#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
ADAMTS16	170690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	5209271	5209271	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:5209271A>T	ENST00000274181.7	+	10	1655	c.1517A>T	c.(1516-1518)aAa>aTa	p.K506I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.K506I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	506	Disintegrin.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K506I(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TATCCTGAGAAATTGCCAGGA	0.448																																																	2	Substitution - Missense(2)	kidney(2)											148.0	144.0	145.0					5																	5209271		1908	4136	6044	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1517A>T	5.37:g.5209271A>T	ENSP00000274181:p.Lys506Ile	Somatic		WXS	Illumina HiSeq	Phase_I	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419835	0.62622	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.03035	4.07;4.07	5.9	5.9	0.94986	Metallopeptidase, catalytic domain (1);	0.056726	0.64402	D	0.000002	T	0.11367	0.0277	L	0.49778	1.585	0.80722	D	1	D;P;D	0.60160	0.987;0.954;0.957	P;P;P	0.59056	0.831;0.851;0.786	T	0.05068	-1.0908	10	0.36615	T	0.2	.	15.3147	0.74065	1.0:0.0:0.0:0.0	.	506;506;506	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	I	506	ENSP00000274181:K506I;ENSP00000421631:K506I	ENSP00000274181:K506I	K	+	2	0	ADAMTS16	5262271	1.000000	0.71417	0.999000	0.59377	0.180000	0.23129	8.184000	0.89702	2.251000	0.74343	0.528000	0.53228	AAA		0.448	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1		NM_139056	
ANKRD42	338699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	82905759	82905759	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:82905759C>T	ENST00000393392.2	+	1	209	c.47C>T	c.(46-48)aCt>aTt	p.T16I	ANKRD42_ENST00000528722.1_Intron|ANKRD42_ENST00000531895.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000526731.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000533342.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000393389.3_Missense_Mutation_p.T16I|RP11-727A23.5_ENST00000500634.2_RNA|ANKRD42_ENST00000260047.6_Missense_Mutation_p.T16I	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	16					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)		p.T16I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCTAGGGAGACTGCAAACCCC	0.572																																																	1	Substitution - Missense(1)	kidney(1)											125.0	108.0	114.0					11																	82905759		2203	4300	6503	SO:0001583	missense	338699			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.47C>T	11.37:g.82905759C>T	ENSP00000377051:p.Thr16Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256603	0.22965	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000393392;ENST00000533342	T;T;T;T;T;T	0.69926	-0.35;-0.41;-0.44;-0.31;-0.26;-0.33	3.46	0.371	0.16168	Ankyrin repeat-containing domain (1);	1.033460	0.07703	N	0.940834	T	0.54919	0.1888	L	0.51422	1.61	0.09310	N	1	B;B;B;B;B	0.30763	0.085;0.034;0.294;0.011;0.035	B;B;B;B;B	0.22152	0.016;0.036;0.038;0.004;0.011	T	0.36962	-0.9726	9	.	.	.	.	6.7008	0.23225	0.1935:0.4301:0.3765:0.0	.	16;16;281;107;16	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;.;ANR42_HUMAN	I	335;16;16;16;16;16;16	ENSP00000377049:T16I;ENSP00000260047:T16I;ENSP00000433585:T16I;ENSP00000434666:T16I;ENSP00000377051:T16I;ENSP00000435790:T16I	.	T	+	2	0	ANKRD42	82583407	0.072000	0.21174	0.001000	0.08648	0.008000	0.06430	0.850000	0.27737	0.086000	0.17137	-0.176000	0.13171	ACT		0.572	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1		NM_182603	
BAZ1B	9031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	72856668	72856668	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:72856668A>G	ENST00000339594.4	-	19	4648	c.4310T>C	c.(4309-4311)gTg>gCg	p.V1437A	BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1437A	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1437					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.V1437A(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAACAGAGCCACTAGACACTG	0.493																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												1	Substitution - Missense(1)	kidney(1)											144.0	129.0	134.0					7																	72856668		2203	4300	6503	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.4310T>C	7.37:g.72856668A>G	ENSP00000342434:p.Val1437Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.277203	0.40294	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.18502	2.21;2.21	5.54	5.54	0.83059	Bromodomain (3);	0.580363	0.18290	N	0.145733	T	0.10766	0.0263	N	0.19112	0.55	0.27313	N	0.957251	B	0.16603	0.018	B	0.14023	0.01	T	0.25847	-1.0120	10	0.13853	T	0.58	-6.7698	10.9337	0.47233	0.8432:0.1568:0.0:0.0	.	1437	Q9UIG0	BAZ1B_HUMAN	A	1437	ENSP00000342434:V1437A;ENSP00000385442:V1437A	ENSP00000342434:V1437A	V	-	2	0	BAZ1B	72494604	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.701000	0.54793	2.094000	0.63399	0.523000	0.50628	GTG		0.493	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4		NM_032408	
