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
TTN	7273	broad.mit.edu	37	2	179579894	179579894	+	Silent	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr2:179579894G>A	uc021vsy.1	-	86	22512	c.22287C>T	c.(22285-22287)caC>caT	p.H7429H	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.H4090H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8356	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAAGAAACGTGAAATGGGG	0.443000													62	98					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	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													4	65					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67695981	67695981	+	Silent	SNP	A	A	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr18:67695981A>C	uc002lkp.2	-	42	5870	c.5802T>G	c.(5800-5802)ctT>ctG	p.L1934L	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.L1022L|RTTN_uc010dqp.2_Silent_p.L186L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1934				L -> P (in Ref. 4; AAH46222).			binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CATTTTGATAAAGACAGTTTC	0.308000													5	16					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283229	152283229	+	Missense_Mutation	SNP	G	G	C	rs144375884		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:152283229G>C	uc001ezu.1	-	2	4169	c.4133C>G	c.(4132-4134)gCt>gGt	p.A1378G	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1378	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGATGAAGCTTGTCTGTG	0.532000									Ichthyosis				16	555					0	0	1	0	0
ANKRD13B	124930	broad.mit.edu	37	17	27939276	27939276	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr17:27939276T>G	uc002hei.3	+	10	1356	c.1243T>G	c.(1243-1245)Ttc>Gtc	p.F415V	ANKRD13B_uc002heh.3_Missense_Mutation_p.F283V|ANKRD13B_uc002hej.3_Non-coding_Transcript	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	Homo sapiens ankyrin repeat domain 13B (ANKRD13B), mRNA.	415										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						GCCTCCTGGCTTCCCAGTTAA	0.622000													32	74					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:150156360G>A	uc004fep.3	+	4	668	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_Silent_p.E192E	NM_005342	NP_005333	O15347	HMGB3_HUMAN	Homo sapiens high mobility group box 3 (HMGB3), mRNA.	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(2)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													5	62					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39884880	39884880	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr15:39884880C>T	uc001zkh.3	+	16	2823	c.2644C>T	c.(2644-2646)Cag>Tag	p.Q882*	THBS1_uc010bbi.3_Nonsense_Mutation_p.Q354*	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	882					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAATGCCAACCAGGCTGACCA	0.502000													18	36					0	0	1	0	0
LOC728989	728989	broad.mit.edu	37	1	146494537	146494537	+	Silent	SNP	C	C	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:146494537C>T	uc001epd.2	-	3	536	c.462G>A	c.(460-462)gcG>gcA	p.A154A						Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA.																		TTGGCAGGGCCGCTCTCCAGA	0.567000													3	48					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138711938	138711938	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:138711938T>A	uc011mwn.1	-	6	795	c.789A>T	c.(787-789)gaA>gaT	p.E263D	MCF2_uc004fav.3_Missense_Mutation_p.E118D|MCF2_uc004fau.3_Missense_Mutation_p.E118D|MCF2_uc010nsh.2_Missense_Mutation_p.E118D|MCF2_uc011mwm.2_Missense_Mutation_p.E79D|MCF2_uc011mwl.2_Missense_Mutation_p.E79D|MCF2_uc011mwo.1_Missense_Mutation_p.E178D|MCF2_uc004faw.2_Missense_Mutation_p.E178D	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	118					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCTCAGCCAGTTCAGTTCCAA	0.398000													76	134					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90124772	90124772	+	Silent	SNP	G	G	A	rs144617453	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:90124772G>A	uc010cje.3	-	9	1424	c.1404C>T	c.(1402-1404)agC>agT	p.S468S	PRDM7_uc002fqo.3_Missense_Mutation_p.A168V|PRDM7_uc010cjf.3_Missense_Mutation_p.A257V	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA.	468						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GAATATTGCCGCTCCTGATTC	0.468000													4	115					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429890	135429890	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:135429890C>A	uc004ezu.1	+	5	4316	c.4025C>A	c.(4024-4026)aCc>aAc	p.T1342N	GPR112_uc010nsb.1_Missense_Mutation_p.T1137N|GPR112_uc010nsc.1_Missense_Mutation_p.T1109N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1342					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATTACACCAACCTTGACCTCA	0.463000													6	131					0.217242	0.217242	1	1	0
