Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Genome_Change	Annotation_Transcript	Transcript_Strand	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
SPOCK2	9806	broad.mit.edu	36	10	73492621	73492621	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0619-01	TCGA-12-0619-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:73492621T>C	uc001jso.1	-	c.1178A>G	c.(1177-1179)GAG>GGG	p.E393G	SPOCK2_uc001jsp.1_Missense_Mutation_p.E393G	NM_014767	NP_055582	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	393	Glu-rich.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding				0														0.294118	8.538328	9.144751	5	12	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73492621	73492621	15593	10	T	C	C	54	54	SPOCK2	C	4	4
STAMBPL1	57559	broad.mit.edu	36	10	90664375	90664375	+	Nonsense_Mutation	SNP	G	T	T			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:90664375G>T	uc001kfk.1	+	c.883G>T	c.(883-885)GGA>TGA	p.G295*	STAMBPL1_uc009xto.1_Non-coding_Transcript|STAMBPL1_uc001kfl.1_Nonsense_Mutation_p.G295*|STAMBPL1_uc001kfn.1_Nonsense_Mutation_p.G129*	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	295	MPN.						metal ion binding|metallopeptidase activity|protein binding			ovary(1)	1		Colorectal(252;0.0381)												0.777778	190.235664	195.344633	56	16	GG		KEEP	---	---	---	---	capture		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	Nonsense_Mutation	SNP	90664375	90664375	15770	10	G	T	T	47	47	STAMBPL1	T	5	3
IGSF22	283284	broad.mit.edu	36	11	18687714	18687714	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:18687714G>A	uc009yht.1	-	c.2794C>T	c.(2794-2796)CCC>TCC	p.P932S	IGSF22_uc001mpa.2_Missense_Mutation_p.P831S	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	831	Fibronectin type-III 2.									ovary(4)|large_intestine(2)|kidney(1)	7														0.481928	121.294195	121.317826	40	43	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18687714	18687714	7901	11	G	A	A	44	44	IGSF22	A	2	2
OR10A3	26496	broad.mit.edu	36	11	7916700	7916700	+	Nonstop_Mutation	SNP	C	A	A			TCGA-12-0619-01	TCGA-12-0619-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:7916700C>A	uc001mfu.1	-	c.944G>T	c.(943-945)TGA>TTA	p.*315L		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A,	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1														0.476923	94.118424	94.148718	31	34	CC		KEEP	---	---	---	---	capture		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Nonstop_Mutation	SNP	7916700	7916700	11297	11	C	A	A	29	29	OR10A3	A	5	3
SLC2A14	144195	broad.mit.edu	36	12	7871420	7871420	+	Nonsense_Mutation	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7871420G>A	uc001qtk.1	-	c.871C>T	c.(871-873)CGA>TGA	p.R291*	SLC2A14_uc001qtl.1_Nonsense_Mutation_p.R268*|SLC2A14_uc001qtm.1_Nonsense_Mutation_p.R268*|SLC2A14_uc001qtn.1_Nonsense_Mutation_p.R291*|SLC2A14_uc001qto.1_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	291	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1														0.378378	87.28707	88.24567	28	46	GG		KEEP	---	---	---	---	capture		Kidney(36;0.0883)	Nonsense_Mutation	SNP	7871420	7871420	15040	12	G	A	A	39	39	SLC2A14	A	5	1
OR10G2	26534	broad.mit.edu	36	14	21172586	21172586	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:21172586G>A	uc001wbj.1	-	c.253C>T	c.(253-255)CGG>TGG	p.R85W		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G,	85	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)												0.462366	134.819033	134.933331	43	50	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0142)	Missense_Mutation	SNP	21172586	21172586	11305	14	G	A	A	37	37	OR10G2	A	1	1
EAPP	55837	broad.mit.edu	36	14	34075183	34075183	+	Nonsense_Mutation	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:34075183G>A	uc001wsd.1	-	c.124C>T	c.(124-126)CGA>TGA	p.R42*		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	42					negative regulation of gene-specific transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of gene-specific transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				ovary(1)	1	Breast(36;0.0473)|Hepatocellular(127;0.158)													0.368421	102.498342	103.944801	35	60	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	Nonsense_Mutation	SNP	34075183	34075183	5063	14	G	A	A	40	40	EAPP	A	5	1
LGALS3	3958	broad.mit.edu	36	14	54674798	54674798	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0619-01	TCGA-12-0619-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:54674798T>C	uc001xbr.1	+	c.301T>C	c.(301-303)TAC>CAC	p.Y101H		NM_002306	NP_002297	P17931	LEG3_HUMAN	galectin 3	101	8 X 9 AA tandem repeats of Y-P-G-X(3)-P- G-A.|8; approximate.				cell differentiation|innate immune response|mRNA processing|RNA splicing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding				0														0.234043	17.869515	21.059455	11	36	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54674798	54674798	9068	14	T	C	C	53	53	LGALS3	C	4	4
