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	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	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	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PCSK5	5125	broad.mit.edu	37	9	78796501	78796501	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr9:78796501G>A	uc004akc.2	+	15	2729	c.2191G>A	c.(2191-2193)Gat>Aat	p.D731N	PCSK5_uc004ajz.3_Missense_Mutation_p.D731N|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Silent_p.R5R	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	731	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTCATATCAGGATACCAGTAA	0.433000														63			5		0	0	1.23904e-05	0	0
MAST1	22983	broad.mit.edu	37	19	12962960	12962960	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:12962960T>C	uc002mvm.3	+	8	1036	c.908T>C	c.(907-909)cTg>cCg	p.L303P	MAST1_uc021upp.1_Missense_Mutation_p.L127P	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	303					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TACCACCTGCTGGAGGCGGCC	0.642000														52			9		0	0	2.17888e-05	0	0
NAV1	89796	broad.mit.edu	37	1	201780773	201780773	+	Silent	SNP	C	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:201780773C>A	uc021phi.1	+	24	5187	c.4840C>A	c.(4840-4842)Cgg>Agg	p.R1614R	NAV1_uc001gwu.3_Silent_p.R1611R|NAV1_uc001gwx.3_Silent_p.R1220R	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1614					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCAGATAGACCGGGAAACAGG	0.517000														187			9		0.000274275	0.00716887	0.000274275	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140725065	140725065	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:140725065T>C	uc003ljm.2	+	0	1465	c.1465T>C	c.(1465-1467)Tat>Cat	p.Y489H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.Y489H	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	491	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCATCACTTATGCATTGAC	0.552000														96			5		0	0	1.23904e-05	0	0
SMAD5	4090	broad.mit.edu	37	5	135489586	135489586	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:135489586A>G	uc003lbj.1	+	3	581	c.137A>G	c.(136-138)aAg>aGg	p.K46R	SMAD5_uc003lbk.1_Missense_Mutation_p.K46R|SMAD5_uc003lbl.1_Missense_Mutation_p.K46R	NM_001001419	NP_001001419	Q99717	SMAD5_HUMAN	Homo sapiens SMAD family member 5 (SMAD5), transcript variant 2, mRNA.	46	MH1.|Poly-Lys.				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAAAAGAAAAAGGGTGCCATG	0.473000														79			4		0	0	0.00024832	0	0
APOB	338	broad.mit.edu	37	2	21227313	21227313	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:21227313C>T	uc002red.3	-	27	12043	c.11915G>A	c.(11914-11916)gGa>gAa	p.G3972E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3972					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGCGCTTTTCCTTCCCATTC	0.463000														360			44		0	0	0.000147903	0	0
IFIH1	64135	broad.mit.edu	37	2	163174366	163174367	+	Splice_Site	DNP	CG	AT	AT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:163174366_163174367CG>AT	uc002uce.3	-	1	675	c.453_splice	c.e1+1	p.R151_splice	IFIH1_uc002ucf.3_Splice_Site_p.R151_splice	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	151	CARD 2.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	p.R151R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GACACCTACCCGGTTTCTGTCT	0.490000														483			12		0	0	6.4e-05	0	0
TUBB2A	7280	broad.mit.edu	37	6	3154832	3154832	+	Silent	SNP	G	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:3154832G>T	uc003mvc.3	-	3	689	c.603C>A	c.(601-603)tcC>tcA	p.S201S	TUBB2A_uc003mvb.3_Silent_p.S194S	NM_001069	NP_001060	Q13885	TBB2A_HUMAN	Homo sapiens tubulin, beta 2A class IIa (TUBB2A), mRNA.	201					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CGTTATCAATGGAGTAGGTTT	0.592000														108			7		0.000274275	0.00716887	0.000274275	1	0
RXFP2	122042	broad.mit.edu	37	13	32367120	32367120	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr13:32367120G>A	uc001utt.3	+	15	1752	c.1681G>A	c.(1681-1683)Gat>Aat	p.D561N	RXFP2_uc010aba.3_Missense_Mutation_p.D537N	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	561						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTGGAATAAGGATTATTTTGG	0.368000														56			9		0	0	2.17888e-05	0	0
SLC2A3	6515	broad.mit.edu	37	12	8074018	8074019	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:8074018_8074019GG>AA	uc001qtr.3	-	9	1743_1744	c.1481_1482CC>TT	c.(1480-1482)acc>aTT	p.T494I		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	494					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CTTAGACATTGGTGGTGGTCTC	0.569000														262			27		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9088055	9088056	+	Nonsense_Mutation	DNP	CG	AT	AT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:9088055_9088056CG>AT	uc002mkp.3	-	0	3963_3964	c.3759_3760CG>AT	c.(3757-3762)ctcgga>ctATga	p.G1254*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1254	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCGTGTGCTCCGAGGTGGATGC	0.510000														383			7		0	0	6.4e-05	0	0
TRPC5	7224	broad.mit.edu	37	X	111078209	111078209	+	Silent	SNP	G	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chrX:111078209G>T	uc004epl.1	-	6	2755	c.1836C>A	c.(1834-1836)tcC>tcA	p.S612S	TRPC5_uc004epm.1_Silent_p.S612S	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	612					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCACTACCAGGGAGATGACAT	0.418000														165			8		1.58986e-06	4.28403e-05	3.86212e-05	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144864154	144864155	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:144864154_144864155GG>TT	uc021ouh.1	-	35	6242_6243	c.5940_5941CC>AA	c.(5938-5943)tccctc>tcAAtc	p.L1981I	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.L1981I|PDE4DIP_uc001elx.4_Missense_Mutation_p.L1875I|PDE4DIP_uc001elv.4_Missense_Mutation_p.L988I|PDE4DIP_uc001ema.3_Missense_Mutation_p.L168I	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1981					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.S1980S(3)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTTCCTGGAGGGAAAGACGTT	0.470000			T	PDGFRB	MPD									509			15		0	0	6.4e-05	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719052	140719052	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:140719052C>T	uc003ljk.2	+	0	699	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.L172F	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	172	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGTACGCACTCAACCCAAA	0.537000														77			9		0	0	2.17888e-05	0	0
HCLS1	3059	broad.mit.edu	37	3	121366201	121366201	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:121366201C>T	uc003eeh.4	-	3	378	c.253G>A	c.(253-255)Ggt>Agt	p.G85S	HCLS1_uc011bjj.2_Missense_Mutation_p.G85S|HCLS1_uc011bjk.1_Non-coding_Transcript|HCLS1_uc011bjl.1_Missense_Mutation_p.G85S	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	85					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCAAACCGACCTCCATAGCCA	0.483000														158			14		0	0	7.07596e-05	0	0
abParts	0	broad.mit.edu	37	14	106967281	106967281	+	RNA	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:106967281G>A	uc021ser.1	-	263		c.10219C>T								Parts of antibodies, mostly variable regions.																		TGCCTTGCAGGAAACCTTCAC	0.562000														58			12		0	0	6.40141e-05	0	0
OR4A15	81328	broad.mit.edu	37	11	55135894	55135894	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:55135894G>A	uc010rif.2	+	0	535	c.535G>A	c.(535-537)Gga>Aga	p.G179R		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GGCCTGGATTGGAGGCTTTCT	0.433000														171			35		0	0	0.000319135	0	0
NEBL	10529	broad.mit.edu	37	10	21124516	21124516	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:21124516C>T	uc001iqi.3	-	13	1772	c.1375G>A	c.(1375-1377)Ggg>Agg	p.G459R	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	459					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATTCCTTTCCCTTTAATTATT	0.448000														197			19		0	0	0.000175454	0	0
COL4A4	1286	broad.mit.edu	37	2	228012300	228012300	+	Splice_Site	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:228012300C>T	uc021vxr.1	-	1	1	c.-100_splice	c.e1-1		COL4A4_uc021vxs.1_Splice_Site	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.						axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AAAGTCTGTTCCTGTTAGATA	0.328000														25			5		0	0	1.23904e-05	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653866	46653866	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr22:46653866G>A	uc003bhh.3	-	0	5354	c.5354C>T	c.(5353-5355)tCg>tTg	p.S1785L		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1785					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GATTTTAGACGAGCTTTCAGG	0.423000														174			53		0	0	0.000147903	0	0
RGS7	6000	broad.mit.edu	37	1	241099926	241099926	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:241099926C>T	uc001hyv.2	-	4	637	c.307G>A	c.(307-309)Gat>Aat	p.D103N	RGS7_uc010pyh.2_Missense_Mutation_p.D77N|RGS7_uc010pyj.1_Missense_Mutation_p.D19N|RGS7_uc001hyu.2_Missense_Mutation_p.D103N|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.D103N	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	103	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTGCCATCATCCTTGAGTGTG	0.398000														142			26		0	0	0.000184323	0	0
VPRBP	9730	broad.mit.edu	37	3	51475831	51475831	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:51475831C>T	uc003dbe.2	-	7	781	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	VPRBP_uc021wys.1_Missense_Mutation_p.R198Q|VPRBP_uc003dbg.2_Missense_Mutation_p.R199Q	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	199					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AGAGAGCTTCCGTGGACTGGG	0.507000														157			20		0	0	0.000295444	0	0
ELN	2006	broad.mit.edu	37	7	73474766	73474766	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:73474766G>A	uc003tzw.3	+	24	1791	c.1700G>A	c.(1699-1701)gGa>gAa	p.G567E	ELN_uc003tzn.3_Missense_Mutation_p.G561E|ELN_uc003tzy.3_Missense_Mutation_p.G537E|ELN_uc003tzz.3_Missense_Mutation_p.G480E|ELN_uc003tzo.3_Missense_Mutation_p.G513E|ELN_uc003tzp.3_Missense_Mutation_p.G472E|ELN_uc003tzq.3_Missense_Mutation_p.G425E|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.G542E|ELN_uc003tzt.3_Missense_Mutation_p.G566E|ELN_uc003tzu.3_Missense_Mutation_p.G547E|ELN_uc003tzv.3_Missense_Mutation_p.G532E|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G551E|ELN_uc011kff.2_Missense_Mutation_p.G561E	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	590	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGCGTCCCTGGACTTGGAGTT	0.632000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							69			17		0	0	9.7654e-05	0	0
FRY	10129	broad.mit.edu	37	13	32798442	32798442	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr13:32798442G>A	uc001utx.3	+	36	5332	c.4836G>A	c.(4834-4836)ccG>ccA	p.P1612P	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGCCCTTACCGATGCCTTGTA	0.572000														54			9		0	0	0.000274275	0	0
SLC22A10	387775	broad.mit.edu	37	11	63072214	63072215	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:63072214_63072215CC>AA	uc009yor.3	+	8	1659_1660	c.1451_1452CC>AA	c.(1450-1452)ccc>cAA	p.P484Q	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_3'UTR	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	484						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCACTGGCTCCCCTCTTGATGA	0.401000														98			7		0	0	6.4e-05	0	0
PEG3	5178	broad.mit.edu	37	19	57325750	57325750	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:57325750G>A	uc002qnu.2	-	6	4411	c.4060C>T	c.(4060-4062)Cat>Tat	p.H1354Y	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H1325Y|PEG3_uc002qnv.2_Missense_Mutation_p.H1354Y|PEG3_uc002qnw.2_Missense_Mutation_p.H1230Y|PEG3_uc002qnx.2_Missense_Mutation_p.H1228Y|PEG3_uc010etr.2_Missense_Mutation_p.H1354Y	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1354	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H1354Q(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTTCCAGATGAAGCTCCTTA	0.453000														34			8		0	0	2.17888e-05	0	0
SLC26A10	65012	broad.mit.edu	37	12	58017649	58017649	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:58017649C>T	uc001spe.3	+	7	1395	c.1084C>T	c.(1084-1086)Ctg>Ttg	p.L362L	SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_5'Flank	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	362						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CACAGTGGTCCTGTCGGTGCT	0.567000														119			10		0	0	6.40141e-05	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163237	32163237	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:32163237G>T	uc003obb.3	-	29	6128	c.5989C>A	c.(5989-5991)Caa>Aaa	p.Q1997K	GPSM3_uc003oay.4_5'Flank|GPSM3_uc003oaz.3_5'UTR|NOTCH4_uc011dpt.2_3'UTR|NOTCH4_uc003oba.3_Missense_Mutation_p.Q657K|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1997					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCTCCTCCTTGGTTTATGGGC	0.502000														265			9		6.40141e-05	0.00170732	6.40141e-05	1	0
SULT1A1	6817	broad.mit.edu	37	16	28620051	28620051	+	Silent	SNP	G	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:28620051G>T	uc002dqn.3	-	4	991	c.399C>A	c.(397-399)ctC>ctA	p.L133L	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Silent_p.L42L|SULT1A1_uc002dqi.3_Silent_p.L42L|SULT1A1_uc002dqk.3_Silent_p.L42L|SULT1A1_uc002dql.3_Silent_p.L42L|SULT1A1_uc002dqm.3_Intron|SULT1A1_uc002dqp.3_Silent_p.L42L	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	42					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						AGGTGCTGATGAGCAGGTCAT	0.657000														54			7		1.06961e-07	2.88961e-06	0.000157383	1	0
TTN	7273	broad.mit.edu	37	2	179437307	179437307	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:179437307C>T	uc021vsy.1	-	274	66073	c.65848G>A	c.(65848-65850)Gat>Aat	p.D21950N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D15645N|TTN_uc021vta.1_Missense_Mutation_p.D15578N|TTN_uc021vtb.1_Missense_Mutation_p.D15453N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22877	Fibronectin type-III 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGGTGTATCGAGAACTCTA	0.418000														73			12		0	0	6.40141e-05	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44486602	44486602	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:44486602C>T	uc002xqd.3	+	0	383	c.138C>T	c.(136-138)tcC>tcT	p.S46S	ACOT8_uc002xqa.2_5'Flank|ACOT8_uc010zxe.2_5'Flank|ACOT8_uc002xqc.2_5'Flank|ACOT8_uc010zxf.2_5'Flank|ZSWIM3_uc010zxg.2_5'UTR	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	46							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ATGGCACCTCCATCCGCGAAG	0.647000														60			9		0	0	0.000274275	0	0
RYR2	6262	broad.mit.edu	37	1	237666774	237666774	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:237666774C>T	uc001hyl.1	+	21	2702	c.2582C>T	c.(2581-2583)gCc>gTc	p.A861V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	861	4 X approximate repeats.				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|cytosol|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			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	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)			ACGCAAGCTGCCTTCACACCC	0.502000														81			11		0	0	0.00010058	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110033812	110033813	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:110033812_110033813CC>AA	uc001dxr.3	+	9	1642_1643	c.1627_1628CC>AA	c.(1627-1629)ccg>AAg	p.P543K	ATXN7L2_uc001dxs.3_Missense_Mutation_p.P170K|CYB561D1_uc010ovl.2_5'Flank|CYB561D1_uc010ovm.2_5'Flank|CYB561D1_uc001dxu.3_5'Flank|CYB561D1_uc001dxw.3_5'Flank|CYB561D1_uc010ovn.2_5'Flank|CYB561D1_uc010ovo.2_5'Flank|CYB561D1_uc009wfd.3_5'Flank|CYB561D1_uc010ovp.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	543										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CACGCCATCCCCGTCCTTCAGC	0.649000														247			9		0	0	6.4e-05	0	0
DLEC1	9940	broad.mit.edu	37	3	38141783	38141783	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:38141783C>T	uc003chp.1	+	18	2752	c.2731C>T	c.(2731-2733)Ccc>Tcc	p.P911S	DLEC1_uc003cho.1_Missense_Mutation_p.P911S|DLEC1_uc010hgv.1_Missense_Mutation_p.P911S|DLEC1_uc003chr.1_Missense_Mutation_p.P17S|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	911					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GCAGGTGTCTCCCTTCGACAT	0.587000														126			12		0	0	0.000219431	0	0
MUC16	94025	broad.mit.edu	37	19	9009652	9009653	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:9009652_9009653CC>AT	uc002mkp.3	-	38	39277_39278	c.39073_39074GG>AT	c.(39073-39075)ggg>ATg	p.G13025M	MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13027	SEA 7.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATGTCCTCCCCATACTGCAGA	0.550000														78			6		0	0	6.4e-05	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16810768	16810768	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:16810768C>T	uc010rcu.1	-	22	3250	c.3235G>A	c.(3235-3237)Gag>Aag	p.E1079K	PLEKHA7_uc001mmo.3_Missense_Mutation_p.E1078K|PLEKHA7_uc001mmm.3_Missense_Mutation_p.E181K|PLEKHA7_uc010rcv.2_Missense_Mutation_p.E653K|PLEKHA7_uc001mmn.3_Missense_Mutation_p.E787K	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	1078					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TTCATGCGCTCCAGCTGCTCC	0.627000														114			9		0	0	2.17888e-05	0	0
OTOA	146183	broad.mit.edu	37	16	21730463	21730463	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:21730463C>T	uc002djh.3	+	14	1640	c.1639C>T	c.(1639-1641)Ctg>Ttg	p.L547L	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.L468L|OTOA_uc002dji.3_Silent_p.L223L|OTOA_uc010vbk.2_Silent_p.L195L	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	561					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.L547L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GGCTCTGTTCCTGTATGAGCT	0.522000														70			6		0	0	8.12818e-05	0	0
TRPC5	7224	broad.mit.edu	37	X	111020090	111020090	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chrX:111020090C>T	uc004epl.1	-	10	3292	c.2373G>A	c.(2371-2373)cgG>cgA	p.R791R		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	791					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.A790P(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGATTTGGCCCGAGCCCCAC	0.483000														100			18		0	0	0.000132079	0	0
ANK3	288	broad.mit.edu	37	10	61833963	61833963	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:61833963C>T	uc001jky.3	-	36	7014	c.6676G>A	c.(6676-6678)Gaa>Aaa	p.E2226K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2226					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCATCTTCTTCACTACTGGCT	0.408000														113			14		0	0	0.000219431	0	0
ZNFX1	57169	broad.mit.edu	37	20	47864578	47864578	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:47864578C>T	uc002xui.3	-	13	5230	c.4983G>A	c.(4981-4983)caG>caA	p.Q1661Q		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1661							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAAGCCGTTCCTGGCTGGTTG	0.493000														92			19		0	0	7.07596e-05	0	0
ABCD2	225	broad.mit.edu	37	12	40012962	40012962	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:40012962C>T	uc001rmb.2	-	0	882	c.456G>A	c.(454-456)atG>atA	p.M152I		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	152	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GGATGGCAATCATAAGCCACT	0.433000														79			9		0	0	2.17888e-05	0	0
FOLH1	2346	broad.mit.edu	37	11	49195014	49195014	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:49195014G>A	uc001ngy.3	-	9	1381	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L	FOLH1_uc009yly.3_Silent_p.L359L|FOLH1_uc009ylz.3_Silent_p.L359L|FOLH1_uc001ngz.3_Silent_p.L374L|FOLH1_uc009yma.3_Silent_p.L66L	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	374	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGACCTCCCAGAATGACATAT	0.388000														83			13		0	0	9.7654e-05	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290877	141290877	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chrX:141290877G>A	uc022cfj.1	-	0	897	c.897C>T	c.(895-897)ttC>ttT	p.F299F	MAGEC2_uc004fbu.2_Silent_p.F299F	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	299	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GACCCCACAGGAATTCATAAT	0.488000										HNSCC(46;0.14)				39			7		0	0	0.000274275	0	0
ERF	2077	broad.mit.edu	37	19	42752930	42752930	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:42752930T>G	uc002ote.4	-	3	1492	c.1334A>C	c.(1333-1335)gAt>gCt	p.D445A	ERF_uc002otd.4_Missense_Mutation_p.D176A	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	445					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CTCATCCTCATCACTGATGTC	0.672000														101			8		0	0	0.000274275	0	0
CSF2RB	1439	broad.mit.edu	37	22	37325760	37325760	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr22:37325760C>T	uc003aqa.4	+	5	846	c.629C>T	c.(628-630)gCc>gTc	p.A210V	CSF2RB_uc003aqc.4_Missense_Mutation_p.A210V	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	210	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ACCTACGTGGCCCGAGTACGG	0.657000														25			9		0	0	2.17888e-05	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58849896	58849896	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:58849896G>A	uc002qsc.2	+	2	827	c.680G>A	c.(679-681)aGg>aAg	p.R227K	ZSCAN22_uc010yhz.1_Missense_Mutation_p.G222R	NM_181846	NP_862829	P10073	ZSC22_HUMAN	Homo sapiens zinc finger and SCAN domain containing 22 (ZSCAN22), mRNA.	227					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GGTGCCTCGAGGAACAGTTCT	0.517000														135			28		0	0	0.000339439	0	0