SPINT1	6692	broad.mit.edu	37	15	41146276	41146276	+	Missense_Mutation	SNP	G	G	A	rs138167951		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr15:41146276G>A	uc001zna.3	+	5	1184	c.980G>A	c.(979-981)cGc>cAc	p.R327H	SPINT1_uc001znb.3_Missense_Mutation_p.R311H|SPINT1_uc001znc.3_Missense_Mutation_p.R311H|SPINT1_uc010ucs.2_Intron	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	327						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ATGGAAAGGCGCCATCCAGGT	0.592000													48	114					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179453926	179453926	+	Silent	SNP	A	A	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr2:179453926A>G	uc021vsy.1	-	252	55047	c.54822T>C	c.(54820-54822)taT>taC	p.Y18274Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Y11969Y|TTN_uc021vta.1_Silent_p.Y11902Y|TTN_uc021vtb.1_Silent_p.Y11777Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19201	Fibronectin type-III 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGTAACTACATATTTACCCC	0.413000													51	64					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650368	232650368	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:232650368T>C	uc001hvg.3	-	0	876	c.718A>G	c.(718-720)Atc>Gtc	p.I240V		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	240					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTCGGAGAGATTGCAGGGTCA	0.473000													5	104					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096617	107096617	+	Silent	SNP	C	C	T	rs144553244		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr3:107096617C>T	uc003dwi.1	+	0	430	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	61								p.D61D(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATAGTTATGACGGAAAAATGA	0.363000													29	81					0	0	1	0	0
CD99L2	83692	broad.mit.edu	37	X	149938823	149938823	+	Silent	SNP	G	G	A	rs147156476	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:149938823G>A	uc004fek.3	-	10	933	c.705C>T	c.(703-705)taC>taT	p.Y235Y	CD99L2_uc011myb.2_Silent_p.Y152Y|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_Silent_p.Y225Y|CD99L2_uc004fem.3_Silent_p.Y176Y|CD99L2_uc004fen.3_Silent_p.Y153Y	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	225					cell adhesion	cell junction|integral to membrane		p.V234M(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCTTCACGTAGTCTGCGT	0.537000													19	35					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29126141	29126141	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr18:29126141G>C	uc002kwu.4	+	14	2980	c.2792G>C	c.(2791-2793)aGa>aCa	p.R931T	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	931					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATGGCTTCTAGAAATGTGATA	0.473000													65	76					0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35131548	35131548	+	Silent	SNP	G	G	A	rs144021252	by1000genomes	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr7:35131548G>A	uc003teq.1	-	19	2145	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TGGCACCTGCGAAGACAGCAT	0.388000													3	33					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282001	152282001	+	Silent	SNP	T	T	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:152282001T>C	uc001ezu.1	-	2	5397	c.5361A>G	c.(5359-5361)ggA>ggG	p.G1787G		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1787	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTGTCTTCCTCCAGTGCTGG	0.597000									Ichthyosis				7	392					0	0	1	0	0
SH3D21	79729	broad.mit.edu	37	1	36785522	36785522	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:36785522G>A	uc010oia.1	+	13	1286	c.1258G>A	c.(1258-1260)Gtg>Atg	p.V420M	SH3D21_uc010oib.1_Missense_Mutation_p.V309M|SH3D21_uc010oic.1_Non-coding_Transcript|SH3D21_uc009vuz.1_Missense_Mutation_p.V66M	NM_001162530	NP_078952	A4FU49	SH321_HUMAN	Homo sapiens SH3 domain containing 21 (SH3D21), transcript variant 1, mRNA.	304										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						AGAGAAGATGGTGACTCCGGA	0.562000													6	80					0	0	1	0	0
