132*	COQ7_uc002dfs.2_Nonsense_Mutation_p.E118*	NM_016138	NP_057222	Q99807	COQ7_HUMAN	COQ7 protein	132	2.|2 X approximate tandem repeats.				protein metabolic process|ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding				0														0.136752	23.412527	38.366674	16	101	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	19087069	19087069	3888	16	G	T	T	T	533	41	COQ7	5	2
QPRT	23475	broad.mit.edu	37	16	29708623	29708623	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:29708623C>A	uc002dto.2	+	c.785C>A	c.(784-786)CCG>CAG	p.P262Q	BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.1_Non-coding_Transcript	NM_014298	NP_055113	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	262					protein oligomerization|quinolinate catabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity				0					Niacin(DB00627)									0.547619	77.930368	78.01364	23	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29708623	29708623	13334	16	C	A	A	A	299	23	QPRT	1	1
ITGAM	3684	broad.mit.edu	37	16	31273080	31273080	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31273080G>T	uc002ebr.2	+	c.96G>T	c.(94-96)AGG>AGT	p.R32S	ITGAM_uc002ebq.2_Missense_Mutation_p.R32S	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	integrin alpha M isoform 1 precursor	32	FG-GAP 1.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1														0.375	309.285633	312.897068	99	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31273080	31273080	8191	16	G	T	T	T	555	43	ITGAM	2	2
IRX6	79190	broad.mit.edu	37	16	55361675	55361675	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55361675C>A	uc002ehy.2	+	c.591C>A	c.(589-591)TTC>TTA	p.F197L	IRX6_uc002ehx.2_Missense_Mutation_p.F197L|IRX6_uc010ccb.1_Non-coding_Transcript	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	197	Homeobox; TALE-type.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			central_nervous_system(5)|ovary(1)	6														0.304348	64.149557	66.505784	21	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55361675	55361675	8152	16	C	A	A	A	402	31	IRX6	1	1
PKD1L2	114780	broad.mit.edu	37	16	81187704	81187704	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:81187704G>C	uc002fgh.1	-	c.4268C>G	c.(4267-4269)CCC>CGC	p.P1423R	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1423	Cytoplasmic (Potential).|PLAT.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.428571	18.547466	18.609841	6	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81187704	81187704	12389	16	G	C	C	C	559	43	PKD1L2	3	3
ASPA	443	broad.mit.edu	37	17	3385072	3385072	+	Nonsense_Mutation	SNP	C	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3385072C>T	uc010ckg.2	+	c.412C>T	c.(412-414)CAG>TAG	p.Q138*	SPATA22_uc010vrg.1_Intron|ASPA_uc002fvq.2_Nonsense_Mutation_p.Q138*	NM_001128085	NP_001121557	P45381	ACY2_HUMAN	aspartoacylase	138					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding				0					L-Aspartic Acid(DB00128)									0.208333	12.4608	14.352025	5	19	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	3385072	3385072	1069	17	C	T	T	T	377	29	ASPA	5	2
MED24	9862	broad.mit.edu	37	17	38192396	38192396	+	Silent	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38192396G>A	uc002hts.2	-	c.300C>T	c.(298-300)TAC>TAT	p.Y100Y	MED24_uc010wes.1_5'Flank|MED24_uc010wet.1_Non-coding_Transcript|MED24_uc002htt.2_Silent_p.Y75Y|MED24_uc002htu.2_Intron|MED24_uc010cwn.2_Intron|MED24_uc010weu.1_Missense_Mutation_p.T10I|MED24_uc010wev.1_Silent_p.Y25Y|MED24_uc010wew.1_Silent_p.Y4Y|MED24_uc010wex.1_Missense_Mutation_p.T10I|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Silent_p.Y25Y|MED24_uc010wfb.1_Intron|MED24_uc010wfc.1_Intron	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	75					androgen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)													0.285714	221.241244	231.913665	74	185	KEEP	---	---	---	---	capture		Silent	SNP	38192396	38192396	9831	17	G	A	A	A	464	36	MED24	2	2
KRT32	3882	broad.mit.edu	37	17	39620561	39620561	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39620561C>A	uc002hwr.2	-	c.843G>T	c.(841-843)AGG>AGT	p.R281S		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	281	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)												0.338235	68.902053	70.476585	23	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39620561	39620561	8783	17	C	A	A	A	285	22	KRT32	2	2
KIF2B	84643	broad.mit.edu	37	17	51900791	51900791	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51900791G>T	uc002iua.2	+	c.397G>T	c.(397-399)GTG>TTG	p.V133L		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	133					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.331395	174.414754	178.748188	57	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51900791	51900791	8609	17	G	T	T	T	624	48	KIF2B	2	2
EPX	8288	broad.mit.edu	37	17	56270454	56270454	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56270454G>C	uc002ivq.2	+	c.132G>C	c.(130-132)AAG>AAC	p.K44N		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	44					hydrogen peroxide catabolic process|oxidation-reduction process		heme binding|peroxidase activity|protein binding			ovary(2)	2														0.331507	405.765199	414.940048	121	244	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56270454	56270454	5393	17	G	C	C	C	464	36	EPX	3	3
BCAS3	54828	broad.mit.edu	37	17	59469394	59469394	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:59469394G>A	uc002iyv.3	+	c.2695G>A	c.(2695-2697)GGC>AGC	p.G899S	BCAS3_uc002iyu.3_Missense_Mutation_p.G884S|BCAS3_uc002iyw.3_3'UTR|BCAS3_uc002iyy.3_Missense_Mutation_p.G655S|BCAS3_uc002iyz.3_Missense_Mutation_p.G475S|BCAS3_uc002iza.3_Missense_Mutation_p.G460S|BCAS3_uc002izb.3_Non-coding_Transcript|BCAS3_uc002izc.3_Non-coding_Transcript|BCAS3_uc002izd.3_5'UTR	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	899						nucleus				ovary(2)|central_nervous_system(2)	4			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)											0.25	14.765394	15.901458	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59469394	59469394	1373	17	G	A	A	A	507	39	BCAS3	1	1
TEKT1	83659	broad.mit.edu	37	17	6704148	6704148	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:6704148G>C	uc002gdt.2	-	c.967C>G	c.(967-969)CGG>GGG	p.R323G	TEKT1_uc010vth.1_Missense_Mutation_p.R177G	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	tektin 1	323					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)	1		Myeloproliferative disorder(207;0.0255)										OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.4637	704.430206	704.91782	198	229	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6704148	6704148	16279	17	G	C	C	C	506	39	TEKT1	3	3
ABCA5	23461	broad.mit.edu	37	17	67300882	67300882	+	Silent	SNP	T	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67300882T>C	uc002jif.2	-	c.858A>G	c.(856-858)ACA>ACG	p.T286T	ABCA5_uc002jie.2_5'Flank|ABCA5_uc002jig.2_Silent_p.T286T|ABCA5_uc002jih.2_Silent_p.T286T|ABCA5_uc010dfe.2_Silent_p.T286T	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	286					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation|reverse cholesterol transport	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)	3	Breast(10;3.72e-11)													0.295652	109.304664	113.600168	34	81	KEEP	---	---	---	---	capture		Silent	SNP	67300882	67300882	36	17	T	C	C	C	704	55	ABCA5	4	4
GPR142	350383	broad.mit.edu	37	17	72368476	72368476	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72368476G>C	uc010wqy.1	+	c.1126G>C	c.(1126-1128)GTC>CTC	p.V376L	GPR142_uc010wqx.1_Missense_Mutation_p.V288L	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	376	Helical; Name=6; (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3														0.305882	81.420017	84.275423	26	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72368476	72368476	6924	17	G	C	C	C	520	40	GPR142	3	3
TP53	7157	broad.mit.edu	37	17	7578469	7578469	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578469C>A	uc002gim.2	-	c.461G>T	c.(460-462)GGC>GTC	p.G154V	TP53_uc002gig.1_Missense_Mutation_p.G154V|TP53_uc002gih.2_Missense_Mutation_p.G154V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G22V|TP53_uc010cng.1_Missense_Mutation_p.G22V|TP53_uc002gii.1_Missense_Mutation_p.G22V|TP53_uc010cnh.1_Missense_Mutation_p.G154V|TP53_uc010cni.1_Missense_Mutation_p.G154V|TP53_uc002gij.2_Missense_Mutation_p.G154V|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G61V|TP53_uc002gio.2_Missense_Mutation_p.G22V|TP53_uc010vug.1_Missense_Mutation_p.G115V	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	154	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		G -> D (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.G154V(35)|p.0?(6)|p.G154D(6)|p.P152fs*14(4)|p.G154I(3)|p.P153fs*26(2)|p.P153fs*22(2)|p.G154fs*14(2)|p.D148_T155delDSTPPPGT(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)|p.P151_V173del23(1)|p.D148fs*23(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154A(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.P152fs(RH41-Tumor)|p.G154V(NCIH446-Tumor)|p.G154V(NCIH2291-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.59633	209.990399	210.873646	65	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7578469	7578469	16923	17	C	A	A	A	338	26	TP53	2	2
WRAP53	55135	broad.mit.edu	37	17	7592605	7592605	+	Silent	SNP	C	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7592605C>T	uc010vuh.1	+	c.495C>T	c.(493-495)AGC>AGT	p.S165S	WRAP53_uc010vui.1_Silent_p.S165S|WRAP53_uc002gip.2_Silent_p.S165S|WRAP53_uc002gir.2_Silent_p.S165S|WRAP53_uc002giq.2_Non-coding_Transcript|WRAP53_uc010cnl.2_Intron|TP53_uc010cnh.1_5'Flank|TP53_uc010cni.1_5'Flank|TP53_uc002gim.2_5'Flank|TP53_uc002gij.2_5'Flank|TP53_uc002gin.2_5'Flank|TP53_uc002gio.2_5'Flank|TP53_uc010vug.1_5'Flank|TP53_uc010cnk.1_5'Flank	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN	WD repeat domain 79 isoform 2	165					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding				0														0.333333	40.434906	41.468679	14	28	KEEP	---	---	---	---	capture		Silent	SNP	7592605	7592605	17974	17	C	T	T	T	324	25	WRAP53	2	2