PREX1	57580	broad.mit.edu	37	20	47276592	47276592	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:47276592C>T	uc002xtw.1	-	15	1769	c.1746G>A	c.(1744-1746)gaG>gaA	p.E582E		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	582	DEP 2.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACTCGCTCTTCTCCAGCACTG	0.537000														48			13		0	0	0.000308642	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698517	103698517	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr13:103698517T>C	uc001vpy.4	-	5	1610	c.1013A>G	c.(1012-1014)aAg>aGg	p.K338R		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	338					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCCATTTGCCTTATAAAACGA	0.358000														102			12		0	0	0.000219431	0	0
FSHR	2492	broad.mit.edu	37	2	49247239	49247240	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:49247239_49247240GG>TT	uc002rww.3	-	2	394_395	c.284_285CC>AA	c.(283-285)ccc>cAA	p.P95Q	FSHR_uc010fbn.3_Missense_Mutation_p.P95Q|FSHR_uc002rwx.3_Missense_Mutation_p.P95Q|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	95					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CATGTAATTTGGGAAGGTTGGA	0.411000									Gonadal Dysgenesis, 46 XX					373			8		0	0	6.4e-05	0	0
SLC4A9	83697	broad.mit.edu	37	5	139743728	139743728	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:139743728G>A	uc003lfm.2	+	9	1451	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	SLC4A9_uc003lfj.2_Silent_p.T448T|SLC4A9_uc011czg.1_Silent_p.T448T|SLC4A9_uc003lfl.2_Silent_p.T448T|SLC4A9_uc003lfk.2_Silent_p.T437T	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA.	472	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCAGCACGGGGCCAGTGC	0.617000														26			5		0	0	1.23904e-05	0	0
NOVA1	4857	broad.mit.edu	37	14	26917851	26917851	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:26917851G>A	uc001wqa.3	-	5	1258	c.472C>T	c.(472-474)Cca>Tca	p.P158S	NOVA1_uc001wpy.3_Missense_Mutation_p.P280S|NOVA1_uc001wpz.3_Missense_Mutation_p.P256S	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	283					RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GCAGCAGTTGGTAACACTTCA	0.493000														75			6		0	0	8.12818e-05	0	0
KANSL1	284058	broad.mit.edu	37	17	44248223	44248224	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:44248223_44248224GG>TT	uc002ikc.3	-	1	1757_1758	c.1286_1287CC>AA	c.(1285-1287)ccc>cAA	p.P429Q	KANSL1_uc002ikd.3_Missense_Mutation_p.P429Q|KANSL1_uc010dav.3_Missense_Mutation_p.P429Q	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	429						MLL1 complex	protein binding										CTACTCACAGGGGTACATGACG	0.446000														396			11		0	0	6.4e-05	0	0
MYH15	22989	broad.mit.edu	37	3	108174625	108174626	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:108174625_108174626GG>AA	uc003dxa.1	-	20	2336_2337	c.2279_2280CC>TT	c.(2278-2280)tcc>tTT	p.S760F		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	760	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTATCTCCAAGGAGCCAAGTAA	0.411000														146			16		0	0	6.4e-05	0	0
AKR1D1	6718	broad.mit.edu	37	7	137792290	137792290	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:137792290A>C	uc003vtz.3	+	6	906	c.819A>C	c.(817-819)aaA>aaC	p.K273N	AKR1D1_uc011kqf.2_Missense_Mutation_p.K232N|AKR1D1_uc011kqe.1_Missense_Mutation_p.K273N|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	273					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCATTCCTAAAAGCTTTAATC	0.363000														76			24		0	0	9.22233e-05	0	0
KIAA1715	80856	broad.mit.edu	37	2	176812397	176812397	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:176812397G>C	uc010fqw.1	-	8	715	c.715C>G	c.(715-717)Caa>Gaa	p.Q239E	KIAA1715_uc010zes.1_Missense_Mutation_p.Q175E|KIAA1715_uc002ukd.1_Missense_Mutation_p.Q50E|KIAA1715_uc002ukc.1_Missense_Mutation_p.Q173E|KIAA1715_uc010zer.1_Missense_Mutation_p.Q173E|KIAA1715_uc010zet.1_Non-coding_Transcript			Q9C0E8	LNP_HUMAN	Homo sapiens KIAA1715 (KIAA1715), mRNA.	173	Pro-rich.					integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AGGTTTCTTTGAGCTGCAGTT	0.443000														90			7		0	0	0.000157383	0	0
COL5A2	1290	broad.mit.edu	37	2	189907957	189907957	+	Missense_Mutation	SNP	C	T	T	rs142186131		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:189907957C>T	uc002uqk.3	-	47	3666	c.3391G>A	c.(3391-3393)Ggt>Agt	p.G1131S	COL5A2_uc010frx.3_Missense_Mutation_p.G707S	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1131					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCATGATCACCTTTGTCACCA	0.423000														43			6		0	0	0.000157383	0	0
DNTT	1791	broad.mit.edu	37	10	98087355	98087355	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:98087355G>A	uc001kmf.3	+	6	1175	c.1005G>A	c.(1003-1005)cgG>cgA	p.R335R	DNTT_uc001kmg.3_Silent_p.R335R	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	335	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAGGGTTCCGGAGGTAAATAA	0.547000														136			11		0	0	0.000308642	0	0
SPEM1	374768	broad.mit.edu	37	17	7324290	7324290	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:7324290C>T	uc002ggv.3	+	2	321	c.296C>T	c.(295-297)cCt>cTt	p.P99L	SPEM1_uc010vtw.1_Intron	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN	Homo sapiens spermatid maturation 1 (SPEM1), mRNA.	99					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				ACCATGGACCCTGTGATGATG	0.592000														43			11		0	0	6.40141e-05	0	0
ATXN7	6314	broad.mit.edu	37	3	63965609	63965609	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:63965609C>T	uc003dlv.3	+	5	1071	c.518C>T	c.(517-519)tCc>tTc	p.S173F	ATXN7_uc003dlw.4_Missense_Mutation_p.S173F|ATXN7_uc021wzy.1_Missense_Mutation_p.S173F|ATXN7_uc010hnw.3_Missense_Mutation_p.S28F|ATXN7_uc011bfn.2_Missense_Mutation_p.S28F	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	173	Poly-Ser.|Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CATAGCTCATCCAGCAAGCCG	0.428000														73			7		0	0	0.000274275	0	0
PPM1B	5495	broad.mit.edu	37	2	44428393	44428394	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:44428393_44428394GG>TT	uc002rtt.3	+	1	483_484	c.55_56GG>TT	c.(55-57)ggg>TTg	p.G19L	PPM1B_uc002rts.3_Missense_Mutation_p.G19L|PPM1B_uc002rtu.3_Missense_Mutation_p.G19L|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Missense_Mutation_p.G19L|PPM1B_uc002rtx.3_Missense_Mutation_p.G19L	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	19					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCATGGTGCTGGGAATGGTTTA	0.406000														505			11		0	0	6.4e-05	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43939501	43939501	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:43939501C>T	uc010yny.2	+	14	2522	c.2439C>T	c.(2437-2439)acC>acT	p.T813T	PLEKHH2_uc002rte.3_3'UTR|PLEKHH2_uc002rtf.3_Silent_p.T812T	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	813	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding	p.T813P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCAAACCCACCATGAAGGGAT	0.488000														220			31		0	0	0.000409698	0	0
AHI1	54806	broad.mit.edu	37	6	135726089	135726089	+	Splice_Site	SNP	T	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:135726089T>C	uc003qgi.3	-	22	3372	c.2988_splice	c.e22+1	p.K996_splice	AHI1_uc003qgf.3_Splice_Site|AHI1_uc003qgg.3_Splice_Site_p.K446_splice|AHI1_uc003qgh.3_Splice_Site_p.K996_splice|AHI1_uc003qgj.3_Splice_Site_p.K996_splice|AHI1_uc003qgk.4_Splice_Site|AHI1_uc003qgl.3_Splice_Site_p.K996_splice	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	996						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AACTACTTACTTTTGCAGCAC	0.323000														36			7		0	0	0.000274275	0	0
KLF11	8462	broad.mit.edu	37	2	10186469	10186470	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:10186469_10186470GG>TT	uc002raf.1	+	1	397_398	c.235_236GG>TT	c.(235-237)ggg>TTg	p.G79L	KLF11_uc021vdq.1_Missense_Mutation_p.G62L|KLF11_uc010yjc.2_Missense_Mutation_p.G62L	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	79					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		CTCTGACTCTGGGGATGTCACC	0.530000														411			11		0	0	6.4e-05	0	0
SCNN1G	6340	broad.mit.edu	37	16	23200820	23200820	+	Missense_Mutation	SNP	G	A	A	rs140901058		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:23200820G>A	uc002dlm.1	+	2	585	c.446G>A	c.(445-447)gGa>gAa	p.G149E		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	149					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GTCTCAGAGGGAAAGCAGCCT	0.577000														153			23		0	0	9.22233e-05	0	0
USP24	23358	broad.mit.edu	37	1	55591072	55591072	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:55591072G>A	uc021onw.1	-	33	4134	c.3881C>T	c.(3880-3882)tCc>tTc	p.S1294F	USP24_uc001cyg.4_Missense_Mutation_p.S1128F	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	1294					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTGTCGGTAGGATGACTTTTC	0.458000														90			14		0	0	9.7654e-05	0	0
GLIS1	148979	broad.mit.edu	37	1	53980410	53980410	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:53980410C>T	uc001cvr.1	-	6	1813	c.1246G>A	c.(1246-1248)Ggc>Agc	p.G416S		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	416					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGCAGGAGGCCCGATGCAAGT	0.612000														47			7		0	0	0.000157383	0	0
TRIM15	89870	broad.mit.edu	37	6	30131599	30131599	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:30131599G>A	uc010jrx.3	+	0	617	c.138G>A	c.(136-138)atG>atA	p.M46I	TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank	NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	46					mesodermal cell fate determination	intracellular	zinc ion binding	p.Q45H(1)		large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TCTCCCAGATGGGGGCCCAAT	0.687000														32			7		0	0	0.000157383	0	0
KEL	3792	broad.mit.edu	37	7	142640957	142640957	+	Missense_Mutation	SNP	G	A	A	rs147489746		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:142640957G>A	uc003wcb.3	-	13	1715	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	502					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CAGGAAGCTCGATCCAAGCTG	0.547000														25			4		0	0	1.23904e-05	0	0
ABCA10	10349	broad.mit.edu	37	17	67145059	67145059	+	Nonsense_Mutation	SNP	A	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:67145059A>C	uc010dfa.1	-	39	5420	c.4541T>G	c.(4540-4542)tTa>tGa	p.L1514*	ABCA10_uc002jhz.3_Non-coding_Transcript|ABCA10_uc010wqs.1_Nonsense_Mutation_p.L506*|ABCA10_uc010wqt.1_Non-coding_Transcript	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	1514					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ACAGAGTTCTAAGAATACCTA	0.378000														80			17		0	0	0.000422831	0	0
ATM	472	broad.mit.edu	37	11	108225536	108225536	+	Splice_Site	SNP	A	G	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:108225536A>G	uc001pkb.1	+	61	9172	c.8787_splice	c.e61-2	p.R2929_splice	ATM_uc009yxr.1_Splice_Site_p.R2929_splice|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Splice_Site_p.R1581_splice	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2929	PI3K/PI4K.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTTTGACTCTAGATGCTGTGA	0.338000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				163			11		0	0	0.00010058	0	0
NEO1	4756	broad.mit.edu	37	15	73536798	73536798	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr15:73536798G>C	uc002avm.4	+	8	1757	c.1565G>C	c.(1564-1566)gGa>gCa	p.G522A	NEO1_uc010ukx.2_Missense_Mutation_p.G522A|NEO1_uc010uky.2_Missense_Mutation_p.G522A|NEO1_uc002avn.4_Missense_Mutation_p.G542A|NEO1_uc010ukz.2_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	522	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CATGGCTCAGGAGAGAGTTCA	0.483000														58			13		0	0	0.000308642	0	0
SORCS3	22986	broad.mit.edu	37	10	107015523	107015523	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:107015523G>A	uc001kyi.1	+	23	3528	c.3301G>A	c.(3301-3303)Gta>Ata	p.V1101I		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1101						integral to membrane	neuropeptide receptor activity	p.G1100R(1)|p.G1100G(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAAGCCGGGGGTACAAGTCAT	0.458000														32			6		0	0	0.000274275	0	0
SLC38A4	55089	broad.mit.edu	37	12	47186763	47186763	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:47186763C>T	uc001rpi.2	-	2	491	c.92G>A	c.(91-93)gGa>gAa	p.G31E	SLC38A4_uc001rpj.2_Missense_Mutation_p.G31E|SLC38A4_uc009zkl.2_Missense_Mutation_p.G31E	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	31					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTCTGAATTTCCTATCCCGAT	0.428000														174			8		0	0	0.000274275	0	0
DHX58	79132	broad.mit.edu	37	17	40256929	40256930	+	Missense_Mutation	DNP	CG	AT	AT	rs140286371	byFrequency	TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:40256929_40256930CG>AT	uc002hyw.3	-	10	1640_1641	c.1417_1418CG>AT	c.(1417-1419)cgg>ATg	p.R473M	DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Missense_Mutation_p.R466M	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	473	Helicase C-terminal.			R -> W (in Ref. 1; BAB13818).	innate immune response	cytoplasm	ATP binding|DNA binding|RNA binding|helicase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGATCGGCCCGGGCACGGCCC	0.624000														64			6		0	0	6.4e-05	0	0
MYH15	22989	broad.mit.edu	37	3	108110754	108110754	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:108110754C>T	uc003dxa.1	-	37	5400	c.5343G>A	c.(5341-5343)ctG>ctA	p.L1781L		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1781						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCTTCTTCTTCAGTTCTTCTG	0.413000														125			15		0	0	9.7654e-05	0	0
CTNNA3	29119	broad.mit.edu	37	10	69366759	69366759	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:69366759C>T	uc009xpn.1	-	2	271	c.148G>A	c.(148-150)Gga>Aga	p.G50R	CTNNA3_uc001jmw.2_Missense_Mutation_p.G50R|CTNNA3_uc001jmx.4_Missense_Mutation_p.G50R|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Missense_Mutation_p.G62R	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	50					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTCGAACGTCCTTTTTTCCTG	0.408000														68			10		0	0	3.86212e-05	0	0
CEP76	79959	broad.mit.edu	37	18	12691399	12691399	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:12691399G>A	uc002kri.3	-	6	1048	c.892C>T	c.(892-894)Cga>Tga	p.R298*	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_Nonsense_Mutation_p.R120*|CEP76_uc010wzz.2_Nonsense_Mutation_p.R223*|CEP76_uc010xaa.1_Nonsense_Mutation_p.R120*	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	298					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTGAGGGTCGAATTTGCAAA	0.348000														93			15		0	0	7.07596e-05	0	0
GPR179	440435	broad.mit.edu	37	17	36499253	36499253	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:36499253C>T	uc002hpz.3	-	0	441	c.420G>A	c.(418-420)ggG>ggA	p.G140G		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	140						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E139*(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCTTGGGTCCCCCTCGGCCA	0.607000														42			4		0	0	3.59834e-05	0	0
CCRL2	9034	broad.mit.edu	37	3	46450311	46450311	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:46450311C>T	uc010hjg.3	+	1	890	c.777C>T	c.(775-777)ttC>ttT	p.F259F	CCRL2_uc003cpp.4_Silent_p.F247F|CCRL2_uc010hjf.3_Silent_p.F247F|CCRL2_uc021wxc.1_Silent_p.F247F	NM_001130910	NP_003956	O00421	CCRL2_HUMAN	Homo sapiens chemokine (C-C motif) receptor-like 2 (CCRL2), transcript variant 2, mRNA.	247					chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TGGTAGTCTTCCTTCTGATGT	0.403000														292			23		0	0	0.000184323	0	0
INSR	3643	broad.mit.edu	37	19	7170679	7170681	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:7170679_7170681CC>AA	uc002mgd.1	-	5	1459_1461	c.1350_1352GG>TT	c.(1348-1353)cagggg>caTTg	p.450_451QG>H	INSR_uc002mge.1_Missense_Mutation_p.450_451QG>H|INSR_uc002mgf.3_Missense_Mutation_p.450_451QG>H	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	450					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAAGAGTTTCCCCTGAGTGATGG	0.478000														540			12		0	0	6.4e-05	0	0
PAPOLA	10914	broad.mit.edu	37	14	97009114	97009114	+	Silent	SNP	G	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:97009114G>T	uc001yfq.3	+	13	1390	c.1173G>T	c.(1171-1173)gtG>gtT	p.V391V	PAPOLA_uc001yfr.3_Silent_p.V391V|PAPOLA_uc010twv.2_Silent_p.V391V|PAPOLA_uc010avp.3_Silent_p.V141V	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	391					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TGTTCAGGGTGGGCTTGGTGG	0.378000														141			7		0.000274275	0.00716887	0.000274275	1	0
WDR49	151790	broad.mit.edu	37	3	167246892	167246892	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:167246892C>T	uc003fev.1	-	9	1602	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	WDR49_uc003feu.1_Missense_Mutation_p.R258Q|WDR49_uc011bpd.1_Missense_Mutation_p.R497Q|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	433										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GGTAAGGTATCGATTCATCTT	0.343000														88			7		0	0	0.000274275	0	0
PRR11	55771	broad.mit.edu	37	17	57275069	57275069	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:57275069C>T	uc002ixf.2	+	8	1245	c.933C>T	c.(931-933)acC>acT	p.T311T	PRR11_uc021uar.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	Homo sapiens proline rich 11 (PRR11), mRNA.	311										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CAGGTGGAACCCCTCTTACCA	0.408000														194			7		0	0	0.000274275	0	0
SLC24A3	57419	broad.mit.edu	37	20	19566131	19566131	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:19566131C>T	uc002wrl.3	+	5	752	c.555C>T	c.(553-555)ggC>ggT	p.G185G		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	185						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCATCGTGGGCTCAGCGGTAT	0.532000														170			38		0	0	0.000374591	0	0
TANC2	26115	broad.mit.edu	37	17	61498334	61498334	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:61498334T>C	uc002jal.4	+	24	5014	c.4991T>C	c.(4990-4992)aTt>aCt	p.I1664T	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.I775T	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1664							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAAGGGTCAATTGGGGGAATC	0.537000														93			5		0	0	1.23904e-05	0	0
TRIM22	10346	broad.mit.edu	37	11	5730298	5730298	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:5730298A>G	uc001mbr.3	+	7	1296	c.917A>G	c.(916-918)aAt>aGt	p.N306S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Missense_Mutation_p.N134S|TRIM22_uc009yes.3_Missense_Mutation_p.N302S|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	306	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GTGATGCTGAATCCAGGCAGT	0.393000														66			14		0	0	0.000219431	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73490736	73490736	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:73490736G>A	uc001xnm.3	-	1	1202	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	ZFYVE1_uc010arj.3_Nonsense_Mutation_p.Q161*	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA.	161						Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GTGCTTACCTGAATTTCTTCA	0.448000														206			20		0	0	0.000229342	0	0
CCDC85A	114800	broad.mit.edu	37	2	56611443	56611443	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:56611443G>A	uc002rzn.3	+	5	2117	c.1615G>A	c.(1615-1617)Gga>Aga	p.G539R	CCDC85A_uc021vhw.1_Non-coding_Transcript	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	539										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTCGTGTCCTGGAATTAGGCA	0.413000														75			17		0	0	0.000295444	0	0
VIP	7432	broad.mit.edu	37	6	153076434	153076434	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:153076434C>T	uc003qpe.3	+	3	433	c.261C>T	c.(259-261)acC>acT	p.T87T	VIP_uc003qpf.3_Silent_p.T87T|VIP_uc010kjd.3_Silent_p.T87T	NM_003381	NP_003372	P01282	VIP_HUMAN	Homo sapiens vasoactive intestinal peptide (VIP), transcript variant 1, mRNA.	87					G-protein coupled receptor protein signaling pathway|body fluid secretion|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity	p.T87T(2)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		GAGTTTTCACCAGTGACTTCA	0.318000														66			9		0	0	3.86212e-05	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447909	24447909	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:24447909C>T	uc001biq.2	-	6	1314	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	IL22RA1_uc010oeg.1_Missense_Mutation_p.E303K|IL22RA1_uc009vrb.2_Missense_Mutation_p.E235K|IL22RA1_uc010oeh.2_Missense_Mutation_p.E371K	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	371						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		AATTGAGCTTCGGGGGTCACC	0.627000														111			12		0	0	0.000308642	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16532070	16532070	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:16532070G>A	uc001ayc.1	-	8	1681	c.1544C>T	c.(1543-1545)cCc>cTc	p.P515L	ARHGEF19_uc009voo.1_5'UTR	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	515	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCTGGAAGGGCAGGATAAG	0.632000														24			5		0	0	3.59834e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					57			12		0	0	0.000308642	0	0
ZNF90	7643	broad.mit.edu	37	19	20229365	20229365	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:20229365C>T	uc002nor.2	+	3	1141	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	ZNF90_uc021url.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	334						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I334I(1)		breast(1)|lung(2)|ovary(1)|skin(1)	5						ATAAGAGAATCCATACTGGAG	0.408000														12			6		0	0	3.59834e-05	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603804	140603804	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:140603804C>T	uc003ljb.3	+	0	727	c.727C>T	c.(727-729)Cct>Tct	p.P243S		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	243					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGAGTTTCCTCAGAGTCT	0.507000														69			12		0	0	0.000151284	0	0