CHCHD4	131474	broad.mit.edu	37	3	14157999	14157999	+	Silent	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr3:14157999G>A	uc003byj.4	-	1	243	c.48C>T	c.(46-48)acC>acT	p.T16T	CHCHD4_uc003byi.4_Silent_p.T29T	NM_001098502	NP_001091972	Q8N4Q1	MIA40_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 4 (CHCHD4), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	16					protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GATCTTCTTTGGTTACAAATA	0.468000													4	159					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62300864	62300864	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr15:62300864C>G	uc002agz.3	-	13	1199	c.1108G>C	c.(1108-1110)Ggt>Cgt	p.G370R	VPS13C_uc002aha.3_Missense_Mutation_p.G327R|VPS13C_uc002ahb.2_Missense_Mutation_p.G370R|VPS13C_uc002ahc.2_Missense_Mutation_p.G327R	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	370					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATCGTCGACCATTGGTATGA	0.338000													5	8					0	0	1	0	0
GAGE1	2543	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs147803166	by1000genomes	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:49355893C>G	uc004doi.4	+	2	272	c.175C>G	c.(175-177)Cag>Gag	p.Q59E	GAGE1_uc004doj.3_Intron	NM_001127212	NP_001120684	Q13065	GAGE1_HUMAN	Homo sapiens G antigen 2A (GAGE2A), mRNA.	60					cellular defense response			p.Q59E(8)				Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562000													5	479					0	0	1	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260295	30260295	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:30260295C>T	uc004dcb.3	+	0	239	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	15								p.R15H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCGTGAGAAACGCCAGCGGAC	0.567000													13	46					0	0	1	0	0
LOC100286793	100286793	broad.mit.edu	37	1	143744446	143744446	+	RNA	SNP	A	A	G	rs71661952		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:143744446A>G	uc001ejp.3	-	0		c.142T>C			LOC100286793_uc001ejr.4_Non-coding_Transcript|LOC100286793_uc009whx.2_Non-coding_Transcript|LOC100286793_uc009why.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC100286793 (LOC100286793), non-coding RNA.																		Agaggaggagaaggaggagga	0.557000													3	15					0	0	1	0	0
TMX2	51075	broad.mit.edu	37	11	57480129	57480129	+	Silent	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr11:57480129G>A	uc001nlc.2	+	0	135	c.39G>A	c.(37-39)tcG>tcA	p.S13S	CTNND1_uc001nlf.2_5'UTR|MED19_uc001nla.1_5'Flank|MED19_uc001nlb.3_5'Flank|TMX2_uc001nld.2_5'UTR|TMX2_uc001nle.2_Silent_p.S13S|TMX2_uc021qji.1_Non-coding_Transcript	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 2 (TMX2), transcript variant 1, mRNA.	13					cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TCGTGTATTCGGTGCCGCGAC	0.627000													7	38					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								16	44					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50123629	50123629	+	Silent	SNP	C	C	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr19:50123629C>T	uc002poo.4	+	9	5518	c.5518C>T	c.(5518-5520)Ctg>Ttg	p.L1840L		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	1019							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACCTGGGCGTCTGCTCAAAAC	0.567000													6	15					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109694050	109694050	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:109694050C>G	uc004eor.2	+	2	451	c.205C>G	c.(205-207)Cca>Gca	p.P69A	RGAG1_uc011msr.1_Missense_Mutation_p.P69A	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	69										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GATGACATCTCCAGTCTTTGA	0.517000											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	303					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109741239	109741239	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:109741239C>G	uc021orb.1	+	17	2665	c.2444C>G	c.(2443-2445)aCc>aGc	p.T815S	KIAA1324_uc009wex.2_Missense_Mutation_p.T765S|KIAA1324_uc010ovg.2_Missense_Mutation_p.T713S|KIAA1324_uc009wey.3_Missense_Mutation_p.T728S|KIAA1324_uc001dwr.3_Missense_Mutation_p.T465S|KIAA1324_uc001dws.1_Non-coding_Transcript|KIAA1324_uc009wez.1_Non-coding_Transcript	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	815					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGATCAACCACCATCCGCGTC	0.532000													3	16					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44143857	44143857	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr6:44143857G>A	uc003owt.1	+	7	922	c.884G>A	c.(883-885)gGg>gAg	p.G295E	CAPN11_uc011dvn.2_5'Flank	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	295	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGGTGAGAGGGCACGCTTAC	0.557000													8	23					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939697	76939697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:76939697C>A	uc004ecp.4	-	8	1283	c.1051G>T	c.(1051-1053)Gag>Tag	p.E351*	ATRX_uc004ecq.4_Nonsense_Mutation_p.E313*|ATRX_uc004eco.4_Nonsense_Mutation_p.E136*|ATRX_uc004ecr.2_Nonsense_Mutation_p.E312*|ATRX_uc010nlx.1_Nonsense_Mutation_p.E351*|ATRX_uc010nly.1_Nonsense_Mutation_p.E296*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	351					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)	TTAATCATCTCTTTGGGCACA	0.353000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						39	69					2.75727e-19	2.8654e-19	1	1	0
