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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TTC17	55761	broad.mit.edu	37	11	43436141	43436141	+	Splice_Site	SNP	C	C	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:43436141C>G	uc001mxi.3	+	16	2135	c.2065_splice	c.e16-1	p.P689_splice	TTC17_uc001mxh.3_Splice_Site_p.P689_splice|TTC17_uc010rfj.2_Splice_Site_p.P632_splice|TTC17_uc001mxj.3_Splice_Site_p.P459_splice	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	689							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCTTTTCAGCCTCTGACCTTT	0.383000													14	118					0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62120459	62120459	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr20:62120459G>A	uc002yfe.1	-	6	1242	c.1076C>T	c.(1075-1077)cCg>cTg	p.P359L		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	359						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GTCGATGACCGGGGAGTAGCC	0.642000													3	55					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17294398	17294398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:17294398G>A	uc002dfa.3	-	3	1112	c.1027C>T	c.(1027-1029)Cag>Tag	p.Q343*		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	343					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AACATGCGCTGCAACTGCCGA	0.582000													13	170					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4409410	4409410	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:4409410G>A	uc002mal.3	+	2	714	c.614G>A	c.(613-615)cGg>cAg	p.R205Q		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	205	Binds to CBX1 chromo shadow domain.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTTCGCCACGGAGCTGCCCG	0.597000								Chromatin Structure					31	30					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977561	107977561	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chrX:107977561C>G	uc004eoc.2	-	0	2047	c.2014G>C	c.(2014-2016)Gaa>Caa	p.E672Q		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	672						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCTTTCACTTCTTTGGCTTCT	0.498000													33	165					0	0	1	0	0
YRDC	79693	broad.mit.edu	37	1	38272777	38272777	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:38272777G>A	uc001cca.1	-	1	513	c.500C>T	c.(499-501)aCg>aTg	p.T167M	C1orf122_uc001ccb.1_5'UTR	NM_024640	NP_078916	Q86U90	YRDC_HUMAN	Homo sapiens yrdC domain containing (E. coli) (YRDC), nuclear gene encoding mitochondrial protein, mRNA.	167	YrdC-like.				negative regulation of transport	membrane|mitochondrion				lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTCACAGGCGTAAAAGGGTT	0.522000													3	46					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57581134	57581134	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:57581134G>A	uc001snd.3	+	41	7392	c.6926G>A	c.(6925-6927)cGc>cAc	p.R2309H		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2309					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCATCACGCGCCACACAGTG	0.602000													3	83					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99667831	99667831	+	Silent	SNP	C	C	A	rs112478506	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:99667831C>A	uc001kou.2	-	5	1145	c.789G>T	c.(787-789)ggG>ggT	p.G263G	CRTAC1_uc001kov.3_Silent_p.G263G|CRTAC1_uc001kot.2_Silent_p.G53G	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	263						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGAAGTTAGGCCCATTCTCAT	0.612000													3	50					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72623867	72623867	+	Silent	SNP	T	T	C			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr4:72623867T>C	uc010iif.3	-	7	875	c.780A>G	c.(778-780)caA>caG	p.Q260Q	GC_uc003hge.3_Silent_p.Q241Q|GC_uc021xpb.1_Silent_p.Q241Q	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	241	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TAGGCACTTTTTGGGCTAACT	0.388000													52	64					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163349	159163349	+	Splice_Site	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:159163349C>T	uc001ftl.2	+	4	699	c.520_splice	c.e4+1	p.G174_splice	CADM3_uc009wsx.1_Silent_p.H207H|CADM3_uc009wsy.1_Splice_Site_p.G174_splice|CADM3_uc001ftk.2_Splice_Site_p.G208_splice	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	174	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.H207H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AAGAACTCCACGGTGAGTACC	0.537000													4	42					0	0	1	0	0
