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
ZBTB40	9923	broad.mit.edu	37	1	22835047	22835047	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:22835047G>T	uc001bft.2	+	8	2033	c.1522G>T	c.(1522-1524)Gac>Tac	p.D508Y	ZBTB40_uc001bfu.2_Missense_Mutation_p.D508Y|ZBTB40_uc009vqi.1_Missense_Mutation_p.D396Y|ZBTB40_uc001bfv.1_Missense_Mutation_p.D137Y	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	508					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGTGAAACGTGACTCTGGTTC	0.483												
HMCN1	83872	broad.mit.edu	37	1	186121993	186121993	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:186121993T>G	uc001grq.1	+	95	15237	c.15008T>G	c.(15007-15009)gTc>gGc	p.V5003G	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.V572G	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5003	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCTGCTGAAGTCACTGTAAAG	0.438												
OBSCN	84033	broad.mit.edu	37	1	228559651	228559651	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:228559651C>T	uc009xez.1	+	93	21216	c.21172C>T	c.(21172-21174)Cct>Tct	p.P7058S	OBSCN_uc001hsr.1_Missense_Mutation_p.P1687S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7058	Pro-rich.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCATGCCCTCCTGGCTCCTT	0.672												
KIAA1804	84451	broad.mit.edu	37	1	233518426	233518426	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:233518426T>C	uc001hvt.4	+	9	3341	c.3080T>C	c.(3079-3081)aTa>aCa	p.I1027T	KIAA1804_uc001hvu.4_Missense_Mutation_p.I473T	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	1027					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CGGCCATCTATATATGAACTG	0.428												
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	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	0.453												
PTPRE	5791	broad.mit.edu	37	10	129861345	129861345	+	Splice_Site	SNP	A	A	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr10:129861345A>T	uc009yat.3	+	11	1076	c.659_splice	c.e11-2	p.G220_splice	PTPRE_uc001lkb.3_Splice_Site_p.G209_splice|PTPRE_uc010qup.1_Splice_Site|PTPRE_uc009yau.2_Splice_Site_p.G209_splice|PTPRE_uc001lkd.3_Splice_Site_p.G151_splice|PTPRE_uc010quq.1_Splice_Site_p.G110_splice	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	209	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTACACACAGGTCCCAAAC	0.522												
MEN1	4221	broad.mit.edu	37	11	64575521	64575521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:64575521G>A	uc001obj.3	-	2	584	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	MEN1_uc001obk.3_Nonsense_Mutation_p.Q171*|MEN1_uc001obl.3_Nonsense_Mutation_p.Q166*|MEN1_uc001obm.3_Nonsense_Mutation_p.Q166*|MEN1_uc001obn.3_Nonsense_Mutation_p.Q171*|MEN1_uc001obo.3_Nonsense_Mutation_p.Q171*|MEN1_uc001obq.3_Nonsense_Mutation_p.Q171*|MEN1_uc001obr.3_Nonsense_Mutation_p.Q171*	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	171			Missing (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.R171Q(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCCAGGGCCTGGCAGGCCCCA	0.602			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated			
KRTAP5-11	440051	broad.mit.edu	37	11	71293418	71293418	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:71293418T>G	uc001oqu.3	-	0	504	c.466A>C	c.(466-468)Atc>Ctc	p.I156L		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.	156						keratin filament		p.K155N(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GAGCCTCAGATCTTACACTGG	0.542												
INPPL1	3636	broad.mit.edu	37	11	71942586	71942586	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:71942586delC	uc001osf.3	+	12	1689	c.1542delC	c.(1540-1542)gtcfs	p.V514fs	INPPL1_uc001osg.3_Frame_Shift_Del_p.V272fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	514					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGTGCTGGTCAAGCCAGAGC	0.567												