BCAN	63827	hgsc.bcm.edu;ucsc.edu	37	1	156627509	156627509	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:156627509delC	ENST00000329117.5	+	11	2588	c.2252delC	c.(2251-2253)accfs	p.T751fs	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	751	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AACGACAGGACCATCGAAGGC	0.637											OREG0013880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													96.0	77.0	84.0					1																	156627509		2203	4300	6503	SO:0001589	frameshift_variant	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2252delC	1.37:g.156627509delC	ENSP00000331210:p.Thr751fs	Somatic	1779	WXS	Illumina HiSeq	Phase_I	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Frame_Shift_Del	DEL	ENST00000329117.5	37	CCDS1149.1																																																																																				0.637	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2		NM_021948	
BID	637	broad.mit.edu;hgsc.bcm.edu	37	22	18220987	18220987	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:18220987G>C	ENST00000399774.3	-	5	541	c.372C>G	c.(370-372)aaC>aaG	p.N124K	BID_ENST00000551952.1_Missense_Mutation_p.N124K|BID_ENST00000399765.1_Missense_Mutation_p.N28K|BID_ENST00000342111.5_3'UTR|BID_ENST00000317361.7_Missense_Mutation_p.N170K|BID_ENST00000473439.1_5'UTR|BID_ENST00000399767.1_Missense_Mutation_p.N28K	NM_001196.3|NM_001244569.1	NP_001187.1|NP_001231498.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	124					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|brain development (GO:0007420)|establishment of protein localization to membrane (GO:0090150)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|intrinsic apoptotic signaling pathway (GO:0097193)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of cell proliferation (GO:0042127)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|release of cytochrome c from mitochondria (GO:0001836)|response to estradiol (GO:0032355)|signal transduction in response to DNA damage (GO:0042770)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial membrane (GO:0032592)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	death receptor binding (GO:0005123)	p.N170K(1)		large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		CCAGGTCCCTGTTCCGGTCCT	0.557																																																	1	Substitution - Missense(1)	kidney(1)											51.0	47.0	48.0					22																	18220987		2203	4300	6503	SO:0001583	missense	637			AF042083	CCDS13747.1, CCDS13748.1, CCDS13749.1	22q11.2	2014-03-07			ENSG00000015475	ENSG00000015475		"""Endogenous ligands"""	1050	protein-coding gene	gene with protein product		601997				8918887, 9721221	Standard	NM_001244567		Approved		uc002znc.2	P55957	OTTHUMG00000150087	ENST00000399774.3:c.372C>G	22.37:g.18220987G>C	ENSP00000382674:p.Asn124Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q549M7|Q71T04|Q7Z4M9|Q8IY86	Missense_Mutation	SNP	ENST00000399774.3	37	CCDS13748.1	.	.	.	.	.	.	.	.	.	.	G	8.690	0.907224	0.17833	.	.	ENSG00000015475	ENST00000317361;ENST00000399767;ENST00000399774;ENST00000399765;ENST00000551952	T;T;T;T;T	0.22336	1.96;2.05;1.96;2.05;1.96	5.31	0.153	0.14897	.	0.607966	0.16818	N	0.198278	T	0.10637	0.0260	N	0.25647	0.755	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.007	T	0.36089	-0.9762	10	0.11794	T	0.64	.	5.5063	0.16856	0.0:0.4672:0.31:0.2228	.	124;170	P55957;P55957-2	BID_HUMAN;.	K	170;28;124;28;124	ENSP00000318822:N170K;ENSP00000382669:N28K;ENSP00000382674:N124K;ENSP00000382667:N28K;ENSP00000449236:N124K	ENSP00000318822:N170K	N	-	3	2	BID	16600987	0.000000	0.05858	0.010000	0.14722	0.007000	0.05969	-1.002000	0.03686	0.235000	0.21160	-0.147000	0.13772	AAC		0.557	BID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316178.1		NM_197966	
