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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ARID5B	84159	broad.mit.edu	37	10	63850684	63850684	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr10:63850684C>T	uc001jlt.2	+	9	1918	c.1462C>T	c.(1462-1464)Ctc>Ttc	p.L488F	ARID5B_uc001jlu.2_Missense_Mutation_p.L245F	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	488					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CCCTGAGCCTCTCCCAGCAGC	0.428000														25			22		0	0	0.00047179	0	0
LPCAT1	79888	broad.mit.edu	37	5	1494950	1494950	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr5:1494950G>A	uc003jcm.3	-	2	475	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	120					phospholipid biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AGCGCCTGCCGCCCCTTCACG	0.652000														18			8		0	0	0.000673444	0	0
PRELP	5549	broad.mit.edu	37	1	203453021	203453021	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr1:203453021C>T	uc001gzs.3	+	1	909	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	PRELP_uc001gzt.3_Missense_Mutation_p.P237S	NM_002725	NP_958505	P51888	PRELP_HUMAN	Homo sapiens proline/arginine-rich end leucine-rich repeat protein (PRELP), transcript variant 1, mRNA.	237					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.P237S(2)|p.P237P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGAAAGATGCCGCCCAGGGT	0.552000														149			5		0	0	0.00116845	0	0
IQGAP3	128239	broad.mit.edu	37	1	156531700	156531700	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr1:156531700C>T	uc001fpf.3	-	9	1046	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	IQGAP3_uc009wsb.1_Missense_Mutation_p.R281Q	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	324					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCACCCCTCGCAGGGCCAG	0.562000														28			9		0	0	0.000673444	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163215	163215	+	RNA	SNP	G	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr8:163215G>A	uc010lra.3	-	3		c.918C>T			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		AGATACACATGTATTTAGAGT	0.323000														68			5		0	0	0.000157383	0	0
PTPRT	11122	broad.mit.edu	37	20	40828021	40828021	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr20:40828021C>A	uc002xkg.3	-	15	2534	c.2350G>T	c.(2350-2352)Gcc>Tcc	p.A784S	PTPRT_uc010ggj.3_Missense_Mutation_p.A803S|PTPRT_uc010ggi.3_5'UTR	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	784					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGCTTCTTGGCCAGCTTCCTT	0.552000														118			38		2.54651e-27	4.00974e-26	0.00148497	1	0
MST1P2	11209	broad.mit.edu	37	1	16975045	16975045	+	RNA	SNP	G	A	A	rs55763726	by1000genomes	TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr1:16975045G>A	uc010och.2	+	6		c.1505G>A			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCTCCGAACCGCATGCACAAC	0.587000														77			6		0	0	0.000274275	0	0
abParts	0	broad.mit.edu	37	14	107114004	107114004	+	RNA	SNP	A	C	C			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr14:107114004A>C	uc021ser.1	-	96		c.4225T>G								Parts of antibodies, mostly variable regions.																		GGCTGGACCAAGCCTTCCCCA	0.577000														138			6		0	0	0.000673444	0	0
NOMO2	283820	broad.mit.edu	37	16	18549973	18549973	+	Silent	SNP	G	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:18549973G>A	uc002dfe.3	-	10	1167	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	NOMO2_uc002dff.3_Silent_p.F365F|NOMO2_uc010bvx.3_Silent_p.F198F	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	Homo sapiens NODAL modulator 2 (NOMO2), transcript variant 1, mRNA.	365						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	p.S364*(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TCTCAAGGCGGAATGAGCCAT	0.403000														30			41		0	0	0.000781405	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481888	142481888	+	Silent	SNP	T	C	C	rs138077672	by1000genomes	TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr7:142481888T>C	uc011ksq.2	+	3	650	c.567T>C	c.(565-567)ctT>ctC	p.L189L	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		TGGGCTTCCTTGAGGGAGGCA	0.522000														129			4		0	0	0.000442599	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415641	19415641	+	RNA	SNP	A	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr13:19415641A>T	uc010tcj.1	-	0		c.30469T>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		aaaaaaaaaaaaacccaaaca	0.418000														28			5		0	0	0.000602214	0	0
