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
COL16A1	1307	broad.mit.edu	37	1	32164172	32164172	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:32164172G>A	uc001btk.1	-	4	667	c.302C>T	c.(301-303)gCc>gTc	p.A101V	COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.4_Missense_Mutation_p.A101V	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	101	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CAGCACCAGGGCAAACTCCTC	0.567												
KLF17	128209	broad.mit.edu	37	1	44595136	44595136	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:44595136G>A	uc001clp.3	+	1	251	c.193G>A	c.(193-195)Gca>Aca	p.A65T	KLF17_uc009vxf.1_Missense_Mutation_p.A28T	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	65					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TCCTCACAGCGCAGAGATGCT	0.557												
FLG2	388698	broad.mit.edu	37	1	152324215	152324215	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:152324215G>A	uc001ezw.4	-	2	6120	c.6047C>T	c.(6046-6048)aCa>aTa	p.T2016I	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2016							calcium ion binding|structural molecule activity	p.S2015T(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCTCTGTGTGGACTGTCC	0.522												
SPTA1	6708	broad.mit.edu	37	1	158585037	158585037	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:158585037G>A	uc001fst.1	-	47	6956	c.6757C>T	c.(6757-6759)Caa>Taa	p.Q2253*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2253					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGTTGTGTTGCATCCGCAAC	0.537												
TNFSF4	7292	broad.mit.edu	37	1	173155865	173155865	+	Silent	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:173155865G>A	uc001giw.3	-	2	498	c.342C>T	c.(340-342)aaC>aaT	p.N114N	TNFSF4_uc001giv.3_Silent_p.N64N	NM_003326	NP_003317	P23510	TNFL4_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 4 (TNFSF4), mRNA.	114					acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						GAAGGCTAATGTTGACTTCCT	0.468												
IGFN1	91156	broad.mit.edu	37	1	201191952	201191952	+	Missense_Mutation	SNP	T	T	G	rs146807711		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:201191952T>G	uc001gwc.3	+	19	10417	c.10287T>G	c.(10285-10287)ttT>ttG	p.F3429L	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCGTCTCCTTTGAAGTGAGTG	0.572											OREG0014073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LIN9	286826	broad.mit.edu	37	1	226420896	226420896	+	Splice_Site	SNP	T	T	C			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:226420896T>C	uc001hqa.2	-	14	1784	c.1474_splice	c.e14-1	p.C492_splice	LIN9_uc001hqb.2_Splice_Site_p.C457_splice|LIN9_uc001hqc.3_Splice_Site_p.C424_splice|LIN9_uc009xel.1_Intron	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	476					cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TGCTAGACACTAAAGGGAAAA	0.294												
PTEN	5728	broad.mit.edu	37	10	89653779	89653780	+	Splice_Site	INS	-	-	AGAT			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr10:89653779_89653780insAGAT	uc001kfb.3	+	2	1112	c.80_splice	c.e2-2	p.Y27_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	27	Phosphatase tensin-type.		Y -> S (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(4)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAAAGTACTCAGATATTTATC	0.312		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
RPL13AP6	644511	broad.mit.edu	37	10	112696573	112696573	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr10:112696573T>C	uc010qrh.1	-	0	441	c.419A>G	c.(418-420)cAc>cGc	p.H140R	SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron					Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.									p.H140R(2)									GTGAGCCAGGTGCCCCAGATA	0.537												
HBG1	3048	broad.mit.edu	37	11	5275527	5275527	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr11:5275527A>G	uc001mai.1	-	1	747	c.310T>C	c.(310-312)Ttc>Ctc	p.F104L	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.F104L	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	104					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCACCTTGAAGTTCTCAGGA	0.498												