BRCA2	675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	32910986	32910986	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:32910986G>A	ENST00000380152.3	+	11	2727	c.2494G>A	c.(2494-2496)Gag>Aag	p.E832K	BRCA2_ENST00000544455.1_Missense_Mutation_p.E832K			P51587	BRCA2_HUMAN	breast cancer 2, early onset	832	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.E832K(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAAAAACGTTGAGCTGTTGCC	0.308			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	2	Substitution - Missense(2)	kidney(2)											57.0	60.0	59.0					13																	32910986		2203	4298	6501	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2494G>A	13.37:g.32910986G>A	ENSP00000369497:p.Glu832Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	9.557	1.117532	0.20877	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.67345	-0.26;-0.26	5.58	2.78	0.32641	.	0.812302	0.11148	N	0.594480	T	0.49541	0.1563	N	0.20986	0.625	0.09310	N	1	B	0.15141	0.012	B	0.16722	0.016	T	0.33650	-0.9860	10	0.23891	T	0.37	.	8.0201	0.30404	0.164:0.3361:0.4999:0.0	.	832	P51587	BRCA2_HUMAN	K	832	ENSP00000369497:E832K;ENSP00000439902:E832K	ENSP00000369497:E832K	E	+	1	0	BRCA2	31808986	0.394000	0.25246	0.003000	0.11579	0.042000	0.13812	1.408000	0.34668	0.692000	0.31613	0.591000	0.81541	GAG		0.308	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059	
CAMLG	819	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	134079711	134079711	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:134079711C>T	ENST00000297156.2	+	3	788	c.668C>T	c.(667-669)gCg>gTg	p.A223V	CAMLG_ENST00000514518.1_Silent_p.C69C	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	223					defense response (GO:0006952)|epidermal growth factor receptor signaling pathway (GO:0007173)|receptor recycling (GO:0001881)|signal transduction (GO:0007165)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.A223V(1)		NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	TTACAACTTGCGTACATGGGA	0.269																																																	1	Substitution - Missense(1)	kidney(1)											73.0	70.0	71.0					5																	134079711		2200	4297	6497	SO:0001583	missense	819			AF068179.1	CCDS4178.1	5q23	2008-07-18			ENSG00000164615	ENSG00000164615			1471	protein-coding gene	gene with protein product	"""calcium-modulating cyclophilin ligand"", ""calcium-signal modulating cyclophilin ligand"", ""cyclophilin B-binding protein"""	601118				8824814	Standard	NM_001745		Approved	CAML	uc003kzt.3	P49069	OTTHUMG00000129116	ENST00000297156.2:c.668C>T	5.37:g.134079711C>T	ENSP00000297156:p.Ala223Val	Somatic		WXS	Illumina HiSeq	Phase_I	A1L3Y3	Missense_Mutation	SNP	ENST00000297156.2	37	CCDS4178.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270731	0.59540	.	.	ENSG00000164615	ENST00000297156	T	0.38560	1.13	5.91	5.05	0.67936	.	0.048811	0.85682	D	0.000000	T	0.41396	0.1157	L	0.35723	1.085	0.80722	D	1	D	0.55605	0.972	P	0.46718	0.525	T	0.40515	-0.9559	10	0.72032	D	0.01	-15.0551	14.9375	0.70967	0.0:0.9317:0.0:0.0683	.	223	P49069	CAMLG_HUMAN	V	223	ENSP00000297156:A223V	ENSP00000297156:A223V	A	+	2	0	CAMLG	134107610	1.000000	0.71417	0.967000	0.41034	0.994000	0.84299	5.493000	0.66899	1.509000	0.48786	0.650000	0.86243	GCG		0.269	CAMLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251161.1		NM_001745	
MICU1	10367	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	74128087	74128087	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:74128087A>G	ENST00000361114.5	-	12	1393	c.1297T>C	c.(1297-1299)Ttt>Ctt	p.F433L	MICU1_ENST00000398763.4_Missense_Mutation_p.F235L|MICU1_ENST00000398761.4_Missense_Mutation_p.F435L|MICU1_ENST00000401998.3_Missense_Mutation_p.F433L|MICU1_ENST00000418483.2_Missense_Mutation_p.F235L	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	433	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)	p.F435L(1)									ATGGAAACAAATTCCTTATTG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											94.0	89.0	90.0					10																	74128087		1947	4141	6088	SO:0001583	missense	0			Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.1297T>C	10.37:g.74128087A>G	ENSP00000354415:p.Phe433Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	A	35	5.590525	0.96590	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998;ENST00000418483;ENST00000398763	D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0	5.93	5.93	0.95920	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95890	0.8662	M	0.83223	2.63	0.80722	D	1	D;D;D	0.59357	0.983;0.983;0.985	D;D;P	0.63877	0.919;0.919;0.831	D	0.95805	0.8836	10	0.51188	T	0.08	.	16.3721	0.83368	1.0:0.0:0.0:0.0	.	235;235;433	Q9BPX6-4;Q9BPX6-5;Q9BPX6	.;.;MICU1_HUMAN	L	433;435;433;235;235	ENSP00000354415:F433L;ENSP00000381745:F435L;ENSP00000384068:F433L;ENSP00000402470:F235L;ENSP00000381747:F235L	ENSP00000354415:F433L	F	-	1	0	MICU1	73798093	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.307000	0.96226	2.257000	0.74773	0.533000	0.62120	TTT		0.473	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1		NM_006077	