PXDNL	137902	broad.mit.edu	37	8	52366211	52366211	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:52366211C>T	uc003xqu.4	-	9	1218	c.1117G>A	c.(1117-1119)Gga>Aga	p.G373R		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	373	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.E373Q(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGCCTGGATCCATCCAGCTCC	0.507000														36			11		0	0	6.40141e-05	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106053516	106053516	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:106053516C>T	uc001yrt.3	-	3	830	c.799G>A	c.(799-801)Gag>Aag	p.E267K	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		AGGTACTTCTCGCGGGGCAGC	0.647000														36			10		0	0	3.86212e-05	0	0
LRP6	4040	broad.mit.edu	37	12	12334114	12334115	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:12334114_12334115CC>AA	uc001rah.4	-	5	1377_1378	c.1235_1236GG>TT	c.(1234-1236)tgg>tTT	p.W412F	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.W412F	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	412	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTCGTGCAACCCAGTCCACAGC	0.465000														491			12		0	0	6.4e-05	0	0
CNST	163882	broad.mit.edu	37	1	246810596	246810596	+	Missense_Mutation	SNP	T	C	C	rs143401878		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:246810596T>C	uc001ibp.3	+	8	1471	c.1093T>C	c.(1093-1095)Tgc>Cgc	p.C365R	CNST_uc001ibo.4_Missense_Mutation_p.C365R	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	365					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GGAGCTGCTCTGCAGCGCTGA	0.597000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			35		0	0	0.000132358	0	0
NBPF1	55672	broad.mit.edu	37	1	16913547	16913548	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:16913547_16913548GG>TT	uc009vos.1	-	10	1663_1664	c.775_776CC>AA	c.(775-777)cca>AAa	p.P259K	NBPF1_uc009vot.1_5'UTR|NBPF1_uc001ayz.1_5'UTR|NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	259	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGGCTACCTGGGAGAATGTTT	0.401000														584			17		0	0	6.4e-05	0	0
DMWD	1762	broad.mit.edu	37	19	46289702	46289702	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:46289702G>A	uc002pdj.1	-	2	1098	c.1052C>T	c.(1051-1053)aCc>aTc	p.T351I	DMWD_uc021uwc.1_Missense_Mutation_p.P5S|DMWD_uc010eko.1_Missense_Mutation_p.T36I	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	351					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GGACCACACGGTGACCAGGTC	0.642000														65			10		0	0	0.00010058	0	0
PASD1	139135	broad.mit.edu	37	X	150841077	150841077	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chrX:150841077G>A	uc004fev.4	+	13	2192	c.1860G>A	c.(1858-1860)caG>caA	p.Q620Q		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	620						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAACAACAGCCCTCTGGCT	0.468000														34			6		0	0	0.000157383	0	0
SYNE1	23345	broad.mit.edu	37	6	152501270	152501270	+	Splice_Site	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:152501270C>T	uc021zhb.1	-	127	23683	c.23460_splice	c.e127+1	p.K7820_splice	SYNE1_uc003qos.4_Splice_Site_p.K2344_splice|SYNE1_uc003qot.4_Splice_Site_p.K7749_splice|SYNE1_uc003qou.4_Splice_Site_p.K7820_splice|SYNE1_uc011eez.2_Splice_Site_p.K22_splice|SYNE1_uc003qoq.4_Splice_Site_p.K22_splice|SYNE1_uc003qor.4_Splice_Site_p.K720_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7820					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATTCCATACCTTCTTGAGC	0.383000										HNSCC(10;0.0054)				55			10		0	0	2.17888e-05	0	0
PRDM2	7799	broad.mit.edu	37	1	14104971	14104971	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:14104971C>T	uc001avi.3	+	7	1537	c.681C>T	c.(679-681)ctC>ctT	p.L227L	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Silent_p.L227L|PRDM2_uc021ogk.1_Silent_p.L26L|PRDM2_uc001avk.3_Silent_p.L26L|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	227						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CGGCCACCCTCCAGGAGGTGG	0.582000														124			16		0	0	0.000308642	0	0
PLCB1	23236	broad.mit.edu	37	20	8637901	8637901	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:8637901G>A	uc002wnb.3	+	7	668	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	PLCB1_uc010zrb.1_Missense_Mutation_p.R121Q|PLCB1_uc002wna.3_Missense_Mutation_p.R222Q|PLCB1_uc002wnc.1_Missense_Mutation_p.R121Q	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	222					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTTTGCCCTCGACCTGAAATT	0.383000														77			13		0	0	9.7654e-05	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138453985	138453985	+	Silent	SNP	A	G	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:138453985A>G	uc003vuf.3	-	2	367	c.129T>C	c.(127-129)aaT>aaC	p.N43N	ATP6V0A4_uc003vug.3_Silent_p.N43N|ATP6V0A4_uc003vuh.3_Silent_p.N43N	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	43					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCTGTTCACATTCATATTTA	0.328000														106			5		0	0	3.59834e-05	0	0
EPHA6	285220	broad.mit.edu	37	3	97167475	97167475	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:97167475C>T	uc010how.1	+	6	1838	c.1795C>T	c.(1795-1797)Ctt>Ttt	p.L599F	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.4_5'UTR|EPHA6_uc003drr.4_5'UTR|EPHA6_uc003drt.3_5'UTR|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	504						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CATCACAGGTCTTAAGCCAGC	0.448000														79			6		0	0	3.59834e-05	0	0
IP6K1	9807	broad.mit.edu	37	3	49785291	49785291	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:49785291G>A	uc021wyl.1	-	1	836	c.183C>T	c.(181-183)tcC>tcT	p.S61S	IP6K1_uc003cxm.1_Silent_p.S61S|IP6K1_uc003cxn.1_Intron	NM_001242829	NP_001229758	Q92551	IP6K1_HUMAN	Homo sapiens inositol hexakisphosphate kinase 1 (IP6K1), transcript variant 3, mRNA.	61					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						CGGGAGGGAGGGACTCGTAAA	0.537000														35			6		0	0	8.12818e-05	0	0
SLC6A13	6540	broad.mit.edu	37	12	344274	344274	+	Silent	SNP	C	T	T	rs147679992	byFrequency	TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:344274C>T	uc001qic.2	-	6	903	c.813G>A	c.(811-813)acG>acA	p.T271T	SLC6A13_uc009zdj.2_Silent_p.T271T|SLC6A13_uc010sdl.2_Silent_p.T179T|SLC6A13_uc010sdm.1_Silent_p.T152T	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	271					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.L270L(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CCCACAGACGCGTGAGGTTTG	0.567000														54			12		0	0	0.000219431	0	0
CEP70	80321	broad.mit.edu	37	3	138224235	138224236	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:138224235_138224236CC>AA	uc003esl.3	-	12	1320_1321	c.1122_1123GG>TT	c.(1120-1125)ggggga>ggTTga	p.G375*	CEP70_uc011bmk.2_Nonsense_Mutation_p.G355*|CEP70_uc011bml.2_Nonsense_Mutation_p.G357*|CEP70_uc011bmm.2_Nonsense_Mutation_p.G223*|CEP70_uc003esm.3_Nonsense_Mutation_p.G375*	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	375					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTTTGGACTCCCCCTTTGGTCT	0.342000														482			12		0	0	6.4e-05	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566133	155566133	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:155566133G>A	uc002tyv.1	+	1	916	c.721G>A	c.(721-723)Ggt>Agt	p.G241S	KCNJ3_uc010zce.1_Intron|KCNJ3_uc021vrh.1_Missense_Mutation_p.G241S	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	241					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GACACCTGAGGGTGAGTTCCT	0.443000														75			10		0	0	0.00010058	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44031824	44031825	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:44031824_44031825CC>AA	uc002rtl.3	+	10	949_950	c.849_850CC>AA	c.(847-852)gcccac>gcAAac	p.H284N	DYNC2LI1_uc002rtk.3_Missense_Mutation_p.H283N|DYNC2LI1_uc010ynz.2_Missense_Mutation_p.H157N|DYNC2LI1_uc021vgq.1_Missense_Mutation_p.H157N	NM_001193464	NP_001180393	Q8TCX1	DC2L1_HUMAN	Homo sapiens dynein, cytoplasmic 2, light intermediate chain 1 (DYNC2LI1), transcript variant 4, mRNA.	283						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGCTTCATGCCCACTCACCTAT	0.347000														560			12		0	0	6.4e-05	0	0
PCLO	27445	broad.mit.edu	37	7	82582497	82582497	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:82582497G>A	uc003uhx.2	-	4	8061	c.7772C>T	c.(7771-7773)aCt>aTt	p.T2591I	PCLO_uc003uhv.2_Missense_Mutation_p.T2591I|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2522					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTGTTGGAGTCCCTGGTTC	0.448000														191			13		0	0	0.000219431	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75378079	75378079	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:75378079A>G	uc010tux.2	-	5	1064	c.536T>C	c.(535-537)cTa>cCa	p.L179P	RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc001xqx.1_5'Flank|RPS6KL1_uc021rwp.1_Missense_Mutation_p.L148P|RPS6KL1_uc001xqy.1_Missense_Mutation_p.L179P	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.	179	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GCACCTGGGTAGGCTCTGGGA	0.627000														53			7		0	0	0.000274275	0	0
KCTD8	386617	broad.mit.edu	37	4	44177029	44177029	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:44177029C>T	uc003gwu.3	-	1	1484	c.1200G>A	c.(1198-1200)tgG>tgA	p.W400*		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	400						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GTGGGGGTATCCATTGTACAG	0.498000										HNSCC(17;0.042)				180			39		0	0	0.000191422	0	0
CNOT1	23019	broad.mit.edu	37	16	58589751	58589751	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:58589751T>A	uc002env.3	-	19	2834	c.2541A>T	c.(2539-2541)gaA>gaT	p.E847D	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.E842D|CNOT1_uc002enx.3_Missense_Mutation_p.E847D|CNOT1_uc002enz.1_Missense_Mutation_p.E276D	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	847					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGCTGTTTGCTTCATCATCTA	0.413000														59			9		0	0	2.17888e-05	0	0
SLC6A14	11254	broad.mit.edu	37	X	115576098	115576098	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chrX:115576098C>T	uc004eqi.3	+	5	800	c.669C>T	c.(667-669)ctC>ctT	p.L223L	SLC6A14_uc011mtm.2_Non-coding_Transcript	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	223					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	AAGTGGCGCTCCAACGGTCAA	0.378000														34			10		0	0	6.40141e-05	0	0
CWH43	80157	broad.mit.edu	37	4	49034655	49034655	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:49034655C>T	uc003gyv.3	+	11	1763	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	CWH43_uc011bzl.2_Silent_p.I500I	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	527					GPI anchor biosynthetic process	integral to membrane		p.E526K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AGGGCGAGATCGCACCAGCCA	0.483000														121			23		0	0	0.000229342	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406162	105406163	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:105406162_105406163CC>AA	uc010axc.1	-	6	15745_15746	c.15625_15626GG>TT	c.(15625-15627)ggg>TTg	p.G5209L	AHNAK2_uc021sen.1_Missense_Mutation_p.G606L|AHNAK2_uc021seo.1_Missense_Mutation_p.G207L|AHNAK2_uc001ypx.2_Missense_Mutation_p.G5109L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5209						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTTCCAGCCCCGCCTCTGTCC	0.559000														308			13		0	0	6.4e-05	0	0
GRM1	2911	broad.mit.edu	37	6	146720330	146720330	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:146720330A>G	uc010khw.1	+	7	2625	c.2155A>G	c.(2155-2157)Acc>Gcc	p.T719A	GRM1_uc010khv.1_Missense_Mutation_p.T719A|GRM1_uc003qll.2_Missense_Mutation_p.T719A|GRM1_uc011edz.1_Missense_Mutation_p.T719A|GRM1_uc011eea.1_Missense_Mutation_p.T719A	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	719					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGTGCAACTAACCCTGGTGGT	0.517000														51			10		0	0	2.17888e-05	0	0
TIGD7	91151	broad.mit.edu	37	16	3350564	3350564	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:3350564C>A	uc021tcc.1	-	0	51	c.51G>T	c.(49-51)aaG>aaT	p.K17N	ZNF263_uc002cur.2_3'UTR|TIGD7_uc002cus.3_Missense_Mutation_p.K17N	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	Homo sapiens tigger transposable element derived 7 (TIGD7), mRNA.	17	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TACTTAGAACCTTCATTTTCT	0.328000														108			8		1.06961e-07	2.88961e-06	0.000157383	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	C	C	rs141357429	by1000genomes	TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:39274087G>C	uc002hvz.3	-	0	520	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000														9			3		0	0	6.4e-05	0	0
BCAT1	586	broad.mit.edu	37	12	25031517	25031517	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:25031517G>A	uc001rgd.4	-	4	984	c.457C>T	c.(457-459)Cca>Tca	p.P153S	BCAT1_uc001rgc.3_Missense_Mutation_p.P152S|BCAT1_uc010six.2_Missense_Mutation_p.P165S|BCAT1_uc010siy.2_Missense_Mutation_p.P116S|BCAT1_uc001rge.4_Missense_Mutation_p.P92S	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	153					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	GTTGAATATGGGACCCATTCT	0.363000														60			6		0	0	0.000274275	0	0
FAM171A1	221061	broad.mit.edu	37	10	15262951	15262951	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:15262951G>A	uc001iob.3	-	5	870	c.863C>T	c.(862-864)cCc>cTc	p.P288L		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	288						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ACCTGGGATGGGAGGGGACAT	0.552000														128			13		0	0	0.000422831	0	0
POTEA	340441	broad.mit.edu	37	8	43211927	43211928	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:43211927_43211928GG>AA	uc003xpz.1	+	11	1429_1430	c.1386_1387GG>AA	c.(1384-1389)caggat>caAAat	p.D463N	POTEA_uc003xqa.1_Missense_Mutation_p.D417N	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	463										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAAAAATCCAGGATGCAGTTAT	0.361000														68			10		0	0	6.4e-05	0	0
LRRC66	339977	broad.mit.edu	37	4	52883637	52883637	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:52883637A>G	uc003gzi.3	-	0	150	c.143T>C	c.(142-144)tTt>tCt	p.F48S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	48						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTTTCCGGTAAAAGAACAATT	0.333000														52			10		0	0	2.17888e-05	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52896717	52896717	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:52896717G>A	uc001cty.2	-	27	4932	c.4679C>T	c.(4678-4680)tCc>tTc	p.S1560F	ZCCHC11_uc001ctx.2_Missense_Mutation_p.S1559F	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	1559	Pro-rich.				RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GTTTACCAGGGAATTTGGAGC	0.463000														115			30		0	0	0.000409698	0	0
NLGN2	57555	broad.mit.edu	37	17	7319161	7319161	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:7319161G>A	uc002ggt.1	+	5	1442	c.1369G>A	c.(1369-1371)Gac>Aac	p.D457N		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	457					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	p.T456A(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GCTCTTTACTGACCACCAATG	0.577000														35			10		0	0	3.86212e-05	0	0
TOX2	84969	broad.mit.edu	37	20	42697318	42697318	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:42697318C>T	uc010ggo.3	+	8	1553	c.1513C>T	c.(1513-1515)Ctc>Ttc	p.L505F	TOX2_uc002xle.4_Missense_Mutation_p.L463F|TOX2_uc010ggp.3_Missense_Mutation_p.L463F|TOX2_uc002xlf.4_Missense_Mutation_p.L487F|TOX2_uc010zwk.2_Missense_Mutation_p.L383F	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ATCGCTCTACCTCACCTAATC	0.632000														25			6		0	0	8.12818e-05	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54894360	54894360	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:54894360G>A	uc001sgc.4	+	2	336	c.257G>A	c.(256-258)aGa>aAa	p.R86K	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.R36K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	86					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|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 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 T cell proliferation|positive regulation of actin filament polymerization|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|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GAGATAATTAGATTCCTCACC	0.393000														132			10		0	0	3.86212e-05	0	0
ALG5	29880	broad.mit.edu	37	13	37539795	37539795	+	Silent	SNP	T	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr13:37539795T>A	uc001uvy.3	-	7	757	c.690A>T	c.(688-690)ggA>ggT	p.G230G	ALG5_uc010teq.2_Silent_p.G200G|ALG5_uc010ter.2_Non-coding_Transcript	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	Homo sapiens asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) (ALG5), transcript variant 1, mRNA.	230					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TGTCCCTGATTCCTTTGACAC	0.413000														67			7		0	0	8.12818e-05	0	0
GIPC1	10755	broad.mit.edu	37	19	14591193	14591193	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:14591193C>T	uc002myt.3	-	5	849	c.579G>A	c.(577-579)gaG>gaA	p.E193E	GIPC1_uc002myv.3_Silent_p.E96E|GIPC1_uc002myu.3_Silent_p.E193E|GIPC1_uc002myw.3_Silent_p.E96E|GIPC1_uc002myx.3_Silent_p.E193E|GIPC1_uc002myy.3_Silent_p.E96E	NM_005716	NP_974223	O14908	GIPC1_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.	193	PDZ.				G-protein coupled receptor protein signaling pathway|endothelial cell migration|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GCCGGGCCACCTCGTAGTGCC	0.662000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			9		0	0	0.000274275	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621206	144621206	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:144621206G>A	uc003yyd.2	-	1	360	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	111					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGTCTCTCAAGGACATGCTGC	0.662000														68			11		0	0	0.00010058	0	0
ANAPC5	51433	broad.mit.edu	37	12	121785684	121785685	+	Splice_Site	DNP	CC	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:121785684_121785685CC>AA	uc001uag.3	-	2	330	c.208_splice	c.e2-1	p.G70_splice	ANAPC5_uc001uah.3_Splice_Site	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	70					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATATCTGGGCCCTGTGTAAAGG	0.361000														426			9		0	0	6.4e-05	0	0
CAPN3	825	broad.mit.edu	37	15	42652284	42652285	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr15:42652284_42652285CC>AA	uc001zpn.1	+	0	587_588	c.281_282CC>AA	c.(280-282)ccc>cAA	p.P94Q	CAPN3_uc001zpk.1_Intron|CAPN3_uc001zpl.1_Intron|CAPN3_uc010udf.1_Intron|CAPN3_uc010udg.1_Intron|CAPN3_uc001zpo.1_Missense_Mutation_p.P94Q|CAPN3_uc001zpp.1_Missense_Mutation_p.P94Q	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	94	Calpain catalytic.		Missing (in LGMD2A).		muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CAGAAGTTCCCCATCCAGTTCG	0.525000														282			10		0	0	6.4e-05	0	0
IDO1	3620	broad.mit.edu	37	8	39775637	39775637	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:39775637G>A	uc003xnm.3	+	2	328	c.214G>A	c.(214-216)Gac>Aac	p.D72N		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	72					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TCATCTCACAGACCACAAGTC	0.423000														103			22		0	0	5.49717e-05	0	0
OR4S1	256148	broad.mit.edu	37	11	48328317	48328317	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:48328317C>T	uc010rhu.2	+	0	543	c.543C>T	c.(541-543)ccC>ccT	p.P181P		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181T(1)|p.P181L(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						ATGTTCATCCCCTGCTCAAGT	0.483000														55			14		0	0	0.000219431	0	0
DNAJB12	54788	broad.mit.edu	37	10	74114714	74114714	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:74114714A>C	uc001jsz.2	-	0	194	c.44T>G	c.(43-45)gTg>gGg	p.V15G	DNAJB12_uc001jta.2_Missense_Mutation_p.V15G|DNAJB12_uc010qjv.1_Missense_Mutation_p.V15G	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 12 (DNAJB12), transcript variant 2, mRNA.	0					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding	p.I14I(1)		endometrium(1)|large_intestine(2)|skin(1)	4						GGGCTGCGCCACCCGCCGGCG	0.662000														11			8		0	0	0.000219431	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62850750	62850750	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:62850750G>A	uc002jey.2	-	13	5488	c.4872C>T	c.(4870-4872)gcC>gcT	p.A1624A	LRRC37A3_uc010wqg.1_Silent_p.A742A|LRRC37A3_uc002jex.1_Silent_p.A601A|LRRC37A3_uc010wqf.1_Silent_p.A662A	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1624						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCTCCGTTGGGGCTTCGCTGT	0.488000														132			7		0	0	2.17888e-05	0	0
LYRM1	57149	broad.mit.edu	37	16	20926983	20926983	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:20926983G>A	uc010bwj.3	+	1	407	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	LYRM1_uc010bwi.1_Non-coding_Transcript|LYRM1_uc010bwk.3_Intron|LYRM1_uc002dia.4_Missense_Mutation_p.E36K|LYRM1_uc010bwl.3_Missense_Mutation_p.E36K|LYRM1_uc010bwm.3_Intron|LYRM1_uc002dib.3_Missense_Mutation_p.E36K	NM_020424	NP_065157	O43325	LYRM1_HUMAN	Homo sapiens LYR motif containing 1 (LYRM1), transcript variant 1, mRNA.	36						nucleus				large_intestine(1)|prostate(1)	2						CACCATCAAAGAAAAACAGTA	0.473000														90			6		0	0	3.59834e-05	0	0
CYP2C19	1557	broad.mit.edu	37	10	96522588	96522588	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:96522588C>T	uc010qnz.2	+	0	126	c.126C>T	c.(124-126)atC>atT	p.I42I	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	42					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTGGAAATATCCTACAGATAG	0.418000														63			7		0	0	0.000157383	0	0
MKX	283078	broad.mit.edu	37	10	28023489	28023489	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:28023489G>C	uc001ity.4	-	4	959	c.734C>G	c.(733-735)aCa>aGa	p.T245R	MKX_uc001itx.4_Missense_Mutation_p.T245R	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	245					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TCTTTGCCTTGTTTTTCCCAT	0.443000														101			7		0	0	0.000274275	0	0