C14orf49	161176	broad.mit.edu	36	14	94969448	94969448	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:94969448G>A	uc001yei.2	-	c.2590C>T	c.(2590-2592)CGT>TGT	p.R864C	C14orf49_uc010avi.1_Missense_Mutation_p.R859C	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	864	Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)												0.38785	246.671483	249.030776	83	131	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.245)	Missense_Mutation	SNP	94969448	94969448	1826	14	G	A	A	37	37	C14orf49	A	1	1
ARIH1	25820	broad.mit.edu	36	15	70554131	70554131	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:70554131G>A	uc002aut.2	+	c.97G>A	c.(97-99)GAC>AAC	p.D33N		NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN	ariadne ubiquitin-conjugating enzyme E2 binding	33	Asp/Glu-rich (acidic).				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	protein binding|small conjugating protein ligase activity|zinc ion binding				0														0.769231	68.713348	70.441404	20	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70554131	70554131	938	15	G	A	A	37	37	ARIH1	A	1	1
COMMD4	54939	broad.mit.edu	36	15	73417770	73417770	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0619-01	TCGA-12-0619-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:73417770C>G	uc002azy.1	+	c.97C>G	c.(97-99)CTC>GTC	p.L33V	COMMD4_uc002azz.1_Missense_Mutation_p.L33V|COMMD4_uc002baa.1_Missense_Mutation_p.L33V	NM_017828	NP_060298	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	33						cytoplasm	protein binding				0														0.6	6.915998	6.958024	3	2	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73417770	73417770	3856	15	C	G	G	28	28	COMMD4	G	3	3
ACSM2A	123876	broad.mit.edu	36	16	20399663	20399663	+	Silent	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20399663G>A	uc010bwe.1	+	c.1428G>A	c.(1426-1428)TCG>TCA	p.S476S	ACSM2A_uc002dhf.2_Silent_p.S476S|ACSM2A_uc002dhg.2_Silent_p.S476S|ACSM2A_uc002dhh.2_Silent_p.S106S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	476					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)	1														0.340909	131.323651	134.281538	45	87	GG		KEEP	---	---	---	---	capture			Silent	SNP	20399663	20399663	184	16	G	A	A	39	39	ACSM2A	A	1	1
HS3ST4	9951	broad.mit.edu	36	16	26054920	26054920	+	Silent	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:26054920G>A	uc002dof.1	+	c.1221G>A	c.(1219-1221)AGG>AGA	p.R407R		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	407	Lumenal (Potential).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			large_intestine(1)|breast(1)	2														0.277778	26.93662	28.534878	10	26	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0988)	Silent	SNP	26054920	26054920	7661	16	G	A	A	44	44	HS3ST4	A	2	2
SEZ6L2	26470	broad.mit.edu	36	16	29804534	29804534	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:29804534C>T	uc002duq.2	-	c.1246G>A	c.(1246-1248)GTG>ATG	p.V416M	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|SEZ6L2_uc002dup.2_Missense_Mutation_p.V346M|SEZ6L2_uc002dur.2_Missense_Mutation_p.V346M|SEZ6L2_uc002dus.2_Missense_Mutation_p.V302M	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	416	CUB 2.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)	1														0.445545	138.865428	139.125717	45	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29804534	29804534	14633	16	C	T	T	19	19	SEZ6L2	T	1	1
PMFBP1	83449	broad.mit.edu	36	16	70742151	70742151	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:70742151C>T	uc002fcc.2	-	c.493G>A	c.(493-495)GCC>ACC	p.A165T	PMFBP1_uc002fcd.1_Missense_Mutation_p.A165T|PMFBP1_uc002fce.1_Non-coding_Transcript|PMFBP1_uc002fcf.1_Missense_Mutation_p.A20T	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	165	Potential.									ovary(1)	1		Ovarian(137;0.179)												0.405714	207.892802	209.251633	71	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70742151	70742151	12560	16	C	T	T	27	27	PMFBP1	T	1	1
FOXF1	2294	broad.mit.edu	36	16	85102626	85102626	+	Missense_Mutation	SNP	A	C	C			TCGA-12-0619-01	TCGA-12-0619-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:85102626A>C	uc002fjl.1	+	c.950A>C	c.(949-951)AAC>ACC	p.N317T		NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	317					negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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				0														0.428571	7.524861	7.555668	3	4	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85102626	85102626	6250	16	A	C	C	2	2	FOXF1	C	4	4