SUSD5	26032	broad.mit.edu	37	3	33216454	33216454	+	Silent	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:33216454G>A	uc003cfo.1	-	3	940	c.522C>T	c.(520-522)ggC>ggT	p.G174G		NM_015551	NP_056366	O60279	SUSD5_HUMAN	Homo sapiens sushi domain containing 5 (SUSD5), mRNA.	174	Sushi.				cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCTCCCGGTGGCCCATGATGT	0.632000													6	105					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69046379	69046379	+	Silent	SNP	G	G	A	rs150877619		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr8:69046379G>A	uc003xxv.1	+	31	3879	c.3852G>A	c.(3850-3852)gcG>gcA	p.A1284A		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1284					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGCTCATGGCGGCCTTGAACC	0.502000													4	55					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31348049	31348049	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr14:31348049G>A	uc001wqr.2	+	4	352	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	COCH_uc001wqp.2_Missense_Mutation_p.R91Q|COCH_uc001wqq.4_Missense_Mutation_p.R91Q|LOC100506071_uc001wqs.3_Intron|COCH_uc001wqt.1_5'Flank	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	91	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGACCTGTACGAGTCTATAGC	0.458000													4	58					0	0	1	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739777	46739777	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:46739777T>A	uc021vgv.1	-	0	74	c.74A>T	c.(73-75)gAg>gTg	p.E25V	ATP6V1E2_uc002ruy.3_Missense_Mutation_p.E25V	NM_080653	NP_542384	Q96A05	VATE2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 (ATP6V1E2), mRNA.	25					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTGCTTTCTCATTGGCTTC	0.478000													5	57					0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr22:18844888A>G	uc002zoe.3	+	3		c.2142A>G			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GCTCACGGAAATACAGCTTCA	0.587000													3	52					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134968200	134968200	+	Missense_Mutation	SNP	C	C	T	rs143309901		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:134968200C>T	uc003eqt.3	+	14	3088	c.2713C>T	c.(2713-2715)Cgc>Tgc	p.R905C	EPHB1_uc003equ.3_Missense_Mutation_p.R466C	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	905						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCTGCTCGACCGCTCCATCCC	0.592000													4	84					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7647956	7647956	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:7647956G>A	uc001qsz.3	-	5	1269	c.1141C>T	c.(1141-1143)Cgc>Tgc	p.R381C	CD163_uc001qta.3_Missense_Mutation_p.R381C|CD163_uc009zfw.2_Missense_Mutation_p.R381C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	381	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.R381H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCAGCACAGCGGCTGCCTCCA	0.488000													7	62					0	0	1	0	0
SEC14L2	23541	broad.mit.edu	37	22	30812287	30812287	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr22:30812287G>A	uc003ahr.3	+	10	1152	c.976G>A	c.(976-978)Gag>Aag	p.E326K	SEC14L2_uc003ahq.3_Missense_Mutation_p.E326K|SEC14L2_uc011aky.2_Missense_Mutation_p.E243K|SEC14L2_uc011akx.2_Missense_Mutation_p.E272K|SEC14L2_uc003ahs.3_Missense_Mutation_p.E252K|SEC14L2_uc003aht.3_Non-coding_Transcript|SEC14L2_uc003ahu.3_Intron|SEC14L2_uc010gvv.3_Intron|SEC14L2_uc003ahv.1_Missense_Mutation_p.E150K|SEC14L2_uc010gvx.1_Missense_Mutation_p.E19K|SEC14L2_uc010gvy.1_Intron	NM_012429	NP_036561	O76054	S14L2_HUMAN	Homo sapiens SEC14-like 2 (S. cerevisiae) (SEC14L2), transcript variant 1, mRNA.	326	GOLD.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CAAGATGGGAGAGAGGCAGCG	0.537000													3	73					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79832021	79832021	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr4:79832021G>A	uc003hlk.3	+	15	2486	c.2320G>A	c.(2320-2322)Gat>Aat	p.D774N	PAQR3_uc003hlm.3_Intron|PAQR3_uc003hln.3_Intron|BMP2K_uc010ijm.2_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	774						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AGATTTTAATGATGATGATAC	0.413000													20	24					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157527453	157527453	+	Silent	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr6:157527453C>T	uc003qqp.3	+	18	5139	c.5139C>T	c.(5137-5139)gaC>gaT	p.D1713D	ARID1B_uc003qqo.3_Silent_p.D1726D|ARID1B_uc003qqn.3_Silent_p.D1766D	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1713				D -> N (in Ref. 7; AAL76077).	chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCTTGGCAGACGATTCTGGGA	0.473000													6	141					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	A	C	rs113451248		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:124857495A>C	uc001qbm.4	+	7	1632	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	458						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418000													3	67					0	0	1	0	0