TNRC6C	57690	broad.mit.edu	37	17	76060929	76060929	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:76060929G>A	uc002juf.2	+	c.2513G>A	c.(2512-2514)GGC>GAC	p.G838D	TNRC6C_uc002jud.2_Missense_Mutation_p.G841D|TNRC6C_uc002jue.2_Missense_Mutation_p.G838D	NM_001142640	NP_001136112	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 1	841	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)											0.096774	7.90257	33.166643	15	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76060929	76060929	16883	17	G	A	A	A	546	42	TNRC6C	2	2
DSC2	1824	broad.mit.edu	37	18	28663009	28663009	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28663009C>A	uc002kwl.3	-	c.960G>T	c.(958-960)CAG>CAT	p.Q320H	DSC2_uc002kwk.3_Missense_Mutation_p.Q320H	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	320	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.0241)											0.157143	23.476564	31.328325	11	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28663009	28663009	4950	18	C	A	A	A	259	20	DSC2	2	2
CYP4F22	126410	broad.mit.edu	37	19	15651310	15651310	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15651310G>T	uc002nbh.3	+	c.721G>T	c.(721-723)GTC>TTC	p.V241F		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	241					oxidation-reduction process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity			pancreas(1)	1														0.272727	89.500596	94.621974	30	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15651310	15651310	4354	19	G	T	T	T	624	48	CYP4F22	2	2
OR10H4	126541	broad.mit.edu	37	19	16060247	16060247	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16060247C>G	uc010xov.1	+	c.430C>G	c.(430-432)CAT>GAT	p.H144D		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2														0.309609	267.435605	276.502527	87	194	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16060247	16060247	11314	19	C	G	G	G	273	21	OR10H4	3	3
FAM129C	199786	broad.mit.edu	37	19	17643134	17643134	+	Silent	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17643134G>T	uc010xpr.1	+	c.342G>T	c.(340-342)CGG>CGT	p.R114R	FAM129C_uc010xpq.1_Silent_p.R114R|FAM129C_uc010xps.1_Silent_p.R83R|FAM129C_uc010xpt.1_Non-coding_Transcript	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	114											0														0.384615	29.643405	29.947053	10	16	KEEP	---	---	---	---	capture		Silent	SNP	17643134	17643134	5635	19	G	T	T	T	561	44	FAM129C	2	2
DDX49	54555	broad.mit.edu	37	19	19033422	19033422	+	Silent	SNP	C	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19033422C>T	uc002nkq.1	+	c.645C>T	c.(643-645)ACC>ACT	p.T215T	HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_Non-coding_Transcript|DDX49_uc002nks.1_Silent_p.T108T|DDX49_uc002nkt.1_Silent_p.T97T	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	215							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			Epithelial(12;0.0289)											0.222222	16.336902	18.252294	6	21	KEEP	---	---	---	---	capture		Silent	SNP	19033422	19033422	4537	19	C	T	T	T	288	23	DDX49	1	1
ZNF208	7757	broad.mit.edu	37	19	22154060	22154060	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22154060C>A	uc002nqp.2	-	c.3392G>T	c.(3391-3393)GGC>GTC	p.G1131V	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)	5		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.21978	49.343875	55.93202	20	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22154060	22154060	18357	19	C	A	A	A	338	26	ZNF208	2	2
GRAMD1A	57655	broad.mit.edu	37	19	35500129	35500129	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35500129A>G	uc010xsf.1	+	c.130A>G	c.(130-132)ACC>GCC	p.T44A	GRAMD1A_uc002nxi.1_Missense_Mutation_p.T126A|GRAMD1A_uc010xse.1_Missense_Mutation_p.T39A|GRAMD1A_uc002nxk.2_Missense_Mutation_p.T39A|GRAMD1A_uc002nxl.2_5'UTR	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	39						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)											0.515152	57.477819	57.484514	17	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35500129	35500129	7023	19	A	G	G	G	78	6	GRAMD1A	4	4
SIGLEC14	100049587	broad.mit.edu	37	19	52149131	52149131	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52149131G>T	uc002pxf.3	-	c.604C>A	c.(604-606)CCC>ACC	p.P202T		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14 precursor	202	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			ovary(1)	1		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)										0.615385	214.51656	215.72835	64	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52149131	52149131	14804	19	G	T	T	T	559	43	SIGLEC14	2	2
PTPRH	5794	broad.mit.edu	37	19	55716908	55716908	+	Silent	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55716908G>T	uc002qjq.2	-	c.405C>A	c.(403-405)ATC>ATA	p.I135I	PTPRH_uc010esv.2_Intron|PTPRH_uc002qjs.2_Silent_p.I142I	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	135	Fibronectin type-III 2.|Extracellular (Potential).				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)	3		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)										0.581395	84.381002	84.629385	25	18	KEEP	---	---	---	---	capture		Silent	SNP	55716908	55716908	13260	19	G	T	T	T	473	37	PTPRH	1	1
NLRP13	126204	broad.mit.edu	37	19	56443508	56443508	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56443508C>A	uc010ygg.1	-	c.170G>T	c.(169-171)TGG>TTG	p.W57L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	57	DAPIN.						ATP binding			ovary(3)|skin(2)|pancreas(1)|lung(1)	7		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)										0.541667	257.452001	257.668798	78	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56443508	56443508	10878	19	C	A	A	A	273	21	NLRP13	2	2
EMR1	2015	broad.mit.edu	37	19	6935052	6935052	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:6935052A>T	uc002mfw.2	+	c.2344A>T	c.(2344-2346)AGT>TGT	p.S782C	EMR1_uc010dvc.2_Missense_Mutation_p.S717C|EMR1_uc010dvb.2_Missense_Mutation_p.S763C|EMR1_uc010xji.1_Missense_Mutation_p.S641C|EMR1_uc010xjj.1_Missense_Mutation_p.S605C	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	782	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)	3	all_hematologic(4;0.166)													0.229508	194.398949	214.852616	70	235	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6935052	6935052	5297	19	A	T	T	T	91	7	EMR1	3	3
MUC16	94025	broad.mit.edu	37	19	9071071	9071071	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9071071G>T	uc002mkp.2	-	c.16375C>A	c.(16375-16377)CTG>ATG	p.L5459M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5461	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.293132	504.568907	527.45116	175	422	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9071071	9071071	10367	19	G	T	T	T	451	35	MUC16	2	2
PDE4DIP	9659	broad.mit.edu	37	1	144855788	144855788	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:144855788C>A	uc001elw.3	-	c.6765G>T	c.(6763-6765)TGG>TGT	p.W2255C	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.W2149C|PDE4DIP_uc001elv.3_Missense_Mutation_p.W1262C	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2255					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(3)	3				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)						595				0.214876	60.688527	69.766071	26	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144855788	144855788	12064	1	C	A	A	A	390	30	PDE4DIP	2	2
LOC200030	200030	broad.mit.edu	37	1	148016411	148016411	+	Silent	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:148016411G>A	uc001eqf.2	-	c.1851C>T	c.(1849-1851)CCC>CCT	p.P617P	LOC200030_uc001eqe.2_Silent_p.P168P|LOC200030_uc001eqg.2_Silent_p.P168P|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pae.1_Intron|NBPF14_uc010paf.1_Intron|NBPF14_uc001eqq.2_Silent_p.P277P|NBPF14_uc001eqs.1_Silent_p.P156P	NM_017940	NP_060410	Q86T75	NBPFB_HUMAN	hypothetical protein LOC55672	617	NBPF 3.					cytoplasm					0														0.681548	1609.073294	1628.765454	458	214	KEEP	---	---	---	---	capture		Silent	SNP	148016411	148016411	9211	1	G	A	A	A	600	47	LOC200030	2	2
OTUD7B	56957	broad.mit.edu	37	1	149915924	149915924	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149915924C>A	uc001etn.2	-	c.2364G>T	c.(2362-2364)TGG>TGT	p.W788C		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	788					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding				0	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)											0.313846	283.995963	294.039464	102	223	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149915924	149915924	11732	1	C	A	A	A	286	22	OTUD7B	2	2
NTRK1	4914	broad.mit.edu	37	1	156845459	156845459	+	Splice_Site_SNP	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156845459G>T	uc001fqh.1	+	c.1501_splice	c.e12+1	p.C501_splice	NTRK1_uc001fqf.1_Splice_Site_SNP_p.C465_splice|NTRK1_uc009wsi.1_Splice_Site_SNP_p.C200_splice|NTRK1_uc001fqi.1_Splice_Site_SNP_p.C495_splice|NTRK1_uc009wsk.1_Splice_Site_SNP_p.S495_splice	NM_002529	NP_002520			neurotrophic tyrosine kinase, receptor, type 1						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)			0.390625	77.557504	78.228906	25	39	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	156845459	156845459	11111	1	G	T	T	T	624	48	NTRK1	5	2
CD1C	911	broad.mit.edu	37	1	158262398	158262398	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158262398C>A	uc001fru.2	+	c.623C>A	c.(622-624)GCC>GAC	p.A208D	CD1C_uc001frv.2_Missense_Mutation_p.A11D	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	208	Extracellular (Potential).|Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|pancreas(1)	3	all_hematologic(112;0.0378)													0.279635	252.330909	266.718228	92	237	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158262398	158262398	3103	1	C	A	A	A	338	26	CD1C	2	2
SPTA1	6708	broad.mit.edu	37	1	158622310	158622310	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158622310C>A	uc001fst.1	-	c.3322G>T	c.(3322-3324)GTG>TTG	p.V1108L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1108	Spectrin 11.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.296703	247.311038	257.376016	81	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158622310	158622310	15630	1	C	A	A	A	260	20	SPTA1	2	2
OLFML2B	25903	broad.mit.edu	37	1	161976113	161976113	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161976113C>A	uc010pkq.1	-	c.697G>T	c.(697-699)GCA>TCA	p.A233S	OLFML2B_uc001gbu.2_Missense_Mutation_p.A233S	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	233	Poly-Ala.										0	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)											0.281768	144.245988	151.992867	51	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161976113	161976113	11263	1	C	A	A	A	325	25	OLFML2B	2	2