MST1R	4486	broad.mit.edu	37	3	49932642	49932643	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:49932642_49932643GG>TT	uc003cxy.4	-	13	3492_3493	c.3228_3229CC>AA	c.(3226-3231)ccccat>ccAAat	p.H1077N	MST1R_uc011bdc.2_Missense_Mutation_p.H1028N	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	1077					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ACCCGCTCATGGGGAATCAGCA	0.579000														256			8		0	0	6.4e-05	0	0
KIAA1958	158405	broad.mit.edu	37	9	115336746	115336746	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr9:115336746C>T	uc011lwx.1	+	1	561	c.386C>T	c.(385-387)tCt>tTt	p.S129F	KIAA1958_uc004bgf.1_Missense_Mutation_p.S129F	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	129										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGTGAGCCCTCTGAACTGGAT	0.458000														63			11		0	0	0.00010058	0	0
MNAT1	4331	broad.mit.edu	37	14	61201633	61201633	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:61201633C>T	uc001xfd.3	+	0	175	c.53C>T	c.(52-54)tCc>tTc	p.S18F	MNAT1_uc010apq.2_Missense_Mutation_p.S18F|MNAT1_uc001xfe.3_Missense_Mutation_p.S18F	NM_002431	NP_002422	P51948	MAT1_HUMAN	Homo sapiens menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis) (MNAT1), transcript variant 1, mRNA.	18					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		CGGAACCCCTCCTTGAAGCTG	0.602000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)						84			5		0	0	3.59834e-05	0	0
PRMT2	3275	broad.mit.edu	37	21	48064250	48064250	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr21:48064250C>T	uc002zjx.3	+	4	511	c.177C>T	c.(175-177)atC>atT	p.I59I	PRMT2_uc021wkc.1_Silent_p.I59I|PRMT2_uc002zjw.3_Silent_p.I59I|PRMT2_uc002zjy.3_Silent_p.I59I|PRMT2_uc010gqm.3_Silent_p.I59I|PRMT2_uc011aga.2_Silent_p.I59I|PRMT2_uc011agb.2_Silent_p.I59I|PRMT2_uc011agc.2_Silent_p.I59I|PRMT2_uc002zjz.1_5'UTR	NM_206962	NP_996845	P55345	ANM2_HUMAN	Homo sapiens protein arginine methyltransferase 2 (PRMT2), transcript variant 1, mRNA.	59	SH3.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		AAATTCTTATCCTGAGACAAA	0.443000														45			12		0	0	0.000219431	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506290	178506290	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:178506290C>T	uc003mju.3	+	4	972	c.857C>T	c.(856-858)aCc>aTc	p.T286I		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AACAGTTCAACCCTTATCAAA	0.423000														87			8		0	0	0.000157383	0	0
TBXAS1	6916	broad.mit.edu	37	7	139657492	139657492	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:139657492G>A	uc011kqv.2	+	8	1124	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	TBXAS1_uc003vvh.3_Missense_Mutation_p.E251K|TBXAS1_uc010lne.3_Missense_Mutation_p.E183K|TBXAS1_uc011kqu.2_Missense_Mutation_p.E202K|TBXAS1_uc003vvi.3_Missense_Mutation_p.E251K|TBXAS1_uc011kqw.2_Missense_Mutation_p.E231K|TBXAS1_uc003vvj.3_Missense_Mutation_p.E251K	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	250					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GAACCGAGACGAACTGAATGG	0.438000														66			17		0	0	9.7654e-05	0	0
MYH1	4619	broad.mit.edu	37	17	10404762	10404762	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:10404762T>C	uc002gmo.3	-	26	3497	c.3403A>G	c.(3403-3405)Aaa>Gaa	p.K1135E	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1135						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCTCTGCTTTGGCCCGGGAG	0.572000														45			6		0	0	3.59834e-05	0	0
ALS2	57679	broad.mit.edu	37	2	202588100	202588101	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:202588100_202588101GG>TT	uc002uyo.3	-	21	3932_3933	c.3576_3577CC>AA	c.(3574-3579)acccag>acAAag	p.Q1193K	ALS2_uc002uyp.4_Missense_Mutation_p.Q1193K|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	1193					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AATCCAAACTGGGTAACCACCA	0.381000														148			7		0	0	6.4e-05	0	0
PHGDH	26227	broad.mit.edu	37	1	120277263	120277264	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:120277263_120277264GG>TT	uc001ehz.3	+	5	744_745	c.517_518GG>TT	c.(517-519)ggg>TTg	p.G173L	PHGDH_uc009whl.3_Missense_Mutation_p.G75L|PHGDH_uc009whm.3_Missense_Mutation_p.G71L|PHGDH_uc001eib.3_Missense_Mutation_p.G139L	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	173					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CCAGACTATAGGGTATGACCCC	0.446000														385			10		0	0	6.4e-05	0	0
SOAT1	6646	broad.mit.edu	37	1	179310230	179310230	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:179310230T>C	uc001gml.3	+	6	796	c.565T>C	c.(565-567)Tgg>Cgg	p.W189R	SOAT1_uc010pni.2_Missense_Mutation_p.W124R|SOAT1_uc001gmm.3_Missense_Mutation_p.W131R|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Missense_Mutation_p.W124R	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	189					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTGGACCTGGTGGATCATGTT	0.448000														77			15		0	0	0.000219431	0	0
NCAPD3	23310	broad.mit.edu	37	11	134076553	134076553	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:134076553G>A	uc001qhd.1	-	7	1563	c.957C>T	c.(955-957)gcC>gcT	p.A319A	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	319					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CAGCAAGGGGGGCACGATGGG	0.423000														81			18		0	0	7.07596e-05	0	0
ZMYM6	9204	broad.mit.edu	37	1	35452992	35452992	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:35452992C>T	uc001byh.3	-	15	3919	c.3691G>A	c.(3691-3693)Gaa>Aaa	p.E1231K	LOC653160_uc001byd.4_5'Flank|ZMYM6NB_uc001bye.3_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc021olg.1_Missense_Mutation_p.E544K|ZMYM6_uc010oht.2_Missense_Mutation_p.E1134K	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	1231					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTTTCTTCTTCGAAGTCGGTG	0.353000														67			18		0	0	9.7654e-05	0	0
IQCG	84223	broad.mit.edu	37	3	197670848	197670848	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:197670848G>A	uc003fyo.3	-	2	229	c.83C>T	c.(82-84)cCa>cTa	p.P28L	IQCG_uc003fyp.3_Missense_Mutation_p.P28L|IQCG_uc003fyq.4_Missense_Mutation_p.P28L	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	28										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GGTACTAGGTGGTTCGCCTGT	0.433000														147			31		0	0	0.000279167	0	0
RBM12	10137	broad.mit.edu	37	20	34241050	34241050	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:34241050G>A	uc021wcr.1	-	0	2195	c.2195C>T	c.(2194-2196)gCc>gTc	p.A732V	CPNE1_uc010zvj.2_Intron|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.A732V|RBM12_uc002xds.3_Missense_Mutation_p.A732V|RBM12_uc002xdr.3_Missense_Mutation_p.A732V|RBM12_uc021wcq.1_Missense_Mutation_p.A732V	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	732	Gly-rich.|Pro-rich.					nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TGGCCCAAAGGCATTTGATCC	0.507000														122			22		0	0	0.000375601	0	0
TTN	7273	broad.mit.edu	37	2	179577951	179577951	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:179577951C>T	uc021vsy.1	-	89	23403	c.23178G>A	c.(23176-23178)agG>agA	p.R7726R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.R4387R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8653	Ig-like 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGTATTTCCTTCCACTAC	0.438000														23			9		0	0	0.000274275	0	0
NBEAL1	65065	broad.mit.edu	37	2	204037503	204037504	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:204037503_204037504CC>AA	uc002uzt.3	+	39	6496_6497	c.6163_6164CC>AA	c.(6163-6165)cct>AAt	p.P2055N	NBEAL1_uc021vvj.1_Missense_Mutation_p.P758N	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2055	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCTTAATAACCCTGCTGTATTT	0.342000														457			11		0	0	6.4e-05	0	0
HHLA3	11147	broad.mit.edu	37	1	70832184	70832184	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:70832184T>C	uc001dfc.3	+	1	360	c.218T>C	c.(217-219)cTt>cCt	p.L73P	HHLA3_uc010oqp.2_Non-coding_Transcript|HHLA3_uc001dfb.3_Silent_p.L72L|HHLA3_uc001dfa.3_Silent_p.S105S	NM_001031693	NP_001026863	Q9XRX5	HHLA3_HUMAN	Homo sapiens HERV-H LTR-associating 3 (HHLA3), transcript variant 1, mRNA.	0							protein binding			large_intestine(3)|lung(1)	4						cttggatctcttgcaagaaag	0.383000														12			3		0	0	6.4e-05	0	0
PLCL1	5334	broad.mit.edu	37	2	198949115	198949115	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:198949115G>A	uc010fsp.3	+	1	1272	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	PLCL1_uc002uuv.4_Missense_Mutation_p.E213K	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	292					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.D292H(1)|p.F291C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAAGAGCAAGGAAAAACTAAC	0.393000														63			23		0	0	7.16444e-05	0	0
KCTD5	54442	broad.mit.edu	37	16	2732753	2732753	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:2732753C>T	uc002crd.3	+	0	259	c.204C>T	c.(202-204)tcC>tcT	p.S68S		NM_018992	NP_061865	Q9NXV2	KCTD5_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 5 (KCTD5), mRNA.	68	BTB.				interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						ACCCGAAATCCTTCCTGTACC	0.682000														68			5		0	0	3.59834e-05	0	0
RNF6	6049	broad.mit.edu	37	13	26789559	26789559	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr13:26789559G>A	uc001uqo.3	-	4	805	c.460C>T	c.(460-462)Cac>Tac	p.H154Y	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Missense_Mutation_p.H154Y|RNF6_uc001uqq.3_Missense_Mutation_p.H154Y|RNF6_uc010tdk.2_Intron	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	154					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TGATTTACGTGGATTTCCAAA	0.388000														91			24		0	0	7.16444e-05	0	0
RP1	6101	broad.mit.edu	37	8	55537765	55537765	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:55537765A>C	uc003xsd.1	+	3	1471	c.1323A>C	c.(1321-1323)caA>caC	p.Q441H	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	441					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTCAAGACCAAGCAAAGCATC	0.433000														85			19		0	0	0.000175454	0	0
EPG5	57724	broad.mit.edu	37	18	43535055	43535055	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:43535055C>T	uc002lbm.3	-	1	413	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	EPG5_uc002lbo.1_Missense_Mutation_p.E105K	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	105					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCTCCCCCTTCCTTTGGGGGC	0.498000														59			15		0	0	0.000422831	0	0
ANTXR1	84168	broad.mit.edu	37	2	69271912	69271912	+	Missense_Mutation	SNP	G	A	A	rs141240644	byFrequency	TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:69271912G>A	uc002sfg.3	+	2	619	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	ANTXR1_uc002sfe.3_Missense_Mutation_p.R88Q|ANTXR1_uc002sff.3_Missense_Mutation_p.R88Q|ANTXR1_uc002sfd.2_Missense_Mutation_p.R88Q	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	88	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.R88R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTCCACCCGAGGAACAACC	0.433000									Familial Infantile Hemangioma					74			8		0	0	0.000274275	0	0
ZNF347	84671	broad.mit.edu	37	19	53644814	53644814	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:53644814G>T	uc002qbc.2	-	4	1697	c.1270C>A	c.(1270-1272)Cac>Aac	p.H424N	ZNF347_uc002qbb.2_Missense_Mutation_p.H423N|ZNF347_uc010eql.2_Missense_Mutation_p.H424N	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCTCCAGTGTGAATTCTCCAG	0.428000														129			9		4.68919e-08	1.27339e-06	3.86212e-05	1	0
PAK4	10298	broad.mit.edu	37	19	39667342	39667342	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:39667342C>T	uc002okj.1	+	8	1933	c.1472C>T	c.(1471-1473)cCc>cTc	p.P491L	PAK4_uc002okl.1_Missense_Mutation_p.P491L|PAK4_uc002okn.1_Missense_Mutation_p.P491L|PAK4_uc002okm.1_Missense_Mutation_p.P338L|PAK4_uc002oko.1_Missense_Mutation_p.P338L|PAK4_uc002okp.1_Missense_Mutation_p.P401L	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	491	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			TCCCGCCTTCCCTACGGGCCA	0.667000														80			7		0	0	0.000157383	0	0
VPS13D	55187	broad.mit.edu	37	1	12339581	12339581	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:12339581C>T	uc001atv.3	+	19	4617	c.4476C>T	c.(4474-4476)acC>acT	p.T1492T	VPS13D_uc001atw.3_Silent_p.T1492T|VPS13D_uc001atx.3_Silent_p.T680T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1492					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACAACACCACCATTCAGTTTA	0.363000														50			11		0	0	6.40141e-05	0	0
GDF5	8200	broad.mit.edu	37	20	34022051	34022052	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:34022051_34022052GG>AA	uc010gfc.1	-	1	1402_1403	c.1161_1162CC>TT	c.(1159-1164)cgccag>cgTTag	p.Q388*	GDF5OS_uc002xcj.3_Missense_Mutation_p.A155T|GDF5_uc002xck.1_Nonsense_Mutation_p.Q388*	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	388					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.R387H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CGCTTGCCCTGGCGAGTGGCCA	0.584000														174			17		0	0	6.4e-05	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176125	140176125	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:140176125G>A	uc003lhd.2	+	0	1682	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E526K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E526K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	540	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACCACGAGGAAGTGGA	0.687000														97			6		0	0	8.12818e-05	0	0
VPS13D	55187	broad.mit.edu	37	1	12336754	12336754	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:12336754G>A	uc001atv.3	+	18	3250	c.3109G>A	c.(3109-3111)Gat>Aat	p.D1037N	VPS13D_uc001atw.3_Missense_Mutation_p.D1037N|VPS13D_uc001atx.3_Missense_Mutation_p.D225N	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1037					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGCCTTCGGGATAGCAGGGC	0.488000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			8		0	0	0.000274275	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94337640	94337641	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:94337640_94337641GG>TT	uc001dqf.3	-	4	2112_2113	c.2054_2055CC>AA	c.(2053-2055)ccc>cAA	p.P685Q	DNTTIP2_uc010otm.2_Non-coding_Transcript	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 2 (DNTTIP2), mRNA.	685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GGAAGTACTTGGGGAAGCCATC	0.366000														373			9		0	0	6.4e-05	0	0
PSG8	440533	broad.mit.edu	37	19	43259419	43259419	+	Splice_Site	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:43259419C>T	uc002ouo.2	-	4	808	c.710_splice	c.e4-1	p.P237_splice	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Splice_Site_p.P237_splice|PSG8_uc010ein.3_Splice_Site_p.P115_splice|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	237						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGCAGCTTCGCTGTGTGGATA	0.483000														178			35		0	0	8.96297e-05	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895338	42895338	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:42895338C>T	uc003gwt.3	+	0	56	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	19					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AGTCCGGTTTCGGATCGCGTC	0.512000														78			9		0	0	2.17888e-05	0	0
PSD2	84249	broad.mit.edu	37	5	139216804	139216804	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:139216804C>T	uc003leu.1	+	10	1851	c.1646C>T	c.(1645-1647)aCc>aTc	p.T549I		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	549	PH.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAAAGGGACCATCCTGTAC	0.627000														77			6		0	0	8.12818e-05	0	0
ZNF532	55205	broad.mit.edu	37	18	56648784	56648784	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:56648784C>T	uc010xeg.2	+	8	3543	c.3346C>T	c.(3346-3348)Cct>Tct	p.P1116S	ZNF532_uc002lhp.3_Missense_Mutation_p.P1114S|ZNF532_uc002lho.3_Missense_Mutation_p.P1116S|ZNF532_uc002lhr.3_Missense_Mutation_p.P1114S|ZNF532_uc002lhs.3_Missense_Mutation_p.P1114S|ZNF532_uc010xeh.2_Missense_Mutation_p.P204S	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	1116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CATCAAGGACCCTGACCTGAA	0.463000														70			16		0	0	0.000308642	0	0
PPP4R1	9989	broad.mit.edu	37	18	9570421	9570421	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:9570421G>T	uc002koe.1	-	10	1425	c.1307C>A	c.(1306-1308)cCa>cAa	p.P436Q	PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Missense_Mutation_p.P282Q|PPP4R1_uc002kod.1_Missense_Mutation_p.P419Q|PPP4R1_uc010wzp.1_Non-coding_Transcript	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.	436					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GCCAACCTCTGGTCGTAACAT	0.408000														100			22		4.26978e-12	1.17167e-10	5.49717e-05	1	0
TULP4	56995	broad.mit.edu	37	6	158923497	158923497	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:158923497C>T	uc003qrf.3	+	12	4159	c.2802C>T	c.(2800-2802)gtC>gtT	p.V934V	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	934					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGAAGAAGGTCCCTCAGCCCT	0.677000														51			9		0	0	2.17888e-05	0	0
AADACL4	343066	broad.mit.edu	37	1	12726223	12726223	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:12726223C>T	uc001auf.3	+	3	701	c.701C>T	c.(700-702)tCc>tTc	p.S234F		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	234						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CAGTTGCCATCCTTTCAGCAG	0.522000														162			16		0	0	0.000175454	0	0
DENND2A	27147	broad.mit.edu	37	7	140301361	140301361	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:140301361C>T	uc010lnk.3	-	2	1357	c.837G>A	c.(835-837)ggG>ggA	p.G279G	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.G279G|DENND2A_uc003vvw.3_Silent_p.G279G|DENND2A_uc003vvx.3_Silent_p.G279G	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	279										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CATCTTTGTCCCCTTCTCCGG	0.582000														135			42		0	0	0.000147903	0	0
ACTC1	70	broad.mit.edu	37	15	35083487	35083487	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr15:35083487G>A	uc001ziu.1	-	5	1061	c.818C>T	c.(817-819)tCt>tTt	p.S273F	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	273					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GATGCCAGCAGATTCCATACC	0.468000														82			12		0	0	6.40141e-05	0	0
OR2A5	393046	broad.mit.edu	37	7	143747706	143747706	+	Missense_Mutation	SNP	C	T	T	rs149614119	by1000genomes	TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:143747706C>T	uc011ktw.2	+	0	212	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S71L(2)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATTGATATTTCGTATGCTTCC	0.483000														65			22		0	0	0.000229342	0	0
CIITA	4261	broad.mit.edu	37	16	11000685	11000685	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:11000685G>A	uc002daj.4	+	10	1472	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N	CIITA_uc002dai.4_Missense_Mutation_p.D446N|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Missense_Mutation_p.D446N|CIITA_uc002dah.2_Missense_Mutation_p.D398N|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	446	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCCCCAGTACGACTTTGTCTT	0.627000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									81			19		0	0	7.07596e-05	0	0
ESYT3	83850	broad.mit.edu	37	3	138191502	138191503	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:138191502_138191503GG>TT	uc003esk.3	+	17	2264_2265	c.2038_2039GG>TT	c.(2038-2040)ggg>TTg	p.G680L	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	680						integral to membrane|plasma membrane		p.G680R(2)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TGAGCCCATCGGGGAGAAGAAG	0.594000														296			10		0	0	6.4e-05	0	0
CRHBP	1393	broad.mit.edu	37	5	76254644	76254645	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:76254644_76254645CC>AA	uc003ker.3	+	4	903_904	c.623_624CC>AA	c.(622-624)tcc>tAA	p.S208*	CRHBP_uc010izx.3_Nonsense_Mutation_p.S208*	NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	208					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TGCAGCTTCTCCATAATTTATC	0.396000														613			12		0	0	6.4e-05	0	0
JAG1	182	broad.mit.edu	37	20	10639139	10639139	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:10639139C>T	uc002wnw.2	-	3	1187	c.671G>A	c.(670-672)tGg>tAg	p.W224*		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	224	DSL.		W -> C (in ALGS1).		Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGGGCCCATCCAGCCTTCCAT	0.507000									Alagille Syndrome					84			13		0	0	0.000219431	0	0
DNAH11	8701	broad.mit.edu	37	7	21745129	21745129	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:21745129G>A	uc003svc.3	+	39	6572	c.6541G>A	c.(6541-6543)Gga>Aga	p.G2181R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2181	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTTTGTAGTTGGAAATGCAGG	0.448000									Kartagener syndrome					58			9		0	0	3.86212e-05	0	0
ITGA2B	3674	broad.mit.edu	37	17	42458255	42458256	+	Nonsense_Mutation	DNP	CC	TA	TA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:42458255_42458256CC>TA	uc002igt.1	-	12	1416_1417	c.1384_1385GG>TA	c.(1384-1386)gga>TAa	p.G462*	ITGA2B_uc002igu.1_5'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	462					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	ACCTGGGTATCCGTTGTCATCG	0.614000														104			11		0	0	6.4e-05	0	0
MFSD7	84179	broad.mit.edu	37	4	680340	680340	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:680340G>A	uc003gay.3	-	1	332	c.275C>T	c.(274-276)tCc>tTc	p.S92F	MFSD7_uc003gaw.3_5'Flank|MFSD7_uc003gax.3_Missense_Mutation_p.S92F|MFSD7_uc003gaz.3_Missense_Mutation_p.S70F	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	92					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GAGCCCGACGGAGTCCAGGAT	0.647000														43			19		0	0	0.000132079	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994463	45994464	+	Nonsense_Mutation	DNP	CA	AG	AG			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr21:45994463_45994464CA>AG	uc002zfk.1	+	0	858_859	c.828_829CA>AG	c.(826-831)tgcaag>tgAGag	p.276_277CK>*E	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	276	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CTGTCTGCTGCAAGCCTGTGTG	0.624000														78			11		0	0	6.4e-05	0	0