KRT12	3859	broad.mit.edu	36	17	36273376	36273376	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36273376G>A	uc002hvk.2	-	c.982C>T	c.(982-984)CGT>TGT	p.R328C		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	328	Rod.|Coil 2.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)												0.581081	143.536918	143.961771	43	31	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36273376	36273376	8764	17	G	A	A	39	39	KRT12	A	1	1
COL1A1	1277	broad.mit.edu	36	17	45630130	45630130	+	Nonsense_Mutation	SNP	G	A	A	rs72667036	unknown	TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45630130G>A	uc002iqm.1	-	c.658C>T	c.(658-660)CGA>TGA	p.R220*		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	220	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding|transcription activator activity	p.R220*(1)	COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|breast(1)|pancreas(1)	381					Collagenase(DB00048)|Palifermin(DB00039)					504				0.365789	440.680863	446.676914	139	241	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	45630130	45630130	3815	17	G	A	A	39	39	COL1A1	A	5	1
TP53	7157	broad.mit.edu	36	17	7519165	7519165	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0619-01	TCGA-12-0619-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7519165T>C	uc002gim.2	-	c.490A>G	c.(490-492)AAG>GAG	p.K164E	TP53_uc002gig.1_Missense_Mutation_p.K164E|TP53_uc002gih.1_Missense_Mutation_p.K164E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.K32E|TP53_uc010cng.1_Missense_Mutation_p.K32E|TP53_uc002gii.1_Missense_Mutation_p.K32E|TP53_uc010cnh.1_Missense_Mutation_p.K164E|TP53_uc010cni.1_Missense_Mutation_p.K164E|TP53_uc002gij.2_Missense_Mutation_p.K164E|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.K71E|TP53_uc002gio.2_Missense_Mutation_p.K32E	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	164	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		K -> E (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.K164E(12)|p.K164*(8)|p.0?(6)|p.K164Q(2)|p.K164fs*6(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.K164fs*5(1)|p.K164fs*17(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)				Pancreas(47;798 1329 9957 10801)		111	p.K164*(SNU387-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.704918	141.13111	143.417703	43	18	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7519165	7519165	16923	17	T	C	C	63	63	TP53	C	4	4
CELF4	56853	broad.mit.edu	36	18	33107003	33107003	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:33107003G>A	uc002lae.2	-	c.923C>T	c.(922-924)GCG>GTG	p.A308V	CELF4_uc010dnd.1_Missense_Mutation_p.A306V|CELF4_uc002lag.2_Missense_Mutation_p.A298V|CELF4_uc002laf.2_Missense_Mutation_p.A303V|CELF4_uc002lai.1_Missense_Mutation_p.A174V|CELF4_uc002lah.1_Missense_Mutation_p.A33V|CELF4_uc002laj.1_Silent_p.G143G	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	308	Ala-rich.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.A308V(1)		ovary(2)	2														0.368421	77.091542	78.242979	28	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33107003	33107003	3351	18	G	A	A	38	38	CELF4	A	1	1
SPRED3	399473	broad.mit.edu	36	19	43572901	43572901	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0619-01	TCGA-12-0619-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43572901A>G	uc002oim.1	+	c.119A>G	c.(118-120)GAG>GGG	p.E40G	GGN_uc002oij.1_5'Flank|GGN_uc002oik.1_5'Flank|GGN_uc010efy.1_5'Flank|SPRED3_uc002oil.1_Missense_Mutation_p.E40G	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	40	WH1.				multicellular organismal development					central_nervous_system(2)|lung(1)|skin(1)	4	all_cancers(60;3.4e-06)													0.333333	7.134321	7.521458	5	10	AA		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Missense_Mutation	SNP	43572901	43572901	15607	19	A	G	G	11	11	SPRED3	G	4	4
RSPH6A	81492	broad.mit.edu	36	19	51010167	51010167	+	Silent	SNP	C	T	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:51010167C>T	uc002pdm.1	-	c.108G>A	c.(106-108)CTG>CTA	p.L36L		NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	36						intracellular				ovary(1)|central_nervous_system(1)	2														0.5	149.029266	149.029266	50	50	CC		KEEP	---	---	---	---	capture			Silent	SNP	51010167	51010167	14187	19	C	T	T	21	21	RSPH6A	T	2	2
