#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCC4	10257	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	95838971	95838971	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr13:95838971G>A	ENST00000376887.4	-	11	1643	c.1529C>T	c.(1528-1530)gCt>gTt	p.A510V	ABCC4_ENST00000431522.1_Missense_Mutation_p.A510V|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.A510V|ABCC4_ENST00000536256.1_Missense_Mutation_p.A435V	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	510	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A510V(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CAGAGCACAAGCCTTTATGAC	0.373																																																	2	Substitution - Missense(2)	kidney(2)											138.0	128.0	131.0					13																	95838971		2203	4300	6503	SO:0001583	missense	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1529C>T	13.37:g.95838971G>A	ENSP00000366084:p.Ala510Val	Somatic		WXS	Illumina HiSeq	Phase_I	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187834	0.38609	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	5.81	4.96	0.65561	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.116173	0.64402	D	0.000006	D	0.88058	0.6335	L	0.31371	0.925	0.50632	D	0.999887	B;B;B;B;B	0.23854	0.078;0.01;0.092;0.01;0.019	B;B;B;B;B	0.32624	0.074;0.044;0.149;0.044;0.075	T	0.81172	-0.1054	10	0.15952	T	0.53	.	9.8792	0.41222	0.2001:0.0:0.7999:0.0	.	435;510;510;510;510	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	V	510;510;435;510	ENSP00000388657:A510V;ENSP00000366084:A510V;ENSP00000442024:A435V;ENSP00000398562:A510V	ENSP00000366084:A510V	A	-	2	0	ABCC4	94636972	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.122000	0.57910	2.763000	0.94921	0.650000	0.86243	GCT		0.373	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2		NM_005845	
ABCC9	10060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	22069954	22069954	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr12:22069954T>C	ENST00000261201.4	-	4	489	c.490A>G	c.(490-492)Aac>Gac	p.N164D	ABCC9_ENST00000261200.4_Missense_Mutation_p.N164D|ABCC9_ENST00000345162.2_Missense_Mutation_p.N164D	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	164					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.N164D(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAACGCAGGTTTGATATGTCC	0.423																																																	2	Substitution - Missense(2)	kidney(2)											201.0	192.0	195.0					12																	22069954		2203	4300	6503	SO:0001583	missense	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.490A>G	12.37:g.22069954T>C	ENSP00000261201:p.Asn164Asp	Somatic		WXS	Illumina HiSeq	Phase_I	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	T	4.052	0.007341	0.07866	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.91894	-2.92;-2.93;-2.91	5.09	1.73	0.24493	.	0.420309	0.27886	N	0.017444	T	0.77824	0.4188	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.61753	-0.6998	10	0.11794	T	0.64	-1.7444	5.6339	0.17526	0.0:0.4394:0.2509:0.3097	.	164;164	O60706;O60706-2	ABCC9_HUMAN;.	D	164	ENSP00000261200:N164D;ENSP00000261201:N164D;ENSP00000261202:N164D	ENSP00000261200:N164D	N	-	1	0	ABCC9	21961221	0.044000	0.20184	0.882000	0.34594	0.560000	0.35617	0.255000	0.18333	0.056000	0.16144	-0.182000	0.12963	AAC		0.423	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1		NM_005691	
AMBN	258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	71469169	71469169	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr4:71469169A>C	ENST00000322937.6	+	11	848	c.745A>C	c.(745-747)Aat>Cat	p.N249H	AMBN_ENST00000449493.2_Missense_Mutation_p.N234H	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	249					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)	p.N249H(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TTTTGGAGCAAATCAATTGGT	0.274																																																	1	Substitution - Missense(1)	kidney(1)											72.0	71.0	71.0					4																	71469169		2201	4298	6499	SO:0001583	missense	258			AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.745A>C	4.37:g.71469169A>C	ENSP00000313809:p.Asn249His	Somatic		WXS	Illumina HiSeq	Phase_I	Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.900661	0.33535	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.40476	1.03;1.03	5.92	5.92	0.95590	.	0.155282	0.47093	D	0.000248	T	0.62122	0.2402	M	0.68952	2.095	0.36819	D	0.886303	D	0.89917	1.0	D	0.97110	1.0	T	0.70550	-0.4841	10	0.72032	D	0.01	-14.5073	12.7511	0.57308	1.0:0.0:0.0:0.0	.	249	Q9NP70	AMBN_HUMAN	H	249;248;234	ENSP00000313809:N249H;ENSP00000391234:N234H	ENSP00000313809:N249H	N	+	1	0	AMBN	71503758	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	4.594000	0.61041	2.267000	0.75376	0.383000	0.25322	AAT		0.274	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1		NM_016519	
ANGPTL7	10218	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11254587	11254587	+	Missense_Mutation	SNP	C	C	A	rs561062501	byFrequency	TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr1:11254587C>A	ENST00000376819.3	+	4	981	c.742C>A	c.(742-744)Cgc>Agc	p.R248S	ANGPTL7_ENST00000476934.1_3'UTR|MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	248	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)		p.R248S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		CAACAGCTATCGCCTCTTCCT	0.517																																																	1	Substitution - Missense(1)	kidney(1)											185.0	164.0	171.0					1																	11254587		2203	4300	6503	SO:0001583	missense	10218			Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.742C>A	1.37:g.11254587C>A	ENSP00000366015:p.Arg248Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	ENST00000376819.3	37	CCDS128.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896487	0.91962	.	.	ENSG00000171819	ENST00000376819	T	0.78246	-1.16	5.67	5.67	0.87782	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.048798	0.85682	D	0.000000	D	0.86940	0.6054	M	0.64630	1.985	0.58432	D	0.999991	D	0.71674	0.998	D	0.68192	0.956	D	0.87165	0.2217	10	0.66056	D	0.02	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	248	O43827	ANGL7_HUMAN	S	248	ENSP00000366015:R248S	ENSP00000366015:R248S	R	+	1	0	ANGPTL7	11177174	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.623000	0.54224	2.677000	0.91161	0.655000	0.94253	CGC		0.517	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1		NM_021146	
ANKRD30A	91074	broad.mit.edu;hgsc.bcm.edu	37	10	37418819	37418819	+	Splice_Site	SNP	A	A	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr10:37418819A>G	ENST00000602533.1	+	2	152		c.e2-1		ANKRD30A_ENST00000361713.1_Splice_Site|ANKRD30A_ENST00000374660.1_Splice_Site			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCACTCTCGTAGGACTGCTCT	0.448																																																	1	Unknown(1)	kidney(1)											43.0	40.0	41.0					10																	37418819		1906	4135	6041	SO:0001630	splice_region_variant	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.54-1A>G	10.37:g.37418819A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q5W025	Splice_Site	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	a	9.107	1.005547	0.19199	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	2.0	2.0	0.26442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9309	0.19138	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD30A	37458825	1.000000	0.71417	0.201000	0.23476	0.026000	0.11368	5.708000	0.68377	0.917000	0.36895	0.234000	0.17832	.		0.448	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2		NM_052997	Intron
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																																	13	Substitution - Missense(13)	kidney(6)|endometrium(4)|prostate(3)											37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			
AOC2	314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40997546	40997546	+	Silent	SNP	T	T	C	rs371763221		TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr17:40997546T>C	ENST00000253799.3	+	1	930	c.903T>C	c.(901-903)tcT>tcC	p.S301S	AOC2_ENST00000452774.2_Silent_p.S301S	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	301					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.S301S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CTCGGAACTCTCCAGGTCCTC	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											88.0	90.0	89.0					17																	40997546		2203	4300	6503	SO:0001819	synonymous_variant	314			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.903T>C	17.37:g.40997546T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Silent	SNP	ENST00000253799.3	37	CCDS11443.1																																																																																				0.557	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1		NM_009590, NM_001158	
ASH1L	55870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155313396	155313396	+	Splice_Site	SNP	T	T	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr1:155313396T>C	ENST00000368346.3	-	23	8773	c.8134A>G	c.(8134-8136)Aaa>Gaa	p.K2712E	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Splice_Site_p.K2707E			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2712	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.K2707E(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGCACGTACTTTTCATTCTTC	0.478																																																	1	Substitution - Missense(1)	kidney(1)											118.0	114.0	115.0					1																	155313396		2203	4300	6503	SO:0001630	splice_region_variant	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8135+1A>G	1.37:g.155313396T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	T	26.0	4.697307	0.88830	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.87256	-2.23;-2.23	4.93	4.93	0.64822	Bromo adjacent homology (BAH) domain (3);	0.044747	0.85682	D	0.000000	T	0.78329	0.4266	N	0.02539	-0.55	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.80764	0.994;0.99	D	0.84009	0.0347	10	0.33940	T	0.23	.	14.3956	0.67007	0.0:0.0:0.0:1.0	.	2712;2707	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	E	2712;2707	ENSP00000357330:K2712E;ENSP00000376204:K2707E	ENSP00000357330:K2712E	K	-	1	0	ASH1L	153580020	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.499000	0.81566	2.069000	0.61940	0.459000	0.35465	AAA		0.478	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1		NM_018489	Missense_Mutation
ATP8A2	51761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	26152975	26152975	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr13:26152975T>C	ENST00000381655.2	+	21	1947	c.1805T>C	c.(1804-1806)cTt>cCt	p.L602P	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.L562P	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	562					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L602P(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTTGAGAGACTTTCAAAAGAC	0.383																																																	1	Substitution - Missense(1)	kidney(1)											124.0	115.0	118.0					13																	26152975		1845	4095	5940	SO:0001583	missense	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1805T>C	13.37:g.26152975T>C	ENSP00000371070:p.Leu602Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.307890	0.81247	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.70749	-0.51;-0.51	5.61	5.61	0.85477	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.90807	0.7113	H	0.98951	4.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.995	D	0.94450	0.7666	10	0.87932	D	0	.	16.1054	0.81216	0.0:0.0:0.0:1.0	.	562;382;562	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	P	602;562;382	ENSP00000371070:L602P;ENSP00000255283:L562P	ENSP00000255283:L562P	L	+	2	0	ATP8A2	25050975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.603000	0.82811	2.266000	0.75297	0.533000	0.62120	CTT		0.383	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2		NM_016529	