TNR	7143	broad.mit.edu	37	1	175331945	175331945	+	Missense_Mutation	SNP	A	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175331945A>C	uc001gkp.1	-	c.2708T>G	c.(2707-2709)GTG>GGG	p.V903G	TNR_uc009wwu.1_Missense_Mutation_p.V903G	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	903	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.30854	371.983702	383.831473	112	251	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175331945	175331945	16879	1	A	C	C	C	78	6	TNR	4	4
CACNA1E	777	broad.mit.edu	37	1	181480554	181480554	+	Silent	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181480554G>A	uc001gow.2	+	c.420G>A	c.(418-420)GGG>GGA	p.G140G	CACNA1E_uc009wxr.2_Silent_p.G47G|CACNA1E_uc009wxs.2_Silent_p.G47G	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	140	I.|Helical; Name=S2 of repeat I.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.288066	403.99465	423.57166	140	346	KEEP	---	---	---	---	capture		Silent	SNP	181480554	181480554	2658	1	G	A	A	A	522	41	CACNA1E	2	2
KIAA0090	23065	broad.mit.edu	37	1	19564614	19564614	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19564614T>C	uc001bbo.2	-	c.1109A>G	c.(1108-1110)AAT>AGT	p.N370S	KIAA0090_uc001bbp.2_Missense_Mutation_p.N370S|KIAA0090_uc001bbq.2_Missense_Mutation_p.N369S|KIAA0090_uc001bbr.2_Missense_Mutation_p.N348S	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	370	Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		GBM(4;72 124 25802 30195)								0.184783	45.220204	53.791493	17	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19564614	19564614	8460	1	T	C	C	C	676	52	KIAA0090	4	4
ASPM	259266	broad.mit.edu	37	1	197104226	197104226	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197104226C>A	uc001gtu.2	-	c.2173G>T	c.(2173-2175)GTA>TTA	p.V725L	ASPM_uc001gtv.2_Missense_Mutation_p.V725L|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	725					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.392857	32.418562	32.700023	11	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197104226	197104226	1075	1	C	A	A	A	312	24	ASPM	2	2
LAX1	54900	broad.mit.edu	37	1	203743633	203743633	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203743633G>T	uc001haa.2	+	c.1021G>T	c.(1021-1023)GCT>TCT	p.A341S	LAX1_uc010pql.1_Missense_Mutation_p.A325S|LAX1_uc001hab.2_Missense_Mutation_p.A265S	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1 isoform a	341	Cytoplasmic (Potential).				B cell activation|immune response|inactivation of MAPK activity|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)	2	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)											0.326693	248.061791	254.749831	82	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203743633	203743633	8971	1	G	T	T	T	598	46	LAX1	2	2
FAM71A	149647	broad.mit.edu	37	1	212799160	212799160	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:212799160G>T	uc001hjk.2	+	c.941G>T	c.(940-942)GGG>GTG	p.G314V		NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	314	Ala-rich.									ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)										0.301887	42.367153	44.232692	16	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	212799160	212799160	5830	1	G	T	T	T	559	43	FAM71A	2	2
CDC42BPA	8476	broad.mit.edu	37	1	227218999	227218999	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:227218999C>G	uc001hqr.2	-	c.3670G>C	c.(3670-3672)GAT>CAT	p.D1224H	CDC42BPA_uc001hqq.2_Missense_Mutation_p.D523H|CDC42BPA_uc001hqs.2_Missense_Mutation_p.D1143H|CDC42BPA_uc009xes.2_Missense_Mutation_p.D1196H|CDC42BPA_uc010pvs.1_Missense_Mutation_p.D1204H|CDC42BPA_uc001hqp.2_Missense_Mutation_p.D380H|CDC42BPA_uc001hqt.2_Missense_Mutation_p.D102H|CDC42BPA_uc001hqu.1_Missense_Mutation_p.D431H	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	1237	CNH.				actin cytoskeleton reorganization|intracellular signal transduction|protein phosphorylation	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|ovary(1)|pancreas(1)	10		all_cancers(173;0.156)|Prostate(94;0.0792)								1574				0.333333	129.697679	133.095727	46	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	227218999	227218999	3200	1	C	G	G	G	312	24	CDC42BPA	3	3
MTR	4548	broad.mit.edu	37	1	237052487	237052487	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237052487C>T	uc001hyi.3	+	c.2858C>T	c.(2857-2859)CCC>CTC	p.P953L	MTR_uc010pxw.1_Missense_Mutation_p.P546L|MTR_uc010pxx.1_Missense_Mutation_p.P902L|MTR_uc010pxy.1_Missense_Mutation_p.P807L	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	953	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)									0.267677	153.482004	163.133705	53	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237052487	237052487	10351	1	C	T	T	T	286	22	MTR	2	2
RYR2	6262	broad.mit.edu	37	1	237947310	237947310	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237947310G>A	uc001hyl.1	+	c.12298G>A	c.(12298-12300)GTC>ATC	p.V4100I	RYR2_uc010pya.1_Missense_Mutation_p.V515I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4100					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.166667	19.985497	26.939977	11	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237947310	237947310	14249	1	G	A	A	A	520	40	RYR2	1	1
OR14A16	284532	broad.mit.edu	37	1	247978341	247978341	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247978341C>T	uc001idm.1	-	c.691G>A	c.(691-693)GGC>AGC	p.G231S		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						Ovarian(112;180 1586 15073 21914 33526)								0.332278	336.055518	343.937158	105	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247978341	247978341	11351	1	C	T	T	T	312	24	OR14A16	2	2
OR2W3	343171	broad.mit.edu	37	1	248059153	248059153	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248059153G>T	uc001idp.1	+	c.265G>T	c.(265-267)GAC>TAC	p.D89Y	OR2W3_uc010pzb.1_Missense_Mutation_p.D89Y	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.285714	212.468937	224.017833	80	200	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248059153	248059153	11439	1	G	T	T	T	585	45	OR2W3	2	2
OR2T2	401992	broad.mit.edu	37	1	248616138	248616139	+	Missense_Mutation	DNP	GT	AG	AG			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248616138_248616139GT>AG	uc001iek.1	+	c.40_41GT>AG	c.(40-42)GTC>AGC	p.V14S		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.109489	37.483557	78.844723	30	244	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	248616138	248616139	11426	1	GT	AG	AG	AG	520	40	OR2T2	1	1
OR2T10	127069	broad.mit.edu	37	1	248757058	248757058	+	Silent	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248757058G>T	uc010pzn.1	-	c.12C>A	c.(10-12)GCC>GCA	p.A4A		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T,	4	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.328244	129.278204	132.705864	43	88	KEEP	---	---	---	---	capture		Silent	SNP	248757058	248757058	11423	1	G	T	T	T	600	47	OR2T10	2	2
OR14I1	401994	broad.mit.edu	37	1	248845133	248845133	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248845133G>T	uc001ieu.1	-	c.473C>A	c.(472-474)ACT>AAT	p.T158N		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.288889	75.911231	79.508082	26	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248845133	248845133	11353	1	G	T	T	T	468	36	OR14I1	2	2
CSMD2	114784	broad.mit.edu	37	1	34312507	34312507	+	Silent	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34312507G>A	uc001bxm.1	-	c.1011C>T	c.(1009-1011)CGC>CGT	p.R337R	CSMD2_uc001bxn.1_Silent_p.R297R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	297	CUB 2.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.740933	991.788604	1012.078971	286	100	KEEP	---	---	---	---	capture		Silent	SNP	34312507	34312507	4086	1	G	A	A	A	483	38	CSMD2	1	1
KIAA0467	23334	broad.mit.edu	37	1	43907004	43907004	+	Silent	SNP	T	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43907004T>C	uc001cjk.1	+	c.4767T>C	c.(4765-4767)GGT>GGC	p.G1589G		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2488						peroxisome				breast(6)|ovary(4)|pancreas(1)	11	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.717949	188.606235	191.927754	56	22	KEEP	---	---	---	---	capture		Silent	SNP	43907004	43907004	8485	1	T	C	C	C	756	59	KIAA0467	4	4
SSTR4	6754	broad.mit.edu	37	20	23016506	23016506	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23016506A>T	uc002wsr.2	+	c.386A>T	c.(385-387)AAC>ATC	p.N129I		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	129	Helical; Name=3; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					Esophageal Squamous(15;850 1104 16640)								0.689655	136.721081	138.579835	40	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23016506	23016506	15716	20	A	T	T	T	26	2	SSTR4	3	3
SIGLEC1	6614	broad.mit.edu	37	20	3684492	3684492	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3684492G>A	uc002wja.2	-	c.953C>T	c.(952-954)CCC>CTC	p.P318L	SIGLEC1_uc002wiz.3_Missense_Mutation_p.P318L|SIGLEC1_uc002wjc.2_Missense_Mutation_p.P229L	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	318	Ig-like C2-type 2.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|breast(1)|central_nervous_system(1)	8														0.48	77.289544	77.30731	24	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3684492	3684492	14800	20	G	A	A	A	559	43	SIGLEC1	2	2
BPI	671	broad.mit.edu	37	20	36964032	36964032	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36964032C>A	uc002xib.2	+	c.1381C>A	c.(1381-1383)CCG>ACG	p.P461T		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	461					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)												0.5	319.542517	319.542517	98	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36964032	36964032	1518	20	C	A	A	A	338	26	BPI	2	2
RALGAPB	57148	broad.mit.edu	37	20	37126007	37126007	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:37126007G>T	uc002xiw.2	+	c.401G>T	c.(400-402)GGT>GTT	p.G134V	RALGAPB_uc010zvz.1_Missense_Mutation_p.G134V|RALGAPB_uc002xix.2_Missense_Mutation_p.G134V|RALGAPB_uc002xiy.1_Missense_Mutation_p.G134V|RALGAPB_uc002xiz.2_Intron	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	134					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)	1														0.678571	130.86705	132.451882	38	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37126007	37126007	13475	20	G	T	T	T	572	44	RALGAPB	2	2