TRIM51	84767	broad.mit.edu	37	11	55653609	55653610	+	Frame_Shift_Ins	INS	-	-	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr11:55653609_55653610insA	uc010rip.2	+	2	514_515	c.422_423insA	c.(421-423)ctafs	p.L141fs	TRIM51_uc010riq.2_5'UTR	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	141						intracellular	zinc ion binding										GAGGAGCTCCTAAAAAAAATGC	0.401												
INCENP	3619	broad.mit.edu	37	11	61898063	61898063	+	Splice_Site	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr11:61898063G>A	uc001nsw.1	+	4	1265	c.1063_splice	c.e4+1	p.C355_splice	INCENP_uc009ynv.3_Splice_Site_p.C355_splice|INCENP_uc009ynw.1_Splice_Site_p.C355_splice|INCENP_uc001nsx.1_Splice_Site_p.C355_splice	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	355					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CGCATCATCTGTGAGTCTGGG	0.587												
MYEOV	26579	broad.mit.edu	37	11	69063304	69063304	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr11:69063304C>A	uc001oov.3	+	2	837	c.387C>A	c.(385-387)gaC>gaA	p.D129E	MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Missense_Mutation_p.D129E|MYEOV_uc001oow.3_Missense_Mutation_p.D71E	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.	129										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		AAGACGTGGACGTGTCCCGGG	0.617												
VWF	7450	broad.mit.edu	37	12	6127617	6127617	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:6127617G>A	uc001qnn.1	-	27	5217	c.4967C>T	c.(4966-4968)aCg>aTg	p.T1656M	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1656	VWFA 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCGGGGGAGCGTCTCAAAGTC	0.632												
MDM2	4193	broad.mit.edu	37	12	69229607	69229607	+	Splice_Site	SNP	A	A	G			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:69229607A>G	uc021rad.1	+	8	838	c.364_splice	c.e8-2	p.D122_splice	MDM2_uc001sui.3_Splice_Site_p.D229_splice|MDM2_uc009zqx.3_Splice_Site_p.D174_splice|MDM2_uc009zqy.1_Splice_Site_p.D218_splice|MDM2_uc021rae.1_Splice_Site_p.D218_splice|MDM2_uc001sun.4_Splice_Site_p.D48_splice|MDM2_uc009zra.3_Splice_Site_p.D48_splice|MDM2_uc021raf.1_Splice_Site|MDM2_uc009zrc.3_Intron|MDM2_uc009zrd.3_Splice_Site|MDM2_uc009zre.3_Intron|MDM2_uc001suo.3_Splice_Site_p.D23_splice|MDM2_uc009zrf.3_Intron|MDM2_uc009zrg.3_Intron|MDM2_uc009zrh.3_Splice_Site_p.D23_splice|MDM2_uc021rag.1_Splice_Site|MDM2_uc021rah.1_Splice_Site_p.D193_splice|MDM2_uc021rai.1_Splice_Site|MDM2_uc021raj.1_Intron			Q00987	MDM2_HUMAN	Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.	223					cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|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)			TTCTTGTTTTAGGATCTTGAT	0.398			A		"""sarcoma, glioma, colorectal, other"""							
UHRF1BP1L	23074	broad.mit.edu	37	12	100491231	100491231	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:100491231G>A	uc001tgq.3	-	5	810	c.581C>T	c.(580-582)gCc>gTc	p.A194V	UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.A194V	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	194										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACTTTGGGTGGCATCTGCCTC	0.353												
OAS2	4939	broad.mit.edu	37	12	113447043	113447043	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:113447043C>T	uc001tuj.3	+	9	2187	c.2047C>T	c.(2047-2049)Ccg>Tcg	p.P683S	OAS2_uc001tui.1_Missense_Mutation_p.P683S	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	683	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTGGAAAGTGCCGGTAAAAGT	0.458												
KIAA0564	23078	broad.mit.edu	37	13	42481750	42481750	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr13:42481750C>T	uc001uyj.3	-	3	525	c.455G>A	c.(454-456)cGt>cAt	p.R152H	KIAA0564_uc001uyk.3_Missense_Mutation_p.R152H	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	152						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TGTGCCTGCACGGATCTCTCG	0.458												
