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
KRT84	3890	broad.mit.edu	37	12	52779179	52779179	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:52779179C>A	uc001sah.1	-	0	239	c.191G>T	c.(190-192)cGg>cTg	p.R64L		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	64	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCTGCTATCCGGGGTGAGTA	0.597000													3	61					1	1	1	1	0
SCD	6319	broad.mit.edu	37	10	102112184	102112184	+	Silent	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:102112184C>T	uc001kqy.3	+	2	862	c.372C>T	c.(370-372)agC>agT	p.S124S		NM_005063	NP_005054	O00767	ACOD_HUMAN	Homo sapiens stearoyl-CoA desaturase (delta-9-desaturase) (SCD), mRNA.	124					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		GTCTGTGGAGCCACCGCTCTT	0.522000													67	119					0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52863046	52863046	+	Missense_Mutation	SNP	C	C	T	rs140943956	byFrequency	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:52863046C>T	uc001sal.4	-	8	1543	c.1495G>A	c.(1495-1497)Ggt>Agt	p.G499S		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	499	Tail.				cytoskeleton organization	keratin filament	structural molecule activity	p.G499S(2)|p.G498G(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CCGCTGGCACCGCCATAGCCA	0.612000													7	30					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76813014	76813014	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:76813014C>A	uc004ecp.4	-	29	6839	c.6607G>T	c.(6607-6609)Gag>Tag	p.E2203*	ATRX_uc004ecq.4_Nonsense_Mutation_p.E2165*|ATRX_uc004eco.4_Nonsense_Mutation_p.E1988*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2203	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCAGTAAGCTCATTCATAGTA	0.393000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						47	57					8.04919e-23	8.61404e-23	1	1	0
EPB41L3	23136	broad.mit.edu	37	18	5397173	5397173	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr18:5397173C>G	uc002kmt.1	-	17	2811	c.2725G>C	c.(2725-2727)Gtc>Ctc	p.V909L	EPB41L3_uc010wzh.1_Missense_Mutation_p.V740L|EPB41L3_uc002kmu.1_Missense_Mutation_p.V687L|EPB41L3_uc010dkq.1_Missense_Mutation_p.V578L|EPB41L3_uc002kms.1_Missense_Mutation_p.V144L|EPB41L3_uc010wze.1_Missense_Mutation_p.V214L|EPB41L3_uc010wzf.1_Missense_Mutation_p.V206L|EPB41L3_uc010wzg.1_Missense_Mutation_p.V181L|EPB41L3_uc010dkr.2_Missense_Mutation_p.V301L	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	909	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCTTTAGCGACCTCCTCCCCT	0.567000													7	110					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													3	37					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854628	18854628	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:18854628C>T	uc021qvx.1	-	7	1138	c.947G>A	c.(946-948)cGt>cAt	p.R316H	PLCZ1_uc001rdv.4_Missense_Mutation_p.R212H|PLCZ1_uc001rdw.4_Missense_Mutation_p.R57H|PLCZ1_uc001rdu.1_Missense_Mutation_p.R57H|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	316					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CACCTTACCACGCTTATCAGA	0.413000													4	19					0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21936464	21936464	+	RNA	SNP	C	C	T	rs8025772	by1000genomes	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:21936464C>T	uc010tzj.1	-	0		c.4276G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		GTTATGCAGACCATTTCTTTA	0.328000													4	13					0	0	1	0	0
LACTB2	51110	broad.mit.edu	37	8	71581352	71581352	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr8:71581352C>G	uc003xyp.3	-	0	96	c.4G>C	c.(4-6)Gct>Cct	p.A2P	XKR9_uc003xyq.3_5'Flank|XKR9_uc010lzd.3_5'Flank|XKR9_uc010lze.3_5'Flank	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	Homo sapiens lactamase, beta 2 (LACTB2), mRNA.	2							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AGTACAGCAGCCATTCCCGCC	0.642000											OREG0018822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	29					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106992514	106992514	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:106992514A>G	uc003prh.3	+	9	4796	c.3884A>G	c.(3883-3885)gAc>gGc	p.D1295G	AIM1_uc003pri.3_Missense_Mutation_p.D99G	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1295	Beta/gamma crystallin 'Greek key' 6.						sugar binding	p.R1294T(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GAATACAGGGACTGGAAAGCC	0.418000													4	67					0	0	1	0	0