KSR2	283455	broad.mit.edu	37	12	117964911	117964911	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:117964911G>A	uc001two.2	-	12	1784	c.1729C>T	c.(1729-1731)Cca>Tca	p.P577S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	606					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAAGTAATGGATTTCCTTCC	0.438000														181			33		0	0	0.000228196	0	0
PRB4	5545	broad.mit.edu	37	12	11461723	11461723	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:11461723C>T	uc001qzf.1	-	2	228	c.194G>A	c.(193-195)gGa>gAa	p.G65E	PRB4_uc001qzt.3_Missense_Mutation_p.G65E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	65	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTTCCTCCTTGTGG	0.622000										HNSCC(22;0.051)				229			17		0	0	9.7654e-05	0	0
TTLL7	79739	broad.mit.edu	37	1	84408284	84408284	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:84408284G>A	uc001djc.3	-	6	981	c.585C>T	c.(583-585)ttC>ttT	p.F195F	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Intron|TTLL7_uc001djf.3_Intron|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	195	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CTTCCATTAGGAAAGGCTTTT	0.328000														55			8		0	0	0.000274275	0	0
SBNO1	55206	broad.mit.edu	37	12	123810134	123810134	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:123810134C>A	uc010tap.2	-	13	1888	c.1888G>T	c.(1888-1890)Ggt>Tgt	p.G630C	SBNO1_uc010tao.2_Missense_Mutation_p.G629C|SBNO1_uc010taq.2_Intron|SBNO1_uc001ueu.2_Missense_Mutation_p.G629C|SBNO1_uc001uet.2_Missense_Mutation_p.G630C|SBNO1_uc001uev.2_Missense_Mutation_p.G628C|SBNO1_uc009zxy.1_Missense_Mutation_p.G595C	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	630							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GACTGCAGACCAATTACAACA	0.343000														291			9		0.00010058	0.00267573	0.00010058	1	0
SCN10A	6336	broad.mit.edu	37	3	38805058	38805058	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:38805058C>T	uc003ciq.3	-	4	629	c.629G>A	c.(628-630)gGg>gAg	p.G210E		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	210					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	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)	GCCTGAGATCCCACGGAGATC	0.453000														85			5		0	0	1.23904e-05	0	0
C1orf172	126695	broad.mit.edu	37	1	27278365	27278365	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:27278365G>A	uc001bni.2	-	1	600	c.507C>T	c.(505-507)atC>atT	p.I169I	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	169										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GATACACAGGGATGCCTTTGA	0.657000														51			6		0	0	8.12818e-05	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33956858	33956858	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:33956858T>A	uc001bxj.4	+	5	1167	c.1000T>A	c.(1000-1002)Ttc>Atc	p.F334I	ZSCAN20_uc001bxk.2_Missense_Mutation_p.F280I|ZSCAN20_uc009vui.3_Missense_Mutation_p.F334I	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	334					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T333N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GACCAAGACTTTCCTGGCAAT	0.522000														81			7		0	0	8.12818e-05	0	0
LRP6	4040	broad.mit.edu	37	12	12317469	12317470	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:12317469_12317470CC>AA	uc001rah.4	-	8	1931_1932	c.1789_1790GG>TT	c.(1789-1791)ggg>TTg	p.G597L	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.G597L	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	597	EGF-like 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity	p.G597W(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GCTACATCCCCCGTTTTCCTCA	0.441000														337			11		0	0	6.4e-05	0	0
TRIM25	7706	broad.mit.edu	37	17	54978892	54978893	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:54978892_54978893GG>TT	uc002iut.3	-	3	1034_1035	c.974_975CC>AA	c.(973-975)ccc>cAA	p.P325Q	TRIM25_uc010dcj.3_Missense_Mutation_p.P117Q	NM_005082	NP_005073	Q14258	TRI25_HUMAN	Homo sapiens tripartite motif containing 25 (TRIM25), mRNA.	325	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	p.P325H(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GTTCCACCTCGGGGATGTAGAC	0.550000														345			14		0	0	6.4e-05	0	0
APOB	338	broad.mit.edu	37	2	21233505	21233505	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:21233505C>T	uc002red.3	-	25	6363	c.6235G>A	c.(6235-6237)Gaa>Aaa	p.E2079K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2079	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAAAATATTCTTGCAAGGTC	0.343000														556			53		0	0	0.000147903	0	0
AVPR1B	553	broad.mit.edu	37	1	206225076	206225076	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:206225076G>A	uc001hds.2	+	0	794	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	212					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTCTGCCGGTGACCATGCTCA	0.617000														67			14		0	0	0.000308642	0	0
LRP2	4036	broad.mit.edu	37	2	170009450	170009450	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:170009450C>T	uc002ues.3	-	66	12533	c.12320G>A	c.(12319-12321)gGg>gAg	p.G4107E		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4107					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGAGCCCTCCCCTCGCACAGT	0.468000														126			34		0	0	0.000109025	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208960	140208960	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:140208960G>A	uc003lho.2	+	0	1311	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Silent_p.R428R|PCDHAC2_uc011dab.2_Silent_p.R428R	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	442	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACCGCGCGGGACGGGGGCT	0.622000														146			9		0	0	2.17888e-05	0	0
PXDNL	137902	broad.mit.edu	37	8	52320686	52320686	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:52320686C>T	uc003xqu.4	-	16	3599	c.3498G>A	c.(3496-3498)aaG>aaA	p.K1166K	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1166					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCTCAAAGTTCTTAACTGAAG	0.398000														79			11		0	0	3.86212e-05	0	0
C20orf151	140893	broad.mit.edu	37	20	60989120	60989120	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:60989120C>T	uc002ycw.2	-	9	1484	c.1287G>A	c.(1285-1287)gaG>gaA	p.E429E		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	429										large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			TGGCTGCAGCCTCTGTCCTCT	0.726000														8			3		0	0	0.00024832	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554096	140554096	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:140554096C>T	uc003lit.3	+	0	1854	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	560	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P559H(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGCTGTACC	0.726000														55			7		0	0	8.12818e-05	0	0
NEK10	152110	broad.mit.edu	37	3	27173431	27173431	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:27173431G>A	uc010hfk.3	-	12	1357	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	NEK10_uc010hfj.3_Silent_p.F319F			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	1064							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGGATTTCTTGAATCTCTCTA	0.323000														81			6		0	0	8.12818e-05	0	0
LETM2	137994	broad.mit.edu	37	8	38264880	38264880	+	Splice_Site	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:38264880G>A	uc003xlm.2	+	10	1403	c.1171_splice	c.e10-1	p.D391_splice	LETM2_uc003xll.2_Splice_Site_p.D343_splice|LETM2_uc003xln.2_Splice_Site_p.D235_splice|LETM2_uc003xlo.2_Splice_Site_p.D235_splice	NM_001199659	NP_001186588	Q2VYF4	LETM2_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 2 (LETM2), transcript variant 1, mRNA.	438						integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GATGTTTAAGGATGAAGACTT	0.398000														60			5		0	0	1.23904e-05	0	0
ADAM22	53616	broad.mit.edu	37	7	87759752	87759752	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:87759752C>T	uc003ujn.3	+	9	1018	c.803C>T	c.(802-804)tCt>tTt	p.S268F	ADAM22_uc003ujj.2_Missense_Mutation_p.S268F|ADAM22_uc003ujk.2_Missense_Mutation_p.S268F|ADAM22_uc003ujl.2_Missense_Mutation_p.S268F|ADAM22_uc003ujm.3_Missense_Mutation_p.S268F|ADAM22_uc003ujo.3_Missense_Mutation_p.S268F|ADAM22_uc003ujp.1_Missense_Mutation_p.S320F	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	268	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TATGCGAAATCTGTGGTGAAC	0.348000														99			5		0	0	3.59834e-05	0	0
CYP2C8	1558	broad.mit.edu	37	10	96829127	96829127	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:96829127G>A	uc001kkb.3	-	0	128	c.33C>T	c.(31-33)ctC>ctT	p.L11L	CYP2C8_uc010qoa.2_5'UTR|CYP2C8_uc010qoc.2_5'UTR|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_5'UTR|CYP2C8_uc021pwl.1_5'UTR|CYP2C8_uc010qod.1_5'UTR	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	11					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GCATAAAAGAGAGACACAGCA	0.453000														45			5		0	0	1.23904e-05	0	0
PCLO	27445	broad.mit.edu	37	7	82582495	82582495	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:82582495G>T	uc003uhx.2	-	4	8063	c.7774C>A	c.(7774-7776)Cca>Aca	p.P2592T	PCLO_uc003uhv.2_Missense_Mutation_p.P2592T|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2523					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAATCTGTTGGAGTCCCTGGT	0.453000														195			12		1.36491e-13	3.7553e-12	0.000151284	1	0
FAM19A2	338811	broad.mit.edu	37	12	62147450	62147450	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:62147450G>A	uc001sqw.3	-	3	1919	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	FAM19A2_uc001sqv.3_Non-coding_Transcript|FAM19A2_uc001sqx.3_Missense_Mutation_p.R113W|FAM19A2_uc001sqy.3_Non-coding_Transcript	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.	113						cytoplasm		p.R113W(2)|p.D112Y(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CATCCTTTCCGATCCGGAAGA	0.408000														73			7		0	0	8.12818e-05	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148930447	148930448	+	Missense_Mutation	DNP	GG	AA	AA	rs112881076	by1000genomes	TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:148930447_148930448GG>AA	uc003lqw.1	-	0	560_561	c.80_81CC>TT	c.(79-81)tcc>tTT	p.S27F	CSNK1A1_uc011dcc.2_5'Flank|CSNK1A1_uc003lqx.1_Missense_Mutation_p.S27F|CSNK1A1_uc003lqy.1_Missense_Mutation_p.S27F|CSNK1A1_uc010jha.1_Missense_Mutation_p.S27F	NM_001025105	NP_001020276	P48729	KC1A_HUMAN	Homo sapiens casein kinase 1, alpha 1 (CSNK1A1), transcript variant 1, mRNA.	27	Protein kinase.				Wnt receptor signaling pathway|cell division|mitosis	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TGTCCCCGAAGGAGCCAGACCC	0.535000														56			13		0	0	6.4e-05	0	0
PDE6G	5148	broad.mit.edu	37	17	79618115	79618115	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:79618115C>T	uc002kay.3	-	3	397	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	PDE6G_uc002kaz.3_Non-coding_Transcript	NM_002602	NP_002593	P18545	CNRG_HUMAN	Homo sapiens phosphodiesterase 6G, cGMP-specific, rod, gamma (PDE6G), transcript variant 1, mRNA.	85					platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TAGATGATGCCATATTGGGCC	0.592000														73			6		0	0	3.59834e-05	0	0
AMBRA1	55626	broad.mit.edu	37	11	46569818	46569819	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:46569818_46569819CG>AT	uc001ncv.2	-	1	426_427	c.112_113CG>AT	c.(112-114)cgg>ATg	p.R38M	AMBRA1_uc009ylc.1_Missense_Mutation_p.R38M|AMBRA1_uc001ncu.1_Missense_Mutation_p.R38M|AMBRA1_uc010rgu.1_Missense_Mutation_p.R38M|AMBRA1_uc001ncw.2_Missense_Mutation_p.R38M|AMBRA1_uc001ncx.2_Missense_Mutation_p.R38M	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	38					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		p.R38Q(3)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TTTCATCCACCGGGTTTTATCT	0.515000														330			8		0	0	6.4e-05	0	0
SKIV2L	6499	broad.mit.edu	37	6	31937189	31937189	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:31937189C>T	uc003nyn.1	+	26	3921	c.3532C>T	c.(3532-3534)Cgg>Tgg	p.R1178W	SKIV2L_uc011dou.1_Missense_Mutation_p.R1020W|SKIV2L_uc011dov.1_Missense_Mutation_p.R985W|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	1178						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding	p.R1178W(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGAGTGGGCCCGGGGCATGGT	0.577000														268			63		0	0	0.000147903	0	0
NSUN3	63899	broad.mit.edu	37	3	93781856	93781856	+	Splice_Site	SNP	A	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:93781856A>C	uc003drl.1	+	1	1	c.-115_splice	c.e1-1		DHFRL1_uc003dri.3_5'Flank|DHFRL1_uc003drj.3_5'UTR|DHFRL1_uc021xbk.1_5'Flank|NSUN3_uc003drk.3_Splice_Site	NM_022072	NP_071355	Q9H649	NSUN3_HUMAN	Homo sapiens NOP2/Sun domain family, member 3 (NSUN3), mRNA.								methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						AGGAAACGTGAGAATGAAAGT	0.473000														22			3		0	0	6.4e-05	0	0
FGFR2	2263	broad.mit.edu	37	10	123239526	123239526	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:123239526C>T	uc021pzz.1	-	17	2958	c.2311G>A	c.(2311-2313)Gac>Aac	p.D771N	FGFR2_uc021pzv.1_Missense_Mutation_p.D659N|FGFR2_uc021pzw.1_Missense_Mutation_p.D656N|FGFR2_uc021pzx.1_Intron|FGFR2_uc021pzy.1_Missense_Mutation_p.D772N|FGFR2_uc010qtl.2_Missense_Mutation_p.D655N|FGFR2_uc010qtm.2_Missense_Mutation_p.D654N|FGFR2_uc001lfg.4_Missense_Mutation_p.D379N|FGFR2_uc001lfk.1_Non-coding_Transcript	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	771					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.L770V(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TGGCTGAGGTCCAAGTATTCC	0.448000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					109			14		0	0	0.000422831	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120938	38120938	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr22:38120938G>A	uc003atr.3	+	6	2646	c.2375G>A	c.(2374-2376)aGa>aAa	p.R792K	TRIOBP_uc003atu.3_Missense_Mutation_p.R620K|TRIOBP_uc003atq.1_Missense_Mutation_p.R792K|TRIOBP_uc003ats.1_Missense_Mutation_p.R620K	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	792					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GACAACCCCAGAACATCCTGT	0.537000														50			6		0	0	3.59834e-05	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548600	20548601	+	Nonsense_Mutation	DNP	CG	AT	AT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:20548600_20548601CG>AT	uc002dhj.4	-	14	1923_1924	c.1713_1714CG>AT	c.(1711-1716)tccgga>tcATga	p.G572*	ACSM2B_uc002dhk.4_Nonsense_Mutation_p.G572*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	572					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.G572V(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CGGGCTTTTCCGGACATCTTCC	0.460000														233			7		0	0	6.4e-05	0	0
ABCB5	340273	broad.mit.edu	37	7	20768024	20768024	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:20768024G>A	uc010kuh.3	+	22	3050	c.2813G>A	c.(2812-2814)cGa>cAa	p.R938Q	ABCB5_uc003suw.4_Missense_Mutation_p.R493Q|ABCB5_uc003sux.1_Missense_Mutation_p.R116Q	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	493					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCAGGGTTTCGATTTGGAGCC	0.433000														105			26		0	0	7.16444e-05	0	0
SMARCA5	8467	broad.mit.edu	37	4	144449755	144449755	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:144449755A>G	uc003ijg.3	+	7	1439	c.977A>G	c.(976-978)gAa>gGa	p.E326G		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	326	Helicase ATP-binding.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					ATAGTGAGGGAATTCAAGACT	0.368000														43			5		0	0	1.23904e-05	0	0
LRFN5	145581	broad.mit.edu	37	14	42357007	42357007	+	Silent	SNP	T	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:42357007T>A	uc001wvm.3	+	2	2377	c.1179T>A	c.(1177-1179)ggT>ggA	p.G393G	LRFN5_uc010ana.3_Silent_p.G393G	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	393						integral to membrane		p.P392A(1)|p.P392H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGATCCTGGTTCTTCAGATA	0.388000										HNSCC(30;0.082)				69			20		0	0	0.000229342	0	0
PRC1	9055	broad.mit.edu	37	15	91525133	91525134	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr15:91525133_91525134CC>AA	uc002bqm.3	-	3	502_503	c.345_346GG>TT	c.(343-348)aaggag>aaTTag	p.115_116KE>N*	PRC1_uc002bqn.3_Nonsense_Mutation_p.115_116KE>N*|PRC1_uc002bqo.3_Nonsense_Mutation_p.115_116KE>N*|PRC1_uc010uqs.2_Nonsense_Mutation_p.74_75KE>N*|PRC1_uc010uqt.1_Nonsense_Mutation_p.63_64KE>N*	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	115	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TGTTTTCTCTCCTTTTTCTGTT	0.436000														752			14		0	0	6.4e-05	0	0
ZNF326	284695	broad.mit.edu	37	1	90473040	90473041	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:90473040_90473041CG>AT	uc001dnq.2	+	4	485_486	c.346_347CG>AT	c.(346-348)cgg>ATg	p.R116M	ZNF326_uc009wda.1_Intron|ZNF326_uc001dnr.2_Intron	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	Homo sapiens zinc finger protein 326 (ZNF326), transcript variant 1, mRNA.	116	Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GAGCTCCTACCGGAATAGCCTT	0.515000														193			6		0	0	6.4e-05	0	0
ALLC	55821	broad.mit.edu	37	2	3743413	3743413	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:3743413C>T	uc010ewt.3	+	7	779	c.618C>T	c.(616-618)gtC>gtT	p.V206V	ALLC_uc002qyf.3_5'UTR	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	225							allantoicase activity	p.G205S(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TTGGGGGTGTCTGTGTAGGAT	0.453000										HNSCC(21;0.051)				35			7		0	0	0.000157383	0	0
CS	1431	broad.mit.edu	37	12	56679756	56679756	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:56679756T>C	uc001sks.1	-	2	335	c.145A>G	c.(145-147)Aag>Gag	p.K49E	CS_uc010sql.1_Missense_Mutation_p.K36E|CS_uc001skr.1_5'UTR|CS_uc001skt.1_Intron|CS_uc010sqm.1_5'UTR	NM_004077	NP_004068	O75390	CISY_HUMAN	Homo sapiens citrate synthase (CS), nuclear gene encoding mitochondrial protein, mRNA.	49					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CTGAAAGTCTTAATTCTGGCC	0.428000														213			33		0	0	0.000159656	0	0
ITGAE	3682	broad.mit.edu	37	17	3638140	3638140	+	Missense_Mutation	SNP	T	C	C	rs34281241		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:3638140T>C	uc002fwo.4	-	20	2725	c.2626A>G	c.(2626-2628)Aga>Gga	p.R876G		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	876					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGCAGGTTTCTGGGGTAATTC	0.532000														143			28		0	0	0.000279167	0	0
IREB2	3658	broad.mit.edu	37	15	78755386	78755386	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr15:78755386G>A	uc002bdr.2	+	2	391	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.3_Missense_Mutation_p.E77K	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	77							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AAGCAATGTTGAAGTGCCCTT	0.363000														204			53		0	0	0.000147903	0	0
FAM222A	84915	broad.mit.edu	37	12	110205859	110205859	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:110205859G>A	uc001tpd.2	+	2	687	c.125G>A	c.(124-126)aGc>aAc	p.S42N	FAM222A-AS1_uc010sxs.2_Intron|FAM222A-AS1_uc001tpe.3_Intron	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	Homo sapiens chromosome 12 open reading frame 34 (C12orf34), mRNA.	42																	CGCTACCCGAGCCCAGCAGAA	0.642000														43			6		0	0	3.59834e-05	0	0
NUP93	9688	broad.mit.edu	37	16	56867143	56867144	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:56867143_56867144GG>AA	uc002eka.3	+	12	1483_1484	c.1362_1363GG>AA	c.(1360-1365)acggtg>acAAtg	p.V455M	NUP93_uc002ekb.3_Missense_Mutation_p.V332M|NUP93_uc010vhi.2_Missense_Mutation_p.V332M	NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	455					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCCACTTTACGGTGAACCAGCA	0.569000														117			6		0	0	6.4e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92087026	92087026	+	Missense_Mutation	SNP	G	T	T	rs75759020		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:92087026G>T	uc001pdj.4	+	0	1765	c.1748G>T	c.(1747-1749)tGc>tTc	p.C583F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	583	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAAGTGGCTTGCCAGGGAGTT	0.428000										TCGA Ovarian(4;0.039)				376			19		2.24893e-16	6.20385e-15	0.000437636	1	0
MFSD4	148808	broad.mit.edu	37	1	205553164	205553164	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:205553164C>T	uc001hcv.4	+	3	858	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	MFSD4_uc010prk.2_Silent_p.L171L|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.L203L	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	258					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCCCCTGCTTCTGTCTGCTGA	0.602000														59			11		0	0	0.000151284	0	0
VANGL2	57216	broad.mit.edu	37	1	160389198	160389198	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:160389198A>G	uc001fwb.2	+	4	898	c.599A>G	c.(598-600)tAt>tGt	p.Y200C	VANGL2_uc001fwc.2_Missense_Mutation_p.Y200C	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	200					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGCTCTTCTATGGTGTGCGC	0.632000														105			26		0	0	0.000227799	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139908431	139908431	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:139908431C>T	uc003lfs.2	+	28	6054	c.5900C>T	c.(5899-5901)cCt>cTt	p.P1967L	ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.P1967L|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.P706L|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.P605L|ANKHD1-EIF4EBP3_uc010jfl.3_Missense_Mutation_p.P402L|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.P104L	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1967						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGTGTGCCTAAGACAAGT	0.502000														131			26		0	0	7.16444e-05	0	0
