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
SYCP3	50511	broad.mit.edu	37	12	102125409	102125409	+	Silent	SNP	T	C	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr12:102125409T>C	uc001tir.3	-	6	628	c.489A>G	c.(487-489)caA>caG	p.Q163Q	SYCP3_uc001tiq.3_Silent_p.Q163Q|SYCP3_uc001tis.3_Silent_p.Q163Q	NM_001177949	NP_710161	Q8IZU3	SYCP3_HUMAN	Homo sapiens synaptonemal complex protein 3 (SYCP3), transcript variant 1, mRNA.	163	Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CAATTCTAGATTGTTGAAGAA	0.264000														14			19		0	0	0.069288	0	0
ENDOD1	23052	broad.mit.edu	37	11	94862157	94862157	+	Missense_Mutation	SNP	C	G	G	rs61734147		TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr11:94862157C>G	uc001pfh.3	+	1	1035	c.917C>G	c.(916-918)tCt>tGt	p.S306C		NM_015036	NP_055851	O94919	ENDD1_HUMAN	Homo sapiens endonuclease domain containing 1 (ENDOD1), mRNA.	306						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding	p.S306C(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				AGTCCCCTTTCTAGCACCAGG	0.448000														58			43		0	0	0.039052	0	0
KRT4	3851	broad.mit.edu	37	12	53205646	53205646	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr12:53205646C>G	uc001saz.3	-	1	800	c.800G>C	c.(799-801)aGt>aCt	p.S267T		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	193						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCTCAGGACACTGAGGTAGGT	0.537000														71			41		0	0	0.092188	0	0
DFNA5	1687	broad.mit.edu	37	7	24745817	24745817	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr7:24745817A>T	uc010kus.1	-	7	1257	c.1169T>A	c.(1168-1170)gTc>gAc	p.V390D	DFNA5_uc003sxa.1_Missense_Mutation_p.V390D|DFNA5_uc010kut.1_Missense_Mutation_p.V226D	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	390					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GAGGGCACTGACCAAGAAGTA	0.537000														61			80		0	0	0.048971	0	0
KIAA1109	84162	broad.mit.edu	37	4	123254840	123254840	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr4:123254840A>G	uc003ieh.3	+	65	11567	c.11522A>G	c.(11521-11523)aAg>aGg	p.K3841R	KIAA1109_uc003iem.3_Missense_Mutation_p.K232R	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3841	Poly-Lys.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAAAGAAGAAGTTTCAAACT	0.348000														20			21		0	0	0.062417	0	0
GATC	283459	broad.mit.edu	37	12	120884511	120884511	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr12:120884511C>T	uc010szi.2	+	1	176	c.133C>T	c.(133-135)Ctt>Ttt	p.L45F	TRIAP1_uc001tyg.3_5'Flank|GATC_uc021rev.1_Non-coding_Transcript	NM_176818	NP_789788	O43716	GATCL_HUMAN	Homo sapiens glutamyl-tRNA(Gln) amidotransferase, subunit C homolog (bacterial) (GATC), transcript variant 1, mRNA.	45					regulation of translational fidelity					breast(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGTCTAGCGCTTGTGGACTT	0.682000														72			29		0	0	0.045705	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144469	11144469	+	Silent	SNP	C	A	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr19:11144469C>A	uc010dxp.3	+	27	4161	c.3801C>A	c.(3799-3801)ggC>ggA	p.G1267G	SMARCA4_uc010dxo.3_Silent_p.G1267G|SMARCA4_uc002mqf.4_Silent_p.G1267G|SMARCA4_uc010dxq.3_Intron|SMARCA4_uc010dxr.3_Intron|SMARCA4_uc002mqj.4_Intron|SMARCA4_uc010dxs.3_Intron|SMARCA4_uc010dxt.1_Intron|SMARCA4_uc002mqh.4_Intron|SMARCA4_uc002mqi.1_Intron	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1267					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				cgggcagcggcagtgccagct	0.577000			"""F, N, Mis"""		NSCLC									47			6		0.00448238	0.00508003	0.047766	1	0
POTEC	388468	broad.mit.edu	37	18	14513780	14513780	+	Nonsense_Mutation	SNP	C	A	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr18:14513780C>A	uc010dln.3	-	9	1868	c.1414G>T	c.(1414-1416)Gaa>Taa	p.E472*	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	472										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCATTTTGTTCGTCACTAGAA	0.373000														23			27		9.17885e-22	1.14176e-21	0.059317	1	0
RPSA	3921	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr19:24010294C>G	uc002nrn.3	+	3	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	111	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	p.Q111E(12)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTTCACTAACCAGATCCAGGC	0.567000														47			3		0	0	0.004672	0	0