NFATC2	4773	broad.mit.edu	37	20	50092041	50092041	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:50092041T>C	uc002xwd.2	-	c.1489A>G	c.(1489-1491)AAA>GAA	p.K497E	NFATC2_uc002xwc.2_Missense_Mutation_p.K497E|NFATC2_uc010zyv.1_Missense_Mutation_p.K278E|NFATC2_uc010zyw.1_Missense_Mutation_p.K278E|NFATC2_uc010zyx.1_Missense_Mutation_p.K477E|NFATC2_uc010zyy.1_Missense_Mutation_p.K278E|NFATC2_uc010zyz.1_Missense_Mutation_p.K278E|NFATC2_uc002xwe.2_Missense_Mutation_p.K477E	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	497	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(2)	2	Hepatocellular(150;0.248)													0.511211	404.352553	404.376816	114	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50092041	50092041	10762	20	T	C	C	C	819	63	NFATC2	4	4
OPRL1	4987	broad.mit.edu	37	20	62729409	62729409	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62729409C>A	uc002yic.2	+	c.488C>A	c.(487-489)ACG>AAG	p.T163K	OPRL1_uc002yid.2_Missense_Mutation_p.T163K|OPRL1_uc002yif.3_Missense_Mutation_p.T158K	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	163	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)	1	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)													0.230769	8.918507	9.781689	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62729409	62729409	11292	20	C	A	A	A	247	19	OPRL1	1	1
TPTE	7179	broad.mit.edu	37	21	10910395	10910395	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:10910395A>T	uc002yip.1	-	c.1361T>A	c.(1360-1362)CTT>CAT	p.L454H	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.L436H|TPTE_uc002yir.1_Missense_Mutation_p.L416H|TPTE_uc010gkv.1_Missense_Mutation_p.L316H	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	454	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)										0.193452	157.068756	186.544048	65	271	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10910395	10910395	16974	21	A	T	T	T	39	3	TPTE	3	3
MCM3AP	8888	broad.mit.edu	37	21	47699995	47699995	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:47699995T>C	uc002zir.1	-	c.1579A>G	c.(1579-1581)AGC>GGC	p.S527G		NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	527					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)									639				0.315315	109.487335	112.85399	35	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47699995	47699995	9777	21	T	C	C	C	715	55	MCM3AP	4	4
MARCO	8685	broad.mit.edu	37	2	119727780	119727780	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:119727780T>A	uc002tln.1	+	c.290T>A	c.(289-291)CTG>CAG	p.L97Q	MARCO_uc010yyf.1_Missense_Mutation_p.L19Q	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	97	Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4						GBM(8;18 374 7467 11269 32796)								0.683036	544.61943	551.295297	153	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119727780	119727780	9694	2	T	A	A	A	715	55	MARCO	3	3
MYO3B	140469	broad.mit.edu	37	2	171257993	171257993	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:171257993G>T	uc002ufy.2	+	c.1921G>T	c.(1921-1923)GCC>TCC	p.A641S	MYO3B_uc002ufv.2_Missense_Mutation_p.A628S|MYO3B_uc010fqb.1_Missense_Mutation_p.A628S|MYO3B_uc002ufz.2_Missense_Mutation_p.A641S|MYO3B_uc002ufw.2_Non-coding_Transcript|MYO3B_uc002ufx.2_Non-coding_Transcript|MYO3B_uc002ugb.2_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	641	Myosin head-like.				protein phosphorylation|response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(5)|skin(2)|central_nervous_system(1)	16										1118				0.628272	410.453442	413.218946	120	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171257993	171257993	10472	2	G	T	T	T	598	46	MYO3B	2	2
ALS2	57679	broad.mit.edu	37	2	202593271	202593271	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202593271C>A	uc002uyo.2	-	c.2805G>T	c.(2803-2805)TGG>TGT	p.W935C	ALS2_uc002uyp.3_Missense_Mutation_p.W935C|ALS2_uc010ftl.2_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	935	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				0.649351	350.159145	353.20027	100	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202593271	202593271	553	2	C	A	A	A	234	18	ALS2	2	2
ALS2	57679	broad.mit.edu	37	2	202609145	202609145	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202609145T>C	uc002uyo.2	-	c.2006A>G	c.(2005-2007)TAT>TGT	p.Y669C	ALS2_uc002uyp.3_Missense_Mutation_p.Y669C|ALS2_uc002uyq.2_Missense_Mutation_p.Y669C|ALS2_uc010ftl.2_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	669					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				0.653226	317.917487	320.489132	81	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202609145	202609145	553	2	T	C	C	C	637	49	ALS2	4	4
CPS1	1373	broad.mit.edu	37	2	211473091	211473091	+	Silent	SNP	A	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211473091A>G	uc010fur.2	+	c.2217A>G	c.(2215-2217)CCA>CCG	p.P739P	CPS1_uc002vee.3_Silent_p.P733P|CPS1_uc010fus.2_Silent_p.P282P	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	733	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.693103	638.807771	648.428207	201	89	KEEP	---	---	---	---	capture		Silent	SNP	211473091	211473091	3961	2	A	G	G	G	93	8	CPS1	4	4
IHH	3549	broad.mit.edu	37	2	219920175	219920175	+	Silent	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219920175G>A	uc002vjo.1	-	c.990C>T	c.(988-990)GCC>GCT	p.A330A		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	330					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity				0		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.8	40.90776	42.162772	12	3	KEEP	---	---	---	---	capture		Silent	SNP	219920175	219920175	7908	2	G	A	A	A	548	43	IHH	2	2
ARHGAP25	9938	broad.mit.edu	37	2	69034512	69034512	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69034512G>T	uc010fdg.2	+	c.574G>T	c.(574-576)GGC>TGC	p.G192C	ARHGAP25_uc010yqk.1_Missense_Mutation_p.G166C|ARHGAP25_uc002seu.2_Missense_Mutation_p.G191C|ARHGAP25_uc010yql.1_Missense_Mutation_p.G152C|ARHGAP25_uc002sev.2_Missense_Mutation_p.G185C|ARHGAP25_uc002sew.2_Missense_Mutation_p.G184C|ARHGAP25_uc002sex.2_Missense_Mutation_p.G185C|ARHGAP25_uc010fdh.1_Non-coding_Transcript|ARHGAP25_uc002sey.2_5'UTR	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	191	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4														0.429091	802.667972	805.067655	236	314	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69034512	69034512	886	2	G	T	T	T	507	39	ARHGAP25	1	1
RMND5A	64795	broad.mit.edu	37	2	86997154	86997154	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:86997154C>G	uc010ytm.1	+	c.863C>G	c.(862-864)GCA>GGA	p.A288G	RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Missense_Mutation_p.A288G	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog	288										ovary(1)	1														0.351801	429.605267	436.603571	127	234	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86997154	86997154	13874	2	C	G	G	G	325	25	RMND5A	3	3
ATP2B2	491	broad.mit.edu	37	3	10382279	10382279	+	Silent	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:10382279G>A	uc003bvt.2	-	c.3027C>T	c.(3025-3027)AAC>AAT	p.N1009N	ATP2B2_uc003bvv.2_Silent_p.N964N|ATP2B2_uc003bvw.2_Silent_p.N964N|ATP2B2_uc010hdo.2_Silent_p.N714N	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1009	Helical; (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|central_nervous_system(1)	4						Ovarian(125;1619 1709 15675 19819 38835)								0.230924	300.178554	333.208154	115	383	KEEP	---	---	---	---	capture		Silent	SNP	10382279	10382279	1159	3	G	A	A	A	516	40	ATP2B2	1	1
HEG1	57493	broad.mit.edu	37	3	124731954	124731954	+	Silent	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124731954G>A	uc011bke.1	-	c.2769C>T	c.(2767-2769)TCC>TCT	p.S923S	HEG1_uc003ehs.3_Silent_p.S823S	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	823	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2														0.331551	193.665151	198.377602	62	125	KEEP	---	---	---	---	capture		Silent	SNP	124731954	124731954	7327	3	G	A	A	A	600	47	HEG1	2	2
C3orf27	23434	broad.mit.edu	37	3	128292256	128292256	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:128292256T>C	uc003ekq.2	-	c.317A>G	c.(316-318)CAC>CGC	p.H106R		NM_007354	NP_031380	O15544	GR6_HUMAN	putative GR6 protein	106											0				GBM - Glioblastoma multiforme(114;0.176)										0.339806	107.492754	109.829692	35	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128292256	128292256	2312	3	T	C	C	C	767	59	C3orf27	4	4
RASA2	5922	broad.mit.edu	37	3	141259374	141259374	+	Splice_Site_SNP	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:141259374G>T	uc010huq.1	+	c.451_splice	c.e5-1	p.G151_splice	RASA2_uc003etz.1_Splice_Site_SNP_p.G151_splice|RASA2_uc003eua.1_Splice_Site_SNP_p.G151_splice|RASA2_uc011bnc.1_Splice_Site_SNP	NM_006506	NP_006497			RAS p21 protein activator 2						intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(1)	3														0.393939	209.038632	210.664043	65	100	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	141259374	141259374	13521	3	G	T	T	T	455	35	RASA2	5	2
CNTN6	27255	broad.mit.edu	37	3	1427297	1427297	+	Silent	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:1427297C>A	uc003boz.2	+	c.2520C>A	c.(2518-2520)GTC>GTA	p.V840V	CNTN6_uc011asj.1_Silent_p.V768V|CNTN6_uc003bpa.2_Silent_p.V840V	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	840	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				lung(2)|breast(2)|pancreas(1)	5		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)						1038				0.139738	53.432821	82.149589	32	197	KEEP	---	---	---	---	capture		Silent	SNP	1427297	1427297	3783	3	C	A	A	A	405	32	CNTN6	2	2
GOLIM4	27333	broad.mit.edu	37	3	167728078	167728078	+	Silent	SNP	T	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167728078T>C	uc011bpe.1	-	c.2073A>G	c.(2071-2073)TCA>TCG	p.S691S	GOLIM4_uc003ffe.2_Silent_p.S690S|GOLIM4_uc011bpf.1_Silent_p.S663S|GOLIM4_uc011bpg.1_Silent_p.S662S	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	690	Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)	4														0.245652	315.540928	342.645591	113	347	KEEP	---	---	---	---	capture		Silent	SNP	167728078	167728078	6839	3	T	C	C	C	756	59	GOLIM4	4	4