TBX2	6909	broad.mit.edu	37	17	59485543	59485543	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:59485543C>T	uc010wox.2	+	6	2096	c.1815C>T	c.(1813-1815)tcC>tcT	p.S605S	TBX2_uc002ize.3_3'UTR|TBX2_uc002izg.3_Silent_p.S451S	NM_005994	NP_005985	Q13207	TBX2_HUMAN	Homo sapiens T-box 2 (TBX2), mRNA.	605					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						ccgccgGCTCCCTCTCCCGGA	0.692000														12			5		0	0	0.000157383	0	0
CPEB1	64506	broad.mit.edu	37	15	83221280	83221280	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr15:83221280G>A	uc002bit.3	-	7	1482	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	CPEB1_uc002bir.3_Silent_p.L314L|CPEB1_uc002bis.3_Silent_p.L309L|CPEB1_uc010uod.2_Silent_p.L158L|CPEB1_uc002biq.3_Silent_p.L309L|CPEB1_uc010uoe.2_Silent_p.L387L|CPEB1_uc002biu.3_Silent_p.L411L|CPEB1_uc010uof.2_Silent_p.L309L|CPEB1_uc002biv.3_Silent_p.L384L|CPEB1_uc002bip.3_Silent_p.L158L	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	389	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TATTCACTCAGGCCATCTGGG	0.498000														61			19		0	0	9.7654e-05	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142500670	142500671	+	Nonsense_Mutation	DNP	TC	GT	GT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:142500670_142500671TC>GT	uc011dbj.2	+	17	1691_1692	c.1656_1657TC>GT	c.(1654-1659)tttcag>ttGTag	p.552_553FQ>L*	ARHGAP26_uc003lmt.3_Nonsense_Mutation_p.552_553FQ>L*|ARHGAP26_uc003lmw.3_Nonsense_Mutation_p.552_553FQ>L*	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	552	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATCAAATTTCAGAACATTGT	0.441000														91			18		0	0	6.4e-05	0	0
CYP4F12	66002	broad.mit.edu	37	19	15784417	15784418	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:15784417_15784418GG>AA	uc002nbl.3	+	1	197_198	c.78_79GG>AA	c.(76-81)gtgggc>gtAAgc	p.G27S	CYP4F12_uc010xoo.2_Missense_Mutation_p.G27S|CYP4F12_uc010xop.2_Missense_Mutation_p.G27S	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TGCTGGTTGTGGGCTCCTGGCT	0.629000														105			9		0	0	6.4e-05	0	0
PLXDC2	84898	broad.mit.edu	37	10	20534415	20534415	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:20534415C>A	uc001iqg.1	+	12	2091	c.1454C>A	c.(1453-1455)gCc>gAc	p.A485D	PLXDC2_uc001iqh.1_Missense_Mutation_p.A436D|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	485						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ACATCAGCAGCCAGCATCTTC	0.443000														126			10		3.07112e-06	8.23296e-05	6.40141e-05	1	0
RNF148	378925	broad.mit.edu	37	7	122342240	122342240	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:122342240G>T	uc003vkk.1	-	0	782	c.565C>A	c.(565-567)Cat>Aat	p.H189N	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	189						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						ATGATGTAATGGCTCACCCAC	0.438000														228			7		0.000157383	0.00416568	0.000157383	1	0
PSG3	5671	broad.mit.edu	37	19	43242965	43242966	+	Missense_Mutation	DNP	CG	AT	AT	rs149473391	byFrequency	TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:43242965_43242966CG>AT	uc002oue.3	-	1	472_473	c.340_341CG>AT	c.(340-342)cgg>ATg	p.R114M	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	114	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGCGTCCTCCCGGGTGACATTC	0.460000														320			9		0	0	6.4e-05	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64672362	64672363	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:64672362_64672363CC>AA	uc003dmg.3	-	1	429_430	c.397_398GG>TT	c.(397-399)ggg>TTg	p.G133L	ADAMTS9_uc011bfo.2_Missense_Mutation_p.G133L|ADAMTS9_uc003dmh.1_5'UTR|ADAMTS9_uc003dmk.1_Missense_Mutation_p.G133L|ADAMTS9-AS2_uc003dml.3_Intron	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	133					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGATTCACCCCGGGCGTCCCG	0.525000														362			12		0	0	6.4e-05	0	0
PHLPP2	23035	broad.mit.edu	37	16	71697869	71697869	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:71697869G>A	uc002fax.3	-	11	1924	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Intron	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	640						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TGCCCTACCAGGACAGGTATG	0.468000														59			14		0	0	0.000422831	0	0
AP3D1	8943	broad.mit.edu	37	19	2115260	2115260	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:2115260G>A	uc002lva.3	-	19	2530	c.2307C>T	c.(2305-2307)gcC>gcT	p.A769A	AP3D1_uc002luy.3_Silent_p.A678A|AP3D1_uc002luz.3_Silent_p.A769A	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	769					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGGCAGGGGCGATGTCCT	0.602000														33			6		0	0	3.59834e-05	0	0
PAK7	57144	broad.mit.edu	37	20	9546931	9546931	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:9546931G>A	uc002wnl.2	-	5	1636	c.1091C>T	c.(1090-1092)tCg>tTg	p.S364L	PAK7_uc002wnk.2_Missense_Mutation_p.S364L|PAK7_uc002wnj.2_Missense_Mutation_p.S364L|PAK7_uc010gby.1_Missense_Mutation_p.S364L	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	364	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.S364L(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGAATAGCCCGATTTGCTTTG	0.562000														79			21		0	0	0.000229342	0	0
LNPEP	4012	broad.mit.edu	37	5	96349474	96349474	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:96349474C>A	uc003kmv.1	+	11	2672	c.2158C>A	c.(2158-2160)Cct>Act	p.P720T	LNPEP_uc003kmw.1_Missense_Mutation_p.P706T	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	720					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAAAATAAATCCTTATGTTCT	0.338000														164			15		4.35082e-09	1.19078e-07	0.000175454	1	0
ZFPM2	23414	broad.mit.edu	37	8	106813585	106813585	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:106813585G>A	uc003ymd.3	+	7	1298	c.1275G>A	c.(1273-1275)aaG>aaA	p.K425K	ZFPM2_uc011lhs.2_Silent_p.K156K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	425					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAGCCAAAAGGCCATGCAGA	0.493000														42			5		0	0	1.23904e-05	0	0
MUC3A	4584	broad.mit.edu	37	7	100552009	100552009	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:100552009C>T	uc003uxl.1	+	0	1260	c.460C>T	c.(460-462)Cca>Tca	p.P154S	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;									p.F154L(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAGCATAACTCCAGTGTTCTC	0.428000														702			32		0	0	0.000159656	0	0
ADCY8	114	broad.mit.edu	37	8	131861885	131861885	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:131861885G>A	uc003ytd.4	-	9	2631	c.2375C>T	c.(2374-2376)tCc>tTc	p.S792F	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	792					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AATCAAAATGGATGCAAAGAT	0.443000										HNSCC(32;0.087)				44			7		0	0	0.000274275	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174830	150174830	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:150174830G>A	uc003whj.3	+	4	2290	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	654						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTCCCAAGCCGAAAAACTCCT	0.463000														54			16		0	0	0.000308642	0	0
COL1A1	1277	broad.mit.edu	37	17	48263849	48263850	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:48263849_48263850GG>AA	uc002iqm.3	-	48	3959_3960	c.3833_3834CC>TT	c.(3832-3834)ccc>cTT	p.P1278L	DD181999_uc021tzy.1_5'Flank	NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1278	Fibrillar collagen NC1.				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		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGCCTTGGTTGGGGTCAATCCA	0.569000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							46			14		0	0	6.4e-05	0	0
GPATCH3	63906	broad.mit.edu	37	1	27217645	27217645	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:27217645G>A	uc001bne.3	-	6	1463	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S	BC016143_uc021ojq.1_Intron|GPN2_uc001bnd.1_5'Flank|GPATCH3_uc009vsp.2_Silent_p.S289S	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	Homo sapiens G patch domain containing 3 (GPATCH3), mRNA.	478						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CATAGATGGTGGAGATGAGCC	0.547000														32			5		0	0	1.23904e-05	0	0
FAT4	79633	broad.mit.edu	37	4	126371967	126371967	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:126371967C>T	uc003ifj.4	+	8	9796	c.9796C>T	c.(9796-9798)Ctt>Ttt	p.L3266F	FAT4_uc011cgp.2_Missense_Mutation_p.L1564F|FAT4_uc003ifi.1_Missense_Mutation_p.L744F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3266	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGCTACCATCTTACTGTGAA	0.423000														47			8		0	0	0.000274275	0	0
PRDM1	639	broad.mit.edu	37	6	106555006	106555006	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:106555006G>A	uc003prd.2	+	6	2357	c.2123G>A	c.(2122-2124)gGg>gAg	p.G708E	PRDM1_uc003pre.3_Missense_Mutation_p.G574E	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	708					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E707K(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CACCTGAAAGGGAACTGCGCT	0.567000			"""D, N, Mis, F, S"""		DLBCL									241			26		0	0	0.000227799	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187229	140187229	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:140187229C>T	uc003lhi.2	+	0	558	c.457C>T	c.(457-459)Cca>Tca	p.P153S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.P153S|PCDHAC2_uc011daa.2_Missense_Mutation_p.P153S	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	168	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCGGTTTCCACTAGAGGG	0.537000														84			15		0	0	5.01169e-05	0	0
PSMA6	5687	broad.mit.edu	37	14	35778191	35778192	+	Nonsense_Mutation	DNP	CG	AT	AT	rs145545043	byFrequency	TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr14:35778191_35778192CG>AT	uc001wtd.3	+	2	352_353	c.243_244CG>AT	c.(241-246)accgga>acATga	p.G82*	KIAA0391_uc001wta.3_Non-coding_Transcript|PSMA6_uc010tpt.2_Nonsense_Mutation_p.G3*|PSMA6_uc010tpu.2_Nonsense_Mutation_p.G3*	NM_002791	NP_002782	P60900	PSA6_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 6 (PSMA6), mRNA.	82					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|RNA binding|purine ribonucleoside triphosphate binding|threonine-type endopeptidase activity	p.G82A(1)		kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		GTGTGATGACCGGAATGACAGG	0.277000														303			8		0	0	6.4e-05	0	0
C1orf52	148423	broad.mit.edu	37	1	85724326	85724326	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:85724326G>A	uc001dkv.3	-	1	395	c.356C>T	c.(355-357)cCt>cTt	p.P119L	C1orf52_uc001dkw.3_Non-coding_Transcript|C1orf52_uc001dkx.4_Non-coding_Transcript|C1orf52_uc009wcn.3_Missense_Mutation_p.P119L	NM_198077	NP_932343	Q8N6N3	CA052_HUMAN	Homo sapiens chromosome 1 open reading frame 52 (C1orf52), transcript variant 1, mRNA.	119										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		AAGCTCTGGAGGCGGAGGCTT	0.438000														53			10		0	0	2.17888e-05	0	0
DYSF	8291	broad.mit.edu	37	2	71908140	71908140	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:71908140G>A	uc010fen.3	+	53	6214	c.6073G>A	c.(6073-6075)Gaa>Aaa	p.E2025K	DYSF_uc010fei.3_Missense_Mutation_p.E2003K|DYSF_uc010feh.3_Missense_Mutation_p.E1993K|DYSF_uc002sig.4_Missense_Mutation_p.E1972K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.E2017K|DYSF_uc010fee.3_Missense_Mutation_p.E2007K|DYSF_uc010fef.3_Missense_Mutation_p.E2024K|DYSF_uc002sie.3_Missense_Mutation_p.E1986K|DYSF_uc010feo.3_Missense_Mutation_p.E2018K|DYSF_uc010fej.3_Missense_Mutation_p.E1994K|DYSF_uc010fel.3_Missense_Mutation_p.E1973K|DYSF_uc010fem.3_Missense_Mutation_p.E2008K|DYSF_uc002sif.3_Missense_Mutation_p.E1987K|DYSF_uc010fek.3_Missense_Mutation_p.E2004K|DYSF_uc010yqy.2_Missense_Mutation_p.E867K|DYSF_uc010yqz.2_Missense_Mutation_p.E747K	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1986						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGGCAAGCTGGAAATGACCTT	0.572000														45			5		0	0	0.000157383	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140308559	140308559	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:140308559A>T	uc003lih.2	+	0	2258	c.2082A>T	c.(2080-2082)ttA>ttT	p.L694F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.L694F	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	718					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCCTTTTTATTTCTGGGGT	0.478000														94			9		0	0	6.40141e-05	0	0
CHST12	55501	broad.mit.edu	37	7	2472430	2472430	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:2472430C>T	uc003smc.3	+	1	319	c.156C>T	c.(154-156)ccC>ccT	p.P52P	CHST12_uc003smd.3_Silent_p.P52P|CHST12_uc021zyu.1_Silent_p.P52P|CHST12_uc021zyv.1_Silent_p.P52P	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	52			P -> H (in dbSNP:rs3735099).		dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TGCCCACGCCCGGGCCGGACA	0.642000														65			18		0	0	0.000175454	0	0
FAM71C	196472	broad.mit.edu	37	12	100042415	100042415	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:100042415C>T	uc001tgn.3	+	0	888	c.463C>T	c.(463-465)Cca>Tca	p.P155S	ANKS1B_uc001tge.2_Intron|ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	Homo sapiens family with sequence similarity 71, member C (FAM71C), mRNA.	155										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		GCTGTGTCCTCCATCGGATGC	0.473000														50			6		0	0	8.12818e-05	0	0
ZC3H3	23144	broad.mit.edu	37	8	144620568	144620568	+	Silent	SNP	A	G	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:144620568A>G	uc003yyd.2	-	1	998	c.969T>C	c.(967-969)gtT>gtC	p.V323V		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	323					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCCTCCGAGCAACCCGGGGAC	0.597000														134			8		0	0	2.17888e-05	0	0
ACSM2A	123876	broad.mit.edu	37	16	20482505	20482505	+	Missense_Mutation	SNP	C	T	T	rs142316126		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:20482505C>T	uc010bwe.3	+	5	946	c.707C>T	c.(706-708)tCg>tTg	p.S236L	ACSM2A_uc010bwd.1_Intron|ACSM2A_uc010vax.1_Missense_Mutation_p.S157L|ACSM2A_uc002dhf.4_Missense_Mutation_p.S236L|ACSM2A_uc002dhg.4_Missense_Mutation_p.S236L|ACSM2A_uc010vay.2_Missense_Mutation_p.S157L	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	236					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CATTCCTACTCGAGCCTGGGC	0.502000														76			9		0	0	0.000274275	0	0
ASXL3	80816	broad.mit.edu	37	18	31325110	31325110	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:31325110G>A	uc010dmg.1	+	11	5353	c.5298G>A	c.(5296-5298)caG>caA	p.Q1766Q	ASXL3_uc002kxq.2_Silent_p.Q1473Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1766					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGTTGCCACAGCCCAGATTGG	0.517000														37			9		0	0	0.000274275	0	0
SMOX	54498	broad.mit.edu	37	20	4162833	4162833	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:4162833C>T	uc002wkp.2	+	4	908	c.707C>T	c.(706-708)cCc>cTc	p.P236L	SMOX_uc010zqo.1_Missense_Mutation_p.P213L|SMOX_uc002wkk.1_Missense_Mutation_p.P236L|SMOX_uc002wkl.1_Missense_Mutation_p.P236L|SMOX_uc002wkm.1_Missense_Mutation_p.P236L|SMOX_uc002wkn.1_Intron|SMOX_uc002wko.1_Missense_Mutation_p.P236L	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA.	236					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	CACATCATCCCCTCGGGCTTC	0.647000														34			8		0	0	0.000274275	0	0
FAM75A7	26165	broad.mit.edu	37	9	65506493	65506494	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr9:65506493_65506494GG>TT	uc004adx.4	-	3	1095_1096	c.1066_1067CC>AA	c.(1066-1068)cca>AAa	p.P356K		NM_015667	NP_056482	Q8IWB4	F75A7_HUMAN	Homo sapiens family with sequence similarity 75, member A7 (FAM75A7), mRNA.	356						integral to membrane				breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						GTGCTTTTCTGGGGTCATTCGA	0.426000														281			9		0	0	6.4e-05	0	0
HSPA12A	259217	broad.mit.edu	37	10	118435910	118435910	+	Splice_Site	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:118435910G>A	uc001lct.3	-	11	1495	c.1390_splice	c.e11+1	p.R464_splice	HSPA12A_uc001lcu.3_Splice_Site_p.R381_splice	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	464							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGATACTTACGGAGATGCTCA	0.572000														87			9		0	0	3.86212e-05	0	0
RDM1	201299	broad.mit.edu	37	17	34251717	34251717	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:34251717C>T	uc002hkh.3	-	3	508	c.459G>A	c.(457-459)ccG>ccA	p.P153P	RDM1_uc010cty.3_Intron|RDM1_uc010ctz.3_Intron|RDM1_uc010cua.3_Silent_p.P130P|RDM1_uc002hkg.4_Silent_p.P130P|RDM1_uc010cub.3_Intron|RDM1_uc010cuf.3_Intron|RDM1_uc010cue.3_Intron|RDM1_uc010cug.3_Intron|RDM1_uc010cuc.3_Intron|RDM1_uc010cud.3_Silent_p.P153P|RDM1_uc010wco.2_Intron|RDM1_uc010wcp.2_Silent_p.P130P|RDM1_uc002hki.3_Silent_p.P153P	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN	Homo sapiens RAD52 motif 1 (RDM1), transcript variant 1, mRNA.	153					DNA recombination|DNA repair	Cajal body|PML body|cytoplasm|nucleolus	DNA binding|RNA binding|nucleotide binding			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGCTTTGCTTCGGAAGTGGCA	0.468000								Other identified genes with known or suspected DNA repair function						85			18		0	0	7.07596e-05	0	0
ACOT12	134526	broad.mit.edu	37	5	80638515	80638515	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:80638515C>T	uc003khl.4	-	10	1159	c.1104G>A	c.(1102-1104)tgG>tgA	p.W368*	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	368	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TGGTAACCTCCCAACCCCTTT	0.448000														122			14		0	0	0.000422831	0	0
ATP5SL	55101	broad.mit.edu	37	19	41942339	41942340	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:41942339_41942340CC>TT	uc002oqv.3	-	2	338_339	c.271_272GG>AA	c.(271-273)ggc>AAc	p.G91N	ATP5SL_uc010xwa.2_Missense_Mutation_p.G91N|ATP5SL_uc002oqw.2_Missense_Mutation_p.G85N|ATP5SL_uc021uuz.1_Non-coding_Transcript|ATP5SL_uc002oqx.2_Intron|ATP5SL_uc002oqy.2_Missense_Mutation_p.G85N|ATP5SL_uc002oqz.2_Intron|ATP5SL_uc002ora.1_Missense_Mutation_p.G72N|ATP5SL_uc010xwb.2_Intron	NM_001167867	NP_001161339	Q9NW81	AT5SL_HUMAN	Homo sapiens ATP5S-like (ATP5SL), transcript variant 1, mRNA.	85										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						GGCACCTGCGCCGTATGGACCA	0.564000														84			17		0	0	6.4e-05	0	0
SYT4	6860	broad.mit.edu	37	18	40853859	40853859	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:40853859C>T	uc002law.3	-	1	904	c.535G>A	c.(535-537)Ggc>Agc	p.G179S	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Missense_Mutation_p.G161S	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	179	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GCTGGCAAGCCACGGGCTTCC	0.443000														70			6		0	0	3.59834e-05	0	0
NBPF1	55672	broad.mit.edu	37	1	16914222	16914224	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:16914222_16914224GG>TT	uc009vos.1	-	9	1450_1452	c.562_564CC>AA	c.(562-564)ccc>AA	p.P188del	NBPF1_uc009vot.1_5'Flank|NBPF1_uc001ayz.1_5'Flank|NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	188	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTGTTACCTGGGGGCAGATGAT	0.443000														564			10		0	0	6.4e-05	0	0
HEPHL1	341208	broad.mit.edu	37	11	93779085	93779085	+	Splice_Site	SNP	T	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:93779085T>A	uc001pep.2	+	2	572	c.415_splice	c.e2+2	p.G139_splice		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	139	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATTCAGAAGGTAAATATCAAT	0.368000														48			6		0	0	0.000157383	0	0
SLC12A5	57468	broad.mit.edu	37	20	44670038	44670038	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:44670038G>A	uc010zxl.1	+	7	1070	c.994G>A	c.(994-996)Gga>Aga	p.G332R	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.G309R	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	332					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCTTGGGAAGGAAATGAGAC	0.552000														58			13		0	0	0.000219431	0	0
C17orf102	400591	broad.mit.edu	37	17	32906108	32906108	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:32906108G>A	uc002hie.1	-	0	281	c.192C>T	c.(190-192)tcC>tcT	p.S64S	TMEM132E_uc002hif.3_5'Flank	NM_207454	NP_997337	A2RUQ5	CQ102_HUMAN	Homo sapiens chromosome 17 open reading frame 102 (C17orf102), mRNA.	64										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						CCGCGCCTCTGGAAGAGCGGC	0.667000														88			9		0	0	0.000151284	0	0
NFASC	23114	broad.mit.edu	37	1	204913534	204913534	+	Splice_Site	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:204913534C>T	uc010prc.2	+	1	181	c.-1348_splice	c.e1+1		NFASC_uc001hbh.3_Splice_Site_p.P31_splice|NFASC_uc010pqz.2_Splice_Site_p.L31_splice|NFASC_uc001hbj.3_Splice_Site_p.P31_splice|NFASC_uc010pra.2_Splice_Site_p.L31_splice|NFASC_uc001hbi.3_Splice_Site_p.L31_splice|NFASC_uc009xbg.1_Splice_Site_p.L104_splice|NFASC_uc010prb.2_Splice_Site_p.L31_splice			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.						axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.L31L(1)|p.P31S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCCTATGGATCGTGAGTCCTG	0.572000														19			5		0	0	1.23904e-05	0	0
LRFN3	79414	broad.mit.edu	37	19	36435675	36435675	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:36435675C>T	uc002oco.3	+	2	2093	c.1641C>T	c.(1639-1641)atC>atT	p.I547I		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	547					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCGGCGTCATCGTAGCCTCGG	0.677000														25			6		0	0	8.12818e-05	0	0
DGKB	1607	broad.mit.edu	37	7	14724893	14724893	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:14724893C>T	uc003ssz.3	-	8	993	c.806G>A	c.(805-807)gGg>gAg	p.G269E	DGKB_uc011jxt.2_Missense_Mutation_p.G262E|DGKB_uc003sta.3_Missense_Mutation_p.G269E|DGKB_uc011jxu.2_Missense_Mutation_p.G269E|DGKB_uc011jxv.1_Missense_Mutation_p.G269E	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	269					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GCCCTGCTTCCCCACGCCAAT	0.478000														61			10		0	0	0.00010058	0	0