RAB30	27314	broad.mit.edu	37	11	82693315	82693315	+	Silent	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:82693315G>A	uc001ozu.3	-	5	765	c.504C>T	c.(502-504)tgC>tgT	p.C168C	RAB30_uc009yve.3_Silent_p.C166C|RAB30_uc010rst.2_Silent_p.C168C|RAB30_uc001ozv.3_3'UTR	NM_014488	NP_055303	Q15771	RAB30_HUMAN	Homo sapiens RAB30, member RAS oncogene family (RAB30), mRNA.	168					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TGATGAGTCGGCATGCTAAGT	0.438												
SESN3	143686	broad.mit.edu	37	11	94924753	94924756	+	Frame_Shift_Del	DEL	TTGC	TTGC	-			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:94924753_94924756delTTGC	uc001pfk.1	-	2	376_379	c.154_157delGCAA	c.(154-159)gcaaacfs	p.A52fs	SESN3_uc010rug.1_5'UTR|SESN3_uc001pfl.3_Frame_Shift_Del_p.A52fs	NM_144665	NP_653266	P58005	SESN3_HUMAN	Homo sapiens sestrin 3 (SESN3), mRNA.	52					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TCCACTGTGTTTGCTTGGACAACC	0.368												
HELB	92797	broad.mit.edu	37	12	66698566	66698566	+	Silent	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr12:66698566G>A	uc001sti.2	+	1	271	c.243G>A	c.(241-243)ccG>ccA	p.P81P	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	81					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GACGTTTTCCGATAACAGGTG	0.378												
CABP1	9478	broad.mit.edu	37	12	121098105	121098105	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr12:121098105G>A	uc001tyu.3	+	2	859	c.792G>A	c.(790-792)atG>atA	p.M264I	CABP1_uc001tyv.3_Missense_Mutation_p.M121I|CABP1_uc001tyw.3_Missense_Mutation_p.M61I|CABP1_uc001tyx.3_Missense_Mutation_p.M106I	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN	Homo sapiens calcium binding protein 1 (CABP1), transcript variant 3, mRNA.	264	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCACCGAGATGGAGCTCATCG	0.572												
HERC2	8924	broad.mit.edu	37	15	28389261	28389261	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr15:28389261G>A	uc001zbj.3	-	72	11367	c.11261C>T	c.(11260-11262)gCg>gTg	p.A3754V		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3754					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGCGAGGCCGCAAGGCGAGG	0.537												
WASH3P	374666	broad.mit.edu	37	15	102515344	102515344	+	Missense_Mutation	SNP	A	A	C	rs141089280	by1000genomes	TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr15:102515344A>C	uc002cdi.3	+	8	1988	c.568A>C	c.(568-570)Aag>Cag	p.K190Q	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.											central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GCTGGAGAAGAAGCAGCAGAA	0.662												
MRPS34	65993	broad.mit.edu	37	16	1823074	1823075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr16:1823074_1823075insG	uc002cmo.3	-	0	66_67	c.46_47insC	c.(46-48)cgcfs	p.R16fs	NME3_uc002cmm.3_5'Flank|NME3_uc010brv.3_5'Flank|MRPS34_uc021taj.1_Frame_Shift_Ins_p.R16fs|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	NM_023936	NP_076425	P82930	RT34_HUMAN	Homo sapiens mitochondrial ribosomal protein S34 (MRPS34), nuclear gene encoding mitochondrial protein, mRNA.	16						mitochondrion|ribosome	protein binding			breast(1)|skin(2)	3						GCGCACGCGGCGGGCCAGCTCC	0.723												
RNF40	9810	broad.mit.edu	37	16	30774843	30774843	+	Silent	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr16:30774843G>A	uc002dzq.3	+	3	1225	c.405G>A	c.(403-405)ggG>ggA	p.G135G	C16orf93_uc002dzo.3_5'Flank|C16orf93_uc021tgp.1_5'Flank|C16orf93_uc002dzm.3_5'Flank|C16orf93_uc002dzp.3_5'Flank|RNF40_uc010caa.3_Silent_p.G135G|RNF40_uc010cab.3_Silent_p.G135G|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Intron|RNF40_uc002dzr.3_Silent_p.G135G	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	135					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CATGTGATGGGACTCCTCTCC	0.612												
KRTAP1-1	81851	broad.mit.edu	37	17	39197186	39197186	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr17:39197186C>T	uc002hvw.1	-	0	528	c.464G>A	c.(463-465)cGc>cAc	p.R155H		NM_030967	NP_112229	Q07627	KRA11_HUMAN	Homo sapiens keratin associated protein 1-1 (KRTAP1-1), mRNA.	155						extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GTAGGATGGGCGGCAGCAGGA	0.637												