X97876	0	broad.mit.edu	37	9	66499793	66499793	+	Silent	SNP	G	A	A	rs138477209	by1000genomes	TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr9:66499793G>A	uc004aee.1	+	0	603	c.603G>A	c.(601-603)tcG>tcA	p.S201S	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TGTGCAAGTCGCGCAAGGAGC	0.587000														53			5		0	0	0.00185496	0	0
POU1F1	5449	broad.mit.edu	37	3	87309092	87309092	+	Silent	SNP	C	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr3:87309092C>T	uc010hoj.1	-	5	1031	c.906G>A	c.(904-906)ctG>ctA	p.L302L	POU1F1_uc003dqq.1_Silent_p.L276L	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.	276					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		AACTCTGATTCAGACTTGTTT	0.373000														54			11		0	0	0.00136819	0	0
DPEP2	64174	broad.mit.edu	37	16	68024759	68024759	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:68024759C>A	uc010cey.3	-	5	1038	c.874G>T	c.(874-876)Gct>Tct	p.A292S	DPEP2_uc002eve.3_Missense_Mutation_p.A292S|DPEP2_uc002evf.3_Non-coding_Transcript	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	292					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		ACATTCCGAGCACTGTTGCAC	0.587000														186			36		3.33393e-15	5.011e-14	0.000953801	1	0
CTU2	348180	broad.mit.edu	37	16	88781275	88781275	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:88781275C>T	uc010chz.3	+	12	1621	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S	CTU2_uc002flm.3_Missense_Mutation_p.P454S|CTU2_uc002fln.3_Missense_Mutation_p.P454S|CTU2_uc010cia.3_Missense_Mutation_p.P367S	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	Homo sapiens cytosolic thiouridylase subunit 2 homolog (S. pombe) (CTU2), transcript variant 1, mRNA.	454					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						CAGGGAGGACCCCCAAGCCTG	0.652000														32			6		0	0	8.12818e-05	0	0
ANKRD44	91526	broad.mit.edu	37	2	197986223	197986223	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr2:197986223A>G	uc021vuj.1	-	7	932	c.739T>C	c.(739-741)Tgc>Cgc	p.C247R	ANKRD44_uc002utz.4_5'UTR|ANKRD44_uc021vuk.1_Missense_Mutation_p.C222R|ANKRD44_uc002uub.3_Missense_Mutation_p.C247R|ANKRD44_uc010zgw.2_Missense_Mutation_p.C175R|ANKRD44_uc002uuc.3_Missense_Mutation_p.C247R	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	247							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCATTGTAGCAGGCGATGTGA	0.438000														16			16		0	0	0.00074312	0	0
X97876	0	broad.mit.edu	37	9	66499739	66499739	+	Silent	SNP	G	A	A	rs150502168	by1000genomes	TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr9:66499739G>A	uc004aee.1	+	0	549	c.549G>A	c.(547-549)ccG>ccA	p.P183P	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GCCTGGGACCGTCCATTTTCG	0.602000														73			9		0	0	0.000219431	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67861433	67861433	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:67861433G>T	uc010vka.2	+	14	1925	c.1849G>T	c.(1849-1851)Gag>Tag	p.E617*	TSNAXIP1_uc010vjz.1_Nonsense_Mutation_p.E440*|TSNAXIP1_uc002euf.4_Nonsense_Mutation_p.E296*|TSNAXIP1_uc010vkb.2_Nonsense_Mutation_p.E548*|TSNAXIP1_uc002eug.4_Nonsense_Mutation_p.E271*|TSNAXIP1_uc002euh.4_Nonsense_Mutation_p.E271*|TSNAXIP1_uc002eui.4_Nonsense_Mutation_p.E271*|TSNAXIP1_uc002euj.3_Nonsense_Mutation_p.E563*|TSNAXIP1_uc002euk.3_Nonsense_Mutation_p.E296*	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA.	563					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		ATACATGGATGAGAAGGACGA	0.567000														130			22		3.7963e-18	5.79374e-17	0.00047179	1	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860594	67860594	+	Splice_Site	SNP	G	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:67860594G>A	uc010vka.2	+	12	1478	c.1402_splice	c.e12-1	p.K468_splice	TSNAXIP1_uc010vjz.1_Splice_Site_p.K291_splice|TSNAXIP1_uc002euf.4_Splice_Site_p.K147_splice|TSNAXIP1_uc010vkb.2_Splice_Site_p.K399_splice|TSNAXIP1_uc002eug.4_Splice_Site_p.K122_splice|TSNAXIP1_uc002euh.4_Splice_Site_p.K122_splice|TSNAXIP1_uc002eui.4_Splice_Site_p.K122_splice|TSNAXIP1_uc002euj.3_Splice_Site_p.K414_splice|TSNAXIP1_uc002euk.3_Splice_Site_p.K147_splice	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA.	414					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CGATCCCGCAGAAAGAGACGT	0.498000														90			12		0	0	0.00185496	0	0