COX10	1352	broad.mit.edu	37	17	14005508	14005508	+	Silent	SNP	T	A	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr17:14005508T>A	uc002gof.4	+	3	777	c.573T>A	c.(571-573)ctT>ctA	p.L191L	COX10_uc010vvs.2_5'UTR|COX10_uc010vvt.2_Intron	NM_001303	NP_001294	Q12887	COX10_HUMAN	Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.	191					heme O biosynthetic process|heme a biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GTTTCCTGCTTACTTCTGTTG	0.473000														90			171		0	0	0.048971	0	0
abParts	0	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	G	G	rs1054157	by1000genomes	TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr22:22663086T>G	uc021wml.1	+	30		c.2444T>G			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AGCTGCCACATAAGTTGTCCT	0.299000														20			3		0	0	0.004672	0	0
FAT1	2195	broad.mit.edu	37	4	187540602	187540602	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr4:187540602C>T	uc003izf.3	-	9	7326	c.7138G>A	c.(7138-7140)Gtt>Att	p.V2380I		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2380	Cadherin 21.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.D2379D(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGGTCGGTAACGTCCACCGTG	0.502000										HNSCC(5;0.00058)				30			34		0	0	0.045705	0	0
GPR133	283383	broad.mit.edu	37	12	131590407	131590407	+	Silent	SNP	C	A	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr12:131590407C>A	uc010tbm.2	+	17	2539	c.1980C>A	c.(1978-1980)ggC>ggA	p.G660G	GPR133_uc001uit.4_Silent_p.G628G|GPR133_uc009zyo.3_Intron|GPR133_uc001uiv.1_Silent_p.G147G|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	628					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCGAGCCGGGCACGGTGAGTG	0.612000														13			16		6.31663e-08	7.49181e-08	0.024245	1	0
ANP32D	23519	broad.mit.edu	37	12	48866497	48866497	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr12:48866497C>A	uc010slt.2	+	0	50	c.50C>A	c.(49-51)tCc>tAc	p.S17Y		NM_012404	NP_036536	O95626	AN32D_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member D (ANP32D), mRNA.	17								p.S17S(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AGGACGCCCTCCGATGTGAAA	0.448000														103			115		7.7863e-71	1.00532e-70	0.048971	1	0
SPRR1B	6699	broad.mit.edu	37	1	153004965	153004965	+	Silent	SNP	C	T	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr1:153004965C>T	uc001fba.3	+	1	208	c.144C>T	c.(142-144)ccC>ccT	p.P48P	SPRR1B_uc021ozp.1_Silent_p.P48P	NM_003125	NP_003116	P22528	SPR1B_HUMAN	Homo sapiens small proline-rich protein 1B (SPRR1B), mRNA.	48	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCTGAGCCCTGCCACCCCA	0.627000														132			88		0	0	0.048971	0	0
CBR4	84869	broad.mit.edu	37	4	169931208	169931208	+	Silent	SNP	G	T	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr4:169931208G>T	uc003iry.3	-	0	261	c.33C>A	c.(31-33)tcC>tcA	p.S11S	CBR4_uc011cjy.2_Non-coding_Transcript|CBR4_uc003irz.2_Silent_p.S11S	NM_032783	NP_116172	Q8N4T8	CBR4_HUMAN	Homo sapiens carbonyl reductase 4 (CBR4), mRNA.	11					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		CAATGCCTCGGGAGCCTCCAA	0.602000											OREG0016397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			16		4.35082e-09	5.22098e-09	0.055883	1	0
NIPAL2	79815	broad.mit.edu	37	8	99215364	99215364	+	Silent	SNP	A	T	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr8:99215364A>T	uc003yim.1	-	7	1108	c.852T>A	c.(850-852)atT>atA	p.I284I	NIPAL2_uc011lgw.1_Silent_p.I80I|NIPAL2_uc003yil.1_Silent_p.I284I			Q9H841	NPAL2_HUMAN	Homo sapiens NIPA-like domain containing 2 (NIPAL2), mRNA.	284						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						TTGTAAAGAAAATATGATTAA	0.408000														51			45		0	0	0.048971	0	0
ATP1A3	478	broad.mit.edu	37	19	42492245	42492245	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr19:42492245G>A	uc002osh.3	-	3	354	c.200C>T	c.(199-201)cCt>cTt	p.P67L	ATP1A3_uc010xwf.2_Missense_Mutation_p.P78L|ATP1A3_uc010xwg.2_Missense_Mutation_p.P37L|ATP1A3_uc002osg.3_Missense_Mutation_p.P67L|ATP1A3_uc010xwh.2_Missense_Mutation_p.P80L			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	67					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GAGTGCGTTAGGCCCATCCCG	0.637000														103			14		0	0	0.020292	0	0