KAT2B	8850	broad.mit.edu	37	3	20167606	20167606	+	Splice_Site_SNP	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:20167606G>T	uc003cbq.2	+	c.1622_splice	c.e10+1	p.P541_splice		NM_003884	NP_003875			K(lysine) acetyltransferase 2B						cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.272727	8.119232	8.63204	3	8	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	20167606	20167606	8286	3	G	T	T	T	520	40	KAT2B	5	1
EXOSC7	23016	broad.mit.edu	37	3	45038682	45038682	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:45038682G>T	uc003coi.2	+	c.358G>T	c.(358-360)GAC>TAC	p.D120Y	EXOSC7_uc003coh.1_Missense_Mutation_p.D55Y|EXOSC7_uc011bae.1_Missense_Mutation_p.D120Y|EXOSC7_uc010his.1_Missense_Mutation_p.D39Y|EXOSC7_uc003coj.2_Missense_Mutation_p.D120Y	NM_015004	NP_055819	Q15024	EXOS7_HUMAN	exosome component 7	120					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)										0.290155	155.53285	163.142198	56	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45038682	45038682	5513	3	G	T	T	T	481	37	EXOSC7	1	1
IP6K2	51447	broad.mit.edu	37	3	48726111	48726111	+	Silent	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48726111G>A	uc003cup.2	-	c.876C>T	c.(874-876)TTC>TTT	p.F292F	NCKIPSD_uc003cum.2_5'Flank|NCKIPSD_uc003cun.2_5'Flank|NCKIPSD_uc010hkh.1_5'Flank|IP6K2_uc003cuq.2_Silent_p.F292F	NM_001005909	NP_001005909	Q9UHH9	IP6K2_HUMAN	inositol hexaphosphate kinase 2 isoform a	292					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0														0.142857	23.540812	33.866062	12	72	KEEP	---	---	---	---	capture		Silent	SNP	48726111	48726111	8090	3	G	A	A	A	425	33	IP6K2	2	2
NEK4	6787	broad.mit.edu	37	3	52794870	52794870	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52794870T>A	uc003dfq.3	-	c.904A>T	c.(904-906)AAT>TAT	p.N302Y	NEK4_uc011bej.1_Missense_Mutation_p.N213Y|NEK4_uc003dfr.2_Missense_Mutation_p.N302Y	NM_003157	NP_003148	P51957	NEK4_HUMAN	NIMA-related kinase 4	302					cell division|mitosis|protein phosphorylation	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)						346				0.496689	244.322885	244.324334	75	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52794870	52794870	10725	3	T	A	A	A	832	64	NEK4	3	3
PRICKLE2	166336	broad.mit.edu	37	3	64133210	64133210	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:64133210G>T	uc003dmf.2	-	c.956C>A	c.(955-957)TCT>TAT	p.S319Y		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	319						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)	4		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)										0.162963	45.058253	59.636139	22	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64133210	64133210	12930	3	G	T	T	T	429	33	PRICKLE2	2	2
SEC24D	9871	broad.mit.edu	37	4	119659495	119659495	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:119659495C>A	uc003icj.3	-	c.2420G>T	c.(2419-2421)CGG>CTG	p.R807L	SEC24D_uc003ich.3_Non-coding_Transcript|SEC24D_uc003ici.3_Missense_Mutation_p.R806L|SEC24D_uc003icl.2_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	806					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0														0.316923	320.021513	329.700503	103	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119659495	119659495	14483	4	C	A	A	A	299	23	SEC24D	1	1
KIAA1109	84162	broad.mit.edu	37	4	123229169	123229169	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123229169C>A	uc003ieh.2	+	c.9907C>A	c.(9907-9909)CAT>AAT	p.H3303N	KIAA1109_uc003iel.1_Missense_Mutation_p.H1238N	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3303					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.313321	510.720748	527.320561	167	366	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123229169	123229169	8516	4	C	A	A	A	221	17	KIAA1109	2	2
SLC7A11	23657	broad.mit.edu	37	4	139100436	139100436	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:139100436C>A	uc011chb.1	-	c.1379G>T	c.(1378-1380)GGA>GTA	p.G460V		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	solute carrier family 7, (cationic amino acid	460	Helical; (Potential).				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding				0	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)									0.319672	109.179777	112.706065	39	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139100436	139100436	15191	4	C	A	A	A	390	30	SLC7A11	2	2
TLR6	10333	broad.mit.edu	37	4	38831004	38831004	+	Nonsense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:38831004C>A	uc003gtm.2	-	c.91G>T	c.(91-93)GGA>TGA	p.G31*	TLR6_uc010ifg.1_Nonsense_Mutation_p.G31*	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6 precursor	31					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2														0.300469	198.218812	205.792763	64	149	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	38831004	38831004	16485	4	C	A	A	A	299	23	TLR6	5	1
SLC30A9	10463	broad.mit.edu	37	4	42003698	42003698	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:42003698G>C	uc003gwl.2	+	c.175G>C	c.(175-177)GGT>CGT	p.G59R	SLC30A9_uc011byx.1_5'UTR	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter),	59					nucleotide-excision repair|regulation of transcription, DNA-dependent|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3														0.331412	371.803283	380.544056	115	232	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42003698	42003698	15059	4	G	C	C	C	611	47	SLC30A9	3	3
STX18	53407	broad.mit.edu	37	4	4458978	4458978	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:4458978C>G	uc003gic.2	-	c.437G>C	c.(436-438)TGT>TCT	p.C146S		NM_016930	NP_058626	Q9P2W9	STX18_HUMAN	syntaxin 18	146	Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)										0.257576	161.02976	171.576234	51	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4458978	4458978	15861	4	C	G	G	G	221	17	STX18	3	3
PDGFRA	5156	broad.mit.edu	37	4	55129867	55129867	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55129867C>T	uc003han.3	+	c.401C>T	c.(400-402)ACG>ATG	p.T134M	PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_Missense_Mutation_p.T134M|PDGFRA_uc010igq.1_Missense_Mutation_p.T28M|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	134	Extracellular (Potential).|Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(532)|small_intestine(40)|stomach(16)|central_nervous_system(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|ovary(3)|skin(2)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|bone(1)	625	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	Pancreas(151;208 1913 7310 23853 37092)				1045	TSP Lung(21;0.16)			0.289231	277.125829	290.061773	94	231	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55129867	55129867	12082	4	C	T	T	T	247	19	PDGFRA	1	1
PPIP5K2	23262	broad.mit.edu	37	5	102508881	102508881	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:102508881A>G	uc003kod.3	+	c.2309A>G	c.(2308-2310)GAA>GGA	p.E770G	PPIP5K2_uc011cva.1_Non-coding_Transcript|PPIP5K2_uc003koe.2_Missense_Mutation_p.E770G|PPIP5K2_uc003kof.2_Missense_Mutation_p.E71G	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	770					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)	1														0.681319	244.686326	247.346328	62	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102508881	102508881	12768	5	A	G	G	G	117	9	PPIP5K2	4	4
TIFAB	497189	broad.mit.edu	37	5	134785501	134785501	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:134785501G>T	uc003law.3	-	c.129C>A	c.(127-129)GAC>GAA	p.D43E	C5orf20_uc003lav.2_5'Flank	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	TIFA-related protein TIFAB	43	FHA.										0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.636364	47.656316	48.016706	14	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134785501	134785501	16423	5	G	T	T	T	516	40	TIFAB	1	1
KDM3B	51780	broad.mit.edu	37	5	137722285	137722285	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137722285G>A	uc003lcy.1	+	c.1355G>A	c.(1354-1356)GGC>GAC	p.G452D	KDM3B_uc010jew.1_Missense_Mutation_p.G108D|KDM3B_uc011cys.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	452					chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|lung(2)|kidney(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9														0.280374	83.715448	88.348535	30	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137722285	137722285	8433	5	G	A	A	A	546	42	KDM3B	2	2
PCDHGA2	56113	broad.mit.edu	37	5	140719811	140719811	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140719811A>G	uc003ljk.1	+	c.1273A>G	c.(1273-1275)AAA>GAA	p.K425E	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.K425E	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	425	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.356589	163.322911	165.656313	46	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140719811	140719811	11974	5	A	G	G	G	169	13	PCDHGA2	4	4
SLIT3	6586	broad.mit.edu	37	5	168098448	168098448	+	Silent	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:168098448G>T	uc010jjg.2	-	c.3903C>A	c.(3901-3903)GGC>GGA	p.G1301G	SLIT3_uc003mab.2_Silent_p.G1294G	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1294	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			Ovarian(29;311 847 10864 17279 24903)								0.682927	96.514591	97.734426	28	13	KEEP	---	---	---	---	capture		Silent	SNP	168098448	168098448	15239	5	G	T	T	T	587	46	SLIT3	2	2
C5orf25	375484	broad.mit.edu	37	5	175763780	175763780	+	Silent	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:175763780C>A	uc003mds.3	+	c.2172C>A	c.(2170-2172)ATC>ATA	p.I724I	C5orf25_uc003mdt.3_Silent_p.I309I|C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdv.2_Silent_p.I185I	C5orf25		Q8NDZ2	CE025_HUMAN	RecName: Full=Uncharacterized protein C5orf25;	724											0	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)										0.676768	451.789821	457.273192	134	64	KEEP	---	---	---	---	capture		Silent	SNP	175763780	175763780	2386	5	C	A	A	A	369	29	C5orf25	2	2
PDZD2	23037	broad.mit.edu	37	5	32048735	32048735	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:32048735G>T	uc003jhl.2	+	c.1610G>T	c.(1609-1611)CGA>CTA	p.R537L	PDZD2_uc003jhm.2_Missense_Mutation_p.R537L|PDZD2_uc011cnx.1_Missense_Mutation_p.R363L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	537					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|large_intestine(1)	7														0.151899	25.249504	34.412797	12	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32048735	32048735	12122	5	G	T	T	T	481	37	PDZD2	1	1