CBLC	23624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45284600	45284600	+	Missense_Mutation	SNP	G	G	C	rs557856786		TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:45284600G>C	ENST00000270279.3	+	3	700	c.637G>C	c.(637-639)Gtc>Ctc	p.V213L	CBLC_ENST00000341505.4_Missense_Mutation_p.V213L	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	213	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|EF-hand-like.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V213L(1)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CGAGTTCGACGTCTTCACCAG	0.612			M		AML																																			Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	1	Substitution - Missense(1)	kidney(1)											91.0	71.0	78.0					19																	45284600		2203	4300	6503	SO:0001583	missense	23624			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.637G>C	19.37:g.45284600G>C	ENSP00000270279:p.Val213Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	ENST00000270279.3	37	CCDS12643.1	.	.	.	.	.	.	.	.	.	.	.	11.23	1.578086	0.28180	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.90504	-2.67;-2.68	3.78	-1.86	0.07760	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.835370	0.10011	N	0.727160	D	0.84211	0.5422	L	0.37697	1.125	0.36652	D	0.877464	B;B	0.21688	0.029;0.059	B;B	0.21917	0.037;0.024	T	0.73852	-0.3852	10	0.72032	D	0.01	-7.3284	8.5626	0.33520	0.5478:0.0:0.4522:0.0	.	213;213	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	L	213	ENSP00000270279:V213L;ENSP00000340250:V213L	ENSP00000270279:V213L	V	+	1	0	CBLC	49976440	1.000000	0.71417	0.993000	0.49108	0.612000	0.37316	2.506000	0.45433	-0.228000	0.09869	-0.676000	0.03789	GTC		0.612	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2		NM_012116	
COPS4	51138	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83970374	83970374	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:83970374C>A	ENST00000264389.2	+	3	345	c.210C>A	c.(208-210)tgC>tgA	p.C70*	COPS4_ENST00000511708.1_3'UTR|COPS4_ENST00000511653.1_Nonsense_Mutation_p.C70*|COPS4_ENST00000503682.1_Nonsense_Mutation_p.C70*|COPS4_ENST00000509093.1_Nonsense_Mutation_p.C70*	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	70					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)		p.C70*(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CTGATTTTTGCACACATCTTC	0.383																																																	1	Substitution - Nonsense(1)	kidney(1)											117.0	110.0	112.0					4																	83970374		2203	4300	6503	SO:0001587	stop_gained	51138			AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.210C>A	4.37:g.83970374C>A	ENSP00000264389:p.Cys70*	Somatic		WXS	Illumina HiSeq	Phase_I	B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Nonsense_Mutation	SNP	ENST00000264389.2	37	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523232	0.64747	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000503682;ENST00000511653	.	.	.	5.69	3.92	0.45320	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3895	6.9106	0.24333	0.0:0.5989:0.0:0.4011	.	.	.	.	X	70	.	ENSP00000264389:C70X	C	+	3	2	COPS4	84189398	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.418000	0.44662	0.718000	0.32166	-0.236000	0.12185	TGC		0.383	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1			
DNAJC16	23341	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	15855691	15855691	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:15855691T>C	ENST00000375847.3	+	2	255	c.91T>C	c.(91-93)Tac>Cac	p.Y31H	DNAJC16_ENST00000375838.1_Missense_Mutation_p.Y31H|DNAJC16_ENST00000375849.1_Missense_Mutation_p.Y31H|CASP9_ENST00000469637.1_5'Flank	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	31	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.Y31H(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTTTGACCCATACAGAGTCCT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											119.0	115.0	116.0					1																	15855691		2203	4300	6503	SO:0001583	missense	23341			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.91T>C	1.37:g.15855691T>C	ENSP00000365007:p.Tyr31His	Somatic		WXS	Illumina HiSeq	Phase_I	Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.519785	0.85495	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	D;D;D	0.86030	-2.06;-2.06;-2.06	5.41	5.41	0.78517	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	D	0.93294	0.7863	M	0.90252	3.1	0.32232	N	0.573867	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95158	0.8279	10	0.87932	D	0	-25.769	13.4109	0.60942	0.0:0.0:0.0:1.0	.	31;31	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	H	31	ENSP00000365007:Y31H;ENSP00000364998:Y31H;ENSP00000365009:Y31H	ENSP00000364998:Y31H	Y	+	1	0	DNAJC16	15728278	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.743000	0.74848	2.060000	0.61445	0.460000	0.39030	TAC		0.453	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1		NM_015291	