CNOT1	23019	broad.mit.edu	37	16	58581553	58581553	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:58581553A>C	uc002env.3	-	25	3849	c.3556T>G	c.(3556-3558)Ttc>Gtc	p.F1186V	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.F1181V|CNOT1_uc002enx.3_Missense_Mutation_p.F1186V|CNOT1_uc010vik.2_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1186					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CGATCTGAGAAATTGGCTGCA	0.358000													11	28					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904175	21904175	+	RNA	SNP	T	T	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr17:21904175T>A	uc002gza.2	+	0		c.114T>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ggaagcagcgtggcatcccag	0.682000													5	184					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211152	59211152	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr11:59211152T>A	uc001nnx.1	+	0	511	c.511T>A	c.(511-513)Ttt>Att	p.F171I		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TAGGCTTCACTTTTGCGGACC	0.532000													8	374					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000													3	39					0	0	1	0	0
C5orf25	375484	broad.mit.edu	37	5	175763804	175763804	+	Silent	SNP	A	A	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr5:175763804A>C	uc003mds.4	+	9	2603	c.2196A>C	c.(2194-2196)acA>acC	p.T732T	C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdt.4_Silent_p.T317T|C5orf25_uc003mdv.3_Silent_p.T193T			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	732												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		GCTGTGAGACACCCACCCGCC	0.478000													8	59					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139402727	139402727	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr9:139402727G>C	uc004chz.3	-	19	3282	c.3282C>G	c.(3280-3282)tgC>tgG	p.C1094W	NOTCH1_uc004cia.1_Missense_Mutation_p.C324W	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1094	EGF-like 28.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGGCACGTCGCAGTAAAGGC	0.662000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	142					0	0	1	0	0
NAA10	8260	broad.mit.edu	37	X	153195525	153195525	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:153195525T>C	uc004fjm.1	-	7	734	c.623A>G	c.(622-624)gAc>gGc	p.D208G	NAA10_uc004fjn.1_Missense_Mutation_p.D193G	NM_003491	NP_003482	P41227	NAA10_HUMAN	Homo sapiens N(alpha)-acetyltransferase 10, NatA catalytic subunit (NAA10), transcript variant 1, mRNA.	208					DNA packaging|N-terminal protein amino acid acetylation|internal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.D208E(1)		breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GTCCTTGCTGTCCCCACCACT	0.617000													4	95					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66982397	66982397	+	Silent	SNP	C	C	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr17:66982397C>T	uc002jhu.3	-	31	4259	c.4116G>A	c.(4114-4116)gcG>gcA	p.A1372A	ABCA9_uc010dez.3_Silent_p.A1334A	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1372	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.N1371S(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGGGCCACAGCGCATTCTCCT	0.547000													8	116					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29855999	29855999	+	Missense_Mutation	SNP	G	G	A	rs113415054	by1000genomes	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr6:29855999G>A	uc010jro.3	+	1	493	c.347G>A	c.(346-348)gGc>gAc	p.G116D	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_5'Flank|HLA-G_uc021ytv.1_Intron|HLA-J_uc021ytx.1_5'Flank			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	114	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CAGAGCGAGGGCGGTGAGTGA	0.667000													5	30					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150917494	150917494	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr5:150917494C>G	uc003lue.4	-	10	9066	c.9053G>C	c.(9052-9054)gGc>gCc	p.G3018A		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3018	Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGAACCTTGCCAGTATAGAG	0.458000													3	52					0	0	1	0	0