ZNF814	730051	broad.mit.edu	37	19	58386285	58386285	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr19:58386285G>A	uc002qqo.2	-	2	745	c.473C>T	c.(472-474)gCa>gTa	p.A158V	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	158				A -> V (in Ref. 1; BAH13293).	regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACACCTCTTTGCAAACAACGC	0.488000														12			6		0	0	0.029380	0	0
HLA-DPB2	3116	broad.mit.edu	37	6	33095748	33095748	+	RNA	SNP	C	G	G	rs151127887	by1000genomes	TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr6:33095748C>G	uc003ocw.1	+	2		c.518C>G								Homo sapiens major histocompatibility complex, class II, DP beta 2 (pseudogene) (HLA-DPB2), non-coding RNA.																		TGTCCACCAACCTGATCCGTA	0.547000														79			4		0	0	0.009096	0	0
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	G	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr19:40367841T>G	uc002omp.4	-	28	13127	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4373	TIL 10.					extracellular region	protein binding	p.A4373A(4)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627000														21			6		0	0	0.028581	0	0
RGNEF	64283	broad.mit.edu	37	5	73136427	73136427	+	Silent	SNP	T	C	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr5:73136427T>C	uc010izf.3	+	10	1445	c.1269T>C	c.(1267-1269)agT>agC	p.S423S	RGNEF_uc011csq.2_Silent_p.S423S|RGNEF_uc003kcy.1_Silent_p.S423S|RGNEF_uc021yam.1_Silent_p.S423S|RGNEF_uc011csr.2_Silent_p.S110S	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	423					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		CAGAAACCAGTCCCAGTGTGT	0.493000														27			24		0	0	0.091800	0	0
KIAA2018	205717	broad.mit.edu	37	3	113376680	113376680	+	Silent	SNP	G	T	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr3:113376680G>T	uc003eam.3	-	6	4260	c.3849C>A	c.(3847-3849)ggC>ggA	p.G1283G	KIAA2018_uc003eal.3_Silent_p.G1227G	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1283					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GAGGTTGACTGCCATAGGAGC	0.468000														69			118		1.81142e-54	2.30956e-54	0.048971	1	0
MACF1	23499	broad.mit.edu	37	1	39797681	39797681	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr1:39797681G>C	uc021olw.1	+	0	741	c.741G>C	c.(739-741)caG>caC	p.Q247H	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1812	Actin-binding.|CH 2.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCATAAGGCAGCTTCAGACAG	0.463000														56			38		0	0	0.064281	0	0
NEB	4703	broad.mit.edu	37	2	152507333	152507333	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr2:152507333C>T	uc021vrb.1	-	50	7011	c.6982G>A	c.(6982-6984)Gac>Aac	p.D2328N	NEB_uc002txu.3_Missense_Mutation_p.D2328N|NEB_uc021vrc.1_Missense_Mutation_p.D2328N|NEB_uc010fnx.3_Missense_Mutation_p.D2328N|NEB_uc021vrd.1_Missense_Mutation_p.D2328N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2328					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGTTTTGGGTCATCTTGCAGA	0.413000														118			125		0	0	0.048971	0	0
BEST4	266675	broad.mit.edu	37	1	45250593	45250593	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr1:45250593A>G	uc001cmm.3	-	6	1026	c.977T>C	c.(976-978)aTa>aCa	p.I326T		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	Homo sapiens bestrophin 4 (BEST4), mRNA.	326						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GTTGCGGTCTATGAGCTGATT	0.562000														99			10		0	0	0.069234	0	0
FAM187B	148109	broad.mit.edu	37	19	35718874	35718874	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr19:35718874C>T	uc002nyk.1	-	0	755	c.710G>A	c.(709-711)gGa>gAa	p.G237E		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	237						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GTACATGGATCCTAAGGGACA	0.507000														21			12		0	0	0.093190	0	0
TTLL3	26140	broad.mit.edu	37	3	9877081	9877081	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr3:9877081G>A	uc003btg.3	+	12	2703	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	TTLL3_uc003btd.4_3'UTR|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_3'UTR|TTLL3_uc003bth.4_3'UTR|TTLL3_uc011atj.2_3'UTR|TTLL3_uc003btj.4_3'UTR|TTLL3_uc003bti.4_3'UTR	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	743					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AAAGAAACAAGTGAAGTATTT	0.567000														169			93		0	0	0.048971	0	0