C19orf10	56005	broad.mit.edu	37	19	4668644	4668644	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:4668644C>T	uc002may.3	-	1	257	c.188G>A	c.(187-189)tGt>tAt	p.C63Y		NM_019107	NP_061980	Q969H8	CS010_HUMAN	Homo sapiens chromosome 19 open reading frame 10 (C19orf10), mRNA.	63						ER-Golgi intermediate compartment|extracellular region				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		AGTGAACATACACGTATATTT	0.413												
ZNF317	57693	broad.mit.edu	37	19	9267420	9267420	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:9267420C>T	uc002mku.3	+	2	463	c.158C>T	c.(157-159)tCc>tTc	p.S53F	ZNF317_uc010xkm.2_Silent_p.F94F|ZNF317_uc002mkv.3_5'UTR|ZNF317_uc002mkw.3_Missense_Mutation_p.S53F|ZNF317_uc002mkx.3_5'UTR|ZNF317_uc002mky.3_5'UTR	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AGTGTTGGTTCCCAGGTGCAC	0.527												
MAN2B1	4125	broad.mit.edu	37	19	12763065	12763065	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:12763065C>G	uc002mub.2	-	15	2024	c.1948G>C	c.(1948-1950)Gac>Cac	p.D650H	MAN2B1_uc010dyv.1_Missense_Mutation_p.D649H	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	650					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTTTCGTTGTCACCTATACTG	0.597												
TMEM147	10430	broad.mit.edu	37	19	36037641	36037641	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:36037641C>T	uc002oaj.2	+	3	415	c.275C>T	c.(274-276)gCc>gTc	p.A92V	AX747325_uc002oag.3_5'Flank|AX747325_uc021usq.1_5'Flank|TMEM147_uc002oai.2_Missense_Mutation_p.A43V|TMEM147_uc021usr.1_Intron	NM_032635	NP_001229526	Q9BVK8	TM147_HUMAN	Homo sapiens transmembrane protein 147 (TMEM147), transcript variant 1, mRNA.	92						endoplasmic reticulum membrane|integral to membrane	protein binding	p.A92V(2)|p.A92A(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCCCGGAATGCCGGCAAGGGA	0.572												
EXOSC5	56915	broad.mit.edu	37	19	41895788	41895788	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:41895788G>A	uc002oqo.3	-	3	430	c.407C>T	c.(406-408)gCc>gTc	p.A136V	BCKDHA_uc002oqm.4_Intron	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN	Homo sapiens exosome component 5 (EXOSC5), mRNA.	136					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CATGCAGGCGGCATTCAGACA	0.552												
NLRP5	126206	broad.mit.edu	37	19	56539217	56539217	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:56539217T>A	uc002qmj.3	+	6	1618	c.1618T>A	c.(1618-1620)Tgg>Agg	p.W540R	NLRP5_uc002qmi.3_Missense_Mutation_p.W521R	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	540	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGAGGGAGTGTGGAATAGGAA	0.552												
FIGN	55137	broad.mit.edu	37	2	164467616	164467616	+	Silent	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr2:164467616G>A	uc002uck.1	-	2	1037	c.726C>T	c.(724-726)ctC>ctT	p.L242L		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	242	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGTAACTGGAGAGGTTAGAAG	0.612												
SNRPB	6628	broad.mit.edu	37	20	2443779	2443779	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr20:2443779C>T	uc002wfz.1	-	4	678	c.515G>A	c.(514-516)cGt>cAt	p.R172H	SNRPB_uc002wga.1_Missense_Mutation_p.R172H|SNRPB_uc010zpv.2_Missense_Mutation_p.R93H|SNRPB_uc002wgb.3_Missense_Mutation_p.R172H|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	172				RG -> L (in Ref. 4).	histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						AGGACCCCCACGGCCAGGTGG	0.597												
SENP5	205564	broad.mit.edu	37	3	196613120	196613120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr3:196613120G>A	uc003fwz.4	+	1	1317	c.1068G>A	c.(1066-1068)tgG>tgA	p.W356*	SENP5_uc011bty.2_Nonsense_Mutation_p.W356*	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 5 (SENP5), mRNA.	356					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CAAACGCCTGGGACCAGTCAT	0.468												
OR2J2	26707	broad.mit.edu	37	6	29142195	29142195	+	Silent	SNP	C	C	G			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr6:29142195C>G	uc011dlm.2	+	0	885	c.783C>G	c.(781-783)ctC>ctG	p.L261L		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GCATGTATCTCCAGCCACCAT	0.433												