FAM57B	83723	broad.mit.edu	37	16	30037991	30037991	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:30037991T>C	uc002dvt.3	-	2	721	c.383A>G	c.(382-384)aAg>aGg	p.K128R	BOLA2_uc010bzb.1_Intron	NM_031478	NP_113666	Q71RH2	FA57B_HUMAN	Homo sapiens family with sequence similarity 57, member B (FAM57B), mRNA.	128	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GAGGAACTCCTTGTGCAGGTA	0.677000													18	40					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65296819	65296819	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:65296819C>G	uc002sdl.4	+	1	455	c.241C>G	c.(241-243)Cca>Gca	p.P81A	CEP68_uc002sdj.2_Missense_Mutation_p.P81A|CEP68_uc010yqb.1_Missense_Mutation_p.P81A|CEP68_uc002sdk.4_Missense_Mutation_p.P81A|CEP68_uc010yqc.2_Missense_Mutation_p.P81A|CEP68_uc010yqd.1_Missense_Mutation_p.P81A	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	81					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGCCCACCAGCCACAGGCCAG	0.632000													9	53					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100696423	100696423	+	Silent	SNP	G	G	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr7:100696423G>C	uc003uxp.1	+	9	13313	c.13260G>C	c.(13258-13260)gtG>gtC	p.V4420V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4420						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGAGAGAGGTGAAACGGTGAG	0.567000													7	26					0	0	1	0	0
GNAO1	2775	broad.mit.edu	37	16	56226231	56226231	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:56226231C>G	uc002eit.4	+	0	981	c.84C>G	c.(82-84)atC>atG	p.I28M	GNAO1_uc002eiu.4_Missense_Mutation_p.I28M|LOC283856_uc002eis.1_5'Flank	NM_138736	NP_620073	P09471	GNAO_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 2, mRNA.	28					G-protein signaling, coupled to cAMP nucleotide second messenger|dopamine receptor signaling pathway|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AGGATGGCATCAGCGCCGCCA	0.637000													29	37					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25261592	25261592	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr20:25261592C>G	uc002wup.3	+	10	1356	c.1247C>G	c.(1246-1248)gCc>gGc	p.A416G		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	416					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CAGCACGTGGCCGCGCTGTTT	0.647000													23	151					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111966210	111966210	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:111966210T>A	uc001eba.3	-	4	494	c.438A>T	c.(436-438)agA>agT	p.R146S	OVGP1_uc001eaz.3_Missense_Mutation_p.R108S|OVGP1_uc010owb.2_5'UTR|OVGP1_uc010owc.1_Missense_Mutation_p.R136S	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	146					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TGGGGCTGCCTCTTAGTCCAG	0.403000													17	49					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100532549	100532549	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr4:100532549T>C	uc011cej.2	+	13	2022	c.2009T>C	c.(2008-2010)cTa>cCa	p.L670P	MTTP_uc003hvc.4_Missense_Mutation_p.L643P	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	643					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TCTGGCATTCTAAGGAGAAGT	0.433000													7	156					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20648161	20648161	+	Splice_Site	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:20648161A>G	uc002dhm.1	-	9	1266	c.1198_splice	c.e9-1	p.V400_splice	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Splice_Site_p.V400_splice	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	400					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTCATCAATGACCTGTAGCAA	0.527000													22	45					0	0	1	0	0