TRIM13	10206	broad.mit.edu	37	13	50587073	50587073	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr13:50587073A>T	uc001vdp.1	+	3	1424	c.1006A>T	c.(1006-1008)Acc>Tcc	p.T336S	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_5'Flank|KCNRG_uc001vdu.3_5'Flank|TRIM13_uc001vdq.1_Missense_Mutation_p.T333S|TRIM13_uc001vdr.1_Missense_Mutation_p.T333S|TRIM13_uc001vds.1_Missense_Mutation_p.T333S|TRIM13_uc021rjq.1_Missense_Mutation_p.T333S	NM_001007278	NP_998755	O60858	TRI13_HUMAN	Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.	333					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CTTTGGTCCTACCATGTTCCT	0.408												
CTAGE11P	647288	broad.mit.edu	37	13	75814354	75814354	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr13:75814354C>G	uc010ths.2	-	0	164	c.123G>C	c.(121-123)tgG>tgC	p.W41C						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		CCACCAGTTCCCATGGAAAAC	0.488												
SLITRK6	84189	broad.mit.edu	37	13	86369237	86369237	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr13:86369237G>T	uc001vll.1	-	1	1866	c.1407C>A	c.(1405-1407)aaC>aaA	p.N469K	SLITRK6_uc021rla.1_Missense_Mutation_p.N469K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	469				N -> H (in Ref. 1).		integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTTGGAGGAGGTTGTTATTTA	0.328												
SAMD15	161394	broad.mit.edu	37	14	77843838	77843839	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr14:77843838_77843839insTG	uc001xtq.1	+	0	77_78	c.77_78insTG	c.(76-78)cctfs	p.P26fs	TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Frame_Shift_Ins_p.P26fs	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.	26										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTGAACTGCCTGGACTTCATA	0.540												
SERPINA11	256394	broad.mit.edu	37	14	94912764	94912764	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr14:94912764G>A	uc001ydd.1	-	2	881	c.821C>T	c.(820-822)gCg>gTg	p.A274V		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	274					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GACCAGCAGCGCCAAGGCATT	0.547												
GATM	2628	broad.mit.edu	37	15	45658329	45658329	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr15:45658329T>C	uc001zvc.3	-	5	1222	c.893A>G	c.(892-894)gAt>gGt	p.D298G	GATM_uc001zvb.3_Missense_Mutation_p.D169G|GATM_uc010uev.1_Missense_Mutation_p.D351G	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	298					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GGGATTGGGATCTTTAAAGGA	0.428												
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr16:20370700_20370702delCCA	uc002dhc.1	-	11	1917_1919	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	565					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478												
NUP88	4927	broad.mit.edu	37	17	5322843	5322843	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr17:5322843G>A	uc010vsx.2	-	0	217	c.128C>T	c.(127-129)gCt>gTt	p.A43V	NUP88_uc002gbo.2_Missense_Mutation_p.A43V|NUP88_uc010cle.2_Missense_Mutation_p.A43V|NUP88_uc010vsy.2_Missense_Mutation_p.A43V|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank	NM_002532	NP_002523	Q99567	NUP88_HUMAN	Homo sapiens nucleoporin 88kDa (NUP88), mRNA.	43					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CGACGAAGAAGCTGGTTTCTC	0.602												
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr17:7577568C>T	uc002gim.2	-	6	907	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_uc002gig.1_Missense_Mutation_p.C238Y|TP53_uc002gih.3_Missense_Mutation_p.C238Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106Y|TP53_uc010cnf.1_Missense_Mutation_p.C106Y|TP53_uc002gii.1_Missense_Mutation_p.C106Y|TP53_uc010cni.1_Missense_Mutation_p.C238Y|TP53_uc010cnh.1_Missense_Mutation_p.C238Y|TP53_uc002gij.2_Missense_Mutation_p.C238Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145Y|TP53_uc002gio.2_Missense_Mutation_p.C106Y|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(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)		GGAACTGTTACACATGTAGTT	0.572		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)		
ZCCHC2	54877	broad.mit.edu	37	18	60243794	60243794	+	Silent	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr18:60243794G>A	uc002lip.4	+	13	3519	c.3519G>A	c.(3517-3519)acG>acA	p.T1173T	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Silent_p.T643T	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	1173					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CTAATGATACGTTGGATTCTG	0.468												
ARHGEF18	23370	broad.mit.edu	37	19	7531967	7531967	+	Missense_Mutation	SNP	G	G	A	rs150543189		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:7531967G>A	uc002mgi.3	+	14	2661	c.2408G>A	c.(2407-2409)cGg>cAg	p.R803Q	ARHGEF18_uc010xjm.1_Missense_Mutation_p.R645Q|ARHGEF18_uc002mgh.3_Missense_Mutation_p.R645Q|ARHGEF18_uc002mgj.1_Missense_Mutation_p.R446Q	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	803					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CTTGTCCAGCGGATCCAGACA	0.672												
ZNF492	57615	broad.mit.edu	37	19	22846654	22846654	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:22846654T>A	uc002nqw.3	+	3	427	c.183T>A	c.(181-183)aaT>aaA	p.N61K		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N61K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GCAAAAAAAATTATTTCCAAA	0.318												
MAG	4099	broad.mit.edu	37	19	35801013	35801013	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:35801013G>A	uc002nyy.2	+	7	1666	c.1468G>A	c.(1468-1470)Gcg>Acg	p.A490T	MAG_uc002nyx.2_Missense_Mutation_p.A490T|MAG_uc010eds.2_Missense_Mutation_p.A465T|MAG_uc002nyz.2_Missense_Mutation_p.A490T	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	490	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CATCTGCACCGCGAGGAACCT	0.706												
CYP2B6	1555	broad.mit.edu	37	19	41512932	41512932	+	Missense_Mutation	SNP	T	T	C	rs140578107	by1000genomes	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:41512932T>C	uc002opr.1	+	3	614	c.607T>C	c.(607-609)Tac>Cac	p.Y203H	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	203					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.F202L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GAACTTGTTCTACCAGACTTT	0.512												
TULP2	7288	broad.mit.edu	37	19	49398651	49398651	+	Silent	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:49398651G>A	uc002pkz.2	-	4	472	c.321C>T	c.(319-321)cgC>cgT	p.R107R		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	107					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TCGGGAGGCCGCGCTCGCCCC	0.632												
TRIB2	28951	broad.mit.edu	37	2	12858629	12858629	+	Silent	SNP	T	T	C	rs144421263	byFrequency	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:12858629T>C	uc002rbv.4	+	0	1632	c.196T>C	c.(196-198)Ttg>Ctg	p.L66L	TRIB2_uc010yjp.2_Intron	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	Homo sapiens tribbles homolog 2 (Drosophila) (TRIB2), transcript variant 1, mRNA.	66	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAAATACTTATTGTTGGAACC	0.577											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IFT172	26160	broad.mit.edu	37	2	27682592	27682592	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:27682592G>T	uc002rku.3	-	23	2677	c.2626C>A	c.(2626-2628)Cac>Aac	p.H876N		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	876					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCGATGTAGTGATTAATGGCT	0.522												
PMS1	5378	broad.mit.edu	37	2	190728600	190728600	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:190728600C>T	uc002urh.4	+	9	2517	c.1988C>T	c.(1987-1989)gCc>gTc	p.A663V	PMS1_uc010zga.1_3'UTR|PMS1_uc010zgb.1_Missense_Mutation_p.A602V|PMS1_uc002urk.4_Missense_Mutation_p.A624V|PMS1_uc002uri.4_Intron|PMS1_uc010zgc.2_Missense_Mutation_p.A487V|PMS1_uc010zgd.2_Missense_Mutation_p.A487V|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Missense_Mutation_p.A624V|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Intron|PMS1_uc002urm.3_Non-coding_Transcript|PMS1_uc002urn.1_Missense_Mutation_p.A331V	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	663					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	p.A663V(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TGGAATTTGGCCCAGAAGCAC	0.363			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)				