DMD	1756	broad.mit.edu	37	X	31201000	31201000	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chrX:31201000C>T	uc004dda.1	-	67	10073	c.9829G>A	c.(9829-9831)Gaa>Aaa	p.E3277K	DMD_uc004dcq.1_Missense_Mutation_p.E548K|DMD_uc004dcr.1_Missense_Mutation_p.E817K|DMD_uc004dcs.1_Missense_Mutation_p.E817K|DMD_uc004dct.1_Missense_Mutation_p.E817K|DMD_uc004dcu.1_Missense_Mutation_p.E817K|DMD_uc004dcv.1_Missense_Mutation_p.E817K|DMD_uc004dcw.2_Missense_Mutation_p.E1933K|DMD_uc004dcx.2_Missense_Mutation_p.E1936K|DMD_uc004dcz.2_Missense_Mutation_p.E3154K|DMD_uc004dcy.1_Missense_Mutation_p.E3273K|DMD_uc004ddb.1_Missense_Mutation_p.E3269K|DMD_uc004dcp.1_Missense_Mutation_p.E209K|DMD_uc011mkb.1_Missense_Mutation_p.E209K|DMD_uc004dcm.1_Missense_Mutation_p.E209K|DMD_uc004dcn.1_Missense_Mutation_p.E209K|DMD_uc004dco.1_Missense_Mutation_p.E209K|DMD_uc010ngm.3_Missense_Mutation_p.E209K	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3277	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGGCCGCTTCGATCTCTGGC	0.527000														22			10		0	0	3.86212e-05	0	0
GRM7	2917	broad.mit.edu	37	3	7188208	7188208	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:7188208C>T	uc003bqm.2	+	1	863	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.R197C|GRM7_uc003bql.2_Missense_Mutation_p.R197C	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	197					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CTTCTTCTCTCGCGTGGTGCC	0.522000														83			8		0	0	2.17888e-05	0	0
CASC3	22794	broad.mit.edu	37	17	38325581	38325581	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:38325581C>T	uc010cwt.1	+	11	2265	c.1970C>T	c.(1969-1971)cCa>cTa	p.P657L	CASC3_uc002hue.3_Missense_Mutation_p.P657L	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	657	Necessary for localization in cytoplasmic stress granules.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						TCCCAGGCCCCATCACAGGTA	0.527000														127			29		0	0	0.000339439	0	0
LMX1A	4009	broad.mit.edu	37	1	165173144	165173144	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:165173144G>A	uc001gcz.2	-	8	1316	c.1122C>T	c.(1120-1122)tcC>tcT	p.S374S	LMX1A_uc021pdz.1_Silent_p.S374S|LMX1A_uc021pdy.1_Silent_p.S125S|LMX1A_uc001gcw.2_Silent_p.S92S	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	374						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AATTCTGCATGGAGTACAGAT	0.493000														51			13		0	0	0.000219431	0	0
PPA2	27068	broad.mit.edu	37	4	106367568	106367568	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:106367568T>C	uc003hxl.3	-	4	433	c.413A>G	c.(412-414)tAt>tGt	p.Y138C	PPA2_uc003hxn.3_Missense_Mutation_p.Y138C|PPA2_uc003hxo.3_Intron|PPA2_uc003hxp.3_Intron|PPA2_uc003hxq.3_Missense_Mutation_p.Y45C|PPA2_uc011cfa.1_Missense_Mutation_p.Y45C	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	Homo sapiens pyrophosphatase (inorganic) 2 (PPA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	138					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		ATTCCATATATAACCCTTGTA	0.373000														115			14		0	0	9.7654e-05	0	0
IRX2	153572	broad.mit.edu	37	5	2749026	2749026	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:2749026C>T	uc003jda.3	-	2	1038	c.796G>A	c.(796-798)Gac>Aac	p.D266N	IRX2_uc003jdb.3_Missense_Mutation_p.D266N	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	266						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D266V(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TCGTCCTCGTCGTCCTCCAGG	0.721000														22			8		0	0	0.000274275	0	0
KCNQ3	3786	broad.mit.edu	37	8	133184904	133184904	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:133184904C>T	uc003ytj.3	-	6	1306	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	KCNQ3_uc003yti.3_Missense_Mutation_p.E241K|KCNQ3_uc010mdt.3_Missense_Mutation_p.E361K	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	361					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E361D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CGGTGTTGCTCCTGCACCTTG	0.587000														96			5		0	0	1.23904e-05	0	0
ABCA9	10350	broad.mit.edu	37	17	66992103	66992103	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:66992103C>T	uc002jhu.3	-	25	3631	c.3488G>A	c.(3487-3489)gGg>gAg	p.G1163E	ABCA9_uc010dez.3_Missense_Mutation_p.G1125E	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1163					transport	integral to membrane	ATP binding|ATPase activity	p.L1162P(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAAAAATAGCCCTAGAAATCC	0.378000														69			5		0	0	1.23904e-05	0	0
KIAA1274	27143	broad.mit.edu	37	10	72324133	72324133	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:72324133A>G	uc001jrd.4	+	18	2557	c.2276A>G	c.(2275-2277)aAa>aGa	p.K759R	KIAA1274_uc001jre.4_Missense_Mutation_p.K50R	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	759										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						AAGGCAGCGAAAGAGGCGCAA	0.612000														69			4		0	0	0.00024832	0	0
RBM48	84060	broad.mit.edu	37	7	92163790	92163790	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:92163790G>A	uc003uma.3	+	3	564	c.523G>A	c.(523-525)Gag>Aag	p.E175K	RBM48_uc011khu.1_3'UTR|RBM48_uc003ulz.3_Missense_Mutation_p.E175K			Q5RL73	CG064_HUMAN	Homo sapiens RNA binding motif protein 48 (RBM48), mRNA.	175							nucleotide binding										CTTCCACTCAGAGATGTCTGG	0.363000														54			13		0	0	0.000308642	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187692974	187692974	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:187692974C>T	uc002upu.1	-	8	1679	c.1639G>A	c.(1639-1641)Ggc>Agc	p.G547S		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	547					apoptosis		zinc ion binding	p.K546R(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CATTTACAGCCTTTGGTCATC	0.393000														32			8		0	0	0.000157383	0	0
ACSL1	2180	broad.mit.edu	37	4	185678861	185678861	+	Splice_Site	SNP	C	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:185678861C>A	uc003iww.2	-	20	2179	c.1885_splice	c.e20-1	p.D629_splice	ACSL1_uc011ckm.1_Splice_Site_p.D458_splice|ACSL1_uc003iwt.1_Splice_Site_p.D629_splice|ACSL1_uc003iwu.1_Splice_Site_p.D629_splice|ACSL1_uc011ckn.1_Splice_Site_p.D595_splice|ACSL1_uc003iws.1_Splice_Site_p.D189_splice	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	629					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTTTGACATCCTAAAAGGGTA	0.398000														150			8		0.000157383	0.00416568	0.000157383	1	0
ERCC6	2074	broad.mit.edu	37	10	50691522	50691522	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:50691522A>G	uc001jhs.4	-	8	2016	c.1862T>C	c.(1861-1863)tTg>tCg	p.L621S	ERCC6_uc010qgr.2_5'UTR|ERCC6_uc001jhr.4_Missense_Mutation_p.L21S	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	621	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGATGTGATCAAAATTCCATG	0.378000								Direct reversal of damage;Nucleotide excision repair (NER)						85			4		0	0	0.00024832	0	0
AACS	65985	broad.mit.edu	37	12	125609487	125609487	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:125609487C>T	uc001uhc.3	+	11	1432	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	AACS_uc001uhd.3_Missense_Mutation_p.S409F|AACS_uc009zyh.3_Intron|AACS_uc009zyi.3_Missense_Mutation_p.S7F	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	409					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ACGATCCTGTCCACTGGCTCC	0.557000														68			6		0	0	8.12818e-05	0	0
PKD1	5310	broad.mit.edu	37	16	2153649	2153649	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:2153649G>A	uc002cos.1	-	22	8618	c.8409C>T	c.(8407-8409)ggC>ggT	p.G2803G	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.G2803G|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2803	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.G2803V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGAAGTGGCAGCCAGGCCCTG	0.672000														53			8		0	0	0.000274275	0	0
DSG2	1829	broad.mit.edu	37	18	29100904	29100904	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:29100904C>T	uc002kwu.4	+	3	543	c.355C>T	c.(355-357)Cga>Tga	p.R119*		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	119	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CATTCTTGATCGAGAAGAAAC	0.294000														53			6		0	0	0.000157383	0	0
NLRP13	126204	broad.mit.edu	37	19	56424571	56424571	+	Silent	SNP	G	A	A	rs142264094	byFrequency	TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:56424571G>A	uc010ygg.2	-	4	637	c.612C>T	c.(610-612)atC>atT	p.I204I		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	204							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATGTATTACGGATATATACGT	0.498000														160			21		0	0	0.000229342	0	0
SEPN1	57190	broad.mit.edu	37	1	26131760	26131760	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:26131760C>T	uc021ojk.1	+	3	586	c.531C>T	c.(529-531)ttC>ttT	p.F177F	SEPN1_uc021ojl.1_Silent_p.F143F	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	Homo sapiens selenoprotein N, 1 (SEPN1), transcript variant 1, mRNA.	177						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		AAGATGGCTTCCTAGGGGTGA	0.567000														54			9		0	0	2.17888e-05	0	0
AMFR	267	broad.mit.edu	37	16	56423115	56423115	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:56423115G>T	uc002eiy.3	-	8	1463	c.1258C>A	c.(1258-1260)Cac>Aac	p.H420N	AMFR_uc002eix.3_Intron	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	Homo sapiens autocrine motility factor receptor (AMFR), mRNA.	420					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TGGAAGAAGTGATTGTGTTGG	0.423000														90			6		2.0095e-06	5.40085e-05	8.12818e-05	1	0
SLC2A10	81031	broad.mit.edu	37	20	45355517	45355518	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:45355517_45355518CT>TC	uc002xsl.3	+	2	1400_1401	c.1303_1304CT>TC	c.(1303-1305)ctc>TCc	p.L435S		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	435						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CTGGCTTGTCCTCAGCGAGATC	0.589000														130			10		0	0	6.4e-05	0	0
SYNE1	23345	broad.mit.edu	37	6	152686086	152686086	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:152686086G>A	uc021zhb.1	-	60	10264	c.10041C>T	c.(10039-10041)gtC>gtT	p.V3347V	SYNE1_uc003qot.4_Silent_p.V3354V|SYNE1_uc003qou.4_Silent_p.V3347V|SYNE1_uc010kja.2_Silent_p.V52V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3347					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATTCTGAAGGACAGATTCTC	0.433000										HNSCC(10;0.0054)				63			15		0	0	0.000308642	0	0
TMC2	117532	broad.mit.edu	37	20	2597740	2597740	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr20:2597740G>A	uc002wgf.1	+	15	1978	c.1963G>A	c.(1963-1965)Ggc>Agc	p.G655S	TMC2_uc002wgg.1_Missense_Mutation_p.G639S	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	655						integral to membrane		p.P654P(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTATGCTCCAGGCCTGGTGGG	0.567000														35			7		0	0	2.17888e-05	0	0
TLR4	7099	broad.mit.edu	37	9	120476865	120476865	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr9:120476865C>T	uc004bjz.3	+	2	2750	c.2459C>T	c.(2458-2460)tCa>tTa	p.S820L	TLR4_uc004bkb.3_Missense_Mutation_p.S620L|TLR4_uc004bka.3_Missense_Mutation_p.S780L	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	820					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GATGGTAAATCATGGAATCCA	0.502000														86			11		0	0	0.000308642	0	0
MPP2	4355	broad.mit.edu	37	17	41959867	41959867	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:41959867G>A	uc010win.1	-	4	652	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	MPP2_uc002ien.1_Missense_Mutation_p.R173C|MPP2_uc010wim.1_Missense_Mutation_p.R145C|MPP2_uc002ieo.1_Missense_Mutation_p.R156C|MPP2_uc010wio.1_Missense_Mutation_p.R145C|MPP2_uc010wip.1_Missense_Mutation_p.R201C|MPP2_uc010czm.1_Missense_Mutation_p.R139C			Q14168	MPP2_HUMAN	Homo sapiens membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (MPP2), mRNA.	180	L27 1.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCCTCCACGCGGAACGTTACA	0.552000														34			4		0	0	0.00024832	0	0
GRB14	2888	broad.mit.edu	37	2	165378510	165378510	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:165378510A>C	uc002ucl.3	-	5	1337	c.796T>G	c.(796-798)Tct>Gct	p.S266A	GRB14_uc010zcv.2_Missense_Mutation_p.S179A	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	266	PH.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CCTTTAGTAGAAAAATATAAA	0.299000														126			16		0	0	9.7654e-05	0	0
TTN	7273	broad.mit.edu	37	2	179455439	179455439	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:179455439C>T	uc021vsy.1	-	252	53534	c.53309G>A	c.(53308-53310)gGa>gAa	p.G17770E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G11465E|TTN_uc021vta.1_Missense_Mutation_p.G11398E|TTN_uc021vtb.1_Missense_Mutation_p.G11273E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18697	Ig-like 104.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V17770V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATGTATTTCCTTCATAGAG	0.438000														111			20		0	0	9.7654e-05	0	0
SULT1B1	27284	broad.mit.edu	37	4	70620402	70620402	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:70620402C>T	uc003hen.3	-	2	561	c.263G>A	c.(262-264)gGa>gAa	p.G88E		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	88					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		p.P87H(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TGTTCTTAATCCAGGGAGAGT	0.303000														161			13		0	0	0.000422831	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99057750	99057750	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:99057750C>A	uc011kiw.2	-	1	140	c.80G>T	c.(79-81)cGg>cTg	p.R27L	ATP5J2-PTCD1_uc003uqm.3_Missense_Mutation_p.R33L|ATP5J2-PTCD1_uc003uql.3_Missense_Mutation_p.R27L|ATP5J2-PTCD1_uc003uqo.3_Missense_Mutation_p.R33L|ATP5J2-PTCD1_uc003uqn.3_Missense_Mutation_p.R27L	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	27																	ACTGAAGTCCCGCATCAAGAT	0.468000														246			7		0.000274275	0.00716887	0.000274275	1	0
ZDBF2	57683	broad.mit.edu	37	2	207172439	207172439	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:207172439G>A	uc002vbp.2	+	4	3437	c.3187G>A	c.(3187-3189)Gaa>Aaa	p.E1063K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1063							nucleic acid binding|zinc ion binding	p.E1063*(3)|p.E1063K(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTTTTGAAGGAAAAACATGT	0.323000														75			14		0	0	5.01169e-05	0	0
TNFSF15	9966	broad.mit.edu	37	9	117552881	117552881	+	Missense_Mutation	SNP	C	T	T	rs150498686		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr9:117552881C>T	uc004bjh.3	-	3	723	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	TNFSF15_uc004bjg.3_Missense_Mutation_p.E144K	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	203					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						CTACCTACTTCGCATACAGAC	0.527000														33			5		0	0	1.23904e-05	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19418703	19418703	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:19418703C>T	uc001reb.3	+	7	738	c.630C>T	c.(628-630)atC>atT	p.I210I	PLEKHA5_uc010sie.2_Silent_p.I210I|PLEKHA5_uc001rea.3_Silent_p.I210I|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc010sig.2_Silent_p.I102I|PLEKHA5_uc010sih.1_Silent_p.I102I|PLEKHA5_uc021qvy.1_Silent_p.I102I	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	210	PH.						1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAGAGGGTATCCTGGGAAGCA	0.318000														168			26		0	0	0.000339439	0	0
DDX20	11218	broad.mit.edu	37	1	112305559	112305559	+	Missense_Mutation	SNP	C	G	G	rs142254105		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:112305559C>G	uc001ebs.3	+	9	1599	c.1242C>G	c.(1240-1242)tgC>tgG	p.C414W	DDX20_uc010owf.2_Missense_Mutation_p.C176W|DDX20_uc001ebt.3_Missense_Mutation_p.C22W	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.	414	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTACTGTTGCCGGGGAGAGG	0.378000														46			5		0	0	3.59834e-05	0	0
ZNF611	81856	broad.mit.edu	37	19	53208989	53208989	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:53208989G>A	uc002pzz.3	-	6	1636	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F	ZNF611_uc010eqc.3_Missense_Mutation_p.S370F|ZNF611_uc010ydo.2_Missense_Mutation_p.S370F|ZNF611_uc010ydp.2_Missense_Mutation_p.S440F|ZNF611_uc010ydq.2_Missense_Mutation_p.S440F|ZNF611_uc010ydr.2_Missense_Mutation_p.S371F|ZNF611_uc002qaa.4_Missense_Mutation_p.S370F|ZNF611_uc021uyy.1_Missense_Mutation_p.S371F	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GCATACAAGGGATGACTTGTG	0.403000														157			10		0	0	3.86212e-05	0	0
abParts	0	broad.mit.edu	37	22	22735666	22735666	+	RNA	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr22:22735666G>A	uc021wml.1	+	51		c.6101G>A								Parts of antibodies, mostly variable regions.																		TCCAGTCTGAGGATGAGGCTG	0.557000														72			7		0	0	0.00010058	0	0
NIPBL	25836	broad.mit.edu	37	5	36986309	36986309	+	Silent	SNP	T	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:36986309T>C	uc003jkl.4	+	9	3526	c.3027T>C	c.(3025-3027)tcT>tcC	p.S1009S	NIPBL_uc003jkk.4_Silent_p.S1009S|NIPBL_uc003jkm.1_Silent_p.S888S	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1009					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAAAACTGTCTTTGGATGATG	0.333000														249			44		0	0	0.000147903	0	0
LAMB2	3913	broad.mit.edu	37	3	49162318	49162318	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:49162318G>A	uc003cwe.3	-	20	3224	c.2925C>T	c.(2923-2925)gaC>gaT	p.D975D	LAMB2_uc003cwf.1_Silent_p.D975D	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	975	Laminin EGF-like 9.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCTTGATGGGTCCCCAAAGT	0.612000														51			5		0	0	8.12818e-05	0	0
ZNF646	9726	broad.mit.edu	37	16	31087904	31087904	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:31087904C>T	uc002eap.3	+	1	548	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	ZNF668_uc002eao.3_5'Flank|ZNF646_uc021tgu.1_Missense_Mutation_p.P87S	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTTCTCCAATCCCATGGCTCT	0.637000														35			11		0	0	3.86212e-05	0	0
CCK	885	broad.mit.edu	37	3	42299711	42299711	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:42299711C>T	uc021wwk.1	-	2	354	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	CCK_uc003cld.1_Missense_Mutation_p.R76Q	NM_001174138	NP_001167609	P06307	CCKN_HUMAN	Homo sapiens cholecystokinin (CCK), transcript variant 2, mRNA.	76					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity	p.R76Q(2)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		GATGGACATTCGTCCAGAAGG	0.517000														63			6		0	0	8.12818e-05	0	0
PER2	8864	broad.mit.edu	37	2	239180104	239180104	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:239180104G>A	uc002vyc.3	-	5	858	c.621C>T	c.(619-621)atC>atT	p.I207I	PER2_uc010znv.1_Silent_p.I207I|PER2_uc010znw.1_Silent_p.I207I|PER2_uc010fyx.1_Silent_p.I207I	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	207	PAS 1.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCTGGTCAGAGATGTACAGGA	0.522000														78			15		0	0	7.07596e-05	0	0
ERLEC1	27248	broad.mit.edu	37	2	54041754	54041754	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:54041754T>A	uc002rxl.3	+	11	1581	c.1301T>A	c.(1300-1302)cTa>cAa	p.L434Q	GPR75-ASB3_uc002rxi.4_Intron|ERLEC1_uc002rxm.3_Intron|ERLEC1_uc002rxn.3_Missense_Mutation_p.L380Q	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA.	434					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						ACTGTAAAACTAAAGTAAGTT	0.313000														34			7		0	0	0.000274275	0	0
POSTN	10631	broad.mit.edu	37	13	38153415	38153415	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr13:38153415A>G	uc001uwo.4	-	12	1860	c.1742T>C	c.(1741-1743)gTt>gCt	p.V581A	POSTN_uc010tet.2_Missense_Mutation_p.V109A|POSTN_uc001uwp.4_Missense_Mutation_p.V581A|POSTN_uc001uwr.3_Missense_Mutation_p.V581A|POSTN_uc001uwq.3_Missense_Mutation_p.V581A|POSTN_uc010teu.1_Missense_Mutation_p.V581A|POSTN_uc010tev.1_Missense_Mutation_p.V581A|POSTN_uc010tew.1_Missense_Mutation_p.V581A|POSTN_uc010tex.1_Missense_Mutation_p.V496A	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	581	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AATGTTAGTAACACCAGGTTC	0.333000														93			8		0	0	0.000274275	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136177	40136177	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:40136177G>A	uc021qgf.1	-	0	1666	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	LRRC4C_uc001mxc.1_Missense_Mutation_p.R552W|LRRC4C_uc001mxd.1_Missense_Mutation_p.R552W|LRRC4C_uc001mxa.1_Missense_Mutation_p.R556W|LRRC4C_uc001mxb.1_Missense_Mutation_p.R552W	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	556					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGGTTTTGCCGATGGTGCTGC	0.478000														90			6		0	0	3.59834e-05	0	0
SHISA5	51246	broad.mit.edu	37	3	48510878	48510878	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:48510878C>T	uc003ctp.1	-	4	659	c.525G>A	c.(523-525)caG>caA	p.Q175Q	SHISA5_uc003ctm.2_Silent_p.Q72Q|SHISA5_uc011bbk.1_Missense_Mutation_p.G84R|SHISA5_uc011bbl.2_Silent_p.Q73Q|SHISA5_uc003cto.1_Silent_p.Q144Q|SHISA5_uc003cts.1_Silent_p.Q144Q|SHISA5_uc003ctt.3_Silent_p.Q72Q	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), mRNA.	175	Pro-rich.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	WW domain binding|signal transducer activity			large_intestine(1)|lung(1)	2						TGTGGTAGCCCTGGTAGCTTG	0.637000														66			8		0	0	0.000157383	0	0
TUBA3D	113457	broad.mit.edu	37	2	132235846	132235846	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:132235846G>A	uc002tsu.4	+	1	306	c.113G>A	c.(112-114)aGt>aAt	p.S38N		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	38					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CAAATGCCAAGTGATAAAACC	0.557000														90			8		0	0	0.000274275	0	0