IFIT5	24138	broad.mit.edu	37	10	91178137	91178137	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:91178137A>G	uc010qnh.2	+	1	1412	c.1181A>G	c.(1180-1182)aAt>aGt	p.N394S	IFIT5_uc010qng.1_Missense_Mutation_p.N346S	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 5 (IFIT5), mRNA.	394							binding			endometrium(1)|large_intestine(4)|lung(4)	9						AAATCAGAAAATACTGCCATC	0.423000													3	53					0	0	1	0	0
SLC39A13	91252	broad.mit.edu	37	11	47434972	47434972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr11:47434972G>A	uc009ylq.3	+	4	735	c.559G>A	c.(559-561)Gct>Act	p.A187T	SLC39A13_uc001nfd.3_Missense_Mutation_p.A187T|SLC39A13_uc001nfe.1_Non-coding_Transcript|SLC39A13_uc001nff.4_Missense_Mutation_p.A187T	NM_001128225	NP_001121697	Q96H72	S39AD_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 13 (SLC39A13), transcript variant 1, mRNA.	187	Poly-Ala.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		AGACCCCACTGCTGCTGCCGC	0.657000													13	31					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20990739	20990739	+	Silent	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:20990739C>T	uc010vbe.2	-	49	7989	c.7989G>A	c.(7987-7989)acG>acA	p.T2663T	DNAH3_uc010vbd.2_Silent_p.T98T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2663	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TATTCAGGAGCGTCTTGAAGG	0.478000													6	87					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83863326	83863326	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:83863326C>G	uc011dyy.2	+	30	6459	c.6199C>G	c.(6199-6201)Ctc>Gtc	p.L2067V	DOPEY1_uc003pjs.1_Missense_Mutation_p.L2076V|DOPEY1_uc010kbl.1_Missense_Mutation_p.L2067V|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2076					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGTGCCCTACCTCAGAAATCA	0.313000													6	62					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6828446	6828446	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr19:6828446C>T	uc002mfu.1	+	10	1137	c.1040C>T	c.(1039-1041)aCg>aTg	p.T347M	VAV1_uc010xjh.1_Missense_Mutation_p.T315M|VAV1_uc010dva.1_Missense_Mutation_p.T347M|VAV1_uc002mfv.1_Missense_Mutation_p.T292M	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	347	DH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.T347M(2)|p.T347T(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTGAAACACACGCAGGAGGCG	0.622000													5	56					0	0	1	0	0
MDM2	4193	broad.mit.edu	37	12	69229630	69229630	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:69229630G>C	uc021rad.1	+	7	859	c.385G>C	c.(385-387)Gaa>Caa	p.E129Q	MDM2_uc001sui.3_Missense_Mutation_p.E236Q|MDM2_uc009zqx.3_Missense_Mutation_p.E181Q|MDM2_uc009zqy.1_Missense_Mutation_p.E225Q|MDM2_uc021rae.1_Intron|MDM2_uc001sun.4_Missense_Mutation_p.E55Q|MDM2_uc009zra.3_Missense_Mutation_p.E55Q|MDM2_uc021raf.1_5'UTR|MDM2_uc009zrc.3_Intron|MDM2_uc009zrd.3_5'UTR|MDM2_uc009zre.3_Intron|MDM2_uc001suo.3_Missense_Mutation_p.E30Q|MDM2_uc009zrf.3_Intron|MDM2_uc009zrg.3_Intron|MDM2_uc009zrh.3_Missense_Mutation_p.E30Q|MDM2_uc021rag.1_Non-coding_Transcript|MDM2_uc021rah.1_Missense_Mutation_p.E200Q|MDM2_uc021rai.1_5'UTR|MDM2_uc021raj.1_Intron			Q00987	MDM2_HUMAN	Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.	230					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|cellular response to hypoxia|establishment of protein localization|interspecies interaction between organisms|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGGTGTAAGTGAACATTCAGG	0.363000			A		"""sarcoma, glioma, colorectal, other"""								4	112					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57834617	57834617	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr4:57834617C>G	uc003hck.3	-	3	1655	c.1580G>C	c.(1579-1581)aGa>aCa	p.R527T		NM_032313	NP_115689	Q8NC60	CD014_HUMAN	Homo sapiens nitric oxide associated 1 (NOA1), mRNA.	527							GTP binding										CACAAAAGTTCTTGGAACAAT	0.328000													4	69					0	0	1	0	0