AGXT2L1	64850	broad.mit.edu	37	4	109668005	109668005	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr4:109668005C>A	uc003hzc.3	-	9	1266	c.1085G>T	c.(1084-1086)gGc>gTc	p.G362V	AGXT2L1_uc010imc.3_Missense_Mutation_p.G356V|AGXT2L1_uc011cfm.2_Missense_Mutation_p.G322V|AGXT2L1_uc011cfn.2_Missense_Mutation_p.G289V|AGXT2L1_uc011cfo.2_Missense_Mutation_p.G304V	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	362					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		AAGGCCAATGCCCCTGCGAGA	0.428000													10	79					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161967994	161967994	+	Silent	SNP	G	G	A	rs34123330	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:161967994G>A	uc010pkq.2	-	5	1522	c.1098C>T	c.(1096-1098)aaC>aaT	p.N366N	OLFML2B_uc001gbu.3_Silent_p.N365N	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	365								p.N365N(4)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGGTCCGAGCGTTCAGGTCGC	0.612000													8	158					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83251221	83251221	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:83251221C>G	uc001szt.3	+	1	948	c.516C>G	c.(514-516)ttC>ttG	p.F172L	TMTC2_uc001szr.1_Missense_Mutation_p.F172L|TMTC2_uc001szs.1_Missense_Mutation_p.F172L|TMTC2_uc010suk.2_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	172						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGGGCTGGTTCCTGGGGTCAG	0.512000													21	20					0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180486695	180486695	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr5:180486695G>T	uc003mmt.3	+	10	1672	c.1441G>T	c.(1441-1443)Gcg>Tcg	p.A481S		NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Homo sapiens butyrophilin-like 9 (BTNL9), mRNA.	481	B30.2/SPRY.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCTCGGGCGCGCTCTGTGC	0.667000													3	34					0	0	1	0	0
CCNJ	54619	broad.mit.edu	37	10	97810164	97810164	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:97810164G>A	uc010qoq.2	+	2	580	c.221G>A	c.(220-222)cGc>cAc	p.R74H	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CCNJ_uc001klm.3_Missense_Mutation_p.R74H|CCNJ_uc001kln.3_Missense_Mutation_p.R74H	NM_001134375	NP_001127847	Q5T5M9	CCNJ_HUMAN	Homo sapiens cyclin J (CCNJ), transcript variant 1, mRNA.	74	Cyclin N-terminal.					nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		TTTATGGACCGCTATGACATC	0.453000													8	179					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570299	61570299	+	Silent	SNP	A	A	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:61570299A>T	uc010xeu.2	+	8	1341	c.1008A>T	c.(1006-1008)ggA>ggT	p.G336G	SERPINB2_uc002ljo.3_Silent_p.G336G|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	336					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.G336*(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCAACAAGGGACGGGCCAATT	0.478000													4	70					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63447901	63447901	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr14:63447901A>G	uc001xfx.3	-	5	682	c.631T>C	c.(631-633)Tgt>Cgt	p.C211R	KCNH5_uc001xfy.3_Missense_Mutation_p.C211R|KCNH5_uc001xfz.1_Missense_Mutation_p.C153R|KCNH5_uc001xga.3_Missense_Mutation_p.C153R	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	211					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTAAAAGCACAATAATGTAAA	0.363000													3	26					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723348	142723348	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr7:142723348T>C	uc003wcc.1	-	0	872	c.872A>G	c.(871-873)gAc>gGc	p.D291G		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D291V(2)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TTTGACTTTGTCATTCCGAAG	0.458000													6	77					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204216548	204216548	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:204216548G>T	uc001hau.3	-	12	2182	c.1865C>A	c.(1864-1866)tCt>tAt	p.S622Y	PLEKHA6_uc009xav.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	622										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGAGACCTCAGACTCGAGGTG	0.562000													15	28					0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37379473	37379473	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr5:37379473G>T	uc003jkv.3	+	0	62	c.4G>T	c.(4-6)Gag>Tag	p.E2*	WDR70_uc010iva.1_Nonsense_Mutation_p.E2*	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	2								p.M1I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCAGCCATGGAGCGCTCTGG	0.657000													18	236					0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34945807	34945807	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr17:34945807G>A	uc002hnb.3	+	13	2376	c.2060G>A	c.