AOX1	316	broad.mit.edu	37	2	201523898	201523898	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:201523898G>A	uc002uvx.3	+	27	3283	c.3182G>A	c.(3181-3183)cGt>cAt	p.R1061H	AOX1_uc010zhf.2_Missense_Mutation_p.R617H|AOX1_uc010fsu.3_Missense_Mutation_p.R427H	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	1061					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTGGTCAGCCGTGAATTAAGA	0.453												
ABCA12	26154	broad.mit.edu	37	2	215843155	215843156	+	Frame_Shift_Ins	INS	-	-	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:215843155_215843156insT	uc002vew.3	-	32	5232_5233	c.5012_5013insA	c.(5011-5013)aatfs	p.N1671fs	ABCA12_uc002vev.3_Frame_Shift_Ins_p.N1353fs|ABCA12_uc010zjn.2_Frame_Shift_Ins_p.N598fs	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1671					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCATAGCACTATTTTTTTGTGA	0.376												
NEU2	4759	broad.mit.edu	37	2	233899564	233899564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:233899564C>T	uc010zmn.2	+	1	940	c.940C>T	c.(940-942)Cga>Tga	p.R314*		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	314							exo-alpha-sialidase activity	p.P313P(1)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CCTCAACCCGCGACCTCCAGC	0.692												
COL6A3	1293	broad.mit.edu	37	2	238280769	238280769	+	Silent	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:238280769G>A	uc002vwl.2	-	8	4176	c.3891C>T	c.(3889-3891)aaC>aaT	p.N1297N	COL6A3_uc002vwo.2_Silent_p.N1091N|COL6A3_uc010znj.1_Silent_p.N690N|COL6A3_uc002vwq.3_Silent_p.N1091N|COL6A3_uc002vwr.3_Silent_p.N890N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1297	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.N1297N(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTGCACCGCGTTCTGCACTT	0.617												
NEU4	129807	broad.mit.edu	37	2	242758284	242758284	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:242758284C>G	uc002wcp.2	+	3	1898	c.1404C>G	c.(1402-1404)ttC>ttG	p.F468L	NEU4_uc010fzr.3_Missense_Mutation_p.F455L|NEU4_uc002wcm.3_Missense_Mutation_p.F455L|NEU4_uc002wco.2_Missense_Mutation_p.F455L|NEU4_uc002wcn.2_Missense_Mutation_p.F467L	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	455						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TTTGTACATTCTCCCTGCGTG	0.642												
RPN2	6185	broad.mit.edu	37	20	35865068	35865068	+	Silent	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr20:35865068G>A	uc002xgp.3	+	15	2143	c.1839G>A	c.(1837-1839)acG>acA	p.T613T	RPN2_uc002xgq.3_Silent_p.T581T	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	613					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GCAGTGTGACGTTTCTGGCTG	0.532												
TSHZ2	128553	broad.mit.edu	37	20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	rs141167641	by1000genomes	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr20:51870661G>A	uc002xwo.3	+	1	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	TSHZ2_uc021wex.1_Missense_Mutation_p.A219T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	222					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A222T(2)|p.A222V(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAGTGCAGCGCGGCCTATGA	0.562												
INPP5J	27124	broad.mit.edu	37	22	31524557	31524557	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr22:31524557C>T	uc003aju.4	+	8	2202	c.2110C>T	c.(2110-2112)Cag>Tag	p.Q704*	INPP5J_uc003ajw.3_Nonsense_Mutation_p.Q140*|INPP5J_uc003ajt.4_Nonsense_Mutation_p.Q336*|INPP5J_uc003ajv.4_Nonsense_Mutation_p.Q337*|INPP5J_uc003ajs.4_Nonsense_Mutation_p.Q337*|INPP5J_uc011alk.2_Nonsense_Mutation_p.Q637*|INPP5J_uc010gwg.3_Nonsense_Mutation_p.Q269*	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	704	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCACCGACTCCAGGTGACGCA	0.602												