PDE1A	5136	broad.mit.edu	37	2	183066494	183066494	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:183066494C>T	uc002uos.3	-	9	1057	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	PDE1A_uc010zfp.1_Missense_Mutation_p.E221K|PDE1A_uc002uoq.1_Missense_Mutation_p.E325K|PDE1A_uc010zfq.1_Missense_Mutation_p.E325K|PDE1A_uc002uor.3_Missense_Mutation_p.E309K|PDE1A_uc002uou.3_Missense_Mutation_p.E291K	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	325	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AAAACCATTTCAATCACTAGG	0.373000														50			5		0	0	1.23904e-05	0	0
CARD11	84433	broad.mit.edu	37	7	2963915	2963915	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:2963915T>C	uc003smv.3	-	14	2226	c.1892A>G	c.(1891-1893)tAc>tGc	p.Y631C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	631					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTCCAGGTCGTAGGCATCCAG	0.592000			Mis		DLBCL									39			4		0	0	0.00024832	0	0
CWH43	80157	broad.mit.edu	37	4	49034687	49034687	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr4:49034687C>T	uc003gyv.3	+	11	1795	c.1613C>T	c.(1612-1614)tCg>tTg	p.S538L	CWH43_uc011bzl.2_Missense_Mutation_p.S511L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	538					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GTTAACATTTCGGGCAAGCTG	0.458000														87			12		0	0	0.000219431	0	0
LRWD1	222229	broad.mit.edu	37	7	102109094	102109094	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:102109094C>T	uc003uzn.3	+	7	1151	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L	MIR4467_uc022ajg.1_5'Flank	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	338					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						TACAAGGCACCCGGCGAGGTG	0.662000														5			3		0	0	0.00024832	0	0
OR51L1	119682	broad.mit.edu	37	11	5020679	5020679	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:5020679G>A	uc010qyu.2	+	0	467	c.467G>A	c.(466-468)gGa>gAa	p.G156E		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGAAGCTTGGGAGTTGTACTT	0.483000														128			39		0	0	0.000228196	0	0
ENPP7	339221	broad.mit.edu	37	17	77709192	77709192	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:77709192G>A	uc002jxa.3	+	2	770	c.750G>A	c.(748-750)acG>acA	p.T250T		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	250					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.T250T(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACGGCATGACGACCGTGGACA	0.607000														61			7		0	0	0.000274275	0	0
COL19A1	1310	broad.mit.edu	37	6	70851968	70851968	+	Splice_Site	SNP	G	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:70851968G>T	uc003pfc.1	+	22	1689	c.1572_splice	c.e22+1	p.K524_splice	COL19A1_uc010kam.2_Splice_Site_p.K420_splice	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	524	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CAGGACTAAAGGTATATAAGA	0.398000														28			7		1.76689e-08	4.8232e-07	2.17888e-05	1	0
PLXNA1	5361	broad.mit.edu	37	3	126737355	126737356	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr3:126737355_126737356CC>AT	uc003ejg.3	+	18	3879_3880	c.3879_3880CC>AT	c.(3877-3882)gccctc>gcATtc	p.L1294F		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1294					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.G1293S(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCCGCGTGGCCCTCGAATGCAA	0.649000														7			7		0	0	6.4e-05	0	0
PKD1L2	114780	broad.mit.edu	37	16	81232478	81232478	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:81232478G>A	uc002fgh.1	-	6	1332	c.1332C>T	c.(1330-1332)gtC>gtT	p.V444V	PKD1L2_uc002fgj.3_Silent_p.V444V	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	444	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCACCAAGTGGACTGTAATGT	0.562000														130			9		0	0	6.40141e-05	0	0
FGD2	221472	broad.mit.edu	37	6	36981805	36981805	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:36981805G>C	uc010jwp.1	+	5	923	c.752G>C	c.(751-753)cGt>cCt	p.R251P	FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Missense_Mutation_p.R57P	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	251	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGAATTCCACGTTACGAGCTG	0.647000														67			13		0	0	0.000151284	0	0
DHFR	1719	broad.mit.edu	37	5	79924953	79924953	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:79924953C>T	uc003kgy.1	-	5	1009	c.517G>A	c.(517-519)Gag>Aag	p.E173K	DHFR_uc011ctl.2_3'UTR|DHFR_uc011ctm.2_Non-coding_Transcript|DHFR_uc010jap.2_Non-coding_Transcript	NM_000791	NP_000782	P00374	DYR_HUMAN	Homo sapiens dihydrofolate reductase (DHFR), mRNA.	173	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	NADP binding|dihydrofolate reductase activity|drug binding|folate reductase activity			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	ATGCCTTTCTCCTCCTGGACA	0.333000														24			5		0	0	3.59834e-05	0	0
LOC644669	644669	broad.mit.edu	37	18	15316727	15316727	+	RNA	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:15316727G>A	uc002ktd.1	-	4		c.307C>T								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		TTTCTGCCAAGGGTGCAGCCT	0.418000														17			4		0	0	3.59834e-05	0	0
CDC25C	995	broad.mit.edu	37	5	137621477	137621477	+	Silent	SNP	A	G	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:137621477A>G	uc003lcs.1	-	13	1760	c.1560T>C	c.(1558-1560)acT>acC	p.T520T	CDC25C_uc003lcp.1_Silent_p.T442T|CDC25C_uc003lcq.1_Silent_p.T369T|CDC25C_uc003lcr.1_Silent_p.T442T|CDC25C_uc011cyp.1_Silent_p.T459T	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	442					DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCAGCAACTCAGTCTTGTGGT	0.527000														99			6		0	0	8.12818e-05	0	0
NSD1	64324	broad.mit.edu	37	5	176721292	176721292	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:176721292C>T	uc003mfr.4	+	22	7061	c.6923C>T	c.(6922-6924)tCc>tTc	p.S2308F	NSD1_uc003mft.4_Missense_Mutation_p.S2039F|NSD1_uc011dfx.2_Missense_Mutation_p.S1956F|NSD1_uc021yip.1_Missense_Mutation_p.S132F	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2308	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAATCCCAATCCTTGGTTTCC	0.577000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				57			6		0	0	3.59834e-05	0	0
KCNH1	3756	broad.mit.edu	37	1	210857140	210857140	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:210857140C>T	uc001hib.2	-	10	2623	c.2453G>A	c.(2452-2454)gGg>gAg	p.G818E	KCNH1_uc001hic.2_Missense_Mutation_p.G791E	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	818					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCACTCGGACCCTGGCGCCTG	0.667000														62			19		0	0	0.000229342	0	0
CPT1C	126129	broad.mit.edu	37	19	50216782	50216782	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:50216782G>A	uc010eng.3	+	19	2648	c.2332G>A	c.(2332-2334)Gag>Aag	p.E778K	CPT1C_uc002ppk.3_Missense_Mutation_p.E767K|CPT1C_uc010enh.3_Missense_Mutation_p.E778K|CPT1C_uc002ppj.3_Missense_Mutation_p.E778K|CPT1C_uc010eni.1_Missense_Mutation_p.E346K	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	778					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GTCAGGGAAGGAGAACTCCAG	0.607000														79			13		0	0	0.000151284	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611523	42611523	+	Silent	SNP	C	T	T	rs140821226	byFrequency	TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr8:42611523C>T	uc003xpj.3	-	4	1175	c.819G>A	c.(817-819)acG>acA	p.T273T	CHRNA6_uc011lcw.2_Silent_p.T258T	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA.	273						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAATACAAAGCGTCACTTTTT	0.443000														44			7		0	0	0.000274275	0	0
SIGLEC6	946	broad.mit.edu	37	19	52023452	52023452	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:52023452G>A	uc002pwy.3	-	7	1454	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	SIGLEC6_uc002pwz.3_Missense_Mutation_p.P400S|SIGLEC6_uc010ydb.2_Missense_Mutation_p.P364S|SIGLEC6_uc010ydc.2_3'UTR|SIGLEC6_uc002pxa.3_3'UTR|SIGLEC6_uc010eoz.2_3'UTR	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	416					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		p.T415T(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TCTGAGATGGGGCCAGCCTCA	0.502000														201			20		0	0	0.000229342	0	0
F13A1	2162	broad.mit.edu	37	6	6318852	6318852	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:6318852G>A	uc003mwv.3	-	1	169	c.46C>T	c.(46-48)Cca>Tca	p.P16S	F13A1_uc011dib.2_Missense_Mutation_p.P16S	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	16					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTATTGGGTGGAACTGCTCTT	0.498000														146			49		0	0	0.000147903	0	0
STAG2	10735	broad.mit.edu	37	X	123200028	123200028	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chrX:123200028C>T	uc004eua.3	+	21	2504	c.2100C>T	c.(2098-2100)gcC>gcT	p.A700A	STAG2_uc004etz.4_Silent_p.A700A|STAG2_uc004eub.3_Silent_p.A700A|STAG2_uc004euc.3_Silent_p.A700A|STAG2_uc004eud.3_Silent_p.A700A|STAG2_uc004eue.3_Silent_p.A700A	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	700					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						tttACAGTGCCCATGACCTTT	0.299000														45			12		0	0	6.40141e-05	0	0
TPM3	7170	broad.mit.edu	37	1	154164430	154164430	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:154164430C>A	uc001fec.1	-	0	180	c.65G>T	c.(64-66)cGg>cTg	p.R22L		NM_152263	NP_689476	P06753	TPM3_HUMAN	Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.	21					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TTGCTCTGCCCGATCCAGAGC	0.488000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""									128			8		0.000274275	0.00716887	0.000274275	1	0
PRDM9	56979	broad.mit.edu	37	5	23509604	23509604	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:23509604C>T	uc003jgo.3	+	2	277	c.95C>T	c.(94-96)tCc>tTc	p.S32F		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	32	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.S32T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGACATTTCCATATACTTC	0.413000										HNSCC(3;0.000094)				170			28		0	0	8.91981e-05	0	0
LRCH1	23143	broad.mit.edu	37	13	47315858	47315859	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr13:47315858_47315859GG>TT	uc001vbk.3	+	19	2403_2404	c.2167_2168GG>TT	c.(2167-2169)ggg>TTg	p.G723L	LRCH1_uc001vbj.3_Missense_Mutation_p.G688L|LRCH1_uc001vbl.4_Intron|LRCH1_uc021rjj.1_Non-coding_Transcript	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	688										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GCTGGCACTCGGGGAGAAAGCC	0.515000														339			7		0	0	6.4e-05	0	0
THSD7A	221981	broad.mit.edu	37	7	11632979	11632979	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr7:11632979G>A	uc021zzo.1	-	2	1425	c.1173C>T	c.(1171-1173)acC>acT	p.T391T	THSD7A_uc021zzn.1_Silent_p.T391T	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	391	TSP type-1 3.					integral to membrane		p.R390*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACTGCCTGATGGTTCGTGTCC	0.517000										HNSCC(18;0.044)				54			6		0	0	0.000157383	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55354372	55354373	+	Splice_Site	DNP	CG	AT	AT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:55354372_55354373CG>AT	uc002qhm.1	+	6	737	c.691_splice	c.e6+1	p.G231_splice	KIR3DL2_uc010yfk.1_Splice_Site|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Intron|KIR3DL2_uc002qhn.1_Intron	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	334					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GCTCCAAAACCGGTGAGTACAG	0.500000														205			6		0	0	6.4e-05	0	0
FOXA3	3171	broad.mit.edu	37	19	46375598	46375598	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr19:46375598C>T	uc002pdr.3	+	1	532	c.335C>T	c.(334-336)cCc>cTc	p.P112L		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	112				RPL -> AP (in Ref. 1; AAA58477).	brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TATCGGCGGCCCCTGGCACAC	0.647000														50			13		0	0	0.000308642	0	0
OR10X1	128367	broad.mit.edu	37	1	158548760	158548760	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr1:158548760C>T	uc010pin.2	-	0	930	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M310I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAGCATTTTTCATGTCCTTAT	0.438000														110			27		0	0	7.16444e-05	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816662	67816662	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:67816662G>A	uc001one.3	+	14	1917	c.1788G>A	c.(1786-1788)tgG>tgA	p.W596*	TCIRG1_uc001ong.3_Nonsense_Mutation_p.W380*|TCIRG1_uc009ysd.3_5'Flank	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	596					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	p.V595A(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TGTGTGTCTGGGCTGCCAGGG	0.627000														91			11		0	0	3.86212e-05	0	0
CENPN	55839	broad.mit.edu	37	16	81060211	81060211	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:81060211C>T	uc002ffy.4	+	8	1568	c.778C>T	c.(778-780)Cct>Tct	p.P260S	CENPN_uc002ffx.2_Missense_Mutation_p.P260S|CENPN_uc010vnl.1_Missense_Mutation_p.P226S|CENPN_uc010vnm.1_Missense_Mutation_p.P240S	NM_001100625	NP_001094095	Q96H22	CENPN_HUMAN	Homo sapiens centromere protein N (CENPN), transcript variant 1, mRNA.	260					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|large_intestine(5)|lung(4)	10						TGGAGATTATCCTCAACCACA	0.308000														157			11		0	0	0.00010058	0	0
MYO5B	4645	broad.mit.edu	37	18	47518707	47518708	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:47518707_47518708CC>AA	uc002leb.2	-	5	994_995	c.706_707GG>TT	c.(706-708)ggg>TTg	p.G236L	MYO5B_uc021ukb.1_Missense_Mutation_p.G235L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	236	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CATGTTGGCCCCGATGATGTGG	0.495000														231			8		0	0	6.4e-05	0	0
MYO1H	283446	broad.mit.edu	37	12	109882024	109882024	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr12:109882024C>G	uc010sxn.1	+	27	2783	c.2783C>G	c.(2782-2784)tCc>tGc	p.S928C	MYO1H_uc010sxo.1_Missense_Mutation_p.S119C	NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	119						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TAAGGTGTCTCCACTAGCAAT	0.463000														114			11		0	0	6.40141e-05	0	0
GOT1	2805	broad.mit.edu	37	10	101163546	101163546	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr10:101163546T>C	uc001kpr.3	-	5	936	c.728A>G	c.(727-729)tAt>tGt	p.Y243C		NM_002079	NP_002070	P17174	AATC_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA.	243					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGACACAAAATAGCGAATGGC	0.542000														49			4		0	0	1.23904e-05	0	0
PTCD2	79810	broad.mit.edu	37	5	71648498	71648498	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:71648498G>A	uc003kcb.3	+	8	869	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	PTCD2_uc011csf.1_Missense_Mutation_p.E97K|PTCD2_uc003kcc.3_Missense_Mutation_p.E135K|PTCD2_uc011csg.2_Missense_Mutation_p.E115K|PTCD2_uc011csh.2_Missense_Mutation_p.E178K|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	287										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		AAATATGTTGGAAAACCTGAT	0.363000														38			13		0	0	0.00010058	0	0
CACNG2	10369	broad.mit.edu	37	22	36960482	36960482	+	Silent	SNP	G	A	A			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr22:36960482G>A	uc003aps.2	-	3	957	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	296					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GAACCTGGAGGAAGCTGTTAT	0.612000														80			17		0	0	0.000422831	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140235762	140235762	+	Silent	SNP	C	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr5:140235762C>T	uc003lhx.2	+	0	129	c.129C>T	c.(127-129)ttC>ttT	p.F43F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.F43F|PCDHAC2_uc011dad.2_Silent_p.F43F	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	57	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCACCTTCGTGGGCCGCA	0.657000														78			8		0	0	0.000274275	0	0
FAM160A2	84067	broad.mit.edu	37	11	6235700	6235700	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:6235700T>C	uc001mck.4	-	10	2899	c.2540A>G	c.(2539-2541)aAg>aGg	p.K847R	FAM160A2_uc001mcl.4_Missense_Mutation_p.K833R	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	833					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAGTCCAACTTGCCACGGGC	0.592000														113			13		0	0	0.000151284	0	0
ZNF214	7761	broad.mit.edu	37	11	7022610	7022611	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr11:7022610_7022611GG>TT	uc009yfh.1	-	2	602_603	c.303_304CC>AA	c.(301-306)tcccag>tcAAag	p.Q102K	ZNF214_uc001mfa.2_Missense_Mutation_p.Q102K|ZNF214_uc010ray.1_Missense_Mutation_p.Q102K	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCCTGACACTGGGAACGATCTT	0.431000														405			11		0	0	6.4e-05	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874269	88874270	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:88874269_88874270delCT	uc002stc.4	-	12	3033_3034	c.2731_2732delAG	c.(2731-2733)aggfs	p.R911fs		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	911	Protein kinase.				ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ACACACGCTCCTCTCTCTCTCC	0.465													---	768	---	---	8	---					
CCDC148	130940	broad.mit.edu	37	2	159107283	159107284	+	Splice_Site	INS	-	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr2:159107283_159107284insT	uc002tzq.3	-	10	1565	c.1251_splice	c.e10+1	p.K417_splice	CCDC148_uc002tzr.3_Splice_Site_p.K265_splice|CCDC148_uc010foh.3_Splice_Site_p.K130_splice	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	417	Glu/Lys-rich.									endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGATtttttactttttttttct	0.361													---	4	---	---	2	---					
TAP2	6891	broad.mit.edu	37	6	32797702	32797707	+	Splice_Site	DEL	GATACC	-	-			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:32797702_32797707delGATACC	uc011dqf.1	-	10	1917	c.1795_splice	c.e10+1	p.D599_splice	TAP2_uc003ocb.1_Splice_Site_p.D599_splice|TAP2_uc003occ.3_Splice_Site_p.D599_splice|TAP2_uc003ocd.3_Splice_Site_p.D599_splice	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	599	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										ATTTGTAGAAGATACCTGTGTATATT	0.466													---	154	---	---	15	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	-	-	rs60664426		TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr6:42989414_42989419delGCCGGG	uc003otp.1	+	0	30_35	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	14					rRNA processing|ribosomal small subunit biogenesis	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													---	7	---	---	5	---					
KANK1	23189	broad.mit.edu	37	9	738412	738414	+	In_Frame_Del	DEL	TCA	-	-			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr9:738412_738414delTCA	uc003zgl.1	+	11	4110_4112	c.3461_3463delTCA	c.(3460-3465)gtcatc>gtc	p.I1155del	KANK1_uc003zgn.1_In_Frame_Del_p.I1155del|KANK1_uc003zgs.1_In_Frame_Del_p.I997del|KANK1_uc010mgx.1_In_Frame_Del_p.I133del|KANK1_uc010mgy.1_In_Frame_Del_p.I67del|KANK1_uc003zgt.1_In_Frame_Del_p.I67del	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	1155					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTCCGCTATGTCATCAACTTGGC	0.547													---	164	---	---	7	---					
B2M	567	broad.mit.edu	37	15	45007783	45007800	+	In_Frame_Del	DEL	GCAAGGACTGGTCTTTCT	-	-			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr15:45007783_45007800delGCAAGGACTGGTCTTTCT	uc001zuc.3	+	1	290_307	c.230_247delGCAAGGACTGGTCTTTCT	c.(229-249)agcaaggactggtctttctat>aat	p.77_83SKDWSFY>N	B2M_uc010uek.1_In_Frame_Del_p.77_83SKDWSFY>N|B2M_uc010bdx.1_Intron	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	77	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.F82V(2)|p.W80*(2)|p.Y83*(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TTGTCTTTCAGCAAGGACTGGTCTTTCTATCTCTTGTA	0.431													---	87	---	---	8	---					
HCN4	10021	broad.mit.edu	37	15	73660195	73660195	+	Frame_Shift_Del	DEL	G	-	-			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr15:73660195delG	uc002avp.3	-	0	1411	c.417delC	c.(415-417)cccfs	p.P139fs		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	139					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGTCCTCGCCGGGGGACGCGT	0.816													---	4	---	---	2	---					
C16orf58	64755	broad.mit.edu	37	16	31519172	31519172	+	Frame_Shift_Del	DEL	G	-	-			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr16:31519172delG	uc002eci.2	-	1	340	c.328delC	c.(328-330)ctafs	p.L110fs	C16orf58_uc010vfq.1_Intron	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	Homo sapiens chromosome 16 open reading frame 58 (C16orf58), mRNA.	110						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						TGGGTGGCTAGGGAGCCGGAG	0.597													---	4	---	---	2	---					
HIC1	3090	broad.mit.edu	37	17	1960405	1960407	+	In_Frame_Del	DEL	GGC	-	-			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:1960405_1960407delGGC	uc010cjy.3	+	1	478_480	c.478_480delGGC	c.(478-480)ggcdel	p.G167del	HIC1_uc002fty.4_In_Frame_Del_p.G148del|HIC1_uc002ftz.4_In_Frame_Del_p.G148del|HIC1_uc021tnn.1_In_Frame_Del_p.G148del	NM_001098202	NP_006488	Q14526	HIC1_HUMAN	Homo sapiens hypermethylated in cancer 1 (HIC1), transcript variant 2, mRNA.	167	Poly-Gly.				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		CCACCTGCGGggcggcggcggcg	0.764													---	4	---	---	2	---					
DNAH17	8632	broad.mit.edu	37	17	76522976	76522977	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr17:76522976_76522977insT	uc010dhp.2	-	22	3734_3735	c.3609_3610insA	c.(3607-3612)aaatgcfs	p.K1203fs		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AATTGCTGGCATTTCCGCCGCA	0.629													---	4	---	---	2	---					
LMAN1	3998	broad.mit.edu	37	18	57013193	57013194	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GN-A265-06A-21D-A197-08	TCGA-GN-A265-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36770274-b16e-4ccd-b0f6-ca70cc49632d	dd788ab5-5592-4cdf-9c05-2127d2cf6607	g.chr18:57013193_57013194insT	uc002lhz.3	-	7	944_945	c.912_913insA	c.(910-915)aaagagfs	p.K304fs		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	304					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGAATTCCTCTTTTTTTTTAT	0.455													---	138	---	---	7	---					