AHRR	57491	broad.mit.edu	37	5	353963	353963	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:353963C>G	uc003jav.2	+	c.193C>G	c.(193-195)CTG>GTG	p.L65V	AHRR_uc003jaw.2_Missense_Mutation_p.L61V|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Missense_Mutation_p.L61V	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	65	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity|transcription regulator activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)											0.204082	27.821715	31.803974	10	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	353963	353963	420	5	C	G	G	G	363	28	AHRR	3	3
PRKAA1	5562	broad.mit.edu	37	5	40798230	40798230	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:40798230C>A	uc003jmb.2	-	c.62G>T	c.(61-63)CGG>CTG	p.R21L	PRKAA1_uc003jmc.2_Missense_Mutation_p.R21L	NM_206907	NP_996790	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic	21					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)					149				0.375	37.992627	38.431397	12	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40798230	40798230	12936	5	C	A	A	A	299	23	PRKAA1	1	1
NLN	57486	broad.mit.edu	37	5	65077169	65077169	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:65077169A>G	uc003juf.2	+	c.743A>G	c.(742-744)TAT>TGT	p.Y248C	NLN_uc003jue.2_Missense_Mutation_p.Y248C|NLN_uc003jug.2_Missense_Mutation_p.Y77C	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	248					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)										0.491525	216.754642	216.761849	58	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65077169	65077169	10870	5	A	G	G	G	208	16	NLN	4	4
DMGDH	29958	broad.mit.edu	37	5	78325854	78325854	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:78325854C>A	uc003kfs.2	-	c.1687G>T	c.(1687-1689)GGT>TGT	p.G563C	DMGDH_uc011cte.1_Missense_Mutation_p.G413C|DMGDH_uc011ctf.1_Missense_Mutation_p.G362C|DMGDH_uc011ctg.1_Missense_Mutation_p.G183C	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	563					choline metabolic process|glycine catabolic process|oxidation-reduction process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)	3		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)										0.179487	30.69951	38.239506	14	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78325854	78325854	4761	5	C	A	A	A	286	22	DMGDH	2	2
GPR98	84059	broad.mit.edu	37	5	89920950	89920950	+	Nonsense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:89920950G>T	uc003kju.2	+	c.562G>T	c.(562-564)GAG>TAG	p.E188*	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	188	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)										0.711538	126.593625	128.6783	37	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	89920950	89920950	6997	5	G	T	T	T	429	33	GPR98	5	2
RIOK2	55781	broad.mit.edu	37	5	96506952	96506952	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:96506952T>A	uc003kmz.2	-	c.737A>T	c.(736-738)GAT>GTT	p.D246V	RIOK2_uc003kna.3_Missense_Mutation_p.D246V	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	RIO kinase 2 isoform 1	246					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			kidney(1)	1		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)						222				0.26378	198.431608	211.231659	67	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96506952	96506952	13855	5	T	A	A	A	650	50	RIOK2	3	3
ALDH8A1	64577	broad.mit.edu	37	6	135239890	135239890	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:135239890G>A	uc003qew.2	-	c.1127C>T	c.(1126-1128)ACG>ATG	p.T376M	ALDH8A1_uc003qex.2_Missense_Mutation_p.T322M|ALDH8A1_uc010kgh.2_Missense_Mutation_p.T154M|ALDH8A1_uc011ecx.1_Missense_Mutation_p.T326M	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	376					oxidation-reduction process|retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)	3	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)										0.19708	64.867158	76.560453	27	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135239890	135239890	508	6	G	A	A	A	520	40	ALDH8A1	1	1
NUP43	348995	broad.mit.edu	37	6	150057694	150057694	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:150057694T>C	uc003qmz.2	-	c.703A>G	c.(703-705)ACT>GCT	p.T235A	NUP43_uc003qmx.3_Non-coding_Transcript|NUP43_uc011eee.1_Non-coding_Transcript|NUP43_uc011eef.1_Intron	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	235	WD 5.				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)										0.25	103.815618	111.310777	33	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150057694	150057694	11170	6	T	C	C	C	741	57	NUP43	4	4
OPN5	221391	broad.mit.edu	37	6	47775990	47775990	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47775990A>T	uc003ozc.2	+	c.857A>T	c.(856-858)CAG>CTG	p.Q286L	OPN5_uc003ozd.2_Missense_Mutation_p.Q121L	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	opsin 5 isoform 1	286	Extracellular (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1						Melanoma(28;740 973 10870 42660 45347)								0.336207	373.065666	381.326121	117	231	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47775990	47775990	11289	6	A	T	T	T	91	7	OPN5	3	3
MUC17	140453	broad.mit.edu	37	7	100681561	100681561	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100681561C>G	uc003uxp.1	+	c.6864C>G	c.(6862-6864)CAC>CAG	p.H2288Q	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2288	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|36.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.365535	485.523615	491.603786	140	243	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100681561	100681561	10368	7	C	G	G	G	220	17	MUC17	3	3
PMPCB	9512	broad.mit.edu	37	7	102937953	102937953	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:102937953G>T	uc003vbk.1	+	c.47G>T	c.(46-48)CGG>CTG	p.R16L	PMPCB_uc010liu.1_Missense_Mutation_p.R16L|PMPCB_uc003vbl.2_Missense_Mutation_p.R16L|PMPCB_uc003vbm.2_5'UTR|PMPCB_uc010liv.2_5'UTR|PMPCB_uc010liw.2_5'UTR|PMPCB_uc011kll.1_5'UTR|PMPCB_uc011klm.1_5'Flank	NM_004279	NP_004270	O75439	MPPB_HUMAN	mitochondrial processing peptidase beta subunit	16				RR -> GG (in Ref. 1; AAC39915).	proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)	4												OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.4375	46.846204	46.955087	14	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102937953	102937953	12567	7	G	T	T	T	507	39	PMPCB	1	1
FOXP2	93986	broad.mit.edu	37	7	114270018	114270018	+	Silent	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:114270018G>A	uc003vgz.2	+	c.630G>A	c.(628-630)CAG>CAA	p.Q210Q	FOXP2_uc003vgu.2_Non-coding_Transcript|FOXP2_uc003vha.2_Silent_p.Q93Q|FOXP2_uc003vhb.2_Silent_p.Q185Q|FOXP2_uc011kmu.1_Silent_p.Q202Q|FOXP2_uc011kmv.1_Silent_p.Q185Q|FOXP2_uc010ljz.1_Silent_p.Q93Q|FOXP2_uc003vgt.1_Non-coding_Transcript|FOXP2_uc003vgv.1_Silent_p.Q185Q|FOXP2_uc003vgx.2_Silent_p.Q185Q|FOXP2_uc003vhd.2_Silent_p.Q185Q|FOXP2_uc003vhc.2_Silent_p.Q210Q	NM_148898	NP_683696	O15409	FOXP2_HUMAN	forkhead box P2 isoform II	185	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|lung(1)|breast(1)|pancreas(1)	7														0.22619	50.383547	56.163886	19	65	KEEP	---	---	---	---	capture		Silent	SNP	114270018	114270018	6273	7	G	A	A	A	438	34	FOXP2	2	2
FLNC	2318	broad.mit.edu	37	7	128496848	128496848	+	Silent	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128496848C>A	uc003vnz.3	+	c.7434C>A	c.(7432-7434)ATC>ATA	p.I2478I	FLNC_uc003voa.3_Silent_p.I2445I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2478	Filamin 22.|Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.45283	81.4959	81.598386	24	29	KEEP	---	---	---	---	capture		Silent	SNP	128496848	128496848	6177	7	C	A	A	A	395	31	FLNC	1	1
AKR1B15	441282	broad.mit.edu	37	7	134261164	134261164	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:134261164C>A	uc011kpr.1	+	c.807C>A	c.(805-807)CAC>CAA	p.H269Q	AKR1B15_uc011kps.1_Missense_Mutation_p.H241Q	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	269					oxidation-reduction process		oxidoreductase activity			ovary(1)	1														0.1125	11.114255	22.977816	9	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134261164	134261164	471	7	C	A	A	A	220	17	AKR1B15	2	2
ADCK2	90956	broad.mit.edu	37	7	140380905	140380905	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140380905G>C	uc003vvy.1	+	c.1273G>C	c.(1273-1275)GCA>CCA	p.A425P	ADCK2_uc003vvz.2_Missense_Mutation_p.A425P	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	425	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity				0	Melanoma(164;0.00956)									111				0.214286	35.568785	39.789572	12	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140380905	140380905	290	7	G	C	C	C	598	46	ADCK2	3	3
GALNTL5	168391	broad.mit.edu	37	7	151664369	151664369	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151664369C>A	uc003wkp.2	+	c.38C>A	c.(37-39)TCC>TAC	p.S13Y	GALNTL5_uc003wkq.2_5'UTR|GALNTL5_uc003wkr.2_Non-coding_Transcript|GALNTL5_uc003wks.2_Non-coding_Transcript|GALNTL5_uc010lqf.2_5'UTR	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	13	Helical; Signal-anchor for type II membrane protein; (Potential).					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)										0.21	49.560731	57.313813	21	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151664369	151664369	6488	7	C	A	A	A	390	30	GALNTL5	2	2
MLL3	58508	broad.mit.edu	37	7	151962197	151962197	+	Nonsense_Mutation	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151962197G>T	uc003wla.2	-	c.1110C>A	c.(1108-1110)TGC>TGA	p.C370*		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	370	PHD-type 1.|RING-type.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		Colon(68;14 1149 1884 27689 34759)			p.C370W(NCIH1373-Tumor)	1780				0.235491	560.141632	617.417452	211	685	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	151962197	151962197	10012	7	G	T	T	T	542	42	MLL3	5	2
TMEM195	392636	broad.mit.edu	37	7	15601381	15601381	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:15601381G>C	uc003stb.1	-	c.90C>G	c.(88-90)TTC>TTG	p.F30L		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	30					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0														0.356164	367.121041	372.442402	104	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15601381	15601381	16652	7	G	C	C	C	529	41	TMEM195	3	3