ATRNL1	26033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	117024695	117024695	+	Silent	SNP	A	A	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr10:117024695A>G	ENST00000355044.3	+	11	1839	c.1713A>G	c.(1711-1713)ccA>ccG	p.P571P		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	571					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.P571P(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAATACTACCAAAACCAAATC	0.294																																																	1	Substitution - coding silent(1)	kidney(1)											100.0	104.0	103.0					10																	117024695		2203	4296	6499	SO:0001819	synonymous_variant	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1713A>G	10.37:g.117024695A>G		Somatic		WXS	Illumina HiSeq	Phase_I	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	CCDS7592.1																																																																																				0.294	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3		XM_049349	
BCL2	596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	60985489	60985489	+	Silent	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr18:60985489G>A	ENST00000398117.1	-	1	1872	c.411C>T	c.(409-411)ctC>ctT	p.L137L	BCL2_ENST00000444484.1_Silent_p.L137L|BCL2_ENST00000589955.1_Silent_p.L137L|BCL2_ENST00000333681.4_Silent_p.L137L	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	137					actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625)	p.L137L(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367)	CGTCCCTGAAGAGCTCCTCCA	0.657			T	IGH@	"""NHL, CLL"""																																			Dom	yes		18	18q21.3	596	B-cell CLL/lymphoma 2		L	2	Substitution - coding silent(2)	kidney(2)											118.0	135.0	129.0					18																	60985489		2203	4300	6503	SO:0001819	synonymous_variant	596			M14745	CCDS11981.1, CCDS45882.1	18q21.3	2014-03-07			ENSG00000171791	ENSG00000171791		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	990	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 50"""	151430					Standard	XM_006722523		Approved	Bcl-2, PPP1R50	uc002lit.1	P10415	OTTHUMG00000132791	ENST00000398117.1:c.411C>T	18.37:g.60985489G>A		Somatic		WXS	Illumina HiSeq	Phase_I	C9JHD5|P10416|Q13842|Q16197	Silent	SNP	ENST00000398117.1	37	CCDS11981.1																																																																																				0.657	BCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256199.1		NM_000633, NM_000657	
TRAPPC13	80006	broad.mit.edu;hgsc.bcm.edu	37	5	64946709	64946709	+	Splice_Site	SNP	G	G	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr5:64946709G>C	ENST00000399438.3	+	6	846	c.501G>C	c.(499-501)caG>caC	p.Q167H	TRAPPC13_ENST00000505553.1_Splice_Site_p.Q167H|TRAPPC13_ENST00000545191.1_Splice_Site_p.Q167H|TRAPPC13_ENST00000438419.2_Splice_Site_p.Q167H|TRAPPC13_ENST00000231526.4_Splice_Site_p.Q167H	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	167								p.Q167H(2)									TCAAATTTCAGGTATTGAATA	0.338																																																	2	Substitution - Missense(2)	kidney(2)											62.0	59.0	60.0					5																	64946709		1801	4067	5868	SO:0001630	splice_region_variant	80006				CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"""Trs65-related"""		"""chromosome 5 open reading frame 44"""	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.501+1G>C	5.37:g.64946709G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Missense_Mutation	SNP	ENST00000399438.3	37	CCDS47222.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.429931	0.83776	.	.	ENSG00000113597	ENST00000399438;ENST00000438419;ENST00000231526;ENST00000505553;ENST00000545191	.	.	.	4.97	4.97	0.65823	.	0.051833	0.85682	D	0.000000	D	0.83977	0.5371	M	0.87682	2.9	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	D;D;D;D	0.71184	0.952;0.965;0.952;0.972	D	0.86852	0.2024	9	0.72032	D	0.01	-24.7457	18.0076	0.89214	0.0:0.0:1.0:0.0	.	167;167;167;167	A5PLN9-4;A5PLN9-2;A5PLN9-5;A5PLN9	.;.;.;CE044_HUMAN	H	167	.	ENSP00000231526:Q167H	Q	+	3	2	C5orf44	64982465	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.722000	0.91452	2.574000	0.86865	0.591000	0.81541	CAG		0.338	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370113.1		NM_024941	Missense_Mutation
CALM2	805	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	47389525	47389525	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr2:47389525C>T	ENST00000272298.7	-	4	342	c.185G>A	c.(184-186)gGc>gAc	p.G62D	CALM2_ENST00000409563.1_Missense_Mutation_p.G109D|CALM2_ENST00000484408.1_5'UTR|RP11-761B3.1_ENST00000422269.1_Intron	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	calmodulin 2 (phosphorylase kinase, delta)	62	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)	p.0?(2)|p.G62D(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	GTCAATTGTGCCATTACCTGA	0.358																																																	3	Whole gene deletion(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(1)											109.0	99.0	102.0					2																	47389525		2203	4300	6503	SO:0001583	missense	805				CCDS1832.1	2p21.3-p21.1	2013-02-25			ENSG00000143933	ENSG00000143933		"""EF-hand domain containing"", ""Endogenous ligands"""	1445	protein-coding gene	gene with protein product	"""prepro-calmodulin 2"""	114182					Standard	NM_001743		Approved	PHKD, CAMII	uc002rvt.2	P62158	OTTHUMG00000128850	ENST00000272298.7:c.185G>A	2.37:g.47389525C>T	ENSP00000272298:p.Gly62Asp	Somatic		WXS	Illumina HiSeq	Phase_I	P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000272298.7	37	CCDS1832.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097327	0.76870	.	.	ENSG00000143933	ENST00000272298;ENST00000456319;ENST00000409563	D;D;D	0.83837	-1.77;-1.77;-1.77	5.73	5.73	0.89815	.	0.054209	0.64402	N	0.000001	D	0.90772	0.7103	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.91308	0.5072	7	0.87932	D	0	.	19.4812	0.95011	0.0:1.0:0.0:0.0	.	.	.	.	D	62;100;109	ENSP00000272298:G62D;ENSP00000411440:G100D;ENSP00000387065:G109D	ENSP00000272298:G62D	G	-	2	0	CALM2	47243029	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.782000	0.85680	2.697000	0.92050	0.591000	0.81541	GGC		0.358	CALM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250789.3		NM_001743	
CDH8	1006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	61851421	61851421	+	Silent	SNP	C	C	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr16:61851421C>A	ENST00000577390.1	-	7	2193	c.1239G>T	c.(1237-1239)gtG>gtT	p.V413V	CDH8_ENST00000584337.1_Silent_p.V413V|CDH8_ENST00000299345.6_Silent_p.V413V|CDH8_ENST00000577730.1_Silent_p.V413V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	413	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.V413V(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CACGAGCAGTCACTTGCCCAA	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											87.0	80.0	83.0					16																	61851421		2203	4300	6503	SO:0001819	synonymous_variant	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1239G>T	16.37:g.61851421C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	CCDS10802.1																																																																																				0.428	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3		NM_001796	
CEBPZ	10153	hgsc.bcm.edu	37	2	37428927	37428929	+	In_Frame_Del	DEL	TTT	TTT	-	rs551280049|rs190431091|rs148813970	byFrequency	TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	TTT	TTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr2:37428927_37428929delTTT	ENST00000234170.5	-	16	3288_3290	c.3143_3145delAAA	c.(3142-3147)aaaact>act	p.K1048del	AC007390.5_ENST00000397226.2_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000406711.1_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	1048					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TGTTTTTTAGTTTTTTGAGTGGT	0.3																																																	0										48,4216		2,44,2086						-0.3	0.1		dbSNP_54	38	454,7798		23,408,3695	no	coding	CEBPZ	NM_005760.2		25,452,5781	A1A1,A1R,RR		5.5017,1.1257,4.0109				502,12014				SO:0001651	inframe_deletion	10153			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.3143_3145delAAA	2.37:g.37428930_37428932delTTT	ENSP00000234170:p.Lys1048del	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NE75	In_Frame_Del	DEL	ENST00000234170.5	37	CCDS1787.1																																																																																				0.300	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2		NM_005760	
CHIA	27159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	111861178	111861178	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr1:111861178C>A	ENST00000369740.1	+	9	896	c.793C>A	c.(793-795)Cct>Act	p.P265T	CHIA_ENST00000483391.1_Missense_Mutation_p.P104T|CHIA_ENST00000430615.1_Missense_Mutation_p.P157T|CHIA_ENST00000343320.6_Missense_Mutation_p.P265T|CHIA_ENST00000353665.6_Missense_Mutation_p.P104T|CHIA_ENST00000451398.2_Missense_Mutation_p.P104T|RP5-1125M8.2_ENST00000426321.1_RNA	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	265					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.P265T(1)|p.P157T(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CGTTGGATTCCCTACCTATGG	0.532																																																	2	Substitution - Missense(2)	kidney(2)											152.0	139.0	143.0					1																	111861178		2203	4300	6503	SO:0001583	missense	27159			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.793C>A	1.37:g.111861178C>A	ENSP00000358755:p.Pro265Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182353	0.57800	.	.	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11	4.84	4.84	0.62591	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.087573	0.45126	U	0.000395	T	0.35158	0.0922	H	0.96175	3.78	0.50632	D	0.999889	D	0.89917	1.0	D	0.83275	0.996	T	0.55127	-0.8189	10	0.87932	D	0	-11.0323	15.8109	0.78565	0.0:1.0:0.0:0.0	.	265	Q9BZP6	CHIA_HUMAN	T	209;104;265;265;104;104;104;157	ENSP00000387671:P209T;ENSP00000436946:P104T;ENSP00000358755:P265T;ENSP00000341828:P265T;ENSP00000390476:P104T;ENSP00000338970:P104T;ENSP00000433309:P104T;ENSP00000391132:P157T	ENSP00000341828:P265T	P	+	1	0	CHIA	111662701	1.000000	0.71417	0.998000	0.56505	0.740000	0.42216	2.009000	0.40903	2.396000	0.81511	0.563000	0.77884	CCT		0.532	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			