PHF5A	84844	broad.mit.edu	37	22	41863525	41863525	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr22:41863525C>T	uc003bab.3	-	2	221	c.170G>A	c.(169-171)cGc>cAc	p.R57H	ACO2_uc003bac.3_5'Flank	NM_032758	NP_116147	Q7RTV0	PHF5A_HUMAN	Homo sapiens PHD finger protein 5A (PHF5A), mRNA.	57					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	p.R57S(1)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						GATCACACAGCGCCCCTGGTA	0.502												
NAGA	4668	broad.mit.edu	37	22	42456400	42456400	+	Silent	SNP	T	T	G			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr22:42456400T>G	uc003bbw.4	-	8	1664	c.1119A>C	c.(1117-1119)tcA>tcC	p.S373S		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	373					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGATGTCACCTGAGTAGACGT	0.557												
ATP2B2	491	broad.mit.edu	37	3	10413708	10413708	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:10413708G>A	uc003bvt.3	-	11	1883	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	ATP2B2_uc003bvv.3_Missense_Mutation_p.R437C|ATP2B2_uc003bvw.3_Missense_Mutation_p.R437C|ATP2B2_uc010hdo.3_Missense_Mutation_p.R187C	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	482					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCCAGGTGGCGTACCAGGTTG	0.587												
RRP9	9136	broad.mit.edu	37	3	51969702	51969702	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:51969702C>T	uc003dbw.1	-	8	781	c.742G>A	c.(742-744)Gca>Aca	p.A248T		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	248					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CTGCGGAATGCCAGACCCTAA	0.592												
RETNLB	84666	broad.mit.edu	37	3	108474644	108474644	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:108474644C>T	uc003dxh.2	-	2	415	c.317G>A	c.(316-318)cGc>cAc	p.R106H		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	106					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GTGGCAGCAGCGGGCAGTGGT	0.552												
SEC62	7095	broad.mit.edu	37	3	169694809	169694809	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:169694809C>A	uc003fgg.3	+	2	252	c.221C>A	c.(220-222)aCc>aAc	p.T74N	SEC62_uc003fgh.3_Missense_Mutation_p.T74N	NM_003262	NP_003253	Q99442	SEC62_HUMAN	Homo sapiens SEC62 homolog (S. cerevisiae) (SEC62), mRNA.	74					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TTATTTACAACCAGGGAGTCT	0.348												
DKK2	27123	broad.mit.edu	37	4	107846994	107846994	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr4:107846994C>T	uc003hyi.3	-	1	1040	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.R112Q	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	112	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.R112*(1)|p.R112G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CATGCCATCTCGGTGGCAGCG	0.498												
SH3RF2	153769	broad.mit.edu	37	5	145393517	145393517	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr5:145393517C>T	uc003lnt.3	+	4	1190	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	SH3RF2_uc011dbl.1_Missense_Mutation_p.R318C	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	318							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.R318C(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTTCAGGGCGCCATATGGT	0.577												
OR14J1	442191	broad.mit.edu	37	6	29275286	29275286	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:29275286G>A	uc011dln.2	+	0	820	c.820G>A	c.(820-822)Gta>Ata	p.V274I		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TGTATTCTCCGTATTCTATAC	0.443												
HLA-DOA	3111	broad.mit.edu	37	6	32975995	32975995	+	Silent	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:32975995G>A	uc003ocr.3	-	1	202	c.126C>T	c.(124-126)taC>taT	p.Y42Y	HLA-DOA_uc010juj.3_Silent_p.Y12Y|HLA-DOA_uc010jui.3_Silent_p.Y42Y	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	42	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCGAGGCGCCGTAAGACTGGT	0.542												