RBKS	64080	broad.mit.edu	37	2	28050600	28050600	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr2:28050600G>A	uc002rlo.1	-	6	640	c.629C>T	c.(628-630)aCg>aTg	p.T210M	RBKS_uc010ezi.1_Missense_Mutation_p.T143M|RBKS_uc010ymg.2_Missense_Mutation_p.T210M	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	Homo sapiens ribokinase (RBKS), mRNA.	210					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					GCTGCCCACCGTGAGGCCAGT	0.478000														6			9		0	0	0.000274275	0	0
NID1	4811	broad.mit.edu	37	1	236143148	236143148	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr1:236143148C>A	uc001hxo.3	-	17	3585	c.3483G>T	c.(3481-3483)aaG>aaT	p.K1161N	NID1_uc009xgd.3_Missense_Mutation_p.K1028N|NID1_uc009xgc.3_Missense_Mutation_p.K242N	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	1161					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AATACAGATTCTTCCCGTAGC	0.602000														42			14		1.05317e-09	1.53639e-08	0.000219431	1	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860932	67860932	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:67860932G>A	uc010vka.2	+	12	1697	c.1621G>A	c.(1621-1623)Gct>Act	p.A541T	TSNAXIP1_uc010vjz.1_Missense_Mutation_p.A364T|TSNAXIP1_uc002euf.4_Missense_Mutation_p.A220T|TSNAXIP1_uc010vkb.2_Missense_Mutation_p.A472T|TSNAXIP1_uc002eug.4_Missense_Mutation_p.A195T|TSNAXIP1_uc002euh.4_Missense_Mutation_p.A195T|TSNAXIP1_uc002eui.4_Missense_Mutation_p.A195T|TSNAXIP1_uc002euj.3_Missense_Mutation_p.A487T|TSNAXIP1_uc002euk.3_Missense_Mutation_p.A220T	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA.	487					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GATGACAAATGCTGACAGTCA	0.507000														75			10		0	0	0.000442599	0	0
COX11	1353	broad.mit.edu	37	17	53045939	53045939	+	Silent	SNP	C	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr17:53045939C>A	uc010wng.1	-	0	126	c.69G>T	c.(67-69)ggG>ggT	p.G23G	STXBP4_uc010dcc.1_5'Flank|STXBP4_uc002iuf.1_5'Flank|STXBP4_uc010dcd.1_5'Flank|COX11_uc010wne.1_Non-coding_Transcript|COX11_uc010wnf.1_Non-coding_Transcript|COX11_uc002iue.2_Non-coding_Transcript|COX11_uc010wnh.1_Silent_p.G23G	NM_004375	NP_004366	Q9Y6N1	COX11_HUMAN	Homo sapiens COX11 cytochrome c oxidase assembly homolog (yeast) (COX11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	23					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						TGGTTGGAGACCCAGGGTGGA	0.612000														70			20		3.10358e-05	0.000416048	0.000295444	1	0
KIT	3815	broad.mit.edu	37	4	55599340	55599340	+	Missense_Mutation	SNP	T	G	G	rs121913514		TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr4:55599340T>G	uc010igr.3	+	16	2553	c.2466T>G	c.(2464-2466)aaT>aaG	p.N822K	KIT_uc010igs.3_Missense_Mutation_p.N818K	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	822	Protein kinase.		N -> K (in a germ cell tumor of the testis; somatic mutation).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.N822K(151)|p.N822Y(13)|p.N822H(4)|p.S821F(2)|p.N822N(2)|p.N822I(2)|p.S821_N822>GY(1)|p.N822T(1)|p.N822S(1)|p.N822D(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGATTCTAATTATGTGGTTA	0.383000	N822K(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					53			92		0	0	0.000781405	0	0
IL6ST	3572	broad.mit.edu	37	5	55248114	55248114	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr5:55248114T>G	uc003jqq.3	-	11	1829	c.1516A>C	c.(1516-1518)Agc>Cgc	p.S506R	IL6ST_uc003jqp.3_Intron|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_Missense_Mutation_p.S217R|IL6ST_uc003jqr.3_3'UTR|IL6ST_uc010iwb.3_Missense_Mutation_p.S445R|IL6ST_uc010iwe.1_5'Flank	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	506	Fibronectin type-III 4.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GATTCAGGGCTTCCTGGTCCA	0.363000			O		hepatocellular ca									47			46		0	0	0.000781405	0	0
ZNF208	7757	broad.mit.edu	37	19	22156977	22156977	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr19:22156977A>T	uc021urr.1	-	3	1008	c.859T>A	c.(859-861)Tgt>Agt	p.C287S	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CATTCTTCACATTTGTTGGGT	0.383000														29			14		0	0	0.000219431	0	0
NBPF10	100132406	broad.mit.edu	37	1	144823897	144823897	+	Silent	SNP	T	C	C			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr1:144823897T>C	uc009wig.1	+	15	2126	c.1932T>C	c.(1930-1932)tgT>tgC	p.C644C	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Silent_p.C447C|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Silent_p.C306C	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	646										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTTCAGGTTGTCTTGAACTGA	0.488000														75			4		0	0	0.000157383	0	0
PIK3R5	23533	broad.mit.edu	37	17	8785145	8785145	+	Silent	SNP	G	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr17:8785145G>A	uc002glt.3	-	15	2326	c.2259C>T	c.(2257-2259)tcC>tcT	p.S753S	PIK3R5_uc010vuz.2_Silent_p.S753S|PIK3R5_uc021tqc.1_Silent_p.S367S|PIK3R5_uc010cob.2_Silent_p.S367S|PIK3R5_uc010coa.2_Silent_p.S367S|PIK3R5_uc002glu.4_Silent_p.S367S	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	753	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TGAGGTTCACGGAGGTACAGA	0.622000														15			4		0	0	0.000602214	0	0
TPTE2	93492	broad.mit.edu	37	13	20056686	20056686	+	Splice_Site	SNP	T	C	C			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr13:20056686T>C	uc001umd.3	-	5	331	c.120_splice	c.e5-1	p.S40_splice	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Splice_Site_p.S40_splice|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Splice_Site	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	40						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313000														55			4		0	0	0.00024832	0	0
YBX1	4904	broad.mit.edu	37	1	43166649	43166649	+	Missense_Mutation	SNP	C	T	T	rs141968223		TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr1:43166649C>T	uc001chs.3	+	6	1109	c.938C>T	c.(937-939)tCg>tTg	p.S313L		NM_004559	NP_004550	P67809	YBOX1_HUMAN	Homo sapiens Y box binding protein 1 (YBX1), mRNA.	313					CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|U12-type spliceosomal complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule	RNA binding|double-stranded DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.S313L(2)		large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCTGAGAATTCGTCCGCTCCC	0.552000														52			19		0	0	0.00152264	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000														7			4		0	0	0.00024832	0	0
DPEP2	64174	broad.mit.edu	37	16	68024897	68024897	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:68024897C>G	uc010cey.3	-	5	900	c.736G>C	c.(736-738)Gtg>Ctg	p.V246L	DPEP2_uc002eve.3_Missense_Mutation_p.V246L|DPEP2_uc002evf.3_Intron	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	246					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TCTGCCACCACCTTCTGCAGG	0.522000														88			6		0	0	8.12818e-05	0	0
DPEP2	64174	broad.mit.edu	37	16	68024883	68024883	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:68024883C>T	uc010cey.3	-	5	914	c.750G>A	c.(748-750)atG>atA	p.M250I	DPEP2_uc002eve.3_Missense_Mutation_p.M250I|DPEP2_uc002evf.3_Intron	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	250					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CCAGGCGGTTCATTTCTGCCA	0.532000														96			7		0	0	0.000157383	0	0
TIAM1	7074	broad.mit.edu	37	21	32496904	32496904	+	Silent	SNP	A	G	G			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr21:32496904A>G	uc002yow.1	-	27	4714	c.4242T>C	c.(4240-4242)taT>taC	p.Y1414Y	TIAM1_uc011adk.1_Silent_p.Y1414Y|TIAM1_uc011adl.1_Silent_p.Y1354Y	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1414					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CAAAAGGGACATATTGCTGGG	0.532000														28			37		0	0	0.00111076	0	0
CMA1	1215	broad.mit.edu	37	14	24976701	24976701	+	Missense_Mutation	SNP	C	T	T	rs140753864		TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr14:24976701C>T	uc001wpp.1	-	1	100	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	CMA1_uc010alx.1_Intron	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	24	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.G24W(2)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TCTGTGCCCCCGATGATCTCC	0.498000														46			28		0	0	0.001512	0	0
ZNF16	7564	broad.mit.edu	37	8	146156591	146156591	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr8:146156591G>A	uc003zet.3	-	3	1769	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	ZNF16_uc003zeu.3_Missense_Mutation_p.R528C	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTGGAGCTGCGACCAAAGGTC	0.567000														40			20		0	0	0.000720815	0	0
YTHDC1	91746	broad.mit.edu	37	4	69188621	69188621	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr4:69188621C>G	uc003hdx.3	-	10	1800	c.1447G>C	c.(1447-1449)Gaa>Caa	p.E483Q	YTHDC1_uc003hdy.3_Missense_Mutation_p.E465Q	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	483	YTH.							p.E483*(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						GTTCCACATTCAAGTTCAATT	0.373000														54			12		0	0	0.000308642	0	0
BMS1	9790	broad.mit.edu	37	10	43317546	43317546	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr10:43317546G>A	uc001jaj.3	+	18	3404	c.3046G>A	c.(3046-3048)Gat>Aat	p.D1016N		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	1016					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGTTGTCCTTGATCTGGATAA	0.308000														57			25		0	0	0.00106085	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102457883	102457883	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr14:102457883G>C	uc001yks.2	+	10	3052	c.2888G>C	c.(2887-2889)aGa>aCa	p.R963T		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	963	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CATGAGCTAAGAATAACCAAT	0.343000														29			20		0	0	0.000878237	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902820	4902820	+	Silent	SNP	C	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr19:4902820C>T	uc002mbm.3	-	0	60	c.60G>A	c.(58-60)tcG>tcA	p.S20S		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	20					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CTAATTCGATCGACTTCACCA	0.547000														67			35		0	0	0.00058488	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32199124	32199124	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr20:32199124C>T	uc002wzg.1	+	3	967	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Missense_Mutation_p.L135F|CBFA2T2_uc021wbz.1_Missense_Mutation_p.L115F|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.L115F|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	144	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GGTGCGGACTCTTGTTCTTGC	0.488000														76			19		0	0	0.00121646	0	0
BBS7	55212	broad.mit.edu	37	4	122766735	122766735	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr4:122766735A>C	uc003ied.3	-	10	1338	c.1154T>G	c.(1153-1155)tTt>tGt	p.F385C	BBS7_uc003iee.2_Missense_Mutation_p.F385C	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	385					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATTTAGTGTAAATTTATCATT	0.328000									Bardet-Biedl syndrome					69			11		0	0	0.000978159	0	0
FAM5C	339479	broad.mit.edu	37	1	190067796	190067796	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr1:190067796C>A	uc001gse.1	-	7	1885	c.1653G>T	c.(1651-1653)ttG>ttT	p.L551F	FAM5C_uc010pot.1_Missense_Mutation_p.L449F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	551						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAGAGAGACCCAAAATCATAT	0.478000														66			19		5.3912e-06	7.42788e-05	0.00074312	1	0
DDIT3	1649	broad.mit.edu	37	12	57911175	57911175	+	Silent	SNP	T	G	G			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr12:57911175T>G	uc009zpt.3	-	2	352	c.84A>C	c.(82-84)tcA>tcC	p.S28S	MARS_uc001sof.1_Non-coding_Transcript|DDIT3_uc001soi.3_Silent_p.S5S|DDIT3_uc021qzj.1_Silent_p.S5S|DDIT3_uc021qzk.1_Silent_p.S28S|DDIT3_uc021qzl.1_Silent_p.S28S|DDIT3_uc009zps.3_Silent_p.S28S	NM_001195053	NP_001181982	P35638	DDIT3_HUMAN	Homo sapiens DNA-damage-inducible transcript 3 (DDIT3), transcript variant 1, mRNA.	5					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						AGAAAGGCAATGACTCAGCTG	0.517000			T	FUS	liposarcoma									37			8		0	0	0.000274275	0	0
CCDC56	28958	broad.mit.edu	37	17	40947833	40947833	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr17:40947833T>G	uc010wgz.1	-	2	702	c.425A>C	c.(424-426)cAg>cCg	p.Q142P	WNK4_uc002ibj.3_Silent_p.A1071A|WNK4_uc010wgx.2_Silent_p.A735A			Q9Y2R0	CCD56_HUMAN	Homo sapiens coiled-coil domain containing 56 (CCDC56), mRNA.	0						integral to membrane				liver(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0741)		AAGCTCTGGCTGAGAGCGACC	0.607000														25			16		0	0	0.00074312	0	0
abParts	0	broad.mit.edu	37	14	107062359	107062359	+	RNA	SNP	G	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr14:107062359G>T	uc021ser.1	-	150		c.6627C>A								Parts of antibodies, mostly variable regions.																		AGACAGCGCAGATGAGGGACA	0.607000														21			4		5.9392e-07	8.53868e-06	0.00116845	1	0
ACER1	125981	broad.mit.edu	37	19	6307274	6307274	+	Silent	SNP	C	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr19:6307274C>T	uc002mel.2	-	4	594	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	172						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						AGACCTCAATCAGGTGCCGAA	0.562000														30			19		0	0	0.00121646	0	0
DPEP2	64174	broad.mit.edu	37	16	68024861	68024861	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:68024861C>T	uc010cey.3	-	5	936	c.772G>A	c.(772-774)Gac>Aac	p.D258N	DPEP2_uc002eve.3_Missense_Mutation_p.D258N|DPEP2_uc002evf.3_Intron	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	258					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGGGATAAGTCTACCATCATG	0.547000														112			10		0	0	0.00136819	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433261	104433261	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr9:104433261C>A	uc004bbp.2	-	2	2034	c.1433G>T	c.(1432-1434)tGg>tTg	p.W478L	GRIN3A_uc004bbq.1_Missense_Mutation_p.W478L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	478					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CAAGCGGGTCCACATTGGCTT	0.498000														118			62		1.17621e-14	1.7415e-13	0.000781405	1	0
LRRN1	57633	broad.mit.edu	37	3	3887651	3887651	+	Silent	SNP	G	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr3:3887651G>A	uc003bpt.4	+	1	2087	c.1326G>A	c.(1324-1326)acG>acA	p.T442T	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.T442T	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	442	Ig-like C2-type.					integral to membrane		p.T442A(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCGGCACGACGGTTTTCCTAG	0.448000														31			67		0	0	0.000781405	0	0
LRRC4	64101	broad.mit.edu	37	7	127669618	127669618	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr7:127669618G>A	uc003vmk.3	-	1	1213	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Missense_Mutation_p.P359L	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	359	Ig-like.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GAGGTCTCGAGGTGCGTCCAT	0.597000														52			11		0	0	0.00185496	0	0
BC107108	0	broad.mit.edu	37	15	20362825	20362825	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr15:20362825G>T	uc001yte.1	+	0	138	c.87G>T	c.(85-87)ttG>ttT	p.L29F						RecName: Full=Putative BMS1-like protein ENSP00000383088;																		TGGGTGGCTTGGGCAACAGCG	0.498000														61			9		9.31168e-06	0.000126537	0.00185496	1	0
WWP2	11060	broad.mit.edu	37	16	69874163	69874163	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:69874163G>A	uc002exu.1	+	5	564	c.475G>A	c.(475-477)Gat>Aat	p.D159N	WWP2_uc002ext.3_Missense_Mutation_p.D159N|WWP2_uc002exv.1_Missense_Mutation_p.D159N|WWP2_uc010vlm.1_Missense_Mutation_p.D43N	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	159					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCCCTGACAGATGGTGAGTG	0.597000														78			10		0	0	0.000673444	0	0
BRPF1	7862	broad.mit.edu	37	3	9780769	9780769	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr3:9780769A>T	uc003bse.3	+	2	1085	c.686A>T	c.(685-687)aAt>aTt	p.N229I	BRPF1_uc003bsf.3_Missense_Mutation_p.N229I|BRPF1_uc003bsg.3_Missense_Mutation_p.N229I|BRPF1_uc011ati.2_Missense_Mutation_p.N229I	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	229					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GATATCATGAATGAGCGTCGG	0.493000														52			14		0	0	0.00185496	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214937	140214937	+	Silent	SNP	C	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr5:140214937C>T	uc003lhq.2	+	0	969	c.969C>T	c.(967-969)gtC>gtT	p.V323V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.V323V	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	338	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAGGCTGTCGATAAAGGCT	0.473000														44			12		0	0	0.000219431	0	0
PRDM9	56979	broad.mit.edu	37	5	23522742	23522742	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr5:23522742C>A	uc003jgo.3	+	7	812	c.630C>A	c.(628-630)aaC>aaA	p.N210K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	210					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGTGTCAGAACTTCTTCATTG	0.498000										HNSCC(3;0.000094)				44			8		5.18039e-06	7.23796e-05	0.000157383	1	0
DQX1	165545	broad.mit.edu	37	2	74749835	74749836	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr2:74749835_74749836CC>AA	uc010yrw.2	-	7	1531_1532	c.1366_1367GG>TT	c.(1366-1368)ggg>TTg	p.G456L	DQX1_uc002smc.3_Missense_Mutation_p.G17L	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	456						nucleus	ATP binding|helicase activity|nucleic acid binding	p.G338V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TGACAGGTCCCCATCATCATCC	0.530000														162			6		0	0	6.4e-05	0	0
ESF1	51575	broad.mit.edu	37	20	13695704	13695704	+	Silent	SNP	C	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr20:13695704C>T	uc002woj.3	-	13	2481	c.2373G>A	c.(2371-2373)gaG>gaA	p.E791E		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	791	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GGGCCTTCTCCTCAAGGATTT	0.413000														133			28		0	0	0.00127121	0	0
ANXA6	309	broad.mit.edu	37	5	150488079	150488079	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr5:150488079C>T	uc003ltl.2	-	22	1945	c.1717G>A	c.(1717-1719)Gac>Aac	p.D573N	ANXA6_uc011dcp.2_Missense_Mutation_p.D541N|ANXA6_uc003lto.2_Missense_Mutation_p.D160N	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	573						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTCCACGTCATAGTTGGTC	0.572000														112			41		0	0	0.000437636	0	0
SLC12A4	6560	broad.mit.edu	37	16	67984340	67984340	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:67984340G>T	uc010vkj.1	-	10	1557	c.1517C>A	c.(1516-1518)cCc>cAc	p.P506H	SLC12A4_uc010ceu.2_Missense_Mutation_p.P498H|SLC12A4_uc010vkh.1_Missense_Mutation_p.P473H|SLC12A4_uc002euz.2_Missense_Mutation_p.P504H|SLC12A4_uc010vki.1_Missense_Mutation_p.P504H|SLC12A4_uc002eva.2_Missense_Mutation_p.P504H|SLC12A4_uc002evb.2_Non-coding_Transcript	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	504					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GATGACCCAGGGTGAAGGCCA	0.617000														46			5		2.0095e-06	2.84775e-05	8.12818e-05	1	0
TIMM21	29090	broad.mit.edu	37	18	71816215	71816215	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr18:71816215C>T	uc010dqr.1	+	0	470	c.172C>T	c.(172-174)Ctt>Ttt	p.L58F	FBXO15_uc002lle.2_5'Flank|FBXO15_uc002llf.2_5'Flank	NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 21 homolog (yeast) (TIMM21), nuclear gene encoding mitochondrial protein, mRNA.	58					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											TAGATGTATTCTTGGAGTCAC	0.498000														103			47		0	0	0.000781405	0	0
ZNF408	79797	broad.mit.edu	37	11	46726143	46726143	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr11:46726143G>C	uc001nde.2	+	4	1174	c.893G>C	c.(892-894)gGc>gCc	p.G298A	ZNF408_uc010rgw.2_Missense_Mutation_p.G290A	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTGCCAGGGGCACCCAGCCG	0.617000														24			16		0	0	0.00074312	0	0
RPL22	6146	broad.mit.edu	37	1	6257784	6257785	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr1:6257784_6257785insT	uc001amd.3	-	1	90_91	c.44_45insA	c.(43-45)aagfs	p.K15fs	RPL22_uc001ame.3_Frame_Shift_Ins_p.K15fs	NM_000983	NP_000974	P35268	RL22_HUMAN	Homo sapiens ribosomal protein L22 (RPL22), mRNA.	15					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|heparin binding|structural constituent of ribosome	p.K15fs*5(2)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GAACTTGCTTCTTTTTTTTGCC	0.401			T	RUNX1	"""AML, CML"""								---	47	---	---	8	---					
VENTXP7	391518	broad.mit.edu	37	3	21447901	21447902	+	RNA	INS	-	CC	CC	rs143568999	by1000genomes	TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr3:21447901_21447902insCC	uc003ccd.3	+	0		c.684_685insCC								Homo sapiens VENT homeobox pseudogene 7 (VENTXP7), non-coding RNA.																		CTGGCATACCACCCCCCACGCC	0.663													---	2	---	---	6	---					
HNRNPA2B1	3181	broad.mit.edu	37	7	26236930	26236934	+	Splice_Site	DEL	CTTAC	-	-	rs111244034		TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr7:26236930_26236934delCTTAC	uc003sxr.4	-	4	516	c.300_splice	c.e4+1	p.E100_splice	HNRNPA2B1_uc003sxs.4_Splice_Site_p.E88_splice	NM_031243	NP_112533	P22626	ROA2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1), transcript variant B1, mRNA.	100	RRM 1.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	RNA binding|nucleotide binding|protein binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TCATTGTTTGCTTACCTCTCTTGCT	0.400			T	ETV1	prostate								---	222	---	---	73	---					
IFITM5	387733	broad.mit.edu	37	11	299396	299396	+	Frame_Shift_Del	DEL	G	-	-	rs142041432		TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr11:299396delG	uc001low.1	-	0	131	c.95delC	c.(94-96)ccgfs	p.P32fs		NM_001025295	NP_001020466	A6NNB3	IFM5_HUMAN	Homo sapiens interferon induced transmembrane protein 5 (IFITM5), mRNA.	32					multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTCTCGAGGCGGGGGGTGCGG	0.677													---	4	---	---	2	---					
OR5D14	219436	broad.mit.edu	37	11	55563137	55563140	+	Frame_Shift_Del	DEL	ATGT	-	-			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr11:55563137_55563140delATGT	uc010rim.2	+	0	106_109	c.106_109delATGT	c.(106-111)atgtatfs	p.M36fs		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTTTCTGCTCATGTATGTTATCAC	0.402													---	17	---	---	33	---					
AX747192	0	broad.mit.edu	37	11	63997567	63997568	+	Frame_Shift_Del	DEL	AA	-	-	rs11364788		TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr11:63997567_63997568delAA	uc001nyr.1	-	0	1193_1194	c.761_762delTT	c.(760-762)tttfs	p.F254fs	DNAJC4_uc001nys.3_5'Flank|DNAJC4_uc001nyt.3_5'Flank|DNAJC4_uc001nyu.3_5'Flank					Homo sapiens cDNA FLJ34477 fis, clone HLUNG2003833.																		GTGACTTGGGAAAAAAAAAAAA	0.500													---	6	---	---	3	---					
ARCN1	372	broad.mit.edu	37	11	118455224	118455224	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr11:118455224delT	uc009zag.3	+	5	1008	c.806delT	c.(805-807)cttfs	p.L269fs	ARCN1_uc001ptq.3_Frame_Shift_Del_p.L228fs|ARCN1_uc010ryg.2_Frame_Shift_Del_p.L140fs	NM_001142281	NP_001135753	P48444	COPD_HUMAN	Homo sapiens archain 1 (ARCN1), transcript variant 2, mRNA.	228	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|clathrin adaptor complex|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GCTTTAAAACTTGGAGCCAAA	0.388													---	31	---	---	10	---					
ZNF598	90850	broad.mit.edu	37	16	2049882	2049883	+	In_Frame_Ins	INS	-	TCC	TCC	rs61746014	by1000genomes	TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:2049882_2049883insTCC	uc002cof.1	-	10	1682_1683	c.1667_1668insGGA	c.(1666-1668)gac>gaGGAc	p.555_556insE	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	555						intracellular	zinc ion binding	p.E555_D556insE(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGCCGCCGTCCTCCTCCTC	0.703													---	9	---	---	4	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	-	-			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:69782978_69782980delTCC	uc002exs.3	-	5	583_585	c.567_569delGGA	c.(565-570)gaggaa>gaa	p.189_190EE>E		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													---	172	---	---	7	---					
FOXC2	2303	broad.mit.edu	37	16	86601480	86601480	+	Frame_Shift_Del	DEL	G	-	-			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:86601480delG	uc002fjq.3	+	0	624	c.539delG	c.(538-540)cggfs	p.R180fs		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.	180					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						AAGGAGGAGCGGGCCCACCTC	0.682									Late-onset Hereditary Lymphedema				---	23	---	---	13	---					
SCARF1	8578	broad.mit.edu	37	17	1548956	1548957	+	In_Frame_Ins	INS	-	AGC	AGC	rs142617742	by1000genomes	TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr17:1548956_1548957insAGC	uc002fsz.1	-	0	85_86	c.35_36insGCT	c.(34-36)ctc>ctGCTc	p.12_12L>LL	SCARF1_uc002fsy.1_In_Frame_Ins_p.12_12L>LL|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_In_Frame_Ins_p.12_12L>LL	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	12					cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCGAGTCCAGAGCAGCAGCAG	0.698													---	23	---	---	9	---					
PPM1N	147699	broad.mit.edu	37	19	46002007	46002007	+	Frame_Shift_Del	DEL	C	-	-	rs140525169	by1000genomes	TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr19:46002007delC	uc002pce.3	+	0	277	c.277delC	c.(277-279)cccfs	p.P93fs	RTN2_uc002pcb.3_5'Flank|RTN2_uc002pcc.3_5'Flank|RTN2_uc002pcd.3_5'Flank|PPM1N_uc002pcf.3_5'Flank	NM_001080401	NP_001073870	Q8N819	PPM1N_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) (PPM1N), mRNA.	93	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						ACCTGGTCTGCCCCCGGGCTG	0.697													---	4	---	---	2	---