GHRHR	2692	broad.mit.edu	37	7	31013682	31013682	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31013682T>A	uc003tbx.2	+	c.680T>A	c.(679-681)CTG>CAG	p.L227Q	GHRHR_uc003tbw.1_Missense_Mutation_p.L227Q|GHRHR_uc003tby.2_Missense_Mutation_p.L163Q|GHRHR_uc003tbz.2_Intron	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	227	Helical; Name=3; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			large_intestine(1)|ovary(1)	2					Sermorelin(DB00010)									0.287879	56.598281	59.261006	19	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31013682	31013682	6641	7	T	A	A	A	715	55	GHRHR	3	3
CCDC129	223075	broad.mit.edu	37	7	31690852	31690852	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31690852C>T	uc011kae.1	+	c.2758C>T	c.(2758-2760)CTC>TTC	p.L920F	CCDC129_uc011kad.1_Missense_Mutation_p.L904F|CCDC129_uc003tcj.1_Missense_Mutation_p.L894F|CCDC129_uc003tci.1_Missense_Mutation_p.L745F|CCDC129_uc003tck.1_Missense_Mutation_p.L802F	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	894											0														0.352564	535.06235	544.021869	165	303	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31690852	31690852	2884	7	C	T	T	T	312	24	CCDC129	2	2
PDE1C	5137	broad.mit.edu	37	7	31864558	31864558	+	Silent	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31864558C>A	uc003tco.1	-	c.1509G>T	c.(1507-1509)ACG>ACT	p.T503T	PDE1C_uc003tcm.1_Silent_p.T443T|PDE1C_uc003tcn.1_Silent_p.T443T|PDE1C_uc003tcr.2_Silent_p.T443T|PDE1C_uc003tcs.2_Silent_p.T443T	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	443	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			central_nervous_system(1)	1			GBM - Glioblastoma multiforme(11;0.216)											0.290249	396.102865	413.439198	128	313	KEEP	---	---	---	---	capture		Silent	SNP	31864558	31864558	12056	7	C	A	A	A	288	23	PDE1C	1	1
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	G	G	rs121434568		TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:55259515T>G	uc003tqk.2	+	c.2573T>G	c.(2572-2574)CTG>CGG	p.L858R	EGFR_uc010kzg.1_Missense_Mutation_p.L813R|EGFR_uc011kco.1_Missense_Mutation_p.L805R	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	858	Cytoplasmic (Potential).|Protein kinase.		L -> R (found in a lung cancer sample; somatic mutation).|L -> M (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L858R(3084)|p.L858Q(3)|p.L858A(2)|p.L858W(1)|p.L858P(1)|p.L858L(1)|p.L858K(1)|p.L858G(1)|p.H805I(1)		lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)		L858R(NCIH1975_LUNG)	8		608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.279518	333.116083	351.261277	116	299	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55259515	55259515	5156	7	T	G	G	G	715	55	EGFR	4	4
ZNF479	90827	broad.mit.edu	37	7	57188147	57188147	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:57188147G>C	uc010kzo.2	-	c.975C>G	c.(973-975)TGC>TGG	p.C325W		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	325	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3			GBM - Glioblastoma multiforme(1;9.18e-12)											0.276596	41.154221	43.265708	13	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57188147	57188147	18527	7	G	C	C	C	594	46	ZNF479	3	3
PCLO	27445	broad.mit.edu	37	7	82764395	82764395	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82764395G>A	uc003uhx.2	-	c.2471C>T	c.(2470-2472)CCT>CTT	p.P824L	PCLO_uc003uhv.2_Missense_Mutation_p.P824L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	770	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.362745	363.540588	368.614079	111	195	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82764395	82764395	12003	7	G	A	A	A	455	35	PCLO	2	2
AKAP9	10142	broad.mit.edu	37	7	91667886	91667886	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:91667886A>G	uc003ulg.2	+	c.4492A>G	c.(4492-4494)ATT>GTT	p.I1498V	AKAP9_uc003ule.2_Missense_Mutation_p.I1510V|AKAP9_uc003ulf.2_Missense_Mutation_p.I1498V|AKAP9_uc003uli.2_Missense_Mutation_p.I1123V	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1510					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)	14	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)							807				0.357143	121.097922	122.859569	35	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91667886	91667886	462	7	A	G	G	G	52	4	AKAP9	4	4
TMEM130	222865	broad.mit.edu	37	7	98449098	98449098	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:98449098C>T	uc003upo.2	-	c.952G>A	c.(952-954)GAG>AAG	p.E318K	TMEM130_uc011kiq.1_Missense_Mutation_p.E299K|TMEM130_uc011kir.1_Missense_Mutation_p.E318K|TMEM130_uc003upn.2_Missense_Mutation_p.E216K	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	318	Extracellular (Potential).					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)											0.39781	352.446226	354.940628	109	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98449098	98449098	16574	7	C	T	T	T	403	31	TMEM130	1	1
RIMS2	9699	broad.mit.edu	37	8	104709469	104709469	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:104709469G>C	uc003ylp.2	+	c.332G>C	c.(331-333)TGC>TCC	p.C111S		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	142	FYVE-type.|RabBD.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)							728				0.223489	577.967264	639.587818	196	681	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104709469	104709469	13845	8	G	C	C	C	598	46	RIMS2	3	3
CSMD3	114788	broad.mit.edu	37	8	113988081	113988081	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113988081C>A	uc003ynu.2	-	c.1327G>T	c.(1327-1329)GTT>TTT	p.V443F	CSMD3_uc003ynt.2_Missense_Mutation_p.V403F|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	443	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.261905	161.826346	172.598458	55	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113988081	113988081	4087	8	C	A	A	A	260	20	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	114186033	114186033	+	Silent	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:114186033G>A	uc003ynu.2	-	c.627C>T	c.(625-627)ATC>ATT	p.I209I	CSMD3_uc003ynt.2_Silent_p.I169I|CSMD3_uc011lhx.1_Silent_p.I209I|CSMD3_uc010mcx.1_Silent_p.I209I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	209	Extracellular (Potential).|Sushi 1.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.212042	202.255674	231.542066	81	301	KEEP	---	---	---	---	capture		Silent	SNP	114186033	114186033	4087	8	G	A	A	A	525	41	CSMD3	2	2
GABBR2	9568	broad.mit.edu	37	9	101235551	101235551	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101235551C>A	uc004ays.2	-	c.876G>T	c.(874-876)CAG>CAT	p.Q292H		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	292	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)									0.525424	207.151557	207.217525	62	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101235551	101235551	6407	9	C	A	A	A	311	24	GABBR2	2	2
EPB41L4B	54566	broad.mit.edu	37	9	112018498	112018498	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:112018498C>A	uc004bdz.1	-	c.847G>T	c.(847-849)GAT>TAT	p.D283Y	EPB41L4B_uc004bea.2_Missense_Mutation_p.D283Y	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	283	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2														0.473684	311.874267	312.002443	99	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112018498	112018498	5349	9	C	A	A	A	416	32	EPB41L4B	2	2
ELAVL2	1993	broad.mit.edu	37	9	23701585	23701585	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:23701585C>A	uc003zpu.2	-	c.505G>T	c.(505-507)GGG>TGG	p.G169W	ELAVL2_uc003zps.2_Missense_Mutation_p.G169W|ELAVL2_uc003zpt.2_Missense_Mutation_p.G169W|ELAVL2_uc003zpv.2_Missense_Mutation_p.G169W|ELAVL2_uc003zpw.2_Missense_Mutation_p.G169W	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	169	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)										0.46696	354.035391	354.250912	106	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23701585	23701585	5241	9	C	A	A	A	312	24	ELAVL2	2	2
BTK	695	broad.mit.edu	37	X	100613339	100613339	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100613339G>A	uc010nno.2	-	c.1163C>T	c.(1162-1164)ACC>ATC	p.T388I	BTK_uc004ehf.2_5'UTR|BTK_uc010nnh.2_Non-coding_Transcript|BTK_uc010nni.2_Non-coding_Transcript|BTK_uc004ehe.2_Non-coding_Transcript|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Non-coding_Transcript|BTK_uc010nnl.2_5'UTR|BTK_uc010nnm.2_5'UTR|BTK_uc004ehg.2_Missense_Mutation_p.T354I|BTK_uc010nnn.2_Intron|BTK_uc004ehh.1_Non-coding_Transcript|BTK_uc004ehi.2_Missense_Mutation_p.T354I	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	354	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			central_nervous_system(2)|ovary(1)|lung(1)	4										247				0.349005	585.800948	596.930288	193	360	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100613339	100613339	1591	23	G	A	A	A	572	44	BTK	2	2
IL1RAPL2	26280	broad.mit.edu	37	X	105011313	105011313	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:105011313G>A	uc004elz.1	+	c.1720G>A	c.(1720-1722)GAA>AAA	p.E574K		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	574	Cytoplasmic (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3														0.362205	296.43288	300.676455	92	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105011313	105011313	7963	23	G	A	A	A	429	33	IL1RAPL2	2	2
NRK	203447	broad.mit.edu	37	X	105132286	105132286	+	Splice_Site_SNP	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:105132286G>T	uc004emd.2	+	c.253_splice	c.e5-1	p.D85_splice	NRK_uc010npc.1_Splice_Site_SNP	NM_198465	NP_940867			Nik related kinase						protein phosphorylation		ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14										430				0.411765	69.766416	70.113148	21	30	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	105132286	105132286	11060	23	G	T	T	T	455	35	NRK	5	2
NRK	203447	broad.mit.edu	37	X	105189911	105189911	+	Silent	SNP	T	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:105189911T>C	uc004emd.2	+	c.4107T>C	c.(4105-4107)TAT>TAC	p.Y1369Y	NRK_uc011msi.1_5'Flank	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1369	CNH.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14										430				0.158974	73.225178	94.810289	31	164	KEEP	---	---	---	---	capture		Silent	SNP	105189911	105189911	11060	23	T	C	C	C	647	50	NRK	4	4