SHANK1	50944	broad.mit.edu	36	19	55897620	55897620	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55897620G>A	uc002psx.1	-	c.1663C>T	c.(1663-1665)CCC>TCC	p.P555S		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	555	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)												0.5	31.927035	31.927035	11	11	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	Missense_Mutation	SNP	55897620	55897620	14756	19	G	A	A	44	44	SHANK1	A	2	2
GPR32	2854	broad.mit.edu	36	19	55965889	55965889	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55965889C>T	uc002psz.1	+	c.220C>T	c.(220-222)CGC>TGC	p.R74C		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	74	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity				0		all_neural(266;0.131)				Esophageal Squamous(113;152 1581 5732 15840 44398)								0.45283	143.67454	143.880873	48	58	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	Missense_Mutation	SNP	55965889	55965889	6963	19	C	T	T	19	19	GPR32	T	1	1
LYST	1130	broad.mit.edu	36	1	233927141	233927141	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0619-01	TCGA-12-0619-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:233927141T>C	uc001hxj.1	-	c.10429A>G	c.(10429-10431)AGT>GGT	p.S3477G	LYST_uc001hxi.1_Missense_Mutation_p.S701G	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3477					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)												0.271605	110.624715	118.249425	44	118	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		Missense_Mutation	SNP	233927141	233927141	9505	1	T	C	C	55	55	LYST	C	4	4
RYR2	6262	broad.mit.edu	36	1	235957094	235957094	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235957094C>T	uc001hyl.1	+	c.10810C>T	c.(10810-10812)CGG>TGG	p.R3604W		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3604					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)												0.415842	135.335636	135.95939	42	59	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Missense_Mutation	SNP	235957094	235957094	14249	1	C	T	T	23	23	RYR2	T	1	1
PTPRU	10076	broad.mit.edu	36	1	29474640	29474640	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:29474640G>A	uc001bru.1	+	c.1238G>A	c.(1237-1239)CGT>CAT	p.R413H	PTPRU_uc001brv.1_Missense_Mutation_p.R413H|PTPRU_uc001brw.1_Missense_Mutation_p.R413H|PTPRU_uc009vtq.1_Missense_Mutation_p.R413H|PTPRU_uc009vtr.1_Missense_Mutation_p.R413H	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	413	Fibronectin type-III 2.|Extracellular (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)								874				0.341085	126.161215	129.040047	44	85	GG		KEEP	---	---	---	---	capture		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	Missense_Mutation	SNP	29474640	29474640	13271	1	G	A	A	40	40	PTPRU	A	1	1
CYP4B1	1580	broad.mit.edu	36	1	47055425	47055425	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:47055425C>T	uc001cqn.2	+	c.1192C>T	c.(1192-1194)CGG>TGG	p.R398W	CYP4B1_uc001cqm.2_Missense_Mutation_p.R397W|CYP4B1_uc009vym.1_Missense_Mutation_p.R383W	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	397					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.414062	159.957576	160.781242	53	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47055425	47055425	4350	1	C	T	T	23	23	CYP4B1	T	1	1
HCK	3055	broad.mit.edu	36	20	30135886	30135886	+	Silent	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:30135886G>A	uc002wxh.1	+	c.714G>A	c.(712-714)TCG>TCA	p.S238S	HCK_uc010gdy.1_Silent_p.S217S|HCK_uc002wxi.1_Silent_p.S216S	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	238	SH2.				interspecies interaction between organisms|mesoderm development|protein phosphorylation|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.S217S(1)		lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9										262				0.472222	109.049685	109.097551	34	38	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Silent	SNP	30135886	30135886	7276	20	G	A	A	39	39	HCK	A	1	1
RIMBP3	85376	broad.mit.edu	36	22	18838191	18838191	+	Silent	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:18838191G>A	uc002zsd.2	-	c.3111C>T	c.(3109-3111)GGC>GGT	p.G1037G		NM_015672	NP_056487			DKFZP434H0735 protein												0	Colorectal(54;0.0993)|Melanoma(16;0.165)													0.217391	10.774422	12.459907	5	18	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		Silent	SNP	18838191	18838191	13839	22	G	A	A	38	38	RIMBP3	A	1	1
CSF2RB	1439	broad.mit.edu	36	22	35656698	35656698	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:35656698G>A	uc003aqc.2	+	c.910G>A	c.(910-912)GGC>AGC	p.G304S	CSF2RB_uc003aqa.2_Missense_Mutation_p.G298S	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	298	Extracellular (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			pancreas(1)	1					Sargramostim(DB00020)									0.545455	115.740172	115.865724	36	30	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35656698	35656698	4076	22	G	A	A	39	39	CSF2RB	A	1	1