UBE4A	9354	broad.mit.edu	37	11	118243839	118243839	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr11:118243839G>A	uc001psw.3	+	6	895	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	UBE4A_uc001psv.3_Missense_Mutation_p.E261K	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	254					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGAGGTCATTGAAGCCTTGAT	0.368000														36			35		0	0	0.086207	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540794	40540794	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr19:40540794G>C	uc002omu.3	-	4	2037	c.1972C>G	c.(1972-1974)Caa>Gaa	p.Q658E	ZNF780B_uc002omv.3_Missense_Mutation_p.Q510E	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTCTGATGTTGAACAAGGTTT	0.388000														149			91		0	0	0.048971	0	0
DNAH8	1769	broad.mit.edu	37	6	38704982	38704982	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr6:38704982A>T	uc021yzh.1	+	5	1011	c.902A>T	c.(901-903)gAa>gTa	p.E301V	DNAH8_uc003ooe.2_Missense_Mutation_p.E84V	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAGAATCTGAAAAACATATT	0.313000														44			40		0	0	0.045515	0	0
PABPC4	8761	broad.mit.edu	37	1	40029530	40029530	+	Silent	SNP	C	T	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr1:40029530C>T	uc001cdl.2	-	10	2416	c.1518G>A	c.(1516-1518)ctG>ctA	p.L506L	PABPC4_uc010oiv.1_Silent_p.L490L|PABPC4_uc001cdm.2_Intron	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	490					RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCTGTCAGTCAGCCCTTGCT	0.557000														47			39		0	0	0.045515	0	0
GINS2	51659	broad.mit.edu	37	16	85715212	85715212	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr16:85715212T>C	uc002fja.3	-	2	365	c.281A>G	c.(280-282)gAa>gGa	p.E94G	GINS2_uc002fjb.2_Missense_Mutation_p.E94G	NM_016095	NP_057179	Q9Y248	PSF2_HUMAN	Homo sapiens GINS complex subunit 2 (Psf2 homolog) (GINS2), mRNA.	94					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						CTTCGTAAGTTCCATGTAGTA	0.448000														45			51		0	0	0.048971	0	0
SCARF2	91179	broad.mit.edu	37	22	20791897	20791897	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr22:20791897G>T	uc002zsj.2	-	0	250	c.145C>A	c.(145-147)Cgc>Agc	p.R49S	SCARF2_uc002zsk.2_Missense_Mutation_p.R49S	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA.	49					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TTGCGGCCGCGAGGGTTCAGT	0.741000														9			6		8.12818e-05	9.31545e-05	0.029380	1	0
ZNF687	57592	broad.mit.edu	37	1	151259373	151259373	+	Silent	SNP	C	G	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr1:151259373C>G	uc001exq.3	+	1	704	c.606C>G	c.(604-606)gcC>gcG	p.A202A	ZNF687_uc001exp.1_Silent_p.A211A|ZNF687_uc009wmo.3_Silent_p.A202A|ZNF687_uc009wmp.3_Silent_p.A202A	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	202	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTGAGCTGGCCCAGGAGAATG	0.652000														58			49		0	0	0.048971	0	0
APOLD1	81575	broad.mit.edu	37	12	12940182	12940182	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr12:12940182C>T	uc001rau.4	+	1	520	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	DDX47_uc001rav.3_Intron|APOLD1_uc001raw.4_Missense_Mutation_p.R115W	NM_001130415	NP_001123887	Q96LR9	APLD1_HUMAN	Homo sapiens apolipoprotein L domain containing 1 (APOLD1), transcript variant 1, mRNA.	146					angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		CTGCAACTCCCGGGAGCTGCG	0.682000														62			22		0	0	0.055883	0	0
STXBP3	6814	broad.mit.edu	37	1	109302625	109302625	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr1:109302625T>G	uc001dvy.3	+	5	431	c.356T>G	c.(355-357)tTt>tGt	p.F119C	STXBP3_uc021oqz.1_Missense_Mutation_p.F119C	NM_007269	NP_009200	O00186	STXB3_HUMAN	Homo sapiens syntaxin binding protein 3 (STXBP3), mRNA.	119	Mediates interaction with DOC2B (By similarity).				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		GATAATCTCTTTAACAAAATT	0.289000														91			70		0	0	0.048971	0	0