CAPN6	827	broad.mit.edu	37	X	110496262	110496262	+	Silent	SNP	A	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:110496262A>G	uc004epc.1	-	c.480T>C	c.(478-480)AAT>AAC	p.N160N	CAPN6_uc011msu.1_5'UTR	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	160	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6														0.321678	410.292817	422.411598	138	291	KEEP	---	---	---	---	capture		Silent	SNP	110496262	110496262	2748	23	A	G	G	G	102	8	CAPN6	4	4
CXorf61	203413	broad.mit.edu	37	X	115593061	115593061	+	Silent	SNP	A	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:115593061A>G	uc004eqj.1	-	c.189T>C	c.(187-189)TCT>TCC	p.S63S		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	63	Extracellular (Potential).					integral to membrane|plasma membrane					0														0.261468	527.134149	560.799946	171	483	KEEP	---	---	---	---	capture		Silent	SNP	115593061	115593061	4280	23	A	G	G	G	132	11	CXorf61	4	4
AIFM1	9131	broad.mit.edu	37	X	129264072	129264072	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:129264072G>A	uc004evg.2	-	c.1643C>T	c.(1642-1644)CCG>CTG	p.P548L	AIFM1_uc011mur.1_Missense_Mutation_p.P196L|AIFM1_uc011mus.1_3'UTR|AIFM1_uc004evh.2_Missense_Mutation_p.P544L|AIFM1_uc004evi.2_Missense_Mutation_p.P261L|AIFM1_uc004evk.2_Non-coding_Transcript	NM_004208	NP_004199	O95831	AIFM1_HUMAN	programmed cell death 8 isoform 1	548					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|oxidation-reduction process	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			ovary(4)|central_nervous_system(1)	5										210				0.358277	518.121141	525.924494	158	283	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129264072	129264072	429	23	G	A	A	A	507	39	AIFM1	1	1
IDS	3423	broad.mit.edu	37	X	148564704	148564704	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:148564704G>A	uc011mxe.1	-	c.1226C>T	c.(1225-1227)ACG>ATG	p.T409M	IDS_uc011mxd.1_Missense_Mutation_p.T12M|IDS_uc011mxf.1_Missense_Mutation_p.T319M|IDS_uc011mxg.1_Missense_Mutation_p.T198M|IDS_uc010nsu.1_Missense_Mutation_p.T19M|IDS_uc004fcw.3_Missense_Mutation_p.T198M	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	409						lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)													0.232673	123.171779	136.354978	47	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148564704	148564704	7803	23	G	A	A	A	520	40	IDS	1	1
CXorf40B	541578	broad.mit.edu	37	X	149101918	149101918	+	Nonsense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:149101918C>A	uc004fdy.2	-	c.175G>T	c.(175-177)GAG>TAG	p.E59*	CXorf40B_uc011mxs.1_Non-coding_Transcript	NM_001013845	NP_001013867	Q96DE9	CX04B_HUMAN	hypothetical protein LOC541578	59											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.218935	81.068099	93.386399	37	132	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	149101918	149101918	4270	23	C	A	A	A	390	30	CXorf40B	5	2
MAGEA12	4111	broad.mit.edu	37	X	151899874	151899874	+	Silent	SNP	A	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151899874A>G	uc010ntp.2	-	c.927T>C	c.(925-927)TTT>TTC	p.F309F	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.F309F	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	309											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.332136	617.646167	631.521134	185	372	KEEP	---	---	---	---	capture		Silent	SNP	151899874	151899874	9543	23	A	G	G	G	167	13	MAGEA12	4	4
AVPR2	554	broad.mit.edu	37	X	153171455	153171455	+	Silent	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153171455C>A	uc004fjh.3	+	c.495C>A	c.(493-495)GCC>GCA	p.A165A	AVPR2_uc004fjg.3_Intron|AVPR2_uc004fji.2_Silent_p.A165A	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	165	Helical; Name=4; (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)									0.439024	57.74449	57.87736	18	23	KEEP	---	---	---	---	capture		Silent	SNP	153171455	153171455	1254	23	C	A	A	A	301	24	AVPR2	2	2
F8	2157	broad.mit.edu	37	X	154158393	154158393	+	Silent	SNP	G	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:154158393G>T	uc004fmt.2	-	c.3672C>A	c.(3670-3672)ATC>ATA	p.I1224I		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1224	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)					359				0.292079	159.72105	167.558292	59	143	KEEP	---	---	---	---	capture		Silent	SNP	154158393	154158393	5544	23	G	T	T	T	525	41	F8	2	2
MAGEB3	4114	broad.mit.edu	37	X	30254445	30254445	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30254445C>A	uc004dca.1	+	c.404C>A	c.(403-405)GCA>GAA	p.A135E		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	135	MAGE.										0														0.360215	211.477762	214.675758	67	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30254445	30254445	9558	23	C	A	A	A	325	25	MAGEB3	2	2
NR0B1	190	broad.mit.edu	37	X	30327006	30327006	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30327006C>A	uc004dcf.3	-	c.475G>T	c.(475-477)GCT>TCT	p.A159S		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	159	4 X 67 AA tandem repeats.|3.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|basal transcription repressor activity|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)							OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.222222	18.745748	21.256499	8	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30327006	30327006	11018	23	C	A	A	A	338	26	NR0B1	2	2
RPGR	6103	broad.mit.edu	37	X	38145111	38145111	+	Silent	SNP	T	C	C			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:38145111T>C	uc004ded.1	-	c.3141A>G	c.(3139-3141)GAA>GAG	p.E1047E	RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	836	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1														0.294118	17.268382	17.913135	5	12	KEEP	---	---	---	---	capture		Silent	SNP	38145111	38145111	14027	23	T	C	C	C	829	64	RPGR	4	4
NLGN4X	57502	broad.mit.edu	37	X	5811180	5811180	+	Missense_Mutation	SNP	C	G	G	rs4017999		TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:5811180C>G	uc010ndi.2	-	c.2240G>C	c.(2239-2241)CGC>CCC	p.R747P	NLGN4X_uc004crp.2_Missense_Mutation_p.R730P|NLGN4X_uc010ndh.2_Missense_Mutation_p.R710P|NLGN4X_uc004crq.2_Missense_Mutation_p.R710P|NLGN4X_uc004crr.2_Missense_Mutation_p.R710P|NLGN4X_uc010ndj.2_Missense_Mutation_p.R710P	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	710	Cytoplasmic (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|regulation of synaptic transmission|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	carboxylesterase activity|chloride ion binding|neurexin binding|protein homodimerization activity			large_intestine(1)|skin(1)	2														0.420561	152.701586	153.278917	45	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5811180	5811180	10867	23	C	G	G	G	351	27	NLGN4X	3	3
HEPH	9843	broad.mit.edu	37	X	65420411	65420411	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:65420411C>T	uc011moz.1	+	c.1903C>T	c.(1903-1905)CCC>TCC	p.P635S	HEPH_uc004dwn.2_Missense_Mutation_p.P635S|HEPH_uc004dwo.2_Missense_Mutation_p.P365S|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Missense_Mutation_p.P635S|HEPH_uc010nks.2_5'Flank	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	632	Plastocyanin-like 4.|Extracellular (Potential).				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9										386				0.301075	80.06313	83.35039	28	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65420411	65420411	7337	23	C	T	T	T	338	26	HEPH	2	2
SYNE2	23224	broad.mit.edu	37	14	64484334	64484336	+	In_Frame_Del	DEL	TAC	-	-			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64484334_64484336delTAC	uc001xgl.2	+	c.4909_4911delTAC	c.(4909-4911)TACdel	p.Y1638del	SYNE2_uc001xgm.2_In_Frame_Del_p.Y1638del	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1638	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)										0.34			62	119		---	---	---	---	capture_indel		In_Frame_Del	DEL	64484334	64484336	15967	14	TAC	-	-	-	793	61	SYNE2	5	5
DMPK	1760	broad.mit.edu	37	19	46283129	46283130	+	Splice_Site_Ins	INS	-	G	G	rs72098650		TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46283129_46283130insG	uc002pdi.1	-	c.239_splice	c.e3-1	p.A80_splice	DMPK_uc010xxs.1_5'Flank|DMPK_uc002pdd.1_Frame_Shift_Ins_p.P63fs|DMPK_uc002pde.1_Frame_Shift_Ins_p.P63fs|DMPK_uc002pdf.1_Splice_Site_Ins_p.A54_splice|DMPK_uc002pdg.1_Splice_Site_Ins_p.A54_splice|DMPK_uc002pdh.1_Splice_Site_Ins_p.A54_splice|DMPK_uc010xxt.1_Splice_Site_Ins_p.A54_splice|DMPK_uc010xxu.1_Frame_Shift_Ins_p.P63fs	NM_001081563	NP_001075032			myotonic dystrophy protein kinase isoform 1						protein phosphorylation|regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)	3		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		Esophageal Squamous(35;307 869 9153 24033 28903)				152				0.44			4	5		---	---	---	---	capture_indel		Splice_Site_Ins	INS	46283129	46283130	4764	19	-	G	G	G	715	55	DMPK	5	5
SPTA1	6708	broad.mit.edu	37	1	158596702	158596702	+	Frame_Shift_Del	DEL	C	-	-			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158596702_158596702delC	uc001fst.1	-	c.5760_5760delG	c.(5758-5760)TGGfs	p.W1920fs		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1920	Spectrin 18.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.33			205	424		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	158596702	158596702	15630	1	C	-	-	-	390	30	SPTA1	5	5
PARVG	64098	broad.mit.edu	37	22	44586474	44586474	+	Frame_Shift_Del	DEL	G	-	-			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:44586474_44586474delG	uc011aqe.1	+	c.432_432delG	c.(430-432)GTGfs	p.V144fs	PARVG_uc003bep.2_Frame_Shift_Del_p.V144fs|PARVG_uc011aqf.1_Frame_Shift_Del_p.V144fs|PARVG_uc003beq.2_Non-coding_Transcript|PARVG_uc003ber.2_Non-coding_Transcript	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN	parvin, gamma	144	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding				0		Ovarian(80;0.024)|all_neural(38;0.0299)												0.37			38	66		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	44586474	44586474	11887	22	G	-	-	-	600	47	PARVG	5	5
GIGYF1	64599	broad.mit.edu	37	7	100285169	100285170	+	Frame_Shift_Ins	INS	-	G	G			TCGA-67-3770-01	TCGA-67-3770-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100285169_100285170insG	uc003uwg.1	-	c.331_332insC	c.(331-333)CTGfs	p.L111fs		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	111										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)													0.43			3	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	100285169	100285170	6645	7	-	G	G	G	91	7	GIGYF1	5	5