CYP4A11	1579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	47403749	47403749	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:47403749A>G	ENST00000310638.4	-	2	287	c.256T>C	c.(256-258)Tgt>Cgt	p.C86R	CYP4A11_ENST00000462347.1_Missense_Mutation_p.C86R|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.C86R|CYP4A11_ENST00000371904.4_Missense_Mutation_p.C86R	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	86					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.C86R(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CAATGAGGACAGGCACTTGGG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											226.0	178.0	194.0					1																	47403749		2203	4300	6503	SO:0001583	missense	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.256T>C	1.37:g.47403749A>G	ENSP00000311095:p.Cys86Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	.	.	.	.	.	.	.	.	.	.	-	13.38	2.219360	0.39201	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.68181	-0.31;-0.31;-0.31	5.51	0.264	0.15607	.	0.677681	0.14912	N	0.291154	T	0.61035	0.2315	L	0.48174	1.505	0.18873	N	0.999983	P	0.41102	0.738	P	0.47891	0.56	T	0.52260	-0.8599	10	0.48119	T	0.1	.	4.5053	0.11885	0.6165:0.0:0.1415:0.242	.	86	Q02928	CP4AB_HUMAN	R	86	ENSP00000311095:C86R;ENSP00000360971:C86R;ENSP00000360972:C86R	ENSP00000311095:C86R	C	-	1	0	CYP4A11	47176336	0.000000	0.05858	0.024000	0.17045	0.045000	0.14185	-0.110000	0.10824	0.039000	0.15632	-0.394000	0.06481	TGT		0.493	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1		NM_000778	
FN1	2335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	216236992	216236992	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:216236992C>A	ENST00000359671.1	-	39	6346	c.6081G>T	c.(6079-6081)ggG>ggT	p.G2027G	FN1_ENST00000345488.5_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000443816.1_Silent_p.G1937G|FN1_ENST00000432072.2_Intron|FN1_ENST00000446046.1_Silent_p.G2002G|FN1_ENST00000356005.4_Silent_p.G1937G|FN1_ENST00000346544.3_Intron|FN1_ENST00000354785.4_Silent_p.G2118G|FN1_ENST00000357009.2_Intron|FN1_ENST00000323926.6_Silent_p.G2118G|FN1_ENST00000336916.4_Silent_p.G2027G|FN1_ENST00000421182.1_Silent_p.G1912G			P02751	FINC_HUMAN	fibronectin 1	2027	Connecting strand 3 (CS-3) (V region).			G -> R (in Ref. 5; CAD97965/CAD97964). {ECO:0000305}.	acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.G2027G(1)|p.G2118G(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CAGTGTCATACCCAGGGTGGG	0.498																																																	2	Substitution - coding silent(2)	kidney(2)											91.0	82.0	85.0					2																	216236992		2203	4300	6503	SO:0001819	synonymous_variant	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6081G>T	2.37:g.216236992C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37																																																																																					0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding			NM_212476	
GAK	2580	broad.mit.edu;ucsc.edu	37	4	843678	843678	+	Splice_Site	SNP	A	A	G			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:843678A>G	ENST00000314167.4	-	27	3945		c.e27+1		GAK_ENST00000509566.1_Splice_Site|GAK_ENST00000511163.1_Splice_Site	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase						cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGCTCTGCTCACCTTGTCGGG	0.711																																																	1	Unknown(1)	kidney(1)											13.0	15.0	14.0					4																	843678		2196	4291	6487	SO:0001630	splice_region_variant	2580			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3834+1T>C	4.37:g.843678A>G		Somatic		WXS	Illumina GAIIx	Phase_I	Q5U4P5|Q9BVY6	Splice_Site	SNP	ENST00000314167.4	37	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	A	17.26	3.343469	0.61073	.	.	ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163;ENST00000511980	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1615	0.54107	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GAK	833678	1.000000	0.71417	0.998000	0.56505	0.633000	0.38033	8.983000	0.93477	1.810000	0.52873	0.523000	0.50628	.		0.711	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1		NM_005255	Intron