CUTC	51076	broad.mit.edu	37	10	101507060	101507060	+	Missense_Mutation	SNP	A	C	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr10:101507060A>C	uc001kqd.4	+	5	634	c.486A>C	c.(484-486)ttA>ttC	p.L162F	CUTC_uc010qpk.2_Missense_Mutation_p.L162F|CUTC_uc001kqe.4_Non-coding_Transcript	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN	Homo sapiens cutC copper transporter homolog (E. coli) (CUTC), mRNA.	162					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		AGACCCTCTTAACCTTGGGAT	0.438000														111			33		0	0	0.064281	0	0
C9orf91	203197	broad.mit.edu	37	9	117400851	117400851	+	Silent	SNP	T	C	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr9:117400851T>C	uc004bjd.4	+	7	911	c.694T>C	c.(694-696)Ttg>Ctg	p.L232L	C9orf91_uc004bje.4_Silent_p.L211L|C9orf91_uc004bjf.4_Silent_p.L131L	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN	Homo sapiens chromosome 9 open reading frame 91 (C9orf91), mRNA.	232						integral to membrane				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						ATTGAGCCAGTTGTGTGTTGT	0.562000														80			64		0	0	0.048971	0	0
MCMBP	79892	broad.mit.edu	37	10	121598084	121598084	+	Silent	SNP	A	G	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr10:121598084A>G	uc001ler.2	-	11	1675	c.1377T>C	c.(1375-1377)gaT>gaC	p.D459D	MCMBP_uc001leq.1_Silent_p.D284D|MCMBP_uc001les.1_Silent_p.D284D	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	Homo sapiens minichromosome maintenance complex binding protein (MCMBP), transcript variant 1, mRNA.	459					DNA-dependent DNA replication|S phase of mitotic cell cycle|cell division|mitosis|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GGAGAGTCTCATCGATTACAA	0.483000														41			24		0	0	0.108266	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							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)		TCTTAACTTACTGTTGTGAAA	0.418000														38			3		0	0	0.004672	0	0
HLA-DPB2	3116	broad.mit.edu	37	6	33095801	33095801	+	RNA	SNP	C	T	T	rs114799619	byFrequency	TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr6:33095801C>T	uc003ocw.1	+	2		c.571C>T								Homo sapiens major histocompatibility complex, class II, DP beta 2 (pseudogene) (HLA-DPB2), non-coding RNA.																		CTGGAAATGACCCCCCAGCAG	0.567000														56			5		0	0	0.014758	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957850	152957850	+	Silent	SNP	C	T	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr1:152957850C>T	uc021ozn.1	+	0	144	c.144C>T	c.(142-144)ccC>ccT	p.P48P	SPRR1A_uc009wnu.2_Silent_p.P48P|SPRR1A_uc001faw.3_Silent_p.P48P	NM_005987	NP_005978	P35321	SPR1A_HUMAN	Homo sapiens small proline-rich protein 1A (SPRR1A), transcript variant 2, mRNA.	48	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCTGAGCCCTGCCACCCCA	0.642000														187			7		0	0	0.028581	0	0
ZNF264	9422	broad.mit.edu	37	19	57724137	57724137	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr19:57724137C>G	uc002qob.3	+	3	2086	c.1672C>G	c.(1672-1674)Caa>Gaa	p.Q558E		NM_003417	NP_003408	O43296	ZN264_HUMAN	Homo sapiens zinc finger protein 264 (ZNF264), mRNA.	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CACTCAGCATCAAAGGATGCA	0.453000														99			4		0	0	0.014758	0	0
MNAT1	4331	broad.mit.edu	37	14	61434959	61434959	+	Silent	SNP	T	C	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr14:61434959T>C	uc001xfd.3	+	7	944	c.822T>C	c.(820-822)caT>caC	p.H274H	MNAT1_uc001xfe.3_Silent_p.H232H	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.	274					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)		ATTTAAACCATGTCAGAGCTG	0.388000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)						49			25		0	0	0.034045	0	0
abParts	0	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	G	G	rs1054158		TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr22:22663087A>G	uc021wml.1	+	30		c.2445A>G			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GCTGCCACATAAGTTGTCCTT	0.303000														20			3		0	0	0.004672	0	0
MAMLD1	10046	broad.mit.edu	37	X	149638972	149638972	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chrX:149638972C>T	uc011mxu.2	+	2	1362	c.1052C>T	c.(1051-1053)tCg>tTg	p.S351L	MAMLD1_uc011mxt.1_Missense_Mutation_p.S338L|MAMLD1_uc004fee.2_Missense_Mutation_p.S376L|MAMLD1_uc011mxv.2_Missense_Mutation_p.S351L|MAMLD1_uc011mxw.2_Missense_Mutation_p.S303L	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	376	Poly-Pro.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S303L(1)|p.S376L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AATACCTTGTCGGGTAGCACT	0.617000														116			9		0	0	0.080935	0	0