PPP1CB	5500	broad.mit.edu	37	2	29016792	29016792	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:29016792A>T	uc002rmg.3	+	7	968	c.808A>T	c.(808-810)Aat>Tat	p.N270Y	PPP1CB_uc010ymj.2_Missense_Mutation_p.N242Y|PPP1CB_uc010yml.2_Missense_Mutation_p.N242Y|PPP1CB_uc002rmh.3_Missense_Mutation_p.N270Y|SPDYA_uc002rmi.3_5'UTR	NM_206876	NP_996759	P62140	PP1B_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, beta isozyme (PPP1CB), transcript variant 3, mRNA.	270					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|nucleolus	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TTCAGCCCCAAATTACTGTGG	0.348000													14	39					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080096	70080096	+	Silent	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr4:70080096G>A	uc003heh.3	-	0	354	c.345C>T	c.(343-345)atC>atT	p.I115I	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	115					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E114K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATTCCCACAGGATTTCTTGTT	0.299000													7	22					0	0	1	0	0
TFCP2	7024	broad.mit.edu	37	12	51497961	51497961	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:51497961C>G	uc001rxw.3	-	8	1664	c.943G>C	c.(943-945)Gag>Cag	p.E315Q	TFCP2_uc001rxv.2_Missense_Mutation_p.E315Q|TFCP2_uc009zlx.2_Missense_Mutation_p.E264Q|TFCP2_uc009zly.1_Missense_Mutation_p.E217Q	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	315	DNA-binding.|Poly-Pro.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GGGGGTGGCTCTGGCTGGTGG	0.418000													6	135					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			62	32					0	0	1	0	0
PCMT1	5110	broad.mit.edu	37	6	150111138	150111138	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:150111138A>G	uc003qna.3	+	3	448	c.415A>G	c.(415-417)Aaa>Gaa	p.K139E	PCMT1_uc003qnb.3_Missense_Mutation_p.K139E|PCMT1_uc003qne.3_Missense_Mutation_p.K139E|PCMT1_uc011eeg.2_Missense_Mutation_p.K104E|PCMT1_uc003qnd.3_Intron|PCMT1_uc003qnf.3_Intron	NM_001252053	NP_001238982			Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase (PCMT1), transcript variant 6, mRNA.											kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		TGAAGGAGCTAAAGCTCTTGA	0.378000													40	73					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153315567	153315567	+	Splice_Site	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:153315567T>C	uc001fbo.3	-	5	537	c.472_splice	c.e5+1	p.G158_splice	PGLYRP4_uc001fbp.3_Splice_Site_p.G154_splice	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	158					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTGTTACCTTTCTTAGTGC	0.478000													19	25					0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31668779	31668779	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:31668779G>A	uc003nvy.2	-	3	362	c.283C>T	c.(283-285)Ccg>Tcg	p.P95S	ABHD16A_uc003nvx.2_5'UTR|ABHD16A_uc011dny.2_Missense_Mutation_p.P62S|ABHD16A_uc010jtc.2_5'UTR|ABHD16A_uc011dnz.2_5'UTR|ABHD16A_uc011doa.2_5'UTR	NM_021160	NP_066983	O95870	ABHGA_HUMAN	Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA.	95						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						TGAGAAAACGGCACCACTTTG	0.537000													12	61					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161128598	161128598	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr5:161128598C>T	uc003lyu.2	+	8	1519	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	GABRA6_uc003lyv.2_Missense_Mutation_p.A165V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	394					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCACGAGAGCGCCCATCTTA	0.473000										TCGA Ovarian(5;0.080)			16	55					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65296821	65296821	+	Silent	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:65296821A>G	uc002sdl.4	+	1	457	c.243A>G	c.(241-243)ccA>ccG	p.P81P	CEP68_uc002sdj.2_Silent_p.P81P|CEP68_uc010yqb.1_Silent_p.P81P|CEP68_uc002sdk.4_Silent_p.P81P|CEP68_uc010yqc.2_Silent_p.P81P|CEP68_uc010yqd.1_Silent_p.P81P	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	81					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCCACCAGCCACAGGCCAGTG	0.632000													10	53					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115803413	115803413	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr5:115803413G>C	uc003krx.4	-	18	2520	c.1811C>G	c.(1810-1812)aCc>aGc	p.T604S	SEMA6A_uc010jck.3_Missense_Mutation_p.T587S|SEMA6A_uc003krv.4_Missense_Mutation_p.T14S|SEMA6A_uc003krw.4_Intron|SEMA6A_uc010jcj.3_Missense_Mutation_p.T131S	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	587					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	p.L604L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ATCTGATGTGGTTGTGCTGGG	0.522000													13	26					0	0	1	0	0