(2059-2061)tGt>tAt	p.C687Y	DHRS11_uc002hnd.3_5'Flank	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	Homo sapiens gametogenetin binding protein 2 (GGNBP2), mRNA.	687					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGGCCCATTTGTAGTGGCTGG	0.388000													56	70					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72223614	72223614	+	Silent	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:72223614C>T	uc002llq.3	+	1	277	c.66C>T	c.(64-66)cgC>cgT	p.R22R		NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	22					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.L20_E21insL(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGCTGGAGCGCGGCATGTTCT	0.557000													5	106					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128192655	128192655	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:128192655C>T	uc010qum.2	-	3	1435	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	C10orf90_uc001ljp.3_Missense_Mutation_p.E325K|C10orf90_uc001ljq.3_Missense_Mutation_p.E372K|C10orf90_uc009yao.2_Missense_Mutation_p.E469K|C10orf90_uc001ljs.1_Missense_Mutation_p.E325K	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	372										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TTTGCCAATTCTGTGTTTTCC	0.478000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	44					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882388	228882388	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:228882388G>A	uc002vpq.2	-	6	3229	c.3182C>T	c.(3181-3183)gCg>gTg	p.A1061V	SPHKAP_uc002vpp.2_Missense_Mutation_p.A1061V|SPHKAP_uc010zlx.1_Missense_Mutation_p.A1061V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1061						cytoplasm	protein binding	p.A1061V(3)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATAGCCCTGCGCCTGCCACAT	0.557000													9	88					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27286418	27286418	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr17:27286418C>T	uc002hdp.2	-	8	2038	c.1844G>A	c.(1843-1845)cGt>cAt	p.R615H	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.R615H|SEZ6_uc002hdq.1_Missense_Mutation_p.R490H	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	615	CUB 2.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ATCCTGCCCACGACCGTAGGG	0.622000													4	76					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16872810	16872810	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:16872810G>A	uc002neu.4	+	7	2416	c.1994G>A	c.(1993-1995)cGt>cAt	p.R665H	NWD1_uc002net.4_Missense_Mutation_p.R530H|NWD1_uc002nev.4_Missense_Mutation_p.R459H|NWD1_uc021uqg.1_Missense_Mutation_p.R530H	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	665							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGGTGGTCCGTGAGCGCTAC	0.572000													22	34					0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89307828	89307828	+	Silent	SNP	A	A	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr14:89307828A>G	uc010ath.3	+	4	653	c.519A>G	c.(517-519)acA>acG	p.T173T	TTC8_uc010atg.1_Non-coding_Transcript|TTC8_uc001xxi.3_Silent_p.T183T|TTC8_uc001xxj.3_Silent_p.T173T|TTC8_uc001xxk.3_Intron|TTC8_uc001xxl.3_Intron|TTC8_uc010ati.3_5'UTR|TTC8_uc010atj.3_Intron	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	183					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGAATTTAACAAAGTATTCCC	0.318000													6	55					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808932	18808932	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:18808932G>A	uc001bax.3	+	0	1509	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	KLHDC7A_uc009vpg.3_Missense_Mutation_p.R268H	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	486						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCTGCAGCGCCGGCTCCGG	0.662000													3	69					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18823041	18823041	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:18823041T>A	uc001ipr.2	+	10	1151	c.1091T>A	c.(1090-1092)cTt>cAt	p.L364H	CACNB2_uc001ipt.2_Missense_Mutation_p.L326H|CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.L340H|CACNB2_uc001ipu.3_Missense_Mutation_p.L336H|CACNB2_uc001ipv.3_Missense_Mutation_p.L312H|CACNB2_uc009xka.2_Missense_Mutation_p.L298H|CACNB2_uc001ipw.2_Missense_Mutation_p.L271H|CACNB2_uc001ipx.2_Missense_Mutation_p.L309H|CACNB2_uc001ipz.2_Missense_Mutation_p.L286H|CACNB2_uc001ipy.2_Missense_Mutation_p.L310H|CACNB2_uc010qco.1_Missense_Mutation_p.L278H|CACNB2_uc001iqa.2_Missense_Mutation_p.L316H|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	364				L -> V (in Ref. 3; AAD33729/AAD33730).	axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATTTTTGAACTTGCAAGAACA	0.373000													7	72					0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220116300	220116300	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:220116300C>A	uc002vkt.1	-	2	420	c.362G>T	c.(361-363)cGg>cTg	p.R121L	TUBA4A_uc010zkz.1_Missense_Mutation_p.R106L|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	121					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGCGGATCCGATCCAGCAC	0.498000													3	96					0	0	1	0	0