MYEOV2	150678	broad.mit.edu	37	2	241073371	241073371	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr2:241073371C>G	uc002vyu.1	-	1	208	c.208G>C	c.(208-210)Gtt>Ctt	p.V70L	MYEOV2_uc010zof.1_Missense_Mutation_p.V39L	NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.	39								p.V70F(2)		breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTGCATGAACGGCCTTTTCA	0.483000														80			51		0	0	0.048971	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173832042	173832042	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr2:173832042G>A	uc002uhv.4	+	9	1061	c.874G>A	c.(874-876)Gat>Aat	p.D292N	RAPGEF4_uc002uhu.2_Missense_Mutation_p.D292N|RAPGEF4_uc002uhw.4_Missense_Mutation_p.D148N|RAPGEF4_uc010zec.1_Missense_Mutation_p.D139N|RAPGEF4_uc010zed.1_Missense_Mutation_p.D121N|RAPGEF4_uc010zee.1_Missense_Mutation_p.D139N|RAPGEF4_uc010fqo.2_Missense_Mutation_p.D121N|RAPGEF4_uc010zef.1_Missense_Mutation_p.D72N|RAPGEF4_uc010zeg.1_Missense_Mutation_p.D119N|RAPGEF4_uc010fqp.1_Missense_Mutation_p.D72N|RAPGEF4_uc010zeh.1_Missense_Mutation_p.D72N	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	292					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ATTTCTGGATGATGAGCACGA	0.527000														14			16		0	0	0.028581	0	0
ZNF836	162962	broad.mit.edu	37	19	52660096	52660096	+	Silent	SNP	G	A	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr19:52660096G>A	uc010ydj.2	-	4	1362	c.840C>T	c.(838-840)ggC>ggT	p.G280G	ZNF836_uc010ydi.2_Silent_p.G280G	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	Homo sapiens zinc finger protein 836 (ZNF836), mRNA.	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGAAGATCTTGCCACATACAC	0.413000														58			38		0	0	0.111260	0	0
TERF2	7014	broad.mit.edu	37	16	69402345	69402345	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr16:69402345C>G	uc002exd.3	-	5	881	c.755G>C	c.(754-756)aGt>aCt	p.S252T		NM_005652	NP_005643	Q15554	TERF2_HUMAN	Homo sapiens telomeric repeat binding factor 2 (TERF2), mRNA.	252					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CTTCCCTGTACTTGAGGCAGC	0.478000														78			50		0	0	0.048971	0	0
TNS1	7145	broad.mit.edu	37	2	218712984	218712984	+	Silent	SNP	G	C	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr2:218712984G>C	uc002vgt.2	-	16	2279	c.1881C>G	c.(1879-1881)ccC>ccG	p.P627P	TNS1_uc002vgr.2_Silent_p.P627P|TNS1_uc002vgs.2_Silent_p.P627P|TNS1_uc010zjv.1_Silent_p.P627P|TNS1_uc010fvj.1_Silent_p.P695P|TNS1_uc010fvk.1_Silent_p.P752P|TNS1_uc010fvi.1_Silent_p.P314P	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	627						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGGCAGCTGGGGTTCAGCTT	0.652000														37			34		0	0	0.059317	0	0
abParts	0	broad.mit.edu	37	22	22661564	22661564	+	RNA	SNP	C	G	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr22:22661564C>G	uc021wml.1	+	29		c.2373C>G			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TCAGACCATCCCGCTCTGTTA	0.453000														36			33		0	0	0.059317	0	0
REG1P	5969	broad.mit.edu	37	2	79364397	79364397	+	RNA	SNP	G	A	A	rs3819317	by1000genomes	TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr2:79364397G>A	uc002soa.1	-	2		c.213C>T			REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript					Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds.																		TAGTAGCAGTGGGAGCCTTAG	0.542000														46			3		0	0	0.004672	0	0
REG1P	5969	broad.mit.edu	37	2	79364374	79364374	+	RNA	SNP	C	G	G	rs11678299	by1000genomes	TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr2:79364374C>G	uc002soa.1	-	2		c.236G>C			REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript					Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds.																		AGGTCTCATGCTCTTCATTAA	0.572000														47			3		0	0	0.009096	0	0
NUDT6	11162	broad.mit.edu	37	4	123843660	123843660	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr4:123843660G>A	uc003iew.3	-	0	102	c.68C>T	c.(67-69)tCg>tTg	p.S23L	SPATA5_uc003iey.3_5'Flank|SPATA5_uc003iez.4_5'Flank|NUDT6_uc003iex.3_Intron	NM_007083	NP_009014	P53370	NUDT6_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 6 (NUDT6), transcript variant 1, mRNA.	23						mitochondrion|nucleus	growth factor activity|hydrolase activity			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						GTAACCCGCCGAAGGCCCGGG	0.677000														29			5		0	0	0.014758	0	0