DGKZ	8525	broad.mit.edu;hgsc.bcm.edu	37	11	46389268	46389268	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr11:46389268G>A	ENST00000454345.1	+	4	1029	c.904G>A	c.(904-906)Ggg>Agg	p.G302R	DGKZ_ENST00000532868.2_Missense_Mutation_p.G117R|DGKZ_ENST00000527911.1_Missense_Mutation_p.G113R|DGKZ_ENST00000318201.8_Missense_Mutation_p.G113R|DGKZ_ENST00000421244.2_Missense_Mutation_p.G113R|DGKZ_ENST00000456247.2_Missense_Mutation_p.G113R|DGKZ_ENST00000343674.6_Missense_Mutation_p.G130R|DGKZ_ENST00000395574.3_Missense_Mutation_p.G79R|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	302					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)	p.G113R(1)|p.G130R(1)|p.G302R(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CTGCTACGTTGGGGAGCAGTA	0.637											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					3	Substitution - Missense(3)	kidney(3)											125.0	102.0	109.0					11																	46389268		2202	4299	6501	SO:0001583	missense	8525			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.904G>A	11.37:g.46389268G>A	ENSP00000412178:p.Gly302Arg	Somatic	938	WXS	Illumina HiSeq	Phase_I	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	35	5.558321	0.96514	.	.	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345;ENST00000524448	D;T;T;T;D;T;T;T;T	0.84146	-1.81;2.54;2.6;3.53;-1.81;2.41;2.44;1.75;2.92	5.16	5.16	0.70880	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.093732	0.85682	D	0.000000	D	0.92374	0.7580	M	0.75085	2.285	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.988	D;D;D;D;D;D;D;D;D;D	0.97110	0.991;0.991;1.0;0.998;0.996;0.996;0.999;0.996;1.0;0.925	D	0.93016	0.6436	10	0.87932	D	0	.	19.0817	0.93185	0.0:0.0:1.0:0.0	.	113;78;79;113;302;113;113;79;79;130	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZWA5;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.;.	R	130;79;78;113;113;113;113;302;23	ENSP00000343065:G130R;ENSP00000378941:G79R;ENSP00000436273:G78R;ENSP00000436291:G113R;ENSP00000395684:G113R;ENSP00000391021:G113R;ENSP00000320340:G113R;ENSP00000412178:G302R;ENSP00000435763:G23R	ENSP00000320340:G113R	G	+	1	0	DGKZ	46345844	1.000000	0.71417	0.995000	0.50966	0.906000	0.53458	9.713000	0.98740	2.588000	0.87417	0.555000	0.69702	GGG		0.637	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1		NM_001105540	
AMER2	219287	broad.mit.edu;hgsc.bcm.edu	37	13	25745612	25745612	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr13:25745612C>T	ENST00000515384.1	-	1	813	c.146G>A	c.(145-147)tGt>tAt	p.C49Y	AMER2_ENST00000381853.3_Missense_Mutation_p.C49Y|AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000357816.2_Missense_Mutation_p.C49Y			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	49	Gly-rich.				ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.C49Y(2)									TTCGGCGGCACAGTCACAATG	0.657																																																	2	Substitution - Missense(2)	kidney(2)											24.0	27.0	26.0					13																	25745612		2181	4274	6455	SO:0001583	missense	0			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.146G>A	13.37:g.25745612C>T	ENSP00000426528:p.Cys49Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244344	0.39697	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.25085	1.85;1.85;1.82	3.42	3.42	0.39159	.	0.072856	0.53938	D	0.000049	T	0.29749	0.0743	L	0.48642	1.525	0.37833	D	0.928803	P;P	0.52316	0.952;0.924	P;P	0.47941	0.496;0.562	T	0.30851	-0.9964	10	0.48119	T	0.1	-5.3355	14.3394	0.66614	0.0:1.0:0.0:0.0	.	49;49	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	Y	49	ENSP00000350469:C49Y;ENSP00000371277:C49Y;ENSP00000426528:C49Y	ENSP00000350469:C49Y	C	-	2	0	FAM123A	24643612	0.963000	0.33076	0.295000	0.24960	0.492000	0.33523	2.768000	0.47645	1.890000	0.54733	0.462000	0.41574	TGT		0.657	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1		NM_152704	
FAT3	120114	broad.mit.edu;ucsc.edu	37	11	92532099	92532099	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr11:92532099G>A	ENST00000298047.6	+	9	5937	c.5920G>A	c.(5920-5922)Gaa>Aaa	p.E1974K	FAT3_ENST00000525166.1_Missense_Mutation_p.E1824K|FAT3_ENST00000409404.2_Missense_Mutation_p.E1974K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1974	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E1974K(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATGGTTAAAGAAGCCATGGA	0.418										TCGA Ovarian(4;0.039)																																							2	Substitution - Missense(2)	kidney(2)											149.0	145.0	146.0					11																	92532099		1942	4129	6071	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5920G>A	11.37:g.92532099G>A	ENSP00000298047:p.Glu1974Lys	Somatic		WXS	Illumina GAIIx	Phase_I	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	15.09	2.730672	0.48939	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01854	4.6;4.6;4.6	6.02	6.02	0.97574	.	.	.	.	.	T	0.04407	0.0121	L	0.55103	1.725	0.80722	D	1	B	0.29612	0.251	B	0.26517	0.07	T	0.50206	-0.8855	9	0.36615	T	0.2	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	1974	Q8TDW7-3	.	K	1974;1974;1824	ENSP00000298047:E1974K;ENSP00000387040:E1974K;ENSP00000432586:E1824K	ENSP00000298047:E1974K	E	+	1	0	FAT3	92171747	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.930000	0.87610	2.865000	0.98341	0.655000	0.94253	GAA		0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781	
FBXO34	55030	hgsc.bcm.edu	37	14	55817989	55817990	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr14:55817989_55817990insG	ENST00000313833.4	+	2	1126_1127	c.881_882insG	c.(880-885)cagggcfs	p.QG294fs	FBXO34_ENST00000440021.1_Frame_Shift_Ins_p.QG294fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	294										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CTGAAGCGGCAGGGCCAGCGTG	0.535																																																	0																																										SO:0001589	frameshift_variant	55030			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.884dupG	14.37:g.55817992_55817992dupG	ENSP00000313159:p.Gln294fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2VPB5|Q4VBP5|Q86TY4	Frame_Shift_Ins	INS	ENST00000313833.4	37	CCDS32086.1																																																																																				0.535	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			
FHL5	9457	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	97052642	97052642	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr6:97052642A>T	ENST00000326771.2	+	4	556	c.176A>T	c.(175-177)gAc>gTc	p.D59V	FHL5_ENST00000541107.1_Missense_Mutation_p.D59V	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	59	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D59V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGTTACAAAGACCGGCACTGG	0.433																																																	1	Substitution - Missense(1)	kidney(1)											85.0	79.0	81.0					6																	97052642		2203	4300	6503	SO:0001583	missense	9457			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.176A>T	6.37:g.97052642A>T	ENSP00000326022:p.Asp59Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.314430	0.60524	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.89552	-2.53;-2.53;-2.53	5.36	-0.234	0.13074	Zinc finger, LIM-type (5);	0.797544	0.10918	N	0.619819	D	0.93468	0.7916	H	0.95917	3.74	0.58432	D	0.999994	P	0.46912	0.886	P	0.56278	0.795	D	0.92915	0.6350	10	0.87932	D	0	.	11.2208	0.48853	0.3644:0.0:0.6356:0.0	.	59	Q5TD97	FHL5_HUMAN	V	59	ENSP00000442357:D59V;ENSP00000326022:D59V;ENSP00000396390:D59V	ENSP00000326022:D59V	D	+	2	0	FHL5	97159363	1.000000	0.71417	0.880000	0.34516	0.995000	0.86356	2.489000	0.45285	-0.020000	0.14032	-0.250000	0.11733	GAC		0.433	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1		NM_020482	
GANC	2595	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42632072	42632072	+	Silent	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr15:42632072G>A	ENST00000318010.8	+	17	2289	c.2049G>A	c.(2047-2049)ctG>ctA	p.L683L		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	683					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.L683L(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GGTATTCTCTGTTCTACCATG	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											74.0	57.0	63.0					15																	42632072		2203	4299	6502	SO:0001819	synonymous_variant	2595			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2049G>A	15.37:g.42632072G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	ENST00000318010.8	37	CCDS10084.1																																																																																				0.517	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2		NM_198141	
GOSR1	9527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	28849291	28849291	+	Silent	SNP	C	C	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr17:28849291C>T	ENST00000225724.5	+	9	720	c.648C>T	c.(646-648)aaC>aaT	p.N216N	GOSR1_ENST00000581721.1_Silent_p.N202N|GOSR1_ENST00000451249.2_Silent_p.N214N|GOSR1_ENST00000467337.2_Silent_p.N151N	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	216					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.N216N(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						CTGCTGTAAACAGCCTGATCC	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											275.0	301.0	292.0					17																	28849291		2203	4300	6503	SO:0001819	synonymous_variant	9527			AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"""golgi integral membrane protein 2"""	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.648C>T	17.37:g.28849291C>T		Somatic		WXS	Illumina HiSeq	Phase_I	J3KST5|O75392	Silent	SNP	ENST00000225724.5	37	CCDS11258.1																																																																																				0.468	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2			
GPBP1	65056	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	56558502	56558502	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr5:56558502A>G	ENST00000506184.2	+	12	2450	c.1345A>G	c.(1345-1347)Agc>Ggc	p.S449G	GPBP1_ENST00000264779.6_Missense_Mutation_p.S456G|GPBP1_ENST00000454432.2_Missense_Mutation_p.S469G|GPBP1_ENST00000424459.3_Missense_Mutation_p.S469G|GPBP1_ENST00000511209.1_Missense_Mutation_p.S441G|GPBP1_ENST00000538707.1_Missense_Mutation_p.S456G|GPBP1_ENST00000514387.2_Missense_Mutation_p.S278G			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	449					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S449G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GTGGAAGAACAGCACTTTCAA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											163.0	148.0	153.0					5																	56558502		2203	4300	6503	SO:0001583	missense	65056				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.1345A>G	5.37:g.56558502A>G	ENSP00000421202:p.Ser449Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	37	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.724509	0.68959	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	6.07	6.07	0.98685	.	0.127775	0.64402	D	0.000001	T	0.54303	0.1850	L	0.55481	1.735	0.42433	D	0.992685	D;B;B;B	0.67145	0.996;0.229;0.229;0.143	P;B;B;B	0.55999	0.789;0.117;0.117;0.117	T	0.56860	-0.7909	10	0.62326	D	0.03	-7.7469	15.2117	0.73230	1.0:0.0:0.0:0.0	.	469;456;441;449	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	G	469;278;449;469;441;456;456	ENSP00000401596:S469G;ENSP00000421709:S278G;ENSP00000421202:S449G;ENSP00000403522:S469G;ENSP00000422337:S441G;ENSP00000264779:S456G;ENSP00000440090:S456G	ENSP00000264779:S456G	S	+	1	0	GPBP1	56594259	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.549000	0.60726	2.326000	0.78906	0.533000	0.62120	AGC		0.383	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1		NM_022913	