CGB8	94115	broad.mit.edu	37	19	49557632	49557632	+	Silent	SNP	G	G	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr19:49557632G>T	uc002pmd.3	-	2	1634	c.414C>A	c.(412-414)tcC>tcA	p.S138S	CGB8_uc002pmc.3_Intron|CGB8_uc002pme.3_Silent_p.S138S	NM_033142	NP_149133	P01233	CGHB_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 7 (CGB7), mRNA.	138					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.D137A(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)	TTGAGGAAGAGGAGGCCTGGA	0.637000													3	61					0.00024832	0.000252459	1	1	0
FAM75C2	645961	broad.mit.edu	37	9	90746257	90746257	+	Silent	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr9:90746257T>C	uc011lti.2	-	3	1724	c.1695A>G	c.(1693-1695)agA>agG	p.R565R		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	565																	TCTCTGTGCGTCTTAATAAAT	0.522000													14	99					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771775	143771775	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr7:143771775G>A	uc011ktx.2	+	0	463	c.463G>A	c.(463-465)Gcc>Acc	p.A155T		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AGTCTTATTGGCCCTTGTCCA	0.458000													6	138					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40899974	40899974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr7:40899974G>A	uc022acd.1	+	14	1336	c.1312G>A	c.(1312-1314)Ggg>Agg	p.G438R	C7orf10_uc003thn.2_Missense_Mutation_p.G412R|C7orf10_uc003tho.2_Missense_Mutation_p.G364R|C7orf10_uc003thp.2_Non-coding_Transcript	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	412							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CCCGCTGCTCGGGCAGCACAC	0.567000													31	140					0	0	1	0	0
PA2G4	5036	broad.mit.edu	37	12	56501319	56501319	+	Silent	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:56501319A>G	uc001sjm.3	+	4	827	c.408A>G	c.(406-408)acA>acG	p.T136T		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	136					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CCCAAGTAACAGGGAGGAAAG	0.453000													20	128					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460056	107460056	+	Silent	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:107460056C>T	uc002tdq.3	-	1	497	c.378G>A	c.(376-378)ccG>ccA	p.P126P	ST6GAL2_uc002tdr.3_Silent_p.P126P|ST6GAL2_uc002tds.3_Silent_p.P126P	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	126					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.P126Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGTCATCCTCCGGGTAGAAAG	0.552000													5	145					0	0	1	0	0
MBNL3	55796	broad.mit.edu	37	X	131524902	131524902	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:131524902C>G	uc004ewv.4	-	3	1447	c.744G>C	c.(742-744)caG>caC	p.Q248H	AK095439_uc004ewr.1_Intron|MBNL3_uc004eww.3_Missense_Mutation_p.Q152H|MBNL3_uc004ewt.3_Missense_Mutation_p.Q198H|MBNL3_uc004ewx.2_Missense_Mutation_p.Q198H|MBNL3_uc011muz.2_Missense_Mutation_p.Q152H|MBNL3_uc004ewu.4_Missense_Mutation_p.Q248H	NM_018388	NP_001164175	Q9NUK0	MBNL3_HUMAN	Homo sapiens muscleblind-like 3 (Drosophila) (MBNL3), transcript variant 1, mRNA.	248					RNA splicing|mRNA processing|multicellular organismal development|regulation of RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					AATGGTTCATCTGATGATGAG	0.458000													5	79					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63127959	63127959	+	Silent	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:63127959T>C	uc002alb.4	+	52	7152	c.7152T>C	c.