SGK223	157285	broad.mit.edu	37	8	8235103	8235103	+	Silent	SNP	A	T	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr8:8235103A>T	uc003wsh.4	-	1	816	c.816T>A	c.(814-816)acT>acA	p.T272T		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	272							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGGAACCTGCAGTCTGGGAGG	0.677000														11			19		0	0	0.055883	0	0
FLJ00322	0	broad.mit.edu	37	16	15023266	15023266	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr16:15023266C>G	uc010uzk.2	+	5	1111	c.835C>G	c.(835-837)Ctg>Gtg	p.L279V	NPIP_uc002dcx.4_Non-coding_Transcript					SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1;																		CGAGGAGCCCCTGACGCTGGC	0.701000														70			4		0	0	0.009096	0	0
MCAM	4162	broad.mit.edu	37	11	119183001	119183001	+	Missense_Mutation	SNP	A	C	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr11:119183001A>C	uc001pwf.3	-	7	1028	c.999T>G	c.(997-999)agT>agG	p.S333R	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA.	333					anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTGTGGTTCACTCAGCAGCG	0.622000														59			32		0	0	0.059317	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449852	85449852	+	Silent	SNP	G	T	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr12:85449852G>T	uc001tac.3	+	7	1392	c.1281G>T	c.(1279-1281)gtG>gtT	p.V427V	LRRIQ1_uc021rbo.1_Silent_p.V305V|LRRIQ1_uc001taa.1_Silent_p.V402V	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	427										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAAATCTAGTGGATGAAAATT	0.294000														192			26		2.85442e-18	3.50784e-18	0.045705	1	0
NISCH	11188	broad.mit.edu	37	3	52526307	52526307	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr3:52526307C>A	uc003ded.4	+	20	4458	c.4324C>A	c.(4324-4326)Ctc>Atc	p.L1442I	NISCH_uc003dee.4_Missense_Mutation_p.L931I|NISCH_uc003deg.1_Intron	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1442					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		AGGTCATGACCTCATGGGCAG	0.657000														254			112		3.42828e-54	4.31709e-54	0.048971	1	0
FUCA1	2517	broad.mit.edu	37	1	24192102	24192102	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr1:24192102T>C	uc001bie.3	-	1	486	c.403A>G	c.(403-405)Acg>Gcg	p.T135A	FUCA1_uc009vqt.2_Non-coding_Transcript|FUCA1_uc010oed.1_Non-coding_Transcript	NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	135					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		TGCTTTGTCGTCAAAACTACA	0.488000														99			25		0	0	0.034045	0	0
HLA-DPB2	3116	broad.mit.edu	37	6	33095836	33095836	+	RNA	SNP	G	A	A	rs114264975	by1000genomes	TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr6:33095836G>A	uc003ocw.1	+	2		c.606G>A								Homo sapiens major histocompatibility complex, class II, DP beta 2 (pseudogene) (HLA-DPB2), non-coding RNA.																		CTGCCAAGTGGAGCACCCCAG	0.582000														49			4		0	0	0.009096	0	0
C1orf54	79630	broad.mit.edu	37	1	150248209	150248212	+	Splice_Site	DEL	GTGA	-	-			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr1:150248209_150248212delGTGA	uc001euc.3	+	4	252	c.189_splice	c.e4+1	p.L63_splice	C1orf54_uc001eud.3_Splice_Site_p.L63_splice|C1orf54_uc001eue.3_Splice_Site_p.L63_splice	NM_024579	NP_078855	Q8WWF1	CA054_HUMAN	Homo sapiens chromosome 1 open reading frame 54 (C1orf54), mRNA.	63						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGACAGGCTGGTGAGTGAACTCTA	0.407													---	59	---	---	17	---					
LTBP1	4052	broad.mit.edu	37	2	33412000	33412000	+	Frame_Shift_Del	DEL	G	-	-			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr2:33412000delG	uc021vft.1	+	5	1302	c.1279delG	c.(1279-1281)ggafs	p.G427fs	LTBP1_uc002rou.3_Frame_Shift_Del_p.G101fs|LTBP1_uc002rov.3_Frame_Shift_Del_p.G101fs|LTBP1_uc010ymz.2_Frame_Shift_Del_p.G101fs|LTBP1_uc010yna.2_Frame_Shift_Del_p.G101fs	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	427	EGF-like 2.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAATTTCACAGGAAAACTTTG	0.473													---	37	---	---	20	---					