ETV5	2119	broad.mit.edu	36	3	187306313	187306313	+	Silent	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187306313G>A	uc003fpy.1	-	c.165C>T	c.(163-165)GTC>GTT	p.V55V	ETV5_uc003fpz.1_Silent_p.V13V	NM_004454	NP_004445	P41161	ETV5_HUMAN	ets variant gene 5 (ets-related molecule)	13					cellular response to oxidative stress|regulation of transcription, DNA-dependent	nucleus	promoter binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(2)|breast(1)	5	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)									170				0.372881	66.137763	66.974076	22	37	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		Silent	SNP	187306313	187306313	5475	3	G	A	A	41	41	ETV5	A	2	2
SCN10A	6336	broad.mit.edu	36	3	38730498	38730498	+	Silent	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38730498G>A	uc003ciq.1	-	c.3759C>T	c.(3757-3759)CGC>CGT	p.R1253R		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1253	III.|Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8					Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)									0.301587	153.015849	159.652734	57	132	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Silent	SNP	38730498	38730498	14394	3	G	A	A	38	38	SCN10A	A	1	1
TBC1D9	23158	broad.mit.edu	36	4	141800227	141800227	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:141800227C>T	uc010ioj.1	-	c.1886G>A	c.(1885-1887)CGC>CAC	p.R629H		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	629	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)												0.411765	20.723612	20.838686	7	10	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141800227	141800227	16153	4	C	T	T	27	27	TBC1D9	T	1	1
GRIA2	2891	broad.mit.edu	36	4	158503628	158503628	+	Silent	SNP	C	T	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:158503628C>T	uc003ipl.2	+	c.2634C>T	c.(2632-2634)ATC>ATT	p.I878I	GRIA2_uc003ipm.2_Silent_p.I878I|GRIA2_uc003ipk.2_Silent_p.I831I	NM_000826	NP_001077089	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 1	878	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.I878I(1)		central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)			L-Glutamic Acid(DB00142)									0.249097	181.3405	197.197143	69	208	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(41;0.0294)	Silent	SNP	158503628	158503628	7046	4	C	T	T	31	31	GRIA2	T	1	1
GRAMD3	65983	broad.mit.edu	36	5	125849342	125849342	+	Missense_Mutation	SNP	A	T	T			TCGA-12-0619-01	TCGA-12-0619-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:125849342A>T	uc003ktu.1	+	c.1036A>T	c.(1036-1038)ATT>TTT	p.I346F		NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	346										central_nervous_system(1)	1		Prostate(80;0.0928)												0.35514	119.427683	121.402763	38	69	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)	Missense_Mutation	SNP	125849342	125849342	7027	5	A	T	T	16	16	GRAMD3	T	4	4
DNAH5	1767	broad.mit.edu	36	5	13806418	13806418	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0619-01	TCGA-12-0619-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:13806418C>G	uc003jfd.2	-	c.10796G>C	c.(10795-10797)CGT>CCT	p.R3599P	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3599	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.347826	163.459069	166.279372	48	90	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13806418	13806418	4787	5	C	G	G	19	19	DNAH5	G	3	3
SLC4A9	83697	broad.mit.edu	36	5	139723861	139723861	+	Silent	SNP	A	G	G			TCGA-12-0619-01	TCGA-12-0619-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:139723861A>G	uc003lfm.2	+	c.1365A>G	c.(1363-1365)GGA>GGG	p.G455G	SLC4A9_uc003lfj.2_Silent_p.G431G|SLC4A9_uc003lfl.2_Silent_p.G431G|SLC4A9_uc003lfk.2_Silent_p.G420G	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	455	Membrane (anion exchange).|Helical; (Potential).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1														0.3125	6.715066	7.249185	5	11	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	139723861	139723861	15157	5	A	G	G	11	11	SLC4A9	G	4	4
PCDHA10	56139	broad.mit.edu	36	5	140217176	140217176	+	Silent	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140217176G>A	uc003lhx.1	+	c.1359G>A	c.(1357-1359)GCG>GCA	p.A453A	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhq.1_Intron|PCDHA8_uc003lhs.1_Intron|PCDHA9_uc003lhu.1_Intron|PCDHA10_uc003lhw.1_Silent_p.A453A|PCDHA10_uc003lhv.1_Silent_p.A453A	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	453	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	p.A453A(2)		ovary(2)|breast(1)	3														0.412088	211.387946	212.616501	75	107	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140217176	140217176	11940	5	G	A	A	40	40	PCDHA10	A	1	1