GTF3C5	9328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	135926204	135926204	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr9:135926204A>G	ENST00000372097.5	+	4	930	c.607A>G	c.(607-609)Aat>Gat	p.N203D	GTF3C5_ENST00000372095.5_Missense_Mutation_p.N78D|GTF3C5_ENST00000342018.8_Missense_Mutation_p.N203D|GTF3C5_ENST00000372108.5_Missense_Mutation_p.N203D|GTF3C5_ENST00000372099.6_Missense_Mutation_p.N194D	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	203					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.N203D(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CTCAGGTGAGAATCTGATTGG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											66.0	63.0	64.0					9																	135926204		2203	4300	6503	SO:0001583	missense	9328			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.607A>G	9.37:g.135926204A>G	ENSP00000361169:p.Asn203Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	CCDS6958.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166975	0.57476	.	.	ENSG00000148308	ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000342018;ENST00000439697	T;T;T;T	0.47177	0.86;0.85;0.85;0.86	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	M	0.84082	2.675	0.47819	D	0.999521	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.71656	0.967;0.919;0.974	T	0.67654	-0.5615	10	0.20519	T	0.43	-8.5643	14.1611	0.65448	1.0:0.0:0.0:0.0	.	78;203;203	B7Z1V3;Q9Y5Q8-3;Q9Y5Q8	.;.;TF3C5_HUMAN	D	203;156;194;78;53;203;203;78	ENSP00000361169:N203D;ENSP00000361171:N194D;ENSP00000361180:N203D;ENSP00000339530:N203D	ENSP00000339530:N203D	N	+	1	0	GTF3C5	134916025	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	8.565000	0.90730	1.934000	0.56057	0.459000	0.35465	AAT		0.607	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1		NM_001122823	
GYPC	2995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	127453643	127453643	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr2:127453643T>G	ENST00000259254.4	+	4	643	c.312T>G	c.(310-312)agT>agG	p.S104R	GYPC_ENST00000356887.7_Missense_Mutation_p.S83R|GYPC_ENST00000409836.3_Missense_Mutation_p.S85R|GYPC_ENST00000464053.1_3'UTR	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	104						cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S104R(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		TTGCTGAGAGTGCAGATGCAG	0.552																																					Melanoma(110;806 1600 6704 9981 33404)												1	Substitution - Missense(1)	kidney(1)											158.0	125.0	136.0					2																	127453643		2203	4300	6503	SO:0001583	missense	2995				CCDS2136.1, CCDS46402.1, CCDS58724.1	2q14-q21	2014-07-19			ENSG00000136732	ENSG00000136732		"""CD molecules"", ""Blood group antigens"""	4704	protein-coding gene	gene with protein product		110750					Standard	NM_016815		Approved	GPC, GYPD, Ge, CD236, CD236R	uc002tnq.4	P04921	OTTHUMG00000131464	ENST00000259254.4:c.312T>G	2.37:g.127453643T>G	ENSP00000259254:p.Ser104Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2R522|Q53SV9|Q92642	Missense_Mutation	SNP	ENST00000259254.4	37	CCDS2136.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.882607	0.72410	.	.	ENSG00000136732	ENST00000259254;ENST00000356887;ENST00000409836	T;T;T	0.19938	2.54;2.11;2.58	5.22	-3.88	0.04205	.	.	.	.	.	T	0.37812	0.1017	M	0.66506	2.035	0.39652	D	0.970489	D;D	0.67145	0.996;0.996	D;D	0.66497	0.924;0.944	T	0.48234	-0.9053	9	0.66056	D	0.02	-0.0897	13.4895	0.61386	0.0:0.3079:0.0:0.6921	.	83;104	P04921-2;P04921	.;GLPC_HUMAN	R	104;83;85	ENSP00000259254:S104R;ENSP00000349354:S83R;ENSP00000386904:S85R	ENSP00000259254:S104R	S	+	3	2	GYPC	127170113	0.000000	0.05858	0.252000	0.24328	0.953000	0.61014	-3.643000	0.00405	-0.638000	0.05509	0.459000	0.35465	AGT		0.552	GYPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254297.1		NM_002101	
HSPA8	3312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	122929405	122929405	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr11:122929405A>G	ENST00000532636.1	-	7	1576	c.1457T>C	c.(1456-1458)cTc>cCc	p.L486P	SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.L467P|HSPA8_ENST00000534319.1_Missense_Mutation_p.L250P|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.L486P|HSPA8_ENST00000533540.1_Missense_Mutation_p.L340P|HSPA8_ENST00000534624.1_Missense_Mutation_p.L486P|SNORD14C_ENST00000365382.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	486					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.L486P(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGAGACATTGAGTATACCATT	0.458																																					Colon(21;486 594 5900 6733 14272)												1	Substitution - Missense(1)	kidney(1)											144.0	137.0	140.0					11																	122929405		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1457T>C	11.37:g.122929405A>G	ENSP00000437125:p.Leu486Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.776805	0.70107	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66	4.45	4.45	0.53987	.	0.078478	0.49305	D	0.000150	T	0.61961	0.2389	H	0.99977	5.17	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.82010	-0.0669	10	0.87932	D	0	-12.3584	14.0257	0.64584	1.0:0.0:0.0:0.0	.	486;486	Q53GZ6;P11142	.;HSP7C_HUMAN	P	486;340;486;486;250;467;77;38	ENSP00000437125:L486P;ENSP00000437189:L340P;ENSP00000432083:L486P;ENSP00000227378:L486P;ENSP00000433316:L250P;ENSP00000433584:L467P;ENSP00000435908:L77P;ENSP00000435019:L38P	ENSP00000227378:L486P	L	-	2	0	HSPA8	122434615	1.000000	0.71417	0.452000	0.26994	0.660000	0.38997	9.306000	0.96204	1.760000	0.52011	0.459000	0.35465	CTC		0.458	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			
ITGAL	3683	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30495241	30495241	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr16:30495241C>G	ENST00000356798.6	+	8	996	c.816C>G	c.(814-816)aaC>aaG	p.N272K	RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_3'UTR|RP11-297C4.3_ENST00000562525.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.N189K|RNU7-61P_ENST00000515897.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	272	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.N272K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	ACAGTGGCAACATCGATGCGG	0.587																																					NSCLC(110;1462 1641 3311 33990 49495)												1	Substitution - Missense(1)	kidney(1)											186.0	162.0	170.0					16																	30495241		2197	4300	6497	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.816C>G	16.37:g.30495241C>G	ENSP00000349252:p.Asn272Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828234	0.32329	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	D;D	0.82984	-1.67;-1.67	5.97	5.02	0.67125	von Willebrand factor, type A (3);	0.364810	0.23402	N	0.048576	D	0.82820	0.5120	L	0.46885	1.475	0.29230	N	0.873345	P;B	0.45531	0.86;0.356	P;B	0.49421	0.61;0.158	T	0.79878	-0.1617	10	0.54805	T	0.06	.	12.2014	0.54328	0.0:0.9205:0.0:0.0795	.	189;272	Q96HB1;P20701	.;ITAL_HUMAN	K	272;189	ENSP00000349252:N272K;ENSP00000350886:N189K	ENSP00000349252:N272K	N	+	3	2	ITGAL	30402742	0.021000	0.18746	0.030000	0.17652	0.014000	0.08584	0.681000	0.25320	1.540000	0.49301	0.591000	0.81541	AAC		0.587	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			
ITSN2	50618	broad.mit.edu;hgsc.bcm.edu	37	2	24494732	24494732	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr2:24494732C>G	ENST00000355123.4	-	19	2603	c.2160G>C	c.(2158-2160)caG>caC	p.Q720H	ITSN2_ENST00000361999.3_Missense_Mutation_p.Q693H|ITSN2_ENST00000406921.3_Missense_Mutation_p.Q720H|SCARNA21_ENST00000515996.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	720					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.Q720H(1)|p.Q719H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ttttttcttcctggagtcgct	0.343																																																	2	Substitution - Missense(2)	kidney(2)											131.0	120.0	124.0					2																	24494732		2202	4300	6502	SO:0001583	missense	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2160G>C	2.37:g.24494732C>G	ENSP00000347244:p.Gln720His	Somatic		WXS	Illumina HiSeq	Phase_I	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314889	0.23908	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.59772	1.49;0.24;1.49;0.69	4.44	3.54	0.40534	.	0.882358	0.08966	U	0.867995	T	0.68421	0.2999	L	0.47716	1.5	0.25144	N	0.990476	D;D;D	0.60575	0.988;0.988;0.98	D;D;D	0.72338	0.977;0.977;0.948	T	0.53961	-0.8364	10	0.45353	T	0.12	.	9.7321	0.40368	0.0:0.8881:0.0:0.1119	.	720;693;720	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	H	693;720;693;720	ENSP00000354561:Q693H;ENSP00000347244:Q720H;ENSP00000370250:Q693H;ENSP00000384499:Q720H	ENSP00000347244:Q720H	Q	-	3	2	ITSN2	24348236	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.751000	0.26348	1.119000	0.41883	0.462000	0.41574	CAG		0.343	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2		NM_006277	
KBTBD3	143879	hgsc.bcm.edu;ucsc.edu	37	11	105924485	105924486	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr11:105924485_105924486delTA	ENST00000526793.1	-	3	1089_1090	c.930_931delTA	c.(928-933)tatacafs	p.T311fs	KBTBD3_ENST00000534815.1_Frame_Shift_Del_p.T232fs|KBTBD3_ENST00000531837.1_Frame_Shift_Del_p.T311fs	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	307										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TAGCAAAATGTATATTGATTTT	0.386																																																	0																																										SO:0001589	frameshift_variant	143879			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.930_931delTA	11.37:g.105924487_105924488delTA	ENSP00000436262:p.Thr311fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6N066|Q86X38|Q96NK5	Frame_Shift_Del	DEL	ENST00000526793.1	37	CCDS8334.1																																																																																				0.386	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2		NM_152433	
KCNH7	90134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	163695012	163695012	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr2:163695012C>G	ENST00000332142.5	-	1	116	c.17G>C	c.(16-18)gGg>gCg	p.G6A	KCNH7_ENST00000328032.4_Missense_Mutation_p.G6A	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	6					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.G6A(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGCCACATGCCCCCTGCGCAC	0.587																																					GBM(196;1492 2208 17507 24132 45496)												2	Substitution - Missense(2)	kidney(2)											118.0	104.0	109.0					2																	163695012		2203	4300	6503	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.17G>C	2.37:g.163695012C>G	ENSP00000331727:p.Gly6Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520595	0.85495	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99898	-6.86;-7.61	5.53	5.53	0.82687	.	0.055725	0.64402	D	0.000001	D	0.99896	0.9950	M	0.87971	2.92	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.87578	0.997;0.998	D	0.96343	0.9252	10	0.87932	D	0	.	18.4516	0.90705	0.0:1.0:0.0:0.0	.	6;6	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	A	6	ENSP00000331727:G6A;ENSP00000333781:G6A	ENSP00000333781:G6A	G	-	2	0	KCNH7	163403258	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.461000	0.80834	2.603000	0.88011	0.585000	0.79938	GGG		0.587	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1		NM_033272	
KIAA0430	9665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15719413	15719413	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr16:15719413C>A	ENST00000396368.3	-	8	1975	c.1769G>T	c.(1768-1770)tGt>tTt	p.C590F	KIAA0430_ENST00000602337.1_Missense_Mutation_p.C587F|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000548025.1_Missense_Mutation_p.C587F|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000551742.1_Missense_Mutation_p.C589F	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	590					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.C590F(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTTTGTTTCACAGAGTTCTCT	0.373																																																	1	Substitution - Missense(1)	kidney(1)											122.0	118.0	119.0					16																	15719413		1838	4098	5936	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.1769G>T	16.37:g.15719413C>A	ENSP00000379654:p.Cys590Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	2.883	-0.231443	0.05983	.	.	ENSG00000166783	ENST00000396368;ENST00000321370;ENST00000548025;ENST00000551742	T;T;T	0.39997	1.05;1.05;1.05	5.29	2.17	0.27698	.	0.361913	0.31636	N	0.007313	T	0.11281	0.0275	N	0.02011	-0.69	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.09335	-1.0679	10	0.08179	T	0.78	.	0.6081	0.00756	0.1831:0.3599:0.1657:0.2913	.	588;587;586	Q9Y4F3-5;F8VV09;Q9Y4F3-4	.;.;.	F	590;589;587;589	ENSP00000379654:C590F;ENSP00000449376:C587F;ENSP00000450309:C589F	ENSP00000315718:C589F	C	-	2	0	KIAA0430	15626914	0.832000	0.29368	1.000000	0.80357	0.998000	0.95712	-0.147000	0.10234	0.681000	0.31386	0.591000	0.81541	TGT		0.373	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2		NM_014647	
KLHL26	55295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18778755	18778755	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr19:18778755C>G	ENST00000300976.4	+	3	638	c.548C>G	c.(547-549)tCg>tGg	p.S183W	KLHL26_ENST00000599006.1_Intron|KLHL26_ENST00000596843.1_3'UTR	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	183	BACK.							p.S183W(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CTGCGAGAGTCGGTGGATGCC	0.632																																																	1	Substitution - Missense(1)	kidney(1)											76.0	63.0	67.0					19																	18778755		2203	4300	6503	SO:0001583	missense	55295				CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.548C>G	19.37:g.18778755C>G	ENSP00000300976:p.Ser183Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565430	0.45694	.	.	ENSG00000167487	ENST00000300976	T	0.70045	-0.45	5.04	5.04	0.67666	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.79009	0.4374	L	0.58510	1.815	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.78393	-0.2221	9	.	.	.	.	17.3648	0.87360	0.0:1.0:0.0:0.0	.	183	Q53HC5	KLH26_HUMAN	W	183	ENSP00000300976:S183W	.	S	+	2	0	KLHL26	18639755	1.000000	0.71417	0.727000	0.30756	0.330000	0.28571	4.659000	0.61504	2.341000	0.79615	0.591000	0.81541	TCG		0.632	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1		NM_018316	
KRTAP5-1	387264	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1605898	1605898	+	Silent	SNP	C	C	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr11:1605898C>T	ENST00000382171.2	-	1	615	c.582G>A	c.(580-582)aaG>aaA	p.K194K	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	194	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.K194K(1)		endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAACCCCCCTTGGATCCCC	0.672																																																	1	Substitution - coding silent(1)	kidney(1)											41.0	53.0	49.0					11																	1605898		2202	4298	6500	SO:0001819	synonymous_variant	387264			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.582G>A	11.37:g.1605898C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000382171.2	37	CCDS31330.1																																																																																				0.672	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1		NM_001005922	
LPAL2	80350	broad.mit.edu;ucsc.edu	37	6	160908435	160908435	+	RNA	SNP	G	G	A	rs553924410		TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr6:160908435G>A	ENST00000335388.5	-	0	537					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CGAACAATCCGGATTCCTGCA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		17707	0.0		0.001	False		,,,				2504	0.0																0													112.0	99.0	103.0					6																	160908435		2203	4300	6503			80350			U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160908435G>A		Somatic		WXS	Illumina GAIIx	Phase_I	E1P5B4	RNA	SNP	ENST00000335388.5	37																																																																																					0.493	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1		NM_024492	
LRRC3	81543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	45876771	45876771	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr21:45876771G>A	ENST00000291592.4	+	2	561	c.244G>A	c.(244-246)Ggg>Agg	p.G82R	LRRC3-AS1_ENST00000426578.1_RNA	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	82						integral component of membrane (GO:0016021)		p.G82R(1)		endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CCTCCCGGACGGGGCCTTCCA	0.677																																																	1	Substitution - Missense(1)	kidney(1)											38.0	42.0	40.0					21																	45876771		2203	4300	6503	SO:0001583	missense	81543			AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 102"""	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.244G>A	21.37:g.45876771G>A	ENSP00000291592:p.Gly82Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	G	9.541	1.113500	0.20795	.	.	ENSG00000160233	ENST00000291592;ENST00000471776	T	0.58060	0.36	4.64	2.69	0.31865	.	0.690968	0.14109	N	0.340806	T	0.30417	0.0764	L	0.31526	0.94	0.09310	N	1	P	0.37141	0.584	B	0.28638	0.092	T	0.17471	-1.0368	10	0.49607	T	0.09	-20.6374	2.7561	0.05293	0.2738:0.267:0.4592:0.0	.	82	Q9BY71	LRRC3_HUMAN	R	82	ENSP00000291592:G82R	ENSP00000291592:G82R	G	+	1	0	LRRC3	44701199	0.044000	0.20184	0.194000	0.23346	0.330000	0.28571	0.519000	0.22862	2.294000	0.77228	0.561000	0.74099	GGG		0.677	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3			
MEP1B	4225	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	29775406	29775406	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr18:29775406A>G	ENST00000269202.6	+	5	255	c.208A>G	c.(208-210)Aga>Gga	p.R70G	MEP1B_ENST00000581447.1_Missense_Mutation_p.R70G	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	70	Metalloprotease.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R70G(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGAAAAGTATAGATGGCCTCA	0.338																																																	1	Substitution - Missense(1)	kidney(1)											140.0	129.0	133.0					18																	29775406		1834	4083	5917	SO:0001583	missense	4225			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.208A>G	18.37:g.29775406A>G	ENSP00000269202:p.Arg70Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.706422	0.68615	.	.	ENSG00000141434	ENST00000269202	T	0.65732	-0.17	5.43	5.43	0.79202	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.044496	0.85682	D	0.000000	D	0.84556	0.5498	H	0.96518	3.835	0.47123	D	0.999327	D	0.89917	1.0	D	0.97110	1.0	D	0.88681	0.3202	10	0.87932	D	0	-25.3307	11.8272	0.52273	0.8112:0.1888:0.0:0.0	.	70	Q16820	MEP1B_HUMAN	G	70	ENSP00000269202:R70G	ENSP00000269202:R70G	R	+	1	2	MEP1B	28029404	0.965000	0.33210	0.902000	0.35471	0.916000	0.54674	2.333000	0.43912	2.054000	0.61138	0.482000	0.46254	AGA		0.338	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1		NM_005925	
MN1	4330	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	28192870	28192870	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr22:28192870G>A	ENST00000302326.4	-	1	4616	c.3662C>T	c.(3661-3663)gCa>gTa	p.A1221V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1221					intramembranous ossification (GO:0001957)			p.A1221V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCTGTGCTCTGCCATCAGCGA	0.667			T	ETV6	"""AML, meningioma"""																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	1	Substitution - Missense(1)	kidney(1)											62.0	65.0	64.0					22																	28192870		2167	4266	6433	SO:0001583	missense	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3662C>T	22.37:g.28192870G>A	ENSP00000304956:p.Ala1221Val	Somatic		WXS	Illumina HiSeq	Phase_I	A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784049	0.90282	.	.	ENSG00000169184	ENST00000302326	T	0.58797	0.31	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.63379	0.2506	L	0.27053	0.805	0.53005	D	0.999963	D	0.65815	0.995	P	0.61800	0.894	T	0.67872	-0.5558	10	0.66056	D	0.02	-8.2322	17.4561	0.87607	0.0:0.0:1.0:0.0	.	1221	Q10571	MN1_HUMAN	V	1221	ENSP00000304956:A1221V	ENSP00000304956:A1221V	A	-	2	0	MN1	26522870	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.173000	0.94815	2.349000	0.79799	0.456000	0.33151	GCA		0.667	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1		NM_002430	
MOV10L1	54456	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50538014	50538014	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr22:50538014T>C	ENST00000262794.5	+	3	508	c.425T>C	c.(424-426)cTg>cCg	p.L142P	MOV10L1_ENST00000545383.1_Missense_Mutation_p.L142P|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.L142P|MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.L122P	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	142					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.L142P(1)|p.L122P(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TACTTCTCTCTGGAGAGTGTG	0.522																																																	2	Substitution - Missense(2)	kidney(2)											121.0	100.0	107.0					22																	50538014		2203	4300	6503	SO:0001583	missense	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.425T>C	22.37:g.50538014T>C	ENSP00000262794:p.Leu142Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	T	5.339	0.247791	0.10130	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615;ENST00000428564	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.76	4.73	0.59995	.	0.420838	0.24158	N	0.041006	T	0.48554	0.1506	M	0.78637	2.42	0.20563	N	0.999887	B;B;B;B	0.20550	0.016;0.025;0.046;0.009	B;B;B;B	0.20955	0.032;0.02;0.014;0.014	T	0.48670	-0.9015	10	0.54805	T	0.06	-10.6842	9.4579	0.38767	0.0:0.0816:0.0:0.9184	.	122;122;142;142	F5H403;E7EPK8;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	P	142;142;142;122;122	ENSP00000438978:L142P;ENSP00000262794:L142P;ENSP00000379199:L142P;ENSP00000438542:L122P	ENSP00000262794:L142P	L	+	2	0	MOV10L1	48880141	0.148000	0.22702	0.870000	0.34147	0.084000	0.17831	1.414000	0.34736	1.010000	0.39314	0.533000	0.62120	CTG		0.522	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2		NM_018995	
MTERF1	7978	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	91503200	91503200	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr7:91503200A>C	ENST00000351870.3	-	3	1001	c.908T>G	c.(907-909)cTt>cGt	p.L303R	MTERF_ENST00000419292.1_Missense_Mutation_p.L283R|MTERF_ENST00000406735.2_Missense_Mutation_p.L283R	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		303					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.L303R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			AGTACATCCAAGAGAAAACAG	0.408																																																	1	Substitution - Missense(1)	kidney(1)											69.0	66.0	67.0					7																	91503200		2203	4300	6503	SO:0001583	missense	7978																														ENST00000351870.3:c.908T>G	7.37:g.91503200A>C	ENSP00000248643:p.Leu303Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	ENST00000351870.3	37	CCDS5621.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.876709	0.51801	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735	T;T;T	0.16457	2.34;2.34;2.34	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000005	T	0.35128	0.0921	M	0.68952	2.095	0.44677	D	0.997665	D	0.71674	0.998	D	0.65773	0.938	T	0.05784	-1.0864	10	0.52906	T	0.07	-6.6072	10.0087	0.41972	0.8483:0.0:0.0:0.1517	.	303	Q99551	MTERF_HUMAN	R	283;303;283	ENSP00000414116:L283R;ENSP00000248643:L303R;ENSP00000384986:L283R	ENSP00000248643:L303R	L	-	2	0	MTERF	91341136	1.000000	0.71417	0.996000	0.52242	0.852000	0.48524	3.922000	0.56462	2.139000	0.66308	0.477000	0.44152	CTT		0.408	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1			
MTSS1	9788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	125568525	125568525	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr8:125568525G>A	ENST00000518547.1	-	12	1825	c.1352C>T	c.(1351-1353)gCa>gTa	p.A451V	MTSS1_ENST00000325064.5_Missense_Mutation_p.A455V|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000395508.2_Missense_Mutation_p.A225V|MTSS1_ENST00000378017.3_Missense_Mutation_p.A426V|MTSS1_ENST00000431961.2_Missense_Mutation_p.A169V|MTSS1_ENST00000354184.4_Missense_Mutation_p.A169V|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000524090.1_Missense_Mutation_p.A341V	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	451					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.A451V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTCCTCAGCTGCTGCAGGTGG	0.632																																					Esophageal Squamous(160;622 1893 3862 8546 12509)												1	Substitution - Missense(1)	kidney(1)											85.0	71.0	76.0					8																	125568525		2203	4300	6503	SO:0001583	missense	9788			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.1352C>T	8.37:g.125568525G>A	ENSP00000429064:p.Ala451Val	Somatic		WXS	Illumina HiSeq	Phase_I	J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	G	9.899	1.206258	0.22205	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090	T;T;T;T;T;T;T	0.32023	1.48;1.48;1.49;1.48;1.48;1.49;1.47	4.82	3.93	0.45458	.	0.938659	0.08996	N	0.863739	T	0.18718	0.0449	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;P	0.36874	0.039;0.363;0.102;0.005;0.009;0.572	B;B;B;B;B;B	0.33960	0.025;0.073;0.034;0.002;0.014;0.173	T	0.13335	-1.0513	10	0.28530	T	0.3	-1.5997	10.3443	0.43897	0.0:0.146:0.7026:0.1514	.	341;225;426;451;426;169	E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2	.;.;.;MTSS1_HUMAN;.;.	V	426;451;169;225;455;169;341	ENSP00000367256:A426V;ENSP00000429064:A451V;ENSP00000346119:A169V;ENSP00000378884:A225V;ENSP00000322804:A455V;ENSP00000393606:A169V;ENSP00000428319:A341V	ENSP00000322804:A455V	A	-	2	0	MTSS1	125637706	0.147000	0.22687	0.001000	0.08648	0.010000	0.07245	2.852000	0.48310	0.991000	0.38814	0.455000	0.32223	GCA		0.632	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3		NM_014751	
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)												5	Unknown(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)								1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190			AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		Somatic		WXS	Illumina GAIIx	Phase_I	Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37	CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			
NYNRIN	57523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24878974	24878974	+	Silent	SNP	A	A	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr14:24878974A>T	ENST00000382554.3	+	4	2292	c.1974A>T	c.(1972-1974)gcA>gcT	p.A658A		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	658					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.A658A(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGCACCTGCAGCTTCCAAAG	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											38.0	41.0	40.0					14																	24878974		1925	4135	6060	SO:0001819	synonymous_variant	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1974A>T	14.37:g.24878974A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	CCDS45090.1																																																																																				0.572	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			
OR52E4	390081	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5906001	5906001	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr11:5906001C>T	ENST00000316987.2	+	1	501	c.479C>T	c.(478-480)cCa>cTa	p.P160L		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P160L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTGTAACCCCATTTGTGTTT	0.493																																																	1	Substitution - Missense(1)	kidney(1)											153.0	136.0	142.0					11																	5906001		2201	4296	6497	SO:0001583	missense	390081			AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.479C>T	11.37:g.5906001C>T	ENSP00000321426:p.Pro160Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032254	0.54790	.	.	ENSG00000180974	ENST00000316987	T	0.44482	0.92	5.15	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000141	T	0.59500	0.2198	M	0.84683	2.71	0.27107	N	0.962469	P	0.40681	0.727	P	0.50825	0.651	T	0.59643	-0.7416	10	0.87932	D	0	.	12.349	0.55136	0.0:0.9179:0.0:0.0821	.	160	Q8NGH9	O52E4_HUMAN	L	160	ENSP00000321426:P160L	ENSP00000321426:P160L	P	+	2	0	OR52E4	5862577	0.000000	0.05858	0.958000	0.39756	0.945000	0.59286	0.848000	0.27710	1.390000	0.46547	0.643000	0.83706	CCA		0.493	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1		NM_001005165	
OR4A15	81328	broad.mit.edu;hgsc.bcm.edu	37	11	55135733	55135733	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr11:55135733G>C	ENST00000314706.3	+	1	374	c.374G>C	c.(373-375)tGt>tCt	p.C125S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C125S(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTTCAGGGTTGTATGGCTCAA	0.398																																																	1	Substitution - Missense(1)	kidney(1)											160.0	158.0	159.0					11																	55135733		2201	4294	6495	SO:0001583	missense	81328			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.374G>C	11.37:g.55135733G>C	ENSP00000325065:p.Cys125Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	g	12.97	2.097926	0.37048	.	.	ENSG00000181958	ENST00000314706	T	0.00540	6.7	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.04634	0.0126	H	0.98786	4.33	0.45777	D	0.998664	D	0.76494	0.999	D	0.74674	0.984	T	0.01516	-1.1335	10	0.87932	D	0	.	12.5491	0.56216	0.0:0.0:1.0:0.0	.	125	Q8NGL6	O4A15_HUMAN	S	125	ENSP00000325065:C125S	ENSP00000325065:C125S	C	+	2	0	OR4A15	54892309	1.000000	0.71417	0.011000	0.14972	0.088000	0.18126	4.337000	0.59310	1.785000	0.52413	0.492000	0.49549	TGT		0.398	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1		NM_001005275	
PAFAH2	5051	broad.mit.edu;hgsc.bcm.edu	37	1	26288568	26288568	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr1:26288568T>G	ENST00000374282.3	-	11	1270	c.1091A>C	c.(1090-1092)aAa>aCa	p.K364T	RNU6-110P_ENST00000384508.1_RNA|PAFAH2_ENST00000374284.1_Missense_Mutation_p.K364T	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	364					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)	p.K364T(1)		NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		ATAGTCTTCTTTCAGGTCTGA	0.483																																																	1	Substitution - Missense(1)	kidney(1)											118.0	113.0	114.0					1																	26288568		2203	4300	6503	SO:0001583	missense	5051			D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.1091A>C	1.37:g.26288568T>G	ENSP00000363400:p.Lys364Thr	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	ENST00000374282.3	37	CCDS270.1	.	.	.	.	.	.	.	.	.	.	T	13.02	2.113093	0.37339	.	.	ENSG00000158006	ENST00000374282;ENST00000374284	T;T	0.42900	0.96;0.96	5.2	5.2	0.72013	.	0.419298	0.22569	N	0.058365	T	0.29588	0.0738	L	0.27053	0.805	0.27844	N	0.940986	B	0.31413	0.322	B	0.28553	0.091	T	0.20107	-1.0285	10	0.39692	T	0.17	-0.9662	11.7436	0.51807	0.0:0.0:0.0:1.0	.	364	Q99487	PAFA2_HUMAN	T	364	ENSP00000363400:K364T;ENSP00000363402:K364T	ENSP00000363400:K364T	K	-	2	0	PAFAH2	26161155	0.998000	0.40836	0.983000	0.44433	0.518000	0.34316	3.873000	0.56093	2.099000	0.63709	0.533000	0.62120	AAA		0.483	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1		NM_000437	
PITRM1	10531	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	3209166	3209166	+	Nonsense_Mutation	SNP	A	A	C	rs376035210		TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr10:3209166A>C	ENST00000224949.4	-	3	262	c.228T>G	c.(226-228)taT>taG	p.Y76*	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Nonsense_Mutation_p.Y44*|PITRM1_ENST00000380989.2_Nonsense_Mutation_p.Y76*|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	76					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.Y76*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CCAGGTGTAAATACCTGGCTC	0.428																																																	1	Substitution - Nonsense(1)	kidney(1)											76.0	76.0	76.0					10																	3209166		1946	4134	6080	SO:0001587	stop_gained	10531			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.228T>G	10.37:g.3209166A>C	ENSP00000224949:p.Tyr76*	Somatic		WXS	Illumina HiSeq	Phase_I	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Nonsense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	a	15.28	2.788138	0.49997	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	.	.	.	4.91	-2.65	0.06095	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6524	0.56768	0.363:0.0:0.637:0.0	.	.	.	.	X	76;69;76;44	.	ENSP00000224949:Y76X	Y	-	3	2	PITRM1	3199166	0.993000	0.37304	0.004000	0.12327	0.136000	0.21042	0.211000	0.17474	-0.523000	0.06409	-0.464000	0.05259	TAT		0.428	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			
PNLIP	5406	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	118318744	118318744	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr10:118318744G>T	ENST00000369221.2	+	10	1037	c.1009G>T	c.(1009-1011)Gat>Tat	p.D337Y		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	337					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.D337Y(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GAAAACAAATGATGTGGGCCA	0.368																																																	2	Substitution - Missense(2)	kidney(2)											112.0	110.0	110.0					10																	118318744		2203	4300	6503	SO:0001583	missense	5406			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1009G>T	10.37:g.118318744G>T	ENSP00000358223:p.Asp337Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470727	0.26423	.	.	ENSG00000175535	ENST00000369221	D	0.90620	-2.7	6.05	-1.87	0.07737	Lipase, N-terminal (1);	2.171220	0.01579	N	0.020968	T	0.79100	0.4389	N	0.04636	-0.2	0.09310	N	1	P	0.35872	0.525	B	0.35240	0.198	T	0.73316	-0.4021	10	0.72032	D	0.01	.	5.3492	0.16026	0.3715:0.0:0.4224:0.206	.	337	P16233	LIPP_HUMAN	Y	337	ENSP00000358223:D337Y	ENSP00000358223:D337Y	D	+	1	0	PNLIP	118308734	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.049000	0.14099	-0.064000	0.13043	-0.143000	0.13931	GAT		0.368	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1		NM_000936	
PRSS27	83886	broad.mit.edu	37	16	2764245	2764245	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr16:2764245A>C	ENST00000302641.3	-	4	383	c.329T>G	c.(328-330)gTg>gGg	p.V110G	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	110	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.V110G(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						GTTGCTCTCCACCTGCCTCAC	0.662																																																	2	Substitution - Missense(2)	endometrium(1)|kidney(1)																																								SO:0001583	missense	83886			AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"""Serine peptidases / Serine peptidases"""	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.329T>G	16.37:g.2764245A>C	ENSP00000306390:p.Val110Gly	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000302641.3	37	CCDS10476.1	.	.	.	.	.	.	.	.	.	.	.	13.63	2.293468	0.40594	.	.	ENSG00000172382	ENST00000302641;ENST00000543965	D	0.90676	-2.71	4.9	4.9	0.64082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.144158	0.31577	N	0.007416	D	0.95329	0.8484	M	0.87758	2.905	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.75020	0.985;0.955	D	0.95846	0.8870	10	0.87932	D	0	.	12.4764	0.55817	1.0:0.0:0.0:0.0	.	110;74	Q9BQR3;B3KP25	PRS27_HUMAN;.	G	110;74	ENSP00000306390:V110G	ENSP00000306390:V110G	V	-	2	0	PRSS27	2704246	0.576000	0.26700	0.978000	0.43139	0.604000	0.37047	3.308000	0.51896	1.845000	0.53610	0.379000	0.24179	GTG		0.662	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1		NM_031948	
PRSS21	10942	broad.mit.edu;ucsc.edu	37	16	2871075	2871075	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr16:2871075G>T	ENST00000005995.3	+	5	712	c.670G>T	c.(670-672)Gct>Tct	p.A224S	PRSS21_ENST00000450020.3_Intron|PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000455114.1_Missense_Mutation_p.A222S			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	224	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A224S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						CATGGTTTGTGCTGGCAATGC	0.532																																																	1	Substitution - Missense(1)	kidney(1)											310.0	278.0	289.0					16																	2871075		2198	4300	6498	SO:0001583	missense	10942			AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"""Serine peptidases / Serine peptidases"""	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.670G>T	16.37:g.2871075G>T	ENSP00000005995:p.Ala224Ser	Somatic		WXS	Illumina GAIIx	Phase_I	Q9NS34|Q9P2V6	Missense_Mutation	SNP	ENST00000005995.3	37	CCDS10478.1	.	.	.	.	.	.	.	.	.	.	g	17.84	3.486881	0.63962	.	.	ENSG00000007038	ENST00000455114;ENST00000005995	D;D	0.85773	-2.03;-2.03	4.26	3.3	0.37823	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.92221	0.7533	M	0.88241	2.94	0.40380	D	0.979432	D;D	0.76494	0.999;0.998	D;D	0.79784	0.992;0.993	D	0.92596	0.6087	9	0.87932	D	0	.	10.162	0.42858	0.0997:0.0:0.9003:0.0	.	224;222	Q9Y6M0;Q9Y6M0-2	TEST_HUMAN;.	S	222;224	ENSP00000400632:A222S;ENSP00000005995:A224S	ENSP00000005995:A224S	A	+	1	0	PRSS21	2811076	0.995000	0.38212	0.006000	0.13384	0.080000	0.17528	3.107000	0.50329	1.006000	0.39211	0.567000	0.79289	GCT		0.532	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1		NM_006799	
PSG3	5671	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	43243171	43243171	+	Silent	SNP	A	A	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr19:43243171A>T	ENST00000327495.5	-	2	319	c.135T>A	c.(133-135)gtT>gtA	p.V45V	PSG3_ENST00000490592.1_5'UTR|PSG3_ENST00000595140.1_Silent_p.V45V	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	45	Ig-like V-type.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.V45V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCCCCTTGGAAACTTTGGTTG	0.463																																																	1	Substitution - coding silent(1)	kidney(1)											193.0	202.0	199.0					19																	43243171		2203	4300	6503	SO:0001819	synonymous_variant	5671				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.135T>A	19.37:g.43243171A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	ENST00000327495.5	37	CCDS12611.1																																																																																				0.463	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2		NM_021016	
RASSF9	9182	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	86199447	86199447	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr12:86199447A>C	ENST00000361228.3	-	2	709	c.341T>G	c.(340-342)tTg>tGg	p.L114W		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	114	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)	p.L114W(2)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTTTAACCAAAACAAATTG	0.468																																																	2	Substitution - Missense(2)	kidney(2)											136.0	136.0	136.0					12																	86199447		1908	4135	6043	SO:0001583	missense	9182				CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.341T>G	12.37:g.86199447A>C	ENSP00000354884:p.Leu114Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.714058	0.48622	.	.	ENSG00000198774	ENST00000361228	T	0.69926	-0.44	4.87	4.87	0.63330	Ras-association (2);	0.000000	0.64402	D	0.000011	D	0.85287	0.5662	M	0.92219	3.285	0.53005	D	0.999966	D	0.89917	1.0	D	0.77557	0.99	D	0.89180	0.3543	10	0.87932	D	0	-10.4914	14.748	0.69501	1.0:0.0:0.0:0.0	.	114	O75901	RASF9_HUMAN	W	114	ENSP00000354884:L114W	ENSP00000354884:L114W	L	-	2	0	RASSF9	84723578	1.000000	0.71417	0.998000	0.56505	0.200000	0.23975	9.213000	0.95133	1.961000	0.56991	0.496000	0.49642	TTG		0.468	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			
RSPH6A	81492	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46317992	46317992	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr19:46317992T>G	ENST00000221538.3	-	1	585	c.443A>C	c.(442-444)cAg>cCg	p.Q148P	RSPH6A_ENST00000597055.1_Missense_Mutation_p.Q148P|SYMPK_ENST00000598155.1_5'Flank	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	148						intracellular (GO:0005622)		p.Q148P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GAGGTTGAACTGGCCCAAGGG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											49.0	52.0	51.0					19																	46317992		2203	4300	6503	SO:0001583	missense	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.443A>C	19.37:g.46317992T>G	ENSP00000221538:p.Gln148Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	T	9.152	1.016580	0.19355	.	.	ENSG00000104941	ENST00000221538	T	0.22743	1.94	4.15	-0.586	0.11694	.	1.564430	0.04208	N	0.331202	T	0.12050	0.0293	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24297	-1.0164	10	0.22706	T	0.39	1.9675	1.5959	0.02664	0.1701:0.1003:0.3516:0.3781	.	148	Q9H0K4	RSH6A_HUMAN	P	148	ENSP00000221538:Q148P	ENSP00000221538:Q148P	Q	-	2	0	RSPH6A	51009832	0.109000	0.22037	0.006000	0.13384	0.001000	0.01503	0.280000	0.18790	-0.088000	0.12506	-1.035000	0.02400	CAG		0.607	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			
SBNO1	55206	hgsc.bcm.edu;ucsc.edu	37	12	123794374	123794377	+	Frame_Shift_Del	DEL	TATT	TATT	-			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	TATT	TATT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr12:123794374_123794377delTATT	ENST00000602398.1	-	26	3449_3452	c.3322_3325delAATA	c.(3322-3327)aatagafs	p.NR1108fs	SBNO1_ENST00000602750.1_Frame_Shift_Del_p.NR1107fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.NR1107fs|SBNO1_ENST00000420886.2_Frame_Shift_Del_p.NR1108fs			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1108					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCTAAAATTCTATTTAAGAATTTT	0.299																																																	0																																										SO:0001589	frameshift_variant	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3322_3325delAATA	12.37:g.123794374_123794377delTATT	ENSP00000473665:p.Asn1108fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Frame_Shift_Del	DEL	ENST00000602398.1	37	CCDS53844.1																																																																																				0.299	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1		NM_018183	
SERPINA9	327657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94936172	94936172	+	Silent	SNP	T	T	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr14:94936172T>C	ENST00000380365.3	-	2	84	c.6A>G	c.(4-6)gcA>gcG	p.A2A	SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000539349.1_5'UTR|SERPINA9_ENST00000337425.5_Silent_p.A20A|SERPINA9_ENST00000298845.7_Silent_p.A20A			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	2					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A20A(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AAAGGTAAGATGCCATTTTGG	0.517																																																	2	Substitution - coding silent(2)	kidney(2)											79.0	77.0	77.0					14																	94936172		1968	4161	6129	SO:0001819	synonymous_variant	327657			AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.6A>G	14.37:g.94936172T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Silent	SNP	ENST00000380365.3	37																																																																																					0.517	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2		NM_175739	
SESTD1	91404	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179979860	179979860	+	Missense_Mutation	SNP	T	T	C	rs202072498	byFrequency	TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr2:179979860T>C	ENST00000428443.3	-	16	2087	c.1771A>G	c.(1771-1773)Aca>Gca	p.T591A		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	591							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.T591A(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GATGCTATTGTAAATTGTTTC	0.408													T|||	2	0.000399361	0.0	0.0	5008	,	,		17526	0.002		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											108.0	95.0	99.0					2																	179979860		2203	4300	6503	SO:0001583	missense	91404			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1771A>G	2.37:g.179979860T>C	ENSP00000415332:p.Thr591Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	CCDS33338.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	16.12	3.032190	0.54790	.	.	ENSG00000187231	ENST00000428443	T	0.34275	1.37	5.82	5.82	0.92795	.	0.092270	0.64402	D	0.000001	T	0.32194	0.0821	N	0.19112	0.55	0.58432	D	0.999996	B;D	0.53312	0.243;0.959	B;P	0.47744	0.05;0.556	T	0.04413	-1.0953	9	.	.	.	-14.0879	16.1698	0.81801	0.0:0.0:0.0:1.0	.	591;591	Q86VW0;B3KTX3	SESD1_HUMAN;.	A	591	ENSP00000415332:T591A	.	T	-	1	0	SESTD1	179688105	1.000000	0.71417	0.293000	0.24932	0.995000	0.86356	7.672000	0.83956	2.207000	0.71202	0.533000	0.62120	ACA		0.408	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2		NM_178123	
SNRNP48	154007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7594021	7594021	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr6:7594021T>A	ENST00000342415.5	+	2	270	c.211T>A	c.(211-213)Ttg>Atg	p.L71M		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	71					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)	p.L71M(1)		kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TAAATCATCTTTGGCAAAGCA	0.308																																																	1	Substitution - Missense(1)	kidney(1)											102.0	102.0	102.0					6																	7594021		2203	4300	6503	SO:0001583	missense	154007			AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.211T>A	6.37:g.7594021T>A	ENSP00000339834:p.Leu71Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	37	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.068863	0.55539	.	.	ENSG00000168566	ENST00000342415;ENST00000397475	T	0.60424	0.19	5.11	1.42	0.22433	TRM13/UPF0224 family, U11-48K-like CHHC zinc finger domain (1);	0.140416	0.49916	D	0.000128	T	0.55000	0.1893	L	0.57536	1.79	0.36058	D	0.841251	D	0.89917	1.0	D	0.91635	0.999	T	0.55560	-0.8122	10	0.42905	T	0.14	-10.861	7.5034	0.27530	0.0:0.3597:0.0:0.6403	.	71	Q6IEG0	SNR48_HUMAN	M	71	ENSP00000339834:L71M	ENSP00000339834:L71M	L	+	1	2	SNRNP48	7539020	0.114000	0.22134	0.739000	0.30968	0.933000	0.57130	-0.125000	0.10579	0.066000	0.16515	0.533000	0.62120	TTG		0.308	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3		NM_152551	
SOX6	55553	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	16133398	16133398	+	Silent	SNP	A	A	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr11:16133398A>G	ENST00000352083.6	-	7	926	c.849T>C	c.(847-849)gcT>gcC	p.A283A	SOX6_ENST00000396356.3_Silent_p.A283A|SOX6_ENST00000316399.6_Silent_p.A283A|SOX6_ENST00000528429.1_Silent_p.A283A|SOX6_ENST00000527619.1_Silent_p.A286A|SOX6_ENST00000528252.1_Silent_p.A283A			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	283	Poly-Ala.				astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A286A(1)|p.A283A(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GTTGGGCAGCAGCAGCTGCTG	0.488																																																	2	Substitution - coding silent(2)	kidney(2)											82.0	84.0	83.0					11																	16133398		2200	4294	6494	SO:0001819	synonymous_variant	55553			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.849T>C	11.37:g.16133398A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37																																																																																					0.488	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1		NM_033326	
TAF15	8148	hgsc.bcm.edu	37	17	34171624	34171650	+	In_Frame_Del	DEL	AGAAGTGGGGGCGGCTATGGTGGAGAC	AGAAGTGGGGGCGGCTATGGTGGAGAC	-	rs150034643|rs145295353	byFrequency	TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	AGAAGTGGGGGCGGCTATGGTGGAGAC	AGAAGTGGGGGCGGCTATGGTGGAGAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr17:34171624_34171650delAGAAGTGGGGGCGGCTATGGTGGAGAC	ENST00000588240.1	+	15	1436_1462	c.1321_1347delAGAAGTGGGGGCGGCTATGGTGGAGAC	c.(1321-1347)agaagtgggggcggctatggtggagacdel	p.RSGGGYGGD450del	TAF15_ENST00000311979.3_In_Frame_Del_p.RSGGGYGGD447del|TAF15_ENST00000592237.1_Intron	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		cagcggagatagaagtgggggcggctatggtggagacagaagtgggg	0.634			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																			Dom	yes		17	17q11.1-q11.2	8148	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""		"""L, M"""	0																																										SO:0001651	inframe_deletion	8148			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1321_1347delAGAAGTGGGGGCGGCTATGGTGGAGAC	17.37:g.34171624_34171650delAGAAGTGGGGGCGGCTATGGTGGAGAC	ENSP00000466950:p.Arg450_Asp458del	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPM5|Q15775|Q5T077	In_Frame_Del	DEL	ENST00000588240.1	37	CCDS32623.1																																																																																				0.634	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1		NM_139215	
TPTE2	93492	broad.mit.edu	37	13	20077377	20077377	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr13:20077377G>A	ENST00000400230.2	-	0	42				TPTE2_ENST00000382975.4_De_novo_Start_OutOfFrame|TPTE2_ENST00000255310.6_De_novo_Start_OutOfFrame|TPTE2_ENST00000400103.2_De_novo_Start_OutOfFrame|TPTE2_ENST00000382978.1_De_novo_Start_OutOfFrame|TPTE2_ENST00000390680.2_De_novo_Start_OutOfFrame|TPTE2_ENST00000382977.4_De_novo_Start_OutOfFrame|TPTE2_ENST00000457266.2_De_novo_Start_OutOfFrame			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2						phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			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)		TCATTCATACGTGCCTCTGGG	0.353																																																	0													171.0	135.0	147.0					13																	20077377		2203	4300	6503			93492			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.-3C>T	13.37:g.20077377G>A		Somatic		WXS	Illumina GAIIx	Phase_I	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Translation_Start_Site	SNP	ENST00000400230.2	37	CCDS45014.1																																																																																				0.353	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_199254	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10183863	10183863	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr3:10183863G>A	ENST00000256474.2	+	1	1172	c.332G>A	c.(331-333)aGc>aAc	p.S111N	VHL_ENST00000345392.2_Missense_Mutation_p.S111N|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	111	Involved in binding to CCT complex.		S -> C (in VHLD; type II).|S -> N (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|S -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S111N(5)|p.S111I(2)|p.S111fs*49(1)|p.?(1)|p.I109_R113del(1)|p.S111fs*22(1)|p.S111fs*45(1)|p.H110_S111del(1)|p.S111_Y112del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCATCCACAGCTACCGAGGT	0.692		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	14	Substitution - Missense(7)|Deletion - In frame(3)|Insertion - Frameshift(2)|Deletion - Frameshift(1)|Unknown(1)	kidney(14)	GRCh37	CM951280|HM971583	VHL	M							10.0	12.0	11.0					3																	10183863		1804	3758	5562	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.332G>A	3.37:g.10183863G>A	ENSP00000256474:p.Ser111Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342270	0.61073	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99760	-6.66;-6.66	5.17	3.37	0.38596	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.096185	0.64402	N	0.000001	D	0.98532	0.9510	L	0.36672	1.1	0.21220	N	0.999751	B;B	0.27229	0.172;0.143	B;B	0.31686	0.134;0.091	D	0.99293	1.0899	10	0.54805	T	0.06	-5.879	4.2645	0.10757	0.0854:0.1565:0.5963:0.1618	.	111;111	P40337-2;P40337	.;VHL_HUMAN	N	111;111;29	ENSP00000256474:S111N;ENSP00000344757:S111N	ENSP00000256474:S111N	S	+	2	0	VHL	10158863	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.866000	0.56040	0.580000	0.29522	0.479000	0.44913	AGC		0.692	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WASF2	10163	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	27739130	27739130	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr1:27739130A>T	ENST00000430629.2	-	7	975	c.760T>A	c.(760-762)Tct>Act	p.S254T	WASF2_ENST00000536657.1_Missense_Mutation_p.S254T	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	254					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)	p.S254T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GAAGAAGCAGAGTCTGACTGT	0.502																																																	1	Substitution - Missense(1)	kidney(1)											242.0	209.0	220.0					1																	27739130		2203	4300	6503	SO:0001583	missense	10163			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.760T>A	1.37:g.27739130A>T	ENSP00000396211:p.Ser254Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	CCDS304.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.727070	0.30593	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T	0.44083	0.93	5.51	3.08	0.35506	.	0.516039	0.21442	N	0.074477	T	0.21801	0.0525	N	0.17082	0.46	0.41284	D	0.986934	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.06023	-1.0850	10	0.10902	T	0.67	-9.0288	7.355	0.26714	0.7061:0.1504:0.0:0.1435	.	254;254	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	T	254	ENSP00000396211:S254T	ENSP00000396211:S254T	S	-	1	0	WASF2	27611717	1.000000	0.71417	0.974000	0.42286	0.903000	0.53119	1.605000	0.36815	0.460000	0.27045	0.455000	0.32223	TCT		0.502	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1		NM_006990	
WRN	7486	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	30977877	30977877	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr8:30977877G>A	ENST00000298139.5	+	21	2816	c.2567G>A	c.(2566-2568)gGt>gAt	p.G856D		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	856	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.G856D(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GGTAGAGCTGGTCGTGATGGA	0.393			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	1	Substitution - Missense(1)	kidney(1)											134.0	127.0	129.0					8																	30977877		2203	4299	6502	SO:0001583	missense	7486	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2567G>A	8.37:g.30977877G>A	ENSP00000298139:p.Gly856Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842471	0.91197	.	.	ENSG00000165392	ENST00000298139	D	0.81821	-1.54	5.76	5.76	0.90799	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95529	0.8547	H	0.99897	4.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97392	0.9990	10	0.87932	D	0	-14.8822	19.9192	0.97079	0.0:0.0:1.0:0.0	.	266;856	Q59F09;Q14191	.;WRN_HUMAN	D	856	ENSP00000298139:G856D	ENSP00000298139:G856D	G	+	2	0	WRN	31097419	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.146000	0.89626	2.882000	0.98803	0.655000	0.94253	GGT		0.393	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			
ZMYM2	7750	broad.mit.edu;ucsc.edu	37	13	20601355	20601355	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr13:20601355T>G	ENST00000382874.2	+	10	1938	c.1748T>G	c.(1747-1749)aTt>aGt	p.I583S	ZMYM2_ENST00000382883.3_Missense_Mutation_p.I65S|ZMYM2_ENST00000382871.2_Missense_Mutation_p.I583S|ZMYM2_ENST00000382869.3_Missense_Mutation_p.I583S	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.I583S(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTGGGAATTATTTGCCATTTT	0.318																																																	2	Substitution - Missense(2)	kidney(2)											77.0	70.0	72.0					13																	20601355		1815	4063	5878	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.1748T>G	13.37:g.20601355T>G	ENSP00000372327:p.Ile583Ser	Somatic		WXS	Illumina GAIIx	Phase_I	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	T	6.075	0.382171	0.11524	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382883	T;T;T;T	0.41400	2.36;2.36;2.36;1.0	5.45	4.23	0.50019	Zinc finger, MYM-type (1);	0.155567	0.56097	D	0.000027	T	0.20820	0.0501	N	0.08118	0	0.44073	D	0.996827	B	0.12630	0.006	B	0.16289	0.015	T	0.05257	-1.0896	10	0.09084	T	0.74	2.3519	11.6208	0.51117	0.1335:0.0:0.0:0.8665	.	583	Q9UBW7	ZMYM2_HUMAN	S	583;583;583;583;65	ENSP00000372322:I583S;ENSP00000372327:I583S;ENSP00000372324:I583S;ENSP00000372336:I65S	ENSP00000372322:I583S	I	+	2	0	ZMYM2	19499355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.200000	0.58433	0.852000	0.35287	0.528000	0.53228	ATT		0.318	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2		NM_003453	
ZNF804B	219578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	88963886	88963886	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr7:88963886T>G	ENST00000333190.4	+	4	2199	c.1590T>G	c.(1588-1590)gaT>gaG	p.D530E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	530							metal ion binding (GO:0046872)	p.D530E(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCCAAGAAGATTATCAATATC	0.363										HNSCC(36;0.09)																																							1	Substitution - Missense(1)	kidney(1)											46.0	48.0	47.0					7																	88963886		2202	4299	6501	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1590T>G	7.37:g.88963886T>G	ENSP00000329638:p.Asp530Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.953311	0.34471	.	.	ENSG00000182348	ENST00000333190	T	0.09538	2.97	5.35	1.44	0.22558	.	0.434172	0.23916	N	0.043288	T	0.07279	0.0184	L	0.38531	1.155	0.23282	N	0.997984	B	0.18461	0.028	B	0.15052	0.012	T	0.30563	-0.9974	10	0.66056	D	0.02	-8.4458	2.5641	0.04778	0.2554:0.0689:0.1346:0.541	.	530	A4D1E1	Z804B_HUMAN	E	530	ENSP00000329638:D530E	ENSP00000329638:D530E	D	+	3	2	ZNF804B	88801822	1.000000	0.71417	0.801000	0.32222	0.605000	0.37080	0.561000	0.23515	0.081000	0.16988	0.533000	0.62120	GAT		0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2		NM_181646	
ZNF83	55769	broad.mit.edu;hgsc.bcm.edu	37	19	53116221	53116221	+	3'UTR	SNP	T	T	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr19:53116221T>A	ENST00000597597.1	-	0	3850				ZNF83_ENST00000545872.1_3'UTR|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_3'UTR|ZNF83_ENST00000544146.1_3'UTR|ZNF83_ENST00000536937.1_3'UTR|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_3'UTR			P51522	ZNF83_HUMAN	zinc finger protein 83						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GTATAAATTATTGTATGTCTT	0.353																																																	0													18.0	19.0	19.0					19																	53116221		2193	4290	6483	SO:0001624	3_prime_UTR_variant	55769			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.*46A>T	19.37:g.53116221T>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MT75|Q3ZCX0|Q6PI08	RNA	SNP	ENST00000597597.1	37	CCDS12854.1																																																																																				0.353	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1		NM_018300	