BCLAF1	9774	broad.mit.edu	37	6	136582550	136582550	+	Frame_Shift_Del	DEL	T	-	-	rs146041690		TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr6:136582550delT	uc003qgx.1	-	11	2863	c.2610delA	c.(2608-2610)caafs	p.Q870fs	BCLAF1_uc011edb.1_Frame_Shift_Del_p.Q149fs|BCLAF1_uc003qgy.1_Frame_Shift_Del_p.Q819fs|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Frame_Shift_Del_p.Q868fs|BCLAF1_uc003qgw.1_Frame_Shift_Del_p.Q697fs	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	870					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTCTGCCACGTTGAAAAGTAC	0.418													---	510	---	---	103	---					
REPIN1	29803	broad.mit.edu	37	7	150068863	150068864	+	Frame_Shift_Ins	INS	-	A	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr7:150068863_150068864insA	uc010lpr.1	+	2	897_898	c.704_705insA	c.(703-705)atafs	p.I235fs	REPIN1_uc003whd.2_Frame_Shift_Ins_p.I167fs|REPIN1_uc010lpq.1_Frame_Shift_Ins_p.I178fs|REPIN1_uc003whc.2_Frame_Shift_Ins_p.I178fs|REPIN1_uc003whe.2_Frame_Shift_Ins_p.I178fs	NM_001099695	NP_055189	Q9BWE0	REPI1_HUMAN	Homo sapiens replication initiator 1 (REPIN1), transcript variant 4, mRNA.	178					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	p.P235H(1)		cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGGCCCTTCATATGCGGCAACT	0.658													---	30	---	---	10	---					
CSPP1	79848	broad.mit.edu	37	8	68070755	68070755	+	Frame_Shift_Del	DEL	G	-	-			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr8:68070755delG	uc003xxi.3	+	19	2436	c.2405delG	c.(2404-2406)cggfs	p.R802fs	CSPP1_uc003xxg.1_Frame_Shift_Del_p.R794fs|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Frame_Shift_Del_p.R767fs|CSPP1_uc003xxk.3_Frame_Shift_Del_p.R422fs	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	802	Glu-rich.					centrosome|microtubule|spindle		p.R802W(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GAAGAAAGACGGCTTGCAGAA	0.388													---	34	---	---	13	---					
LIPA	3988	broad.mit.edu	37	10	90974746	90974746	+	Frame_Shift_Del	DEL	G	-	-			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr10:90974746delG	uc001kgc.4	-	8	1335	c.1045delC	c.(1045-1047)cttfs	p.L349fs	LIPA_uc001kgb.4_Frame_Shift_Del_p.L291fs|LIPA_uc010qnf.2_Frame_Shift_Del_p.L152fs|LIPA_uc001kga.4_Frame_Shift_Del_p.L347fs|LIPA_uc009xtq.3_Frame_Shift_Del_p.L347fs	NM_001127605	NP_001121077	P38571	LICH_HUMAN	Homo sapiens lipase A, lysosomal acid, cholesterol esterase (LIPA), transcript variant 1, mRNA.	347					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		ACATCTGCAAGCCAGTCGTGA	0.493													---	95	---	---	63	---					
LOC644189	644189	broad.mit.edu	37	19	36913799	36913800	+	Splice_Site	INS	-	A	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr19:36913799_36913800insA	uc002odz.1	+	1		c.1724_splice	c.e1+1							Homo sapiens acyl-CoA thioesterase 4 pseudogene (LOC644189), non-coding RNA.																		TCTTTGTCATTAAAAAAAAAAA	0.450													---	6	---	---	3	---					
HNF4A	3172	broad.mit.edu	37	20	43052773	43052775	+	In_Frame_Del	DEL	GCT	-	-			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr20:43052773_43052775delGCT	uc002xma.3	+	7	1097_1099	c.1008_1010delGCT	c.(1006-1011)gagctg>gag	p.L341del	HNF4A_uc002xlt.3_In_Frame_Del_p.L319del|HNF4A_uc002xlu.3_In_Frame_Del_p.L319del|HNF4A_uc002xlv.3_In_Frame_Del_p.L319del|HNF4A_uc002xly.3_In_Frame_Del_p.L341del|HNF4A_uc010ggq.3_In_Frame_Del_p.L334del|HNF4A_uc002xlz.3_In_Frame_Del_p.L341del	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	341					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCTTTGGAGAGCTGCTGCTGCTG	0.576													---	67	---	---	7	---					
MED15	51586	broad.mit.edu	37	22	20918916	20918918	+	In_Frame_Del	DEL	CAG	-	-			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr22:20918916_20918918delCAG	uc002zsp.3	+	5	711_713	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_uc002zsn.1_In_Frame_Del_p.Q137del|MED15_uc002zso.2_In_Frame_Del_p.Q147del|MED15_uc002zsq.3_In_Frame_Del_p.Q218del|MED15_uc010gso.3_In_Frame_Del_p.Q218del|MED15_uc002zsr.3_In_Frame_Del_p.Q192del|MED15_uc011ahs.2_In_Frame_Del_p.Q192del|MED15_uc011aht.1_In_Frame_Del_p.Q192del|MED15_uc002zss.3_In_Frame_Del_p.Q137del|MED15_uc011ahu.2_5'Flank	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	218	Poly-Gln.			Missing (in Ref. 4; CAG30423).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	28	---	---	9	---					