PCDHB2	56133	broad.mit.edu	36	5	140456059	140456059	+	Missense_Mutation	SNP	C	A	A			TCGA-12-0619-01	TCGA-12-0619-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140456059C>A	uc003lil.1	+	c.1501C>A	c.(1501-1503)CCC>ACC	p.P501T	PCDHB2_uc003lim.1_Missense_Mutation_p.P162T	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	501	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4														0.388889	146.031983	147.599005	56	88	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140456059	140456059	11962	5	C	A	A	26	26	PCDHB2	A	3	3
MAP3K1	4214	broad.mit.edu	36	5	56196454	56196454	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:56196454C>T	uc003jqw.2	+	c.971C>T	c.(970-972)CCT>CTT	p.P324L		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	324					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)								201				0.336283	117.921993	120.598034	38	75	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	Missense_Mutation	SNP	56196454	56196454	9626	5	C	T	T	24	24	MAP3K1	T	2	2
TMEM174	134288	broad.mit.edu	36	5	72505318	72505318	+	Silent	SNP	C	T	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:72505318C>T	uc003kco.1	+	c.492C>T	c.(490-492)TGC>TGT	p.C164C	TMEM174_uc010izc.1_Silent_p.C164C	NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	transmembrane protein 174	164						integral to membrane				ovary(1)	1		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)												0.10274	10.21123	33.176587	15	131	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	Silent	SNP	72505318	72505318	16624	5	C	T	T	27	27	TMEM174	T	1	1
GPR116	221395	broad.mit.edu	36	6	46964037	46964037	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0619-01	TCGA-12-0619-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:46964037T>C	uc003oyo.2	-	c.322A>G	c.(322-324)ACA>GCA	p.T108A	GPR116_uc003oyp.2_Missense_Mutation_p.T108A|GPR116_uc003oyq.2_Missense_Mutation_p.T108A|GPR116_uc003oyr.2_Missense_Mutation_p.T108A	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116	108	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						NSCLC(59;410 1274 8751 36715 50546)								0.345324	164.064278	166.998017	48	91	TT		KEEP	---	---	---	---	capture	Lung(136;0.192)		Missense_Mutation	SNP	46964037	46964037	6907	6	T	C	C	58	58	GPR116	C	4	4
HTR1E	3354	broad.mit.edu	36	6	87782031	87782031	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:87782031G>A	uc003plg.1	+	c.260G>A	c.(259-261)CGC>CAC	p.R87H	HTR1E_uc003plh.1_Missense_Mutation_p.R87H|HTR1E_uc003pli.1_Missense_Mutation_p.R87H|HTR1E_uc010kbt.1_Missense_Mutation_p.R87H	NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	87	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)	2		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)			Eletriptan(DB00216)									0.418502	289.59289	290.90696	95	132	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.055)	Missense_Mutation	SNP	87782031	87782031	7739	6	G	A	A	38	38	HTR1E	A	1	1
PRKRIP1	79706	broad.mit.edu	36	7	101823871	101823871	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:101823871G>A	uc003uzh.2	+	c.8G>A	c.(7-9)AGC>AAC	p.S3N	PRKRIP1_uc003uzf.2_Intron|PRKRIP1_uc003uzg.2_Intron	NM_024653	NP_078929	Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	3	Interaction with EIF2AK2 (By similarity).					nucleolus				ovary(1)	1														0.444444	7.37178	7.39935	4	5	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101823871	101823871	12968	7	G	A	A	34	34	PRKRIP1	A	2	2
PAX4	5078	broad.mit.edu	36	7	127042216	127042216	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:127042216C>T	uc010lld.1	-	c.290G>A	c.(289-291)CGC>CAC	p.R97H	PAX4_uc003vmf.2_Missense_Mutation_p.R95H|PAX4_uc003vmg.1_Missense_Mutation_p.R97H|PAX4_uc003vmh.2_Missense_Mutation_p.R95H	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	105	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1						Ovarian(113;737 1605 7858 27720 34092)								0.267442	111.876763	120.276952	46	126	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	127042216	127042216	11901	7	C	T	T	27	27	PAX4	T	1	1
PLXNA4	91584	broad.mit.edu	36	7	131522873	131522873	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:131522873C>T	uc003vra.2	-	c.2890G>A	c.(2890-2892)GGG>AGG	p.G964R		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	964	IPT/TIG 2.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.21137	353.423029	406.249666	145	541	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131522873	131522873	12548	7	C	T	T	22	22	PLXNA4	T	2	2
SKAP2	8935	broad.mit.edu	36	7	26744990	26744990	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:26744990G>A	uc003syc.1	-	c.418C>T	c.(418-420)CGG>TGG	p.R140W		NM_003930	NP_003921	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	140	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			pancreas(1)	1														0.242604	106.591004	116.799285	41	128	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26744990	26744990	14851	7	G	A	A	40	40	SKAP2	A	1	1
SDK1	221935	broad.mit.edu	36	7	4136165	4136165	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:4136165G>A	uc003smx.1	+	c.4039G>A	c.(4039-4041)GTG>ATG	p.V1347M	SDK1_uc010kso.1_Missense_Mutation_p.V623M|SDK1_uc003smy.1_De_novo_Start_InFrame	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 isoform 1	1347	Fibronectin type-III 7.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)												0.247706	65.97411	72.285696	27	82	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	Missense_Mutation	SNP	4136165	4136165	14454	7	G	A	A	40	40	SDK1	A	1	1
ZPBP	11055	broad.mit.edu	36	7	50068208	50068208	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0619-01	TCGA-12-0619-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:50068208A>G	uc003tou.1	-	c.410T>C	c.(409-411)ATT>ACT	p.I137T	ZPBP_uc010kyw.1_Missense_Mutation_p.I136T	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	137					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)													0.222973	100.099733	110.540235	33	115	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50068208	50068208	18823	7	A	G	G	4	4	ZPBP	G	4	4
EGFR	1956	broad.mit.edu	36	7	55200537	55200537	+	Missense_Mutation	SNP	G	T	T			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55200537G>T	uc003tqk.1	+	c.1793G>T	c.(1792-1794)GGA>GTA	p.G598V	EGFR_uc003tqi.1_Missense_Mutation_p.G598V|EGFR_uc003tqj.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc003tqn.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	598	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(16)		lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)				Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			8		608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.136041	166.756428	293.140416	134	851	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Missense_Mutation	SNP	55200537	55200537	5156	7	G	T	T	41	41	EGFR	T	3	3
PTPN12	5782	broad.mit.edu	36	7	77094874	77094874	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0619-01	TCGA-12-0619-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:77094874A>G	uc003ugh.1	+	c.1942A>G	c.(1942-1944)ATG>GTG	p.M648V	PTPN12_uc010lds.1_Missense_Mutation_p.M380V	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	648						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3														0.267241	93.775728	99.448777	31	85	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77094874	77094874	13236	7	A	G	G	4	4	PTPN12	G	4	4
ODF2	4957	broad.mit.edu	36	9	130273488	130273488	+	Silent	SNP	C	T	T			TCGA-12-0619-01	TCGA-12-0619-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130273488C>T	uc004bvd.2	+	c.501C>T	c.(499-501)CAC>CAT	p.H167H	ODF2_uc010myb.1_Silent_p.H143H|ODF2_uc004bva.1_Silent_p.H120H|ODF2_uc004bvb.1_Silent_p.H143H|ODF2_uc004bvc.1_Silent_p.H143H|ODF2_uc010myc.1_Silent_p.H110H|ODF2_uc004bve.1_Silent_p.H148H|ODF2_uc004bvf.1_Silent_p.H162H	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	167	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1														0.106977	21.169967	54.126069	23	192	CC		KEEP	---	---	---	---	capture			Silent	SNP	130273488	130273488	11232	9	C	T	T	19	19	ODF2	T	1	1
KIAA0649	9858	broad.mit.edu	36	9	137519701	137519701	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:137519701G>C	uc004cfr.1	+	c.3524G>C	c.(3523-3525)AGG>ACG	p.R1175T	KIAA0649_uc010nas.1_Missense_Mutation_p.R1175T	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	1175						nucleolus	protein binding			ovary(1)|central_nervous_system(1)	2														0.16	13.774545	19.275027	8	42	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	Missense_Mutation	SNP	137519701	137519701	8494	9	G	C	C	35	35	KIAA0649	C	3	3
MAGEC2	51438	broad.mit.edu	36	X	141119407	141119407	+	Missense_Mutation	SNP	G	T	T			TCGA-12-0619-01	TCGA-12-0619-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:141119407G>T	uc004fbu.1	-	c.33C>A	c.(31-33)AAC>AAA	p.N11K	MAGEC2_uc010nsm.1_Missense_Mutation_p.N11K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	11						cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.82266	598.436591	618.339749	167	36	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141119407	141119407	9562	23	G	T	T	40	40	MAGEC2	T	3	3