AVPR1A	552	broad.mit.edu	37	12	63543861	63543861	+	Silent	SNP	C	C	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr12:63543861C>T	uc001sro.1	-	0	2730	c.756G>A	c.(754-756)gcG>gcA	p.A252A		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	252					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.T251M(1)|p.T251K(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TCTGGCGCGACGCCGTCTTCC	0.622000													7	190					0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36293163	36293163	+	Silent	SNP	G	G	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr19:36293163G>T	uc002obx.1	-	9	1374	c.1356C>A	c.(1354-1356)ggC>ggA	p.G452G		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	452					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGAGGAATGCCCAGCTCCC	0.542000													10	136					1.5842e-08	1.61467e-08	1	1	0
C16orf70	80262	broad.mit.edu	37	16	67168278	67168278	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:67168278G>A	uc002erd.3	+	7	733	c.569G>A	c.(568-570)aGc>aAc	p.S190N	C16orf70_uc002erc.3_Missense_Mutation_p.S190N|C16orf70_uc002ere.1_3'UTR	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.	190										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ATGCCTCTGAGCTGTTTCCTG	0.532000													9	470					0	0	1	0	0
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:51076024G>A	uc004dph.3	+	1	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_uc004dpi.4_Silent_p.E69E	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 10 (NUDT10), mRNA.	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(16)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657000													3	49					0	0	1	0	0
KCNA7	3743	broad.mit.edu	37	19	49573516	49573516	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr19:49573516A>G	uc002pmg.3	-	1	1531	c.1175T>C	c.(1174-1176)gTc>gCc	p.V392A		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	392						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		GGAGACAATGACGGGCACTGG	0.567000													26	43					0	0	1	0	0
TXN2	25828	broad.mit.edu	37	22	36872905	36872905	+	Splice_Site	SNP	T	T	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr22:36872905T>A	uc003apk.1	-	3	341	c.264_splice	c.e3-1	p.Q88_splice	TXN2_uc003apl.1_Splice_Site	NM_012473	NP_036605	Q99757	THIOM_HUMAN	Homo sapiens thioredoxin 2 (TXN2), nuclear gene encoding mitochondrial protein, mRNA.	88	Thioredoxin.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						CCACACCACCTCAAAAGGCGA	0.537000													5	146					0	0	1	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32479677	32479677	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:32479677delC	uc001bub.3	+	0	187	c.81delC	c.(79-81)cacfs	p.H27fs	KHDRBS1_uc001bua.1_Frame_Shift_Del_p.H27fs|KHDRBS1_uc001buc.1_Non-coding_Transcript	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 1 (KHDRBS1), mRNA.	27					G2/M transition of mitotic cell cycle|cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCGGTGCCCACCCCTCGGTGC	0.771													2	4	---	---	---	---					
CCAR1	55749	broad.mit.edu	37	10	70513778	70513779	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr10:70513778_70513779insA	uc001joo.3	+	10	1407_1408	c.1288_1289insA	c.(1288-1290)gaafs	p.E430fs	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Frame_Shift_Ins_p.E235fs|CCAR1_uc009xpx.1_Frame_Shift_Ins_p.E404fs|CCAR1_uc001jon.1_Frame_Shift_Ins_p.E376fs|CCAR1_uc010qiz.1_Frame_Shift_Ins_p.E415fs|CCAR1_uc010qja.1_Frame_Shift_Ins_p.E415fs|CCAR1_uc010qjb.2_Non-coding_Transcript|SNORD98_uc001jop.1_5'Flank	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	430					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGAGTCCTTAGAAAAAAATATG	0.381													32	68	---	---	---	---					
ATG2B	55102	broad.mit.edu	37	14	96777876	96777877	+	Splice_Site	DEL	CA	CA	-			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr14:96777876_96777877delCA	uc001yfi.3	-	27	4355	c.3990_splice	c.e27+1	p.Q1330_splice		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1330										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTTAATAACTCACTTGCTCTCC	0.277													14	26	---	---	---	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	-	AGTAATACACGGCA			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													2	4	---	---	---	---					