(7150-7152)gcT>gcC	p.A2384A	TLN2_uc002alc.4_Silent_p.A777A|TLN2_uc010uic.2_5'UTR|AK125516_uc002ale.1_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2384	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTGCCAATGCTGCAGACGACG	0.602000													40	194					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1219448	1219448	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:1219448G>A	uc001qjb.2	+	4	1493	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.E418K|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Missense_Mutation_p.E418K|ERC1_uc010sdv.1_Missense_Mutation_p.E194K|ERC1_uc009zdp.3_Missense_Mutation_p.E55K	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	418					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAGTACTGAGGAAAGGGAAGA	0.388000													7	52					0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90500727	90500727	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr9:90500727A>G	uc004app.4	+	3	1360	c.1325A>G	c.(1324-1326)gAc>gGc	p.D442G	FAM75E1_uc004apo.1_Missense_Mutation_p.D254G	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	442						integral to membrane											CTTTTCTGGGACCTCCCCTCT	0.567000													6	146					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765383	66765383	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:66765383T>C	uc004dwu.2	+	0	1510	c.395T>C	c.(394-396)gTc>gCc	p.V132A	AR_uc011mpd.2_Missense_Mutation_p.V132A|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Missense_Mutation_p.V132A|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Missense_Mutation_p.V132A	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	130	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	AGAGGTTGCGTCCCAGAGCCT	0.677000									Androgen Insensitivity Syndrome				3	2					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2040226	2040226	+	Silent	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr8:2040226G>A	uc003wpx.4	+	15	2019	c.1881G>A	c.(1879-1881)tcG>tcA	p.S627S	MYOM2_uc011kwi.2_Silent_p.S52S	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	627	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCAAGACGTCGGTGGTGGTGC	0.577000													16	174					0	0	1	0	0
BNIP2	663	broad.mit.edu	37	15	59961125	59961125	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:59961125T>C	uc010uhc.2	-	8	1225	c.1222A>G	c.(1222-1224)Atg>Gtg	p.M408V	BNIP2_uc010uhb.2_Missense_Mutation_p.M349V	NM_004330	NP_004321	Q12982	BNIP2_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 2 (BNIP2), mRNA.	287					anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	GTPase activator activity|calcium ion binding|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						ACGTATTCCATGGGGACAAGT	0.308000													27	47					0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6697392	6697392	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:6697392T>C	uc001aof.2	-	13	1496	c.1390A>G	c.(1390-1392)Atc>Gtc	p.I464V	DNAJC11_uc001aog.2_Missense_Mutation_p.I412V|DNAJC11_uc010nzu.1_Missense_Mutation_p.I374V	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	464					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GCATTGACGATGATGAGGCCT	0.572000													7	153					0	0	1	0	0
IDH2	3418	broad.mit.edu	37	15	90631837	90631837	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:90631837C>A	uc002box.3	-	3	602	c.516G>T	c.(514-516)agG>agT	p.R172S	IDH2_uc010uqb.2_Missense_Mutation_p.R120S|IDH2_uc010uqc.2_Missense_Mutation_p.R42S	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding	p.R172K(242)|p.R172S(35)|p.R172M(23)|p.R172W(16)|p.R172?(13)|p.R172G(5)|p.G171D(4)|p.R172N(2)|p.R172L(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CATGGGCGTGCCTGCCAATGG	0.637000			M		GBM								26	43					6.32553e-13	6.65271e-13	1	1	0
TRIOBP	11078	broad.mit.edu	37	22	38120282	38120282	+	Silent	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr22:38120282C>T	uc003atr.3	+	6	1990	c.1719C>T	c.(1717-1719)gaC>gaT	p.D573D	TRIOBP_uc003atu.3_Silent_p.D401D|TRIOBP_uc003atq.1_Silent_p.D573D|TRIOBP_uc003ats.1_Silent_p.D401D	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	573					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCACACGAGACAACCCCAGAA	0.587000													7	154					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070695	141070695	+	Silent	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr9:141070695G>A	uc010ncq.3	+	4	1470	c.630G>A	c.