CUL9	23113	broad.mit.edu	37	6	43163923	43163923	+	Silent	SNP	C	C	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:43163923C>A	uc003ouk.3	+	9	2580	c.2505C>A	c.(2503-2505)atC>atA	p.I835I	CUL9_uc003oul.3_Silent_p.I835I|CUL9_uc010jyk.3_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	835					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCGCCAGCATCGACTCAGCCA	0.567												
CRISP3	10321	broad.mit.edu	37	6	49696554	49696554	+	Silent	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:49696554G>A	uc021zai.1	-	7	784	c.696C>T	c.(694-696)taC>taT	p.Y232Y	CRISP3_uc003ozs.3_Silent_p.Y222Y	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	209					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AGAGATCTTCGTACTTGCAAC	0.358												
ORC3	23595	broad.mit.edu	37	6	88318866	88318866	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:88318866A>T	uc003pmg.3	+	6	734	c.632A>T	c.(631-633)cAg>cTg	p.Q211L	ORC3_uc011dzl.2_Missense_Mutation_p.Q211L|ORC3_uc011dzm.2_Missense_Mutation_p.Q211L|ORC3_uc011dzn.2_Non-coding_Transcript|ORC3_uc003pmh.3_Missense_Mutation_p.Q211L|ORC3_uc011dzp.2_Missense_Mutation_p.Q68L|ORC3_uc011dzo.2_Missense_Mutation_p.Q68L	NM_181837	NP_862820	Q9UBD5	ORC3_HUMAN	Homo sapiens origin recognition complex, subunit 3 (ORC3), transcript variant 1, mRNA.	211					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AGCCAATGGCAGTCTCCTCCT	0.398												
ARID1B	57492	broad.mit.edu	37	6	157522507	157522507	+	Silent	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:157522507C>T	uc003qqp.3	+	16	4740	c.4740C>T	c.(4738-4740)acC>acT	p.T1580T	ARID1B_uc003qqo.3_Silent_p.T1593T|ARID1B_uc003qqn.3_Silent_p.T1633T	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1580	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCCAGGTCACCGGGCCACCAC	0.547												
OSBPL3	26031	broad.mit.edu	37	7	24874215	24874215	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:24874215G>A	uc003sxf.3	-	14	2041	c.1636C>T	c.(1636-1638)Ccg>Tcg	p.P546S	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Missense_Mutation_p.P510S|OSBPL3_uc003sxh.3_Missense_Mutation_p.P515S|OSBPL3_uc003sxi.3_Missense_Mutation_p.P479S|OSBPL3_uc003sxj.1_Missense_Mutation_p.P275S|OSBPL3_uc003sxk.1_Missense_Mutation_p.P244S	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	546					lipid transport		lipid binding|protein binding	p.P546P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AGCTCCACCGGCATGGCCACC	0.632												
NSUN5	55695	broad.mit.edu	37	7	72721702	72721702	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:72721702C>T	uc003txw.3	-	2	346	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.R90Q|NSUN5_uc003txv.3_Missense_Mutation_p.R90Q|NSUN5_uc003txx.3_Intron	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	90							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				AGCCTTCCATCGGCCCCCACC	0.552												
ABCB4	5244	broad.mit.edu	37	7	87079357	87079357	+	Missense_Mutation	SNP	C	C	T	rs147998447	byFrequency	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:87079357C>T	uc003uiv.1	-	7	836	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	ABCB4_uc003uiw.1_Missense_Mutation_p.A254T|ABCB4_uc003uix.1_Missense_Mutation_p.A254T	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	254	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.A254A(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCTGCCACGGCGCCTGCTTTT	0.478												
ORAI2	80228	broad.mit.edu	37	7	102086975	102086975	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:102086975G>A	uc010lhz.1	+	3	476	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	ORAI2_uc003uzj.2_Missense_Mutation_p.V81M|ORAI2_uc003uzk.2_Missense_Mutation_p.V81M|ORAI2_uc011kks.1_Missense_Mutation_p.V4M	NM_001126340	NP_116220	Q96SN7	ORAI2_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA.	81						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CATGGTGGAGGTGCAGCTGGA	0.677												