GAK	2580	hgsc.bcm.edu	37	4	884397	884397	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:884397T>C	ENST00000314167.4	-	10	1114	c.1004A>G	c.(1003-1005)aAt>aGt	p.N335S	GAK_ENST00000511163.1_Missense_Mutation_p.N256S	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	335					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GTAGCCTCCATTCTGCTCCAG	0.632																																																	0													31.0	35.0	34.0					4																	884397		2197	4297	6494	SO:0001583	missense	2580			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1004A>G	4.37:g.884397T>C	ENSP00000314499:p.Asn335Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.379521	0.42207	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.77489	-0.66;-1.1	3.83	3.83	0.44106	Protein kinase-like domain (1);	0.504996	0.17977	U	0.155642	T	0.81856	0.4911	M	0.61703	1.905	0.58432	D	0.999998	P;P;P;D	0.71674	0.852;0.765;0.584;0.998	B;B;B;D	0.66196	0.404;0.351;0.351;0.942	T	0.77816	-0.2447	10	0.07990	T	0.79	-23.5726	11.1976	0.48722	0.0:0.0:0.0:1.0	.	256;256;335;231	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	S	335;256	ENSP00000314499:N335S;ENSP00000421361:N256S	ENSP00000314499:N335S	N	-	2	0	GAK	874397	1.000000	0.71417	0.997000	0.53966	0.273000	0.26683	4.606000	0.61126	1.676000	0.50930	0.459000	0.35465	AAT		0.632	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1		NM_005255	
GPR126	57211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	142691426	142691426	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:142691426G>A	ENST00000230173.6	+	4	1041	c.565G>A	c.(565-567)Gca>Aca	p.A189T	GPR126_ENST00000296932.8_Missense_Mutation_p.A189T|GPR126_ENST00000367609.3_Missense_Mutation_p.A189T|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367608.2_Missense_Mutation_p.A189T	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	189	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A189T(1)|p.A188T(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CTGCTTTGAAGCAACCAAAGT	0.438																																																	2	Substitution - Missense(2)	kidney(2)											76.0	68.0	70.0					6																	142691426		1909	4145	6054	SO:0001583	missense	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.565G>A	6.37:g.142691426G>A	ENSP00000230173:p.Ala189Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495673	0.64186	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609;ENST00000541199	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;3.29	5.17	5.17	0.71159	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.096044	0.45606	D	0.000343	T	0.68686	0.3028	M	0.67953	2.075	0.34058	D	0.656946	D;D;D;D;D	0.67145	0.996;0.996;0.996;0.996;0.992	D;D;D;D;P	0.71656	0.94;0.94;0.956;0.974;0.813	T	0.71133	-0.4681	10	0.49607	T	0.09	.	18.6937	0.91593	0.0:0.0:1.0:0.0	.	189;189;189;189;188	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4;F5H2L1	.;.;.;GP126_HUMAN;.	T	189;189;189;189;188	ENSP00000230173:A189T;ENSP00000356580:A189T;ENSP00000296932:A189T;ENSP00000356581:A189T;ENSP00000446287:A188T	ENSP00000230173:A189T	A	+	1	0	GPR126	142733119	1.000000	0.71417	0.997000	0.53966	0.400000	0.30750	7.032000	0.76498	2.424000	0.82194	0.650000	0.86243	GCA		0.438	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			
ITM2B	9445	hgsc.bcm.edu	37	13	48835350	48835350	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:48835350T>G	ENST00000378565.5	+	6	994	c.791T>G	c.(790-792)aTt>aGt	p.I264S	ITM2B_ENST00000378549.5_Missense_Mutation_p.I158S	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	264					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		GAAACTTTAATTTGTTCTTGA	0.333																																																	0													49.0	53.0	52.0					13																	48835350		2203	4299	6502	SO:0001583	missense	9445			AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"""BRICHOS domain containing"""	6174	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2B"""	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.791T>G	13.37:g.48835350T>G	ENSP00000367828:p.Ile264Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q5W0A3|Q96B24|Q9NYH1	Missense_Mutation	SNP	ENST00000378565.5	37	CCDS9409.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.877636	0.72294	.	.	ENSG00000136156	ENST00000378565;ENST00000378549	T;T	0.56103	0.48;0.62	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.74030	0.3663	M	0.80332	2.49	0.58432	D	0.999996	D	0.76494	0.999	D	0.85130	0.997	T	0.78157	-0.2313	10	0.87932	D	0	-20.3349	15.1143	0.72388	0.0:0.0:0.0:1.0	.	264	Q9Y287	ITM2B_HUMAN	S	264;158	ENSP00000367828:I264S;ENSP00000367811:I158S	ENSP00000367811:I158S	I	+	2	0	ITM2B	47733351	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.374000	0.79633	2.172000	0.68678	0.533000	0.62120	ATT		0.333	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3		NM_021999	