TEX10	54881	broad.mit.edu	37	9	103092361	103092361	+	Silent	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr9:103092361C>T	uc004bas.3	-	5	1556	c.1341G>A	c.(1339-1341)gcG>gcA	p.A447A	TEX10_uc011lvf.2_Silent_p.A286A|TEX10_uc011lvg.2_Silent_p.A450A|TEX10_uc011lvh.1_Silent_p.A382A	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	447						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding	p.N446N(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GCAAAGTTGACGCATTTGCCA	0.388000													5	93					0	0	1	0	0
TXNL1	9352	broad.mit.edu	37	18	54291518	54291518	+	Splice_Site	SNP	C	C	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:54291518C>A	uc002lgg.3	-	3	968	c.369_splice	c.e3+1	p.Y123_splice	TXNL1_uc010xdz.2_Splice_Site|TXNL1_uc002lgh.3_Splice_Site|TXNL1_uc002lgi.3_Splice_Site_p.Y123_splice|TXNL1_uc002lgj.1_Splice_Site_p.Y123_splice	NM_004786	NP_004777	O43396	TXNL1_HUMAN	Homo sapiens thioredoxin-like 1 (TXNL1), transcript variant 1, mRNA.	123	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		AGTCTACATACATAGCCTTTT	0.338000													4	114					0	0	1	0	0
DUSP8	1850	broad.mit.edu	37	11	1586987	1586987	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:1586987G>A	uc001lts.2	-	1	198	c.70C>T	c.(70-72)Cct>Tct	p.P24S	MOB2_uc001ltq.2_Intron	NM_004420	NP_004411	Q13202	DUS8_HUMAN	Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA.	24	Rhodanese.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GGCCCCCCAGGCCCGCCCCGC	0.662000													31	203					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76573710	76573710	+	Silent	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:76573710C>T	uc002fex.1	+	18	3463	c.3324C>T	c.(3322-3324)caC>caT	p.H1108H	CNTNAP4_uc002feu.1_Silent_p.H1104H|CNTNAP4_uc002fev.1_Silent_p.H969H|CNTNAP4_uc010chb.1_Silent_p.H1032H	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1105	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AACTTCACCACATAATGATTA	0.353000													5	82					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904173	21904173	+	RNA	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr17:21904173C>T	uc002gza.2	+	0		c.112C>T								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ggggaagcagcgtggcatccc	0.677000													5	209					0	0	1	0	0
SOX14	8403	broad.mit.edu	37	3	137483867	137483867	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:137483867C>T	uc003erm.2	+	0	734	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C		NM_004189	NP_004180	O95416	SOX14_HUMAN	Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.	81					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CCGACCTCGGCGCAAGCCCAA	0.632000													4	43					0	0	1	0	0
MPV17	4358	broad.mit.edu	37	2	27535939	27535939	+	Silent	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:27535939C>T	uc002rjr.3	-	1	155	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MPV17_uc002rjs.3_Silent_p.Q36Q|MPV17_uc002rjt.3_Intron	NM_002437	NP_002428	P39210	MPV17_HUMAN	Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), nuclear gene encoding mitochondrial protein, mRNA.	36					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCACCAGCTGCTGTGAGA	0.597000													9	111					0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96117582	96117582	+	Silent	SNP	T	T	C			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:96117582T>C	uc001pfx.4	-	3	544	c.330A>G	c.(328-330)gaA>gaG	p.E110E	CCDC82_uc009ywp.3_Silent_p.E110E|CCDC82_uc009ywr.3_Silent_p.E110E|CCDC82_uc009yws.3_Silent_p.E110E	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	Homo sapiens coiled-coil domain containing 82 (CCDC82), mRNA.	110							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCGTTTCTTCTTCATATGTTG	0.338000													9	91					0	0	1	0	0
CLEC1A	51267	broad.mit.edu	37	12	10224015	10224015	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:10224015G>A	uc001qxb.3	-	5	844	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C	CLEC1A_uc001qxd.3_Missense_Mutation_p.R211C|CLEC1A_uc010sgx.2_Missense_Mutation_p.R152C	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	254	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CAGACACAACGCTTCAATTCT	0.483000													11	181					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89352043	89352043	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:89352043C>G	uc002fmx.1	-	8	1368	c.907G>C	c.(907-909)Gaa>Caa	p.E303Q	ANKRD11_uc002fmy.1_Missense_Mutation_p.E303Q|ANKRD11_uc002fnc.1_Missense_Mutation_p.E303Q|ANKRD11_uc002fnb.1_Missense_Mutation_p.E260Q	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	303						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGTGCGTCTTCCTCTTCTGAG	0.567000													4	53					0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44271798	44271798	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:44271798T>G	uc002oxl.3	-	7	1577	c.1181A>C	c.(1180-1182)aAa>aCa	p.K394T		NM_002250	NP_002241	O15554	KCNN4_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA.	394					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GTCAATCTGTTTCTCCAGGGC	0.617000													4	138					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131832692	131832692	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr7:131832692A>T	uc003vra.4	-	26	5060	c.4831T>A	c.(4831-4833)Tcc>Acc	p.S1611T	PLXNA4_uc003vqz.4_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1611						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAGACGGTGGAGTTGTTCACT	0.542000													7	87					0	0	1	0	0
EGR4	1961	broad.mit.edu	37	2	73518810	73518810	+	Silent	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:73518810G>A	uc010yrj.2	-	1	1620	c.1545C>T	c.(1543-1545)tgC>tgT	p.C515C	EGR4_uc010yrk.1_Silent_p.C514C	NM_001965	NP_001956	B7ZKU3	B7ZKU3_HUMAN	Homo sapiens early growth response 4 (EGR4), mRNA.	411						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCAGATGCGGCACTGGAAGG	0.662000													3	96					0	0	1	0	0
CGB8	94115	broad.mit.edu	37	19	49558229	49558229	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:49558229T>C	uc002pmd.3	-	1	1272	c.52A>G	c.(52-54)Aca>Gca	p.T18A	CGB8_uc002pmc.3_Intron|CGB8_uc002pme.3_Missense_Mutation_p.T18A	NM_033142	NP_149133	P01233	CGHB_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 7 (CGB7), mRNA.	18			T -> A.		apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	p.T18A(1)		pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	GATGCCCATGTCCCGCCCATG	0.657000													4	164					0	0	1	0	0
AK311167	0	broad.mit.edu	37	9	69067929	69067929	+	Splice_Site	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr9:69067929G>A	uc010mnq.2	+	2		c.526_splice	c.e2+1							Homo sapiens cDNA, FLJ18209.																		TGATATGTTGGTGAGTCAGTT	0.279000													5	16					0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10802138	10802138	+	Missense_Mutation	SNP	G	G	T	rs149734152		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr6:10802138G>T	uc021ylk.1	-	7	1100	c.818C>A	c.(817-819)cCg>cAg	p.P273Q	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Missense_Mutation_p.P273Q|MAK_uc021yll.1_Missense_Mutation_p.P273Q|MAK_uc010jov.2_Non-coding_Transcript|MAK_uc021ylm.1_Non-coding_Transcript	NM_001242957	NP_001229886	P20794	MAK_HUMAN	Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA.	273	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	p.R272P(2)|p.R272*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GCTTGCTGTCGGTCGTTTCTT	0.383000											OREG0017187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	99					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190554476	190554476	+	Nonsense_Mutation	SNP	T	T	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:190554476T>G	uc002uqw.2	+	2	913	c.825T>G	c.(823-825)taT>taG	p.Y275*	ANKAR_uc002uqu.3_Intron|ANKAR_uc002uqv.1_Nonsense_Mutation_p.Y275*	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	275						integral to membrane	binding	p.S275fs*59(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTATAAAATATAATCAGGATT	0.274000													4	55					0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24923472	24923472	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr15:24923472A>T	uc001ywo.3	+	0	2932	c.2458A>T	c.(2458-2460)Att>Ttt	p.I820F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	820					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CAAGCCTGCCATTGACACCAG	0.502000													63	96					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33461117	33461117	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr5:33461117G>A	uc003jhy.3	+	11	1656	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	TARS_uc010iup.1_Missense_Mutation_p.R395Q|TARS_uc011coc.2_Missense_Mutation_p.R475Q|TARS_uc003jhz.3_Missense_Mutation_p.R350Q|TARS_uc011cod.2_Missense_Mutation_p.R333Q	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	454					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.R454R(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GGACTCACCCGGGTACGAAGA	0.498000													7	88					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764410	138764410	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr7:138764410G>T	uc003vun.3	-	3	1665	c.1277C>A	c.(1276-1278)cCt>cAt	p.P426H	ZC3HAV1_uc003vuo.3_5'Flank|ZC3HAV1_uc003vup.3_Missense_Mutation_p.P426H	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	426					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATTAAAAAGAGGGCCAGGCTG	0.448000													7	57					0	0	1	0	0
LAMTOR2	28956	broad.mit.edu	37	1	156025148	156025148	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:156025148G>A	uc001fnb.3	+	1	327	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	UBQLN4_uc001fna.3_5'Flank|UBQLN4_uc010pgx.2_5'Flank|LAMTOR2_uc010pgy.1_Missense_Mutation_p.A55T	NM_014017	NP_054736	Q9Y2Q5	LTOR2_HUMAN	Homo sapiens late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 (LAMTOR2), transcript variant 1, mRNA.	55					cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex|lysosomal membrane				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						CATCTGGGCCGCCTACGACCG	0.567000													3	129					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124132349	124132349	+	Silent	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:124132349C>T	uc003ehg.3	+	13	2500	c.2373C>T	c.(2371-2373)gaC>gaT	p.D791D	KALRN_uc010hrv.1_Silent_p.D791D|KALRN_uc003ehf.1_Silent_p.D791D|KALRN_uc011bjy.1_Silent_p.D791D|KALRN_uc003ehh.1_Silent_p.D137D	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	791					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAATGAAGACTTGCTTCGGC	0.532000													5	25					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	36982191	36982191	+	Missense_Mutation	SNP	G	G	A	rs138478832		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:36982191G>A	uc002rpl.3	+	4	705	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	VIT_uc002rpk.3_Missense_Mutation_p.V135I|VIT_uc010ynf.2_Missense_Mutation_p.V128I|VIT_uc002rpm.3_Missense_Mutation_p.V135I|VIT_uc010ezv.3_Missense_Mutation_p.V135I|VIT_uc010ezw.3_Missense_Mutation_p.V135I	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	135						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ATCCTTTATCGTCTTAGGTAT	0.443000													4	33					0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44166061	44166061	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:44166061A>T	uc001rnu.3	+	4	516	c.386A>T	c.(385-387)gAc>gTc	p.D129V	IRAK4_uc001rnt.3_Missense_Mutation_p.D129V|IRAK4_uc001rnx.3_Missense_Mutation_p.D5V|IRAK4_uc001rny.3_Missense_Mutation_p.D5V|IRAK4_uc010sky.1_Missense_Mutation_p.D5V|IRAK4_uc001rnv.3_Missense_Mutation_p.D5V|IRAK4_uc001rnw.3_Missense_Mutation_p.D5V	NM_001114182	NP_001138730	Q9NWZ3	IRAK4_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 4 (IRAK4), transcript variant 1, mRNA.	129					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		CCTTTCTGTGACAAAGACAGG	0.373000													3	58					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113853983	113853983	+	Silent	SNP	G	G	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:113853983G>T	uc010rxb.2	+	4	767	c.534G>T	c.(532-534)tcG>tcT	p.S178S	HTR3A_uc010rxa.2_Silent_p.S178S|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.S157S	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	172					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	AGAACTGCTCGCTGACCTTCA	0.587000													15	217					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133353557	133353557	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:133353557A>T	uc001ukz.1	-	19	4401	c.3842T>A	c.(3841-3843)gTg>gAg	p.V1281E	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.V1281E	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	1281	Gln-rich.			V -> A (in Ref. 2; AAL93149).	intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TTGGTTTCCCACGGGCTGTTT	0.627000													3	38					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167367303	167367303	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:167367303G>A	uc001gec.3	+	11	1372	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H	POU2F1_uc001gee.3_Missense_Mutation_p.R401H|POU2F1_uc010plh.2_Missense_Mutation_p.R338H|POU2F1_uc001ged.3_Missense_Mutation_p.R376H|POU2F1_uc001gef.3_Missense_Mutation_p.R390H|POU2F1_uc001geg.3_Missense_Mutation_p.R276H|POU2F1_uc009wvg.1_5'Flank	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	378					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGCTTGAGCCGTAGGAGGAAG	0.463000													4	45					0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3843002	3843002	+	Silent	SNP	T	T	C			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr20:3843002T>C	uc002wjw.4	+	4	739	c.567T>C	c.(565-567)ccT>ccC	p.P189P	MAVS_uc002wjx.4_Silent_p.P48P|MAVS_uc002wjy.4_5'UTR	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	189					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCTCAGCCCTCTGACCTCCA	0.587000													3	58					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67787493	67787495	+	In_Frame_Del	DEL	TAC	-	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:67787493_67787495delTAC	uc001ddu.3	+	2	925_927	c.285_287delTAC	c.(283-288)ggtaca>gga	p.T97del	IL12RB2_uc010oqi.2_In_Frame_Del_p.T97del|IL12RB2_uc010oqj.2_In_Frame_Del_p.T97del|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_In_Frame_Del_p.T97del|IL12RB2_uc010oqm.2_In_Frame_Del_p.T97del|IL12RB2_uc010oqn.2_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.	97					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TTCCCCTTGGTACAACCTTGTTT	0.404													8	214	---	---	---	---					
MTERFD2	130916	broad.mit.edu	37	2	242039085	242039085	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:242039085delC	uc002wan.1	-	0	826	c.333delG	c.(331-333)gggfs	p.G111fs	MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Frame_Shift_Del_p.G82fs	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	Homo sapiens MTERF domain containing 2 (MTERFD2), transcript variant 1, mRNA.	82										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CCACAGGAGTCCCCTGCTTCT	0.488													22	52	---	---	---	---					
WHSC1L1	54904	broad.mit.edu	37	8	38146134	38146135	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr8:38146134_38146135insT	uc003xli.3	-	18	3889_3890	c.3371_3372insA	c.(3370-3372)cacfs	p.H1124fs	WHSC1L1_uc011lbm.2_Frame_Shift_Ins_p.H1124fs|WHSC1L1_uc010lwe.3_Frame_Shift_Ins_p.H1075fs	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	1124	AWS.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			ACACCTGCGGGTGGCATTCATA	0.525			T	NUP98	AML								8	113	---	---	---	---					
OR52N5	390075	broad.mit.edu	37	11	5799663	5799664	+	Frame_Shift_Ins	INS	-	AC	AC			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:5799663_5799664insAC	uc010qzn.2	-	0	234_235	c.201_202insGT	c.(199-204)atgtatfs	p.M67fs	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAAAAAAAATACATCGGATGAT	0.450													8	120	---	---	---	---					
CAT	847	broad.mit.edu	37	11	34475464	34475464	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:34475464delC	uc001mvm.3	+	5	791	c.702delC	c.(700-702)ttcfs	p.F234fs	CAT_uc009ykc.1_Non-coding_Transcript	NM_001752	NP_001743	P04040	CATA_HUMAN	Homo sapiens catalase (CAT), mRNA.	234					UV protection|hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process	peroxisomal matrix|peroxisomal membrane	NADP binding|catalase activity|heme binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ATTGCAAATTCCATTATAAGG	0.443													8	74	---	---	---	---					
ARGLU1	55082	broad.mit.edu	37	13	107219953	107219955	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr13:107219953_107219955delCTC	uc001vqk.4	-	0	560_562	c.313_315delGAG	c.(313-315)gagdel	p.E105del		NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN	Homo sapiens arginine and glutamate rich 1 (ARGLU1), mRNA.	105	Glu-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CCGCTTTCTTCTCCTCCTCCTCT	0.714													7	192	---	---	---	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													2	4	---	---	---	---					
ZC3H18	124245	broad.mit.edu	37	16	88694459	88694459	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:88694459delC	uc010voz.2	+	15	2673	c.2473delC	c.(2473-2475)cccfs	p.P825fs	ZC3H18_uc002fky.3_Frame_Shift_Del_p.P801fs|ZC3H18_uc010chw.3_Intron|ZC3H18_uc002fkz.3_Frame_Shift_Del_p.P71fs	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	801						nucleus	nucleic acid binding|zinc ion binding	p.Q804fs*15(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCAGCAGGCACCCCCCGGGCA	0.612													7	285	---	---	---	---					
PBX4	80714	broad.mit.edu	37	19	19729418	19729418	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:19729418delG	uc002nmy.3	-	0	308	c.21delC	c.(19-21)cccfs	p.P7fs	PBX4_uc010xra.2_5'UTR|PBX4_uc010xqz.2_Non-coding_Transcript	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 4 (PBX4), transcript variant 1, mRNA.	7							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						gcgatggcgcggggcgcggcg	0.756													2	4	---	---	---	---					
MBTPS2	51360	broad.mit.edu	37	X	21857869	21857871	+	In_Frame_Del	DEL	TGG	-	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chrX:21857869_21857871delTGG	uc004dae.3	+	0	214_216	c.17_19delTGG	c.(16-21)ctggtg>ctg	p.V11del	MBTPS2_uc004dab.2_In_Frame_Del_p.V11del	NM_015884	NP_056968	O43462	MBTP2_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 2 (MBTPS2), mRNA.	11					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCGGTGTCGCTGGTGGTGGTGGT	0.685													3	4	---	---	---	---					