SLC26A3	1811	broad.mit.edu	37	7	107431671	107431671	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:107431671G>A	uc003ver.2	-	4	603	c.392C>T	c.(391-393)cCg>cTg	p.P131L	SLC26A3_uc003ves.2_Missense_Mutation_p.P96L	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	131			P -> R (in DIAR1).		excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ACTCAGAATCGGAAACGGACC	0.428												
EZH2	2146	broad.mit.edu	37	7	148515006	148515009	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:148515006_148515009delTTCT	uc003wfd.2	-	9	1378_1381	c.1185_1188delAGAA	c.(1183-1188)aaagaafs	p.K395fs	EZH2_uc022aov.1_Frame_Shift_Del_p.K356fs|EZH2_uc011kug.2_Frame_Shift_Del_p.K386fs|EZH2_uc003wfb.2_Frame_Shift_Del_p.K400fs|EZH2_uc003wfc.2_Frame_Shift_Del_p.K356fs|EZH2_uc011kuh.2_Frame_Shift_Del_p.K386fs|EZH2_uc011kui.2_Frame_Shift_Del_p.K395fs|EZH2_uc011kuj.2_Non-coding_Transcript	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	395					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.E401fs*22(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCTCTTCTTCTTCTTTATCATTGT	0.456			Mis		DLBCL							
BMP1	649	broad.mit.edu	37	8	22069181	22069181	+	Silent	SNP	A	A	G			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr8:22069181A>G	uc003xbg.3	+	19	3167	c.2901A>G	c.(2899-2901)aaA>aaG	p.K967K	BMP1_uc011kzc.2_Silent_p.K716K|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	967	CUB 5.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCACCAAAAAAGGTTTCCACC	0.577												
EYA1	2138	broad.mit.edu	37	8	72156896	72156896	+	Missense_Mutation	SNP	C	C	A	rs145219836	by1000genomes	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr8:72156896C>A	uc003xyu.3	-	11	1722	c.1082G>T	c.(1081-1083)cGa>cTa	p.R361L	EYA1_uc003xyt.4_Missense_Mutation_p.R328L|EYA1_uc003xyr.4_Intron|EYA1_uc010lzf.3_Missense_Mutation_p.R288L|EYA1_uc003xys.4_Missense_Mutation_p.R361L|EYA1_uc011lfe.2_Missense_Mutation_p.R355L|EYA1_uc003xyv.3_Missense_Mutation_p.R239L	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	361					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.R361L(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTCTTCCATTCGCAGTCCAAG	0.323												
DECR1	1666	broad.mit.edu	37	8	91031335	91031335	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr8:91031335G>A	uc003yek.1	+	3	493	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	DECR1_uc011lgc.1_Missense_Mutation_p.V109M|DECR1_uc011lgd.1_Non-coding_Transcript	NM_001359	NP_001350	Q16698	DECR_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 1, mitochondrial (DECR1), nuclear gene encoding mitochondrial protein, mRNA.	118					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TCAGTGTGATGTGAGGGATCC	0.363												
AQP7	364	broad.mit.edu	37	9	33385656	33385656	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr9:33385656T>A	uc003zst.3	-	6	906	c.734A>T	c.(733-735)cAg>cTg	p.Q245L	AQP7_uc003zsu.1_Missense_Mutation_p.Q188L|AQP7_uc010mjs.2_Missense_Mutation_p.Q153L|AQP7_uc010mjt.2_Missense_Mutation_p.Q153L|AQP7_uc011lny.1_Missense_Mutation_p.Q244L|AQP7_uc003zss.3_Missense_Mutation_p.Q153L|AQP7_uc011lnz.1_Missense_Mutation_p.Q153L|AQP7_uc011loa.1_Silent_p.T113T|AQP7_uc011lnx.1_Missense_Mutation_p.Q245L	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	245					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	p.Q245L(2)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCTGAAGACCTGTTTGCCCCA	0.597												
PRDM12	59335	broad.mit.edu	37	9	133543671	133543671	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr9:133543671G>A	uc004bzt.1	+	2	601	c.541G>A	c.(541-543)Ggc>Agc	p.G181S		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	181	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I180I(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGTCCAGATCGGCACCAGCAT	0.582