JAKMIP2	9832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	147009293	147009293	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:147009293T>G	ENST00000265272.5	-	15	2359	c.1892A>C	c.(1891-1893)gAt>gCt	p.D631A	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D589A|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D610A	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	631						Golgi apparatus (GO:0005794)		p.D631A(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTATGAGATCAGGGATGTT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											133.0	123.0	126.0					5																	147009293		2203	4300	6503	SO:0001583	missense	9832			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1892A>C	5.37:g.147009293T>G	ENSP00000265272:p.Asp631Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.476527	0.84640	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.26373	1.74;1.75;1.76	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.75484	0.986;0.986;0.986;0.986	T	0.23833	-1.0177	10	0.09590	T	0.72	.	16.2092	0.82147	0.0:0.0:0.0:1.0	.	589;631;610;631	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	A	610;631;589;610	ENSP00000421398:D610A;ENSP00000265272:D631A;ENSP00000328989:D589A	ENSP00000265272:D631A	D	-	2	0	JAKMIP2	146989486	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.840000	0.75369	2.371000	0.80710	0.533000	0.62120	GAT		0.383	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1		NM_014790	
JKAMP	51528	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	59954452	59954452	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:59954452C>G	ENST00000261247.9	+	3	304	c.157C>G	c.(157-159)Cct>Gct	p.P53A	JKAMP_ENST00000356057.5_Missense_Mutation_p.P61A|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000556985.1_Missense_Mutation_p.P53A|JKAMP_ENST00000425728.2_Missense_Mutation_p.P47A|JKAMP_ENST00000554271.1_Missense_Mutation_p.P67A|JKAMP_ENST00000557560.1_3'UTR	NM_001098625.1|NM_001284203.1|NM_016475.3	NP_001092095.1|NP_001271132.1|NP_057559.2	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	68					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)	p.P61A(1)|p.P63A(1)		breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CACAGAATCTCCTGAACTTTA	0.373																																																	2	Substitution - Missense(2)	kidney(2)											285.0	271.0	275.0					14																	59954452		1869	4116	5985	SO:0001583	missense	51528			AF212245	CCDS45116.1, CCDS45117.1, CCDS61462.1, CCDS61463.1	14q22.3	2014-02-14	2009-08-13	2009-08-13	ENSG00000050130	ENSG00000050130			20184	protein-coding gene	gene with protein product	"""Jun N-terminal kinase 1-associated membrane protein"""	611176	"""chromosome 14 open reading frame 100"""	C14orf100		16166642, 19269966	Standard	NM_001284202		Approved	HSPC213, JAMP, HSPC327, CDA06	uc001xef.4	Q9P055	OTTHUMG00000171054	ENST00000261247.9:c.157C>G	14.37:g.59954452C>G	ENSP00000261247:p.Pro53Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B4DP67|Q6FIB6|Q6IAJ2|Q7Z5D4|Q86SY6|Q9H0Q6|Q9H2W0|Q9HAH5|Q9P0R3	Missense_Mutation	SNP	ENST00000261247.9	37	CCDS45116.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121821	0.77436	.	.	ENSG00000050130	ENST00000261247;ENST00000425728;ENST00000556985;ENST00000554271;ENST00000554795;ENST00000356057	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.79851	0.4517	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.994	T	0.77822	-0.2445	9	0.38643	T	0.18	-41.9277	19.6128	0.95616	0.0:1.0:0.0:0.0	.	67;47;61;53	G3V2M4;Q9P055-3;Q9P055-5;Q9P055-4	.;.;.;.	A	53;47;53;67;61;61	.	ENSP00000261247:P53A	P	+	1	0	JKAMP	59024205	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.644000	0.83416	2.635000	0.89317	0.655000	0.94253	CCT		0.373	JKAMP-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411430.1		NM_001098625	
JUP	3728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39919273	39919273	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:39919273T>G	ENST00000393931.3	-	8	1577	c.1459A>C	c.(1459-1461)Aag>Cag	p.K487Q	JUP_ENST00000310706.5_Missense_Mutation_p.K487Q|JUP_ENST00000393930.1_Missense_Mutation_p.K487Q|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	487					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)	p.K487Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TTGAGCAGCTTCACGATGGCT	0.607																																					Colon(16;42 520 6044 17852 28530)												1	Substitution - Missense(1)	kidney(1)											67.0	60.0	62.0					17																	39919273		2203	4300	6503	SO:0001583	missense	3728			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1459A>C	17.37:g.39919273T>G	ENSP00000377508:p.Lys487Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.668577	0.67814	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.01464	4.86;4.86;4.86	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.040858	0.85682	D	0.000000	T	0.07954	0.0199	M	0.74647	2.275	0.80722	D	1	P	0.52170	0.951	P	0.56960	0.81	T	0.00945	-1.1505	10	0.87932	D	0	-46.2343	14.3357	0.66589	0.0:0.0:0.0:1.0	.	487	P14923	PLAK_HUMAN	Q	487	ENSP00000377507:K487Q;ENSP00000311113:K487Q;ENSP00000377508:K487Q	ENSP00000311113:K487Q	K	-	1	0	JUP	37172799	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	7.714000	0.84703	2.165000	0.68154	0.459000	0.35465	AAG		0.607	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			
KMT2D	8085	broad.mit.edu;ucsc.edu	37	12	49447312	49447313	+	Missense_Mutation	DNP	GG	GG	AT	rs368315432		TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	G	G	.|G	.|T	.|G	.|G	Unknown	Untested|Valid	Somatic	Phase_I	WXS	none|Illumina Miseq;PacBio			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:49447312_49447313GG>AT	ENST00000301067.7	-	6	784_785	c.785_786CC>AT	c.(784-786)gCC>gAT	p.A262D		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	262	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A262D(4)|p.A262A(2)|p.L260fs*8(1)									CACGTTTGCGGGCAGTCAGAGC	0.574																																																	7	Substitution - Missense(4)|Substitution - coding silent(2)|Deletion - Frameshift(1)	kidney(6)|haematopoietic_and_lymphoid_tissue(1)																																								SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.785_786delinsAT	12.37:g.49447312_49447313delinsAT	ENSP00000301067:p.Ala262Asp	Somatic		WXS	Illumina GAIIx	Phase_I	O14687	Silent|Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.574	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			
NFIB	4781	hgsc.bcm.edu;ucsc.edu	37	9	14307384	14307385	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:14307384_14307385delCT	ENST00000380959.3	-	2	638_639	c.165_166delAG	c.(163-168)agagcafs	p.RA55fs	NFIB_ENST00000397581.2_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000380921.3_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000397575.3_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000397579.2_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000380934.4_Frame_Shift_Del_p.RA81fs|NFIB_ENST00000380953.1_Frame_Shift_Del_p.RA55fs	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	55					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TCTTTGACTGCTCTTTCTTCAT	0.455			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)			Dom	yes		9	9p24.1	4781	nuclear factor I/B		E	0																																										SO:0001589	frameshift_variant	4781			U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.165_166delAG	9.37:g.14307386_14307387delCT	ENSP00000370346:p.Arg55fs	Somatic		WXS	Illumina HiSeq	Phase_I	G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Frame_Shift_Del	DEL	ENST00000380959.3	37	CCDS6474.1																																																																																				0.455	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1		NM_005596	
PCDHGC5	56097	broad.mit.edu;ucsc.edu	37	5	140869551	140869551	+	Silent	SNP	T	T	A			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:140869551T>A	ENST00000252087.1	+	1	744	c.744T>A	c.(742-744)cgT>cgA	p.R248R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	248	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R248R(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCTACGTGTGGGAATCC	0.542																																																	2	Substitution - coding silent(2)	kidney(2)											174.0	177.0	176.0					5																	140869551		2203	4300	6503	SO:0001819	synonymous_variant	56097			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.744T>A	5.37:g.140869551T>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q9Y5C2	Silent	SNP	ENST00000252087.1	37	CCDS4263.1																																																																																				0.542	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1		NM_018929	
PSMD6	9861	broad.mit.edu;hgsc.bcm.edu	37	3	64007994	64007994	+	Splice_Site	SNP	T	T	G			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:64007994T>G	ENST00000295901.4	-	2	491	c.351A>C	c.(349-351)aaA>aaC	p.K117N	RP11-245J9.6_ENST00000605919.1_RNA|PSMD6_ENST00000394431.2_Splice_Site_p.K79N|PSMD6_ENST00000482510.1_Splice_Site_p.K78N|PSMD6_ENST00000492933.1_Splice_Site_p.K170N	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)	p.K117N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		CTCTACTCACTTTGTCACCTA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											109.0	107.0	108.0					3																	64007994		2203	4300	6503	SO:0001630	splice_region_variant	9861			AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.351+1A>C	3.37:g.64007994T>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	ENST00000295901.4	37	CCDS2901.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.781606	0.90282	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510;ENST00000497323;ENST00000478185	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.19	4.31	0.51392	.	0.086995	0.85682	D	0.000000	D	0.89157	0.6635	H	0.94734	3.575	0.80722	D	1	D;D;D;P	0.63880	0.993;0.962;0.988;0.951	D;P;D;D	0.76071	0.987;0.908;0.974;0.955	D	0.91680	0.5357	9	.	.	.	.	13.0829	0.59123	0.0:0.9215:0.0:0