MUC17	140453	broad.mit.edu	37	7	100677921	100677921	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr7:100677921C>T	uc003uxp.1	+	2	3277	c.3224C>T	c.(3223-3225)aCt>aTt	p.T1075I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1075	59 X approximate tandem repeats.|Ser-rich.					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)					CCTGTGACCACTTATTCTCAA	0.488												
EPHA1	2041	broad.mit.edu	37	7	143098437	143098437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr7:143098437G>A	uc003wcz.3	-	2	499	c.412C>T	c.(412-414)Cga>Tga	p.R138*		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	138						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AAGGGCCGTCGGAGCTGAATG	0.592												
ATP6V1C1	528	broad.mit.edu	37	8	104075258	104075258	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr8:104075258C>G	uc003ykz.4	+	8	962	c.717C>G	c.(715-717)caC>caG	p.H239Q	ATP6V1C1_uc010mbz.3_Missense_Mutation_p.H164Q|ATP6V1C1_uc003yla.3_Missense_Mutation_p.H239Q|ATP6V1C1_uc011lhl.2_Missense_Mutation_p.H164Q	NM_001695	NP_001686	P21283	VATC1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 (ATP6V1C1), mRNA.	239					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			ACTTCAGACACAAAGCCAGAG	0.328												
LRRC6	23639	broad.mit.edu	37	8	133645122	133645122	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr8:133645122C>T	uc003ytk.3	-	4	591	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	LRRC6_uc022bbp.1_Missense_Mutation_p.E173K|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	173						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGATCTTTTTCCTGCTCTCTG	0.398												
CDKN2B	1030	broad.mit.edu	37	9	22006044	22006044	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr9:22006044G>T	uc003zpo.3	-	1	719	c.359C>A	c.(358-360)gCc>gAc	p.A120D	MTAP_uc003zpi.1_Intron|MTAP_uc010miw.1_Intron|CDKN2B-AS1_uc022bed.1_Intron|CDKN2B-AS1_uc022bee.1_Intron|CDKN2B-AS1_uc010mix.1_Intron|CDKN2B-AS1_uc022bef.1_Intron|MTAP_uc003zpm.3_Intron|MTAP_uc022bek.1_Intron|CDKN2B-AS1_uc022beg.1_Intron|CDKN2B-AS1_uc022beh.1_Intron|CDKN2B-AS1_uc022bei.1_Intron|CDKN2B-AS1_uc022bej.1_Intron|CDKN2B-AS1_uc022bel.1_Intron|CDKN2B-AS1_uc022bem.1_Intron|CDKN2B-AS1_uc022ben.1_Intron|CDKN2B_uc003zpn.3_3'UTR	NM_004936	NP_004927	P42772	CDN2B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B), transcript variant 1, mRNA.	120					cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CCGCTCCTCGGCCAAGTCCAC	0.701												
CDKN2B	1030	broad.mit.edu	37	9	22006068	22006068	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr9:22006068C>A	uc003zpo.3	-	1	695	c.335G>T	c.(334-336)tGg>tTg	p.W112L	MTAP_uc003zpi.1_Intron|MTAP_uc010miw.1_Intron|CDKN2B-AS1_uc022bed.1_Intron|CDKN2B-AS1_uc022bee.1_Intron|CDKN2B-AS1_uc010mix.1_Intron|CDKN2B-AS1_uc022bef.1_Intron|MTAP_uc003zpm.3_Intron|MTAP_uc022bek.1_Intron|CDKN2B-AS1_uc022beg.1_Intron|CDKN2B-AS1_uc022beh.1_Intron|CDKN2B-AS1_uc022bei.1_Intron|CDKN2B-AS1_uc022bej.1_Intron|CDKN2B-AS1_uc022bel.1_Intron|CDKN2B-AS1_uc022bem.1_Intron|CDKN2B-AS1_uc022ben.1_Intron|CDKN2B_uc003zpn.3_3'UTR	NM_004936	NP_004927	P42772	CDN2B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B), transcript variant 1, mRNA.	112					cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CAGACGACCCCAGGCATCGCG	0.726												
OTC	5009	broad.mit.edu	37	X	38260629	38260629	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chrX:38260629T>C	uc004def.4	+	4	702	c.488T>C	c.(487-489)cTg>cCg	p.L163P		NM_000531	NP_000522	P00480	OTC_HUMAN	Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	163					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	ATCAATGGGCTGTCAGATTTG	0.408												
HUWE1	10075	broad.mit.edu	37	X	53569470	53569470	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chrX:53569470G>A	uc004dsp.3	-	73	11812	c.11410C>T	c.(11410-11412)Cgg>Tgg	p.R3804W	HUWE1_uc004dsn.3_Missense_Mutation_p.R2612W|HUWE1_uc004dsq.1_Missense_Mutation_p.R104W	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3804					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCTCCCTCCGGACAGACGCC	0.502