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
EPHA10	284656	broad.mit.edu	37	1	38197144	38197144	+	Silent	SNP	C	C	T	rs77925917	by1000genomes	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:38197144C>T	uc009vvi.3	-	6	1688	c.1602G>A	c.(1600-1602)ccG>ccA	p.P534P	EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	534	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.S534Y(1)|p.P535P(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGATGGCCCCGGGGAAGCGG	0.597												
TMEM69	51249	broad.mit.edu	37	1	46159245	46159245	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:46159245T>C	uc001cor.1	+	2	608	c.412T>C	c.(412-414)Tct>Cct	p.S138P		NM_016486	NP_057570	Q5SWH9	TMM69_HUMAN	Homo sapiens transmembrane protein 69 (TMEM69), mRNA.	138						integral to membrane				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					CAGTTTCCTATCTTTCTTGGG	0.443												
KIAA1324	57535	broad.mit.edu	37	1	109737164	109737164	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:109737164C>T	uc021orb.1	+	14	2290	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	KIAA1324_uc009wex.2_Missense_Mutation_p.S640F|KIAA1324_uc010ovg.2_Missense_Mutation_p.S588F|KIAA1324_uc009wey.3_Missense_Mutation_p.S603F|KIAA1324_uc001dwr.3_Missense_Mutation_p.S340F|KIAA1324_uc001dws.1_5'Flank|KIAA1324_uc009wez.1_5'Flank	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	690					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGCTTCACTTCCAAAGGGCTG	0.493												
CEP170	9859	broad.mit.edu	37	1	243332957	243332957	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:243332957A>G	uc021plo.1	-	11	2224	c.1816T>C	c.(1816-1818)Ttt>Ctt	p.F606L	CEP170_uc021plp.1_Missense_Mutation_p.F508L|CEP170_uc021plq.1_Missense_Mutation_p.F508L	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	606						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GGTGCAGAAAATTCCATTATC	0.398												
OGDHL	55753	broad.mit.edu	37	10	50955213	50955213	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr10:50955213C>G	uc009xog.3	-	7	1144	c.1110G>C	c.(1108-1110)gaG>gaC	p.E370D	OGDHL_uc001jie.3_Missense_Mutation_p.E343D|OGDHL_uc010qgt.2_Missense_Mutation_p.E286D|OGDHL_uc010qgu.2_Missense_Mutation_p.E134D|OGDHL_uc009xoh.2_Missense_Mutation_p.E134D	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	343					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.E343E(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTTGATCCTCTCATGGTACA	0.587												
ENTPD1	953	broad.mit.edu	37	10	97607463	97607463	+	Silent	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr10:97607463G>A	uc010qoj.2	+	7	1173	c.1110_splice	c.e7+1	p.G370_splice	ENTPD1_uc001kli.4_Splice_Site_p.G365_splice|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Splice_Site_p.G250_splice|ENTPD1_uc010qol.2_Splice_Site_p.G250_splice|ENTPD1_uc001klh.4_Splice_Site_p.G358_splice|ENTPD1_uc010qom.2_Splice_Site_p.G317_splice|ENTPD1_uc010qon.2_Splice_Site_p.G220_splice|ENTPD1_uc009xva.3_Splice_Site_p.G220_splice	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	358					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGGATTTTGGGGTAAGTTTGT	0.408												
ACADSB	36	broad.mit.edu	37	10	124813243	124813243	+	Silent	SNP	T	T	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr10:124813243T>C	uc001lhb.3	+	10	1378	c.1261T>C	c.(1261-1263)Ttg>Ctg	p.L421L	ACADSB_uc010qub.2_Silent_p.L319L	NM_001609	NP_001600	P45954	ACDSB_HUMAN	Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	421					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CAACATCCAGTTGAACACCAT	0.433												
MMP26	56547	broad.mit.edu	37	11	5012728	5012728	+	Splice_Site	SNP	T	T	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr11:5012728T>C	uc001lzv.3	+	4	613	c.595_splice	c.e4+2	p.G199_splice		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	199					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAGACACTGGTAAATGCCTTG	0.483												
GTF2H1	2965	broad.mit.edu	37	11	18369162	18369162	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr11:18369162delG	uc001moi.2	+	8	1559	c.865delG	c.(865-867)gctfs	p.A289fs	GTF2H1_uc001moh.2_Frame_Shift_Del_p.A289fs|GTF2H1_uc009yhm.2_Frame_Shift_Del_p.A173fs	NM_001142307	NP_005307	P32780	TF2H1_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 1, 62kDa (GTF2H1), transcript variant 2, mRNA.	289					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TGTGCCATCTGCTTCCAATTC	0.373								Nucleotide excision repair (NER)				
DDN	23109	broad.mit.edu	37	12	49391285	49391285	+	Silent	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr12:49391285C>T	uc001rsv.1	-	1	1392	c.1374G>A	c.(1372-1374)acG>acA	p.T458T		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	458	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TCACTACGCACGTGGCGTCAA	0.642												
TMBIM4	51643	broad.mit.edu	37	12	66531936	66531937	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr12:66531936_66531937insA	uc009zqr.3	-	7	737_738	c.661_662insT	c.(661-663)tatfs	p.Y221fs	LLPH_uc010ssx.2_Intron|TMBIM4_uc001stc.3_Frame_Shift_Ins_p.Y174fs|TMBIM4_uc001std.3_Frame_Shift_Ins_p.Y143fs|TMBIM4_uc001stf.3_Frame_Shift_Ins_p.L162fs|TMBIM4_uc009zqs.3_Frame_Shift_Ins_p.F158fs	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	Homo sapiens transmembrane BAX inhibitor motif containing 4 (TMBIM4), mRNA.	174						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TATCTCACTATAAAAAAAAAAC	0.351												
TSPAN19	144448	broad.mit.edu	37	12	85411285	85411285	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr12:85411285T>A	uc009zsj.3	-	6	645	c.544A>T	c.(544-546)Act>Tct	p.T182S		NM_001100917	NP_001094387	P0C672	TSN19_HUMAN	Homo sapiens tetraspanin 19 (TSPAN19), mRNA.	182						integral to membrane				ovary(1)	1						TTTCTTAAAGTTGACTTTGTG	0.343												
HCAR3	8843	broad.mit.edu	37	12	123200903	123200903	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr12:123200903G>A	uc001ucy.4	-	0	537	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	HCAR1_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	128						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R128L(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	TGGACCACCCGGAAATACCTG	0.562												
TRPC4	7223	broad.mit.edu	37	13	38320377	38320377	+	Silent	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr13:38320377G>A	uc010abx.3	-	2	829	c.594C>T	c.(592-594)aaC>aaT	p.N198N	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Silent_p.N198N|TRPC4_uc001uws.3_Silent_p.N198N|TRPC4_uc010tey.2_Silent_p.N198N|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Silent_p.N198N	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	198					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCTTGTAGATGTTGAGTCTGG	0.532												
CDH24	64403	broad.mit.edu	37	14	23524268	23524268	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr14:23524268C>T	uc001wil.3	-	3	756	c.496_splice	c.e3+1	p.G166_splice	CDH24_uc010akf.3_Splice_Site_p.G166_splice|CDH24_uc001win.3_Splice_Site_p.G166_splice	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	166	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGGTGCTCACCGACATTGGAC	0.552											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF710	374655	broad.mit.edu	37	15	90610834	90610834	+	Silent	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr15:90610834C>T	uc002bov.2	+	1	588	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	Homo sapiens zinc finger protein 710 (ZNF710), mRNA.	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AGAGCAGCGCCGTCAAGATGA	0.687												
WDR90	197335	broad.mit.edu	37	16	703624	703624	+	Missense_Mutation	SNP	T	T	G			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr16:703624T>G	uc002cii.1	+	11	1387	c.1333T>G	c.(1333-1335)Tgc>Ggc	p.C445G	WDR90_uc002cig.1_Missense_Mutation_p.C445G|WDR90_uc002cih.1_Missense_Mutation_p.C446G|WDR90_uc002cij.1_Non-coding_Transcript|WDR90_uc002cik.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	445										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GACCGGGCGGTGCTTGTGCCT	0.657												
IGFALS	3483	broad.mit.edu	37	16	1842222	1842222	+	Missense_Mutation	SNP	G	G	A	rs145465654		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr16:1842222G>A	uc010uvn.2	-	1	392	c.311C>T	c.(310-312)aCg>aTg	p.T104M	IGFALS_uc002cmy.3_Missense_Mutation_p.T66M|IGFALS_uc010uvo.2_5'UTR	NM_001146006	NP_001139478	P35858	ALS_HUMAN	Homo sapiens insulin-like growth factor binding protein, acid labile subunit (IGFALS), transcript variant 1, mRNA.	66					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						AGGCAGGCGCGTGAGGTTCCT	0.692												
RBFOX1	54715	broad.mit.edu	37	16	7568147	7568148	+	Splice_Site	INS	-	-	G			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr16:7568147_7568148insG	uc002cys.2	+	5	1016	c.28_splice	c.e5-1	p.G10_splice	RBFOX1_uc010buf.1_Splice_Site_p.G10_splice|RBFOX1_uc002cyr.1_Splice_Site_p.G10_splice|RBFOX1_uc002cyt.2_Splice_Site_p.G10_splice|RBFOX1_uc010uxz.1_Splice_Site_p.G53_splice|RBFOX1_uc010uya.1_Splice_Site_p.G46_splice|RBFOX1_uc002cyv.1_Splice_Site_p.G10_splice|RBFOX1_uc010uyb.1_Splice_Site_p.G10_splice|RBFOX1_uc002cyw.2_Splice_Site_p.G30_splice|RBFOX1_uc002cyy.2_Splice_Site_p.G30_splice|RBFOX1_uc002cyx.2_Splice_Site_p.G30_splice|RBFOX1_uc010uyc.1_Splice_Site_p.G30_splice	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	10					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTGATTTTTCAGGGTAATCAGG	0.574												
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	G	A	rs150520281	by1000genomes	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr16:21817457G>A	uc010vbl.1	-	6	603	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CTTACATCCAGCTTGAGTAGT	0.259												
TP53	7157	broad.mit.edu	37	17	7577096	7577097	+	Missense_Mutation	DNP	TC	TC	GG			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:7577096_7577097TC>GG	uc002gim.2	-	7	1035_1036	c.841_842GA>CC	c.(841-843)gac>CCc	p.D281P	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.D281P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.D149P|TP53_uc010cnf.1_Missense_Mutation_p.D149P|TP53_uc002gii.1_Missense_Mutation_p.D149P|TP53_uc010cni.1_Missense_Mutation_p.D281P|TP53_uc010cnh.1_Missense_Mutation_p.D281P|TP53_uc002gij.2_Missense_Mutation_p.D281P|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.R280T(61)|p.D281N(51)|p.R280K(47)|p.D281H(38)|p.D281E(28)|p.D281Y(27)|p.D281G(20)|p.R280G(19)|p.R280S(15)|p.R280I(14)|p.D281V(9)|p.R280fs*65(8)|p.R280*(8)|p.0?(8)|p.D281D(5)|p.D281fs*63(4)|p.R280_D281delRD(4)|p.D281A(4)|p.D281>AGPY(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.R280fs*62(2)|p.F270_D281del12(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.D281R(2)|p.D281_R282delDR(2)|p.D281_R282>EW(2)|p.C275_R283delCACPGRDRR(2)|p.A276fs*64(1)|p.D281fs*24(1)|p.G279_R280delGR(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.S269fs*21(1)|p.C275fs*20(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)		TGTGCGCCGGTCTCTCCCAGGA	0.550		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)		
DHRS7B	25979	broad.mit.edu	37	17	21094331	21094333	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:21094331_21094333delGAA	uc002gyo.3	+	6	887_889	c.843_845delGAA	c.(841-846)gggaag>ggg	p.K285del		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7B (DHRS7B), mRNA.	285						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGCTGTGGGGAAGAAGAAGAAA	0.507												
FOXN1	8456	broad.mit.edu	37	17	26851529	26851529	+	Silent	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:26851529C>T	uc010crm.3	+	2	330	c.132C>T	c.(130-132)gcC>gcT	p.A44A	FOXN1_uc002hbj.3_Silent_p.A44A	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	44					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGAAGCATGCCGGCTTCAGCT	0.637												
ANKRD13B	124930	broad.mit.edu	37	17	27939701	27939701	+	Silent	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:27939701G>A	uc002hei.3	+	12	1556	c.1443G>A	c.(1441-1443)gcG>gcA	p.A481A	ANKRD13B_uc002heh.3_Silent_p.A349A|ANKRD13B_uc002hej.3_Non-coding_Transcript	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	Homo sapiens ankyrin repeat domain 13B (ANKRD13B), mRNA.	481										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						TCTCCCCAGCGTTGTTCGAGG	0.751												
RBFA	79863	broad.mit.edu	37	18	77794598	77794598	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr18:77794598C>T	uc002lns.3	+	0	253	c.103C>T	c.(103-105)Cac>Tac	p.H35Y	TXNL4A_uc010drg.3_5'Flank|RBFA_uc010drh.3_Missense_Mutation_p.H35Y|RBFA_uc010dri.2_Non-coding_Transcript	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	Homo sapiens ribosome binding factor A (putative) (RBFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	35					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GCGGGGACTTCACTGCTCTGC	0.662												
MAST1	22983	broad.mit.edu	37	19	12977473	12977473	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:12977473C>T	uc002mvm.3	+	17	2164	c.2036C>T	c.(2035-2037)tCa>tTa	p.S679L		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	679	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCAGCCCGCTCAGACAGGTAT	0.597												
CYP4F8	11283	broad.mit.edu	37	19	15734860	15734860	+	Silent	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:15734860G>A	uc002nbi.3	+	9	1132	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E	CYP4F8_uc010xoj.2_Silent_p.E169E	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	357					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCCGGCAGGAGGTGCAAGAGC	0.582												
PSG4	5675	broad.mit.edu	37	19	43420415	43420415	+	Nonsense_Mutation	SNP	G	G	A	rs112289603	byFrequency	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:43420415G>A	uc002ovj.1	-	1	388	c.289C>T	c.(289-291)Cga>Tga	p.R97*	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Nonsense_Mutation_p.R97*	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	98	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ACTGTTTCTCGTCCACTGTAG	0.458												
DKKL1	27120	broad.mit.edu	37	19	49867855	49867855	+	Silent	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:49867855C>T	uc002pnk.3	+	1	241	c.27C>T	c.(25-27)ccC>ccT	p.P9P	TEAD2_uc002pni.3_5'Flank|TEAD2_uc002pnj.3_5'Flank|TEAD2_uc010yao.2_5'Flank|TEAD2_uc010emw.3_5'Flank|DKKL1_uc021uxk.1_5'UTR|DKKL1_uc021uxl.1_Silent_p.P9P	NM_014419	NP_001184231	Q9UK85	DKKL1_HUMAN	Homo sapiens dickkopf-like 1 (DKKL1), transcript variant 1, mRNA.	9					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CACCTGCCCCCGCAAGGCGGC	0.677												
SERTAD2	9792	broad.mit.edu	37	2	64863336	64863336	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:64863336A>T	uc021viq.1	-	0	670	c.670T>A	c.(670-672)Tct>Act	p.S224T	SERTAD2_uc002sde.2_Missense_Mutation_p.S224T	NM_014755	NP_055570	Q14140	SRTD2_HUMAN	Homo sapiens SERTA domain containing 2 (SERTAD2), mRNA.	224					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						CCAGGCAGAGAGTCCATCAGT	0.527												
TTC31	64427	broad.mit.edu	37	2	74718780	74718780	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:74718780A>T	uc002slt.2	+	7	880	c.857A>T	c.(856-858)cAg>cTg	p.Q286L	TTC31_uc002sls.2_Missense_Mutation_p.Q215L|TTC31_uc002slu.2_Missense_Mutation_p.Q142L	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	286							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GAGAGGCCCCAGCAGAGTCCA	0.597												
IL18RAP	8807	broad.mit.edu	37	2	103067331	103067331	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:103067331G>A	uc002tbx.3	+	10	1718	c.1234G>A	c.(1234-1236)Gta>Ata	p.V412I	IL18RAP_uc010fiz.3_Missense_Mutation_p.V270I	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	412	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.F411F(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGATGCTTTCGTATCCTATGC	0.338												
DDX11L2	84771	broad.mit.edu	37	2	114357557	114357557	+	Nonstop_Mutation	SNP	A	A	G	rs115341812	by1000genomes	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:114357557A>G	uc010yxx.1	-	2	709	c.382T>C	c.(382-384)Tag>Cag	p.*128Q						Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																		GCCTACTTCTAGTGAAACTGG	0.567												
ZNF385B	151126	broad.mit.edu	37	2	180634432	180634432	+	Silent	SNP	G	G	A	rs61747266	byFrequency	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:180634432G>A	uc002unn.4	-	2	655	c.51C>T	c.(49-51)aaC>aaT	p.N17N		NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	17						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CAGGCCTGTCGTTCTTTATCC	0.463												
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma							
IRS1	3667	broad.mit.edu	37	2	227661259	227661259	+	Nonsense_Mutation	SNP	G	G	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:227661259G>C	uc021vxn.1	-	0	2196	c.2196C>G	c.(2194-2196)taC>taG	p.Y732*	IRS1_uc002voh.4_Nonsense_Mutation_p.Y732*	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	732					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.D731E(1)|p.D731G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ACATGTTCATGTAGTCACCTG	0.597											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr20:29628278G>A	uc010ztl.1	+	2	222	c.190G>A	c.(190-192)Gca>Aca	p.A64T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A16T					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I64T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373												
APOBEC3F	60489	broad.mit.edu	37	22	39479797	39479797	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr22:39479797C>T	uc021wpr.1	+	4	936	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	APOBEC3F_uc003awx.3_Missense_Mutation_p.R215W|APOBEC3F_uc003awy.3_Missense_Mutation_p.R148W	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	215					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GGTCAGAGGACGGCATGAGAC	0.522												
RNF123	63891	broad.mit.edu	37	3	49735348	49735348	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr3:49735348C>T	uc003cxh.3	+	5	459	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.3_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	125	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGGCACCATCCGCTCTACCAC	0.557												
EPHA3	2042	broad.mit.edu	37	3	89462354	89462354	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr3:89462354T>C	uc003dqy.3	+	9	2051	c.1826T>C	c.(1825-1827)gTt>gCt	p.V609A	EPHA3_uc021xbf.1_Missense_Mutation_p.V609A	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	609						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACCCAAGCTGTTCATGAGTTT	0.423										TSP Lung(6;0.00050)		
SDHAP2	727956	broad.mit.edu	37	3	195410687	195410687	+	Missense_Mutation	SNP	T	T	A	rs6583274	by1000genomes	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr3:195410687T>A	uc003fuw.3	+	12	1778	c.584T>A	c.(583-585)gTg>gAg	p.V195E	SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		CCCTTTGAGGTGCACTGGAGG	0.567												
FRAS1	80144	broad.mit.edu	37	4	79429983	79429983	+	Silent	SNP	C	C	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr4:79429983C>A	uc003hlb.2	+	62	10043	c.9603C>A	c.(9601-9603)ccC>ccA	p.P3201P	FRAS1_uc003hlc.1_Silent_p.P203P	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3196					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGTCACCCCCTGCGACCCTC	0.567												
COPS4	51138	broad.mit.edu	37	4	83970319	83970319	+	Missense_Mutation	SNP	T	T	G			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr4:83970319T>G	uc003hoa.3	+	3	294	c.155_splice	c.e3-1	p.M52_splice	COPS4_uc010ijx.3_Splice_Site_p.M52_splice	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis) (COPS4), mRNA.	52					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TTTAAACAAGTGGTAAATGAG	0.318												
TAS2R1	50834	broad.mit.edu	37	5	9629276	9629276	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:9629276delT	uc003jem.1	-	0	1188	c.869delA	c.(868-870)aagfs	p.K290fs		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	290					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GAGGAGGAACTTTTTTGCATT	0.393												
RGNEF	64283	broad.mit.edu	37	5	73128199	73128199	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:73128199C>T	uc010izf.3	+	9	1237	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L	RGNEF_uc011csq.2_Missense_Mutation_p.P354L|RGNEF_uc003kcy.1_Missense_Mutation_p.P354L|RGNEF_uc021yam.1_Missense_Mutation_p.P354L|RGNEF_uc011csr.2_Missense_Mutation_p.P41L	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	354					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TCCAAGCCGCCCTCGACATTG	0.448												
ENC1	8507	broad.mit.edu	37	5	73931841	73931841	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:73931841T>C	uc003kdc.4	-	1	1601	c.470A>G	c.(469-471)gAt>gGt	p.D157G	ENC1_uc011css.2_Missense_Mutation_p.D84G|ENC1_uc021yao.1_Missense_Mutation_p.D157G	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	157					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTGGTGTGCATCAGACAGCAG	0.517												
PCDHGC5	8641	broad.mit.edu	37	5	140769114	140769114	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:140769114G>A	uc003lkc.2	+	0	1663	c.1663G>A	c.(1663-1665)Gac>Aac	p.D555N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	559	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACCGCAACGACAATGCGCC	0.672												
ELOVL2	54898	broad.mit.edu	37	6	10995345	10995345	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr6:10995345C>T	uc003mzp.4	-	4	561	c.400G>A	c.(400-402)Gtt>Att	p.V134I		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA.	134					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TTCCGCAAAACGAAGAAAATT	0.393												
ITPR3	3710	broad.mit.edu	37	6	33654271	33654271	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr6:33654271G>A	uc021ywr.1	+	42	6178	c.5954G>A	c.(5953-5955)cGc>cAc	p.R1985H		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1985					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGCAAGTACCGCATGGATCTG	0.547												
SNAI2	6591	broad.mit.edu	37	8	49832679	49832679	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr8:49832679T>C	uc003xqp.3	-	1	576	c.401A>G	c.(400-402)aAt>aGt	p.N134S		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	134					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N134D(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ATAGGTCTTATTGCATAAATT	0.438												
ZFHX4	79776	broad.mit.edu	37	8	77617855	77617855	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr8:77617855C>T	uc003yau.2	+	1	1919	c.1532C>T	c.(1531-1533)tCa>tTa	p.S511L	ZFHX4_uc003yat.1_Missense_Mutation_p.S511L|ZFHX4_uc003yaw.1_Missense_Mutation_p.S511L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	511						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTCCTTTATCATCCAGTGTG	0.413										HNSCC(33;0.089)		
ZFHX4	79776	broad.mit.edu	37	8	77617897	77617897	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr8:77617897C>T	uc003yau.2	+	1	1961	c.1574C>T	c.(1573-1575)tCc>tTc	p.S525F	ZFHX4_uc003yat.1_Missense_Mutation_p.S525F|ZFHX4_uc003yaw.1_Missense_Mutation_p.S525F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	525	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACCTCGTCCTCCTCGGCGACT	0.433										HNSCC(33;0.089)		
CEL	1056	broad.mit.edu	37	9	135946657	135946658	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr9:135946657_135946658insC	uc010naa.1	+	10	1793_1794	c.1777_1778insC	c.(1777-1779)gccfs	p.A593fs		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	590	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGACTCCGGGGCCCCCCCCGTG	0.817												
NPDC1	56654	broad.mit.edu	37	9	139934426	139934426	+	Silent	SNP	G	G	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr9:139934426G>C	uc004cks.2	-	6	1789	c.1116C>G	c.(1114-1116)gcC>gcG	p.A372A	NPDC1_uc004ckt.2_Silent_p.A294A	NM_015392	NP_056207	Q9NQX5	NPDC1_HUMAN	Homo sapiens neural proliferation, differentiation and control, 1 (NPDC1), mRNA.	294						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CACTCACCGGGGCCAGGCCCG	0.657												
CSF2RA	1438	broad.mit.edu	37	X	1413266	1413266	+	Missense_Mutation	SNP	C	C	T	rs149974131	byFrequency	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chrX:1413266C>T	uc010nct.2	+	8	1014	c.692C>T	c.(691-693)aCg>aTg	p.T231M	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.T231M|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.T231M|CSF2RA_uc004cpo.2_Missense_Mutation_p.T231M|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.T98M|CSF2RA_uc004cpp.2_Missense_Mutation_p.T231M|CSF2RA_uc010ncv.2_Missense_Mutation_p.T231M|CSF2RA_uc004cpr.2_Missense_Mutation_p.T231M	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	231						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGCAACACGACGCACTGCCTC	0.572												
ATRX	546	broad.mit.edu	37	X	76888787	76888792	+	In_Frame_Del	DEL	ATGATC	ATGATC	-			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chrX:76888787_76888792delATGATC	uc004ecp.4	-	18	5269_5274	c.5037_5042delGATCAT	c.(5035-5043)atgatcata>ata	p.MI1679del	ATRX_uc004ecq.4_In_Frame_Del_p.MI1641del|ATRX_uc004eco.4_In_Frame_Del_p.MI1464del	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1679	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTCATAGCCTATGATCATAACACCAC	0.398			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome					