(628-630)acG>acA	p.T210T						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.R105H(1)									GCCAAGGGACGCTACACCGAA	0.592000													5	9					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr19:53856730G>A	uc010ydv.1	+	3	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_uc010ydw.1_Silent_p.K934K	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(6)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													3	28					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116207683	116207683	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:116207683A>G	uc021pyx.1	-	14	1790	c.1691T>C	c.(1690-1692)aTt>aCt	p.I564T	ABLIM1_uc021pyw.1_Missense_Mutation_p.I564T|ABLIM1_uc021pyy.1_Missense_Mutation_p.I532T|ABLIM1_uc021pyz.1_Missense_Mutation_p.I498T|ABLIM1_uc021pza.1_Missense_Mutation_p.I504T|ABLIM1_uc021pze.1_Intron|ABLIM1_uc021pzf.1_Missense_Mutation_p.I528T|ABLIM1_uc021pyv.1_Missense_Mutation_p.I234T|ABLIM1_uc021pzb.1_Intron|ABLIM1_uc021pzc.1_Missense_Mutation_p.I180T|ABLIM1_uc021pzd.1_Missense_Mutation_p.I377T|ABLIM1_uc021pyu.1_Missense_Mutation_p.I241T	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	564					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTCCGTCTCAATCTTTGGTGT	0.547000													4	87					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43310590	43310590	+	Missense_Mutation	SNP	G	G	A	rs147313268	byFrequency	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:43310590G>A	uc003oux.3	-	6	3178	c.3100C>T	c.(3100-3102)Cgt>Tgt	p.R1034C	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1034				RT -> CI (in Ref. 1; AAD47387/AAD17298).	meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCTTAGTACGAAACTTCTCA	0.433000													6	28					0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	218999633	218999633	+	Missense_Mutation	SNP	G	G	A	rs75759064	by1000genomes	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:218999633G>A	uc002vgz.2	+	3	319	c.109G>A	c.(109-111)Gcc>Acc	p.A37T	CXCR2_uc002vha.2_Missense_Mutation_p.A37T|CXCR2_uc002vhb.2_Missense_Mutation_p.A37T|CXCR2_uc021vwp.1_Missense_Mutation_p.A37T	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	37					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ACTAGATGCCGCCCCATGTGA	0.448000													53	116					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	70073157	70073157	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:70073157C>A	uc004dyl.3	-	6	553	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	TEX11_uc004dym.3_Nonsense_Mutation_p.E116*	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	131							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCCAACCATTCTTTTCCTATT	0.343000													16	37					3.32936e-07	3.44222e-07	1	1	0
NDST2	8509	broad.mit.edu	37	10	75565368	75565368	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:75565368G>C	uc001jvk.2	-	7	2527	c.1723C>G	c.(1723-1725)Cag>Gag	p.Q575E	NDST2_uc010qks.1_Missense_Mutation_p.Q201E|NDST2_uc010qkt.1_Missense_Mutation_p.Q452E|NDST2_uc001jvl.1_5'Flank|NDST2_uc009xro.2_Missense_Mutation_p.Q201E|NDST2_uc010qku.1_Missense_Mutation_p.Q450E	NM_003635	NP_003626	P52849	NDST2_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA.	575	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.Q575E(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CTTCGCTCCTGAGGGAAAAGT	0.512000													3	41					0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:151773603delA	uc001ezf.1	-	1	1768	c.1578delT	c.(1576-1578)tttfs	p.F526fs	LINGO4_uc021oyu.1_Frame_Shift_Del_p.F526fs	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	526						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582													7	218	---	---	---	---					
ZACN	353174	broad.mit.edu	37	17	74076491	74076492	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr17:74076491_74076492delCT	uc002jqn.2	+	4	613_614	c.530_531delCT	c.(529-531)gctfs	p.A177fs	ZACN_uc002jqo.2_Non-coding_Transcript|ZACN_uc010dgu.2_Intron	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	Homo sapiens zinc activated ligand-gated ion channel (ZACN), mRNA.	177					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						AGCTTCTACGCTCTCAGCAACA	0.644													60	94	---	---	---	---					