CD99L2	83692	broad.mit.edu	36	X	149714387	149714387	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0619-01	TCGA-12-0619-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:149714387T>C	uc004fel.1	-	c.380A>G	c.(379-381)GAT>GGT	p.D127G	CD99L2_uc004fem.1_Missense_Mutation_p.D78G|CD99L2_uc004fen.1_Missense_Mutation_p.D55G|CD99L2_uc004feo.1_Non-coding_Transcript|CD99L2_uc004fek.1_Non-coding_Transcript	NM_031462	NP_113650	Q8TCZ2	C99L2_HUMAN	CD99 antigen-like 2 isoform E3'-E4'-E3-E4	127	Extracellular (Potential).				cell adhesion	cell junction|integral to membrane				large_intestine(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.224335	168.494431	186.853284	59	204	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	149714387	149714387	3179	23	T	C	C	50	50	CD99L2	C	4	4
KLHL4	56062	broad.mit.edu	36	X	86773934	86773934	+	Missense_Mutation	SNP	C	A	A			TCGA-12-0619-01	TCGA-12-0619-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:86773934C>A	uc004efa.1	+	c.1393C>A	c.(1393-1395)CGT>AGT	p.R465S	KLHL4_uc004efb.1_Missense_Mutation_p.R465S	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 2	465	Kelch 1.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5														0.754386	154.654117	158.013292	43	14	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86773934	86773934	8705	23	C	A	A	23	23	KLHL4	A	3	3
MMP12	4321	broad.mit.edu	36	11	102244005	102244006	+	Frame_Shift_Ins	INS	-	T	T			TCGA-12-0619-01	TCGA-12-0619-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102244005_102244006insT	uc001phk.1	-	c.629_630insA	c.(628-630)ACCfs	p.T210fs		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	210					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)									0.31			4	9				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	102244005	102244006	10041	11	-	T	T	47	47	MMP12	T	5	5
ROBO3	64221	broad.mit.edu	36	11	124255658	124255663	+	In_Frame_Del	DEL	CGGAGT	-	-			TCGA-12-0619-01	TCGA-12-0619-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124255658_124255663delCGGAGT	uc001qbc.1	+	c.4093_4098delCGGAGT	c.(4093-4098)CGGAGTdel	p.RS1367del	ROBO3_uc001qbe.1_In_Frame_Del_p.RS292del|ROBO3_uc001qbd.1_In_Frame_Del_p.RS292del|ROBO3_uc001qbf.1_In_Frame_Del_p.RS251del	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	1367_1368	Cytoplasmic (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)										0.67			4	2				---	---	---	---	capture_indel			In_Frame_Del	DEL	124255658	124255663	13994	11	CGGAGT	-	-	23	23	ROBO3	-	5	5
TTYH1	57348	broad.mit.edu	36	19	59639113	59639116	+	Frame_Shift_Del	DEL	TCTA	-	-			TCGA-12-0619-01	TCGA-12-0619-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:59639113_59639116delTCTA	uc002qfr.1	+	c.1299_1302delTCTA	c.(1297-1302)CGTCTAfs	p.R433fs	TTYH1_uc002qfq.1_Frame_Shift_Del_p.S449fs|TTYH1_uc002qfs.1_Non-coding_Transcript|TTYH1_uc002qft.1_Frame_Shift_Del_p.S450fs	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN	tweety 1 isoform 2	Error:Variant_position_missing_in_Q9H313_after_alignment					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)										0.37			106	181				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	59639113	59639116	17294	19	TCTA	-	-	58	58	TTYH1	-	5	5
GNB4	59345	broad.mit.edu	36	3	180619882	180619883	+	Frame_Shift_Ins	INS	-	G	G			TCGA-12-0619-01	TCGA-12-0619-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:180619882_180619883insG	uc003fjv.2	-	c.201_202insC	c.(199-204)TCCAGGfs	p.S67fs		NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	guanine nucleotide-binding protein, beta-4	67_68	WD 1.				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			skin(2)	2	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			Melanoma(105;1405 1491 7265 20440 33721)								0.38			103	166				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	180619882	180619883	6789	3	-	G	G	55	55	GNB4	G	5	5
RPGR	6103	broad.mit.edu	36	X	38030125	38030136	+	In_Frame_Del	DEL	TCCCCTTCCACT	-	-			TCGA-12-0619-01	TCGA-12-0619-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:38030125_38030136delTCCCCTTCCACT	uc004ded.1	-	c.3060_3071delAGTGGAAGGGGA	c.(3058-3072)GAAGTGGAAGGGGAG>GAG	p.1020_1024EVEGE>E	RPGR_uc004deb.1_Intron|RPGR_uc004dea.1_Intron|RPGR_uc004dec.1_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	810_814	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														0.83			10	2				---	---	---	---	capture_indel			In_Frame_Del	DEL	38030125	38030136	14027	23	TCCCCTTCCACT	-	-	54	54	RPGR	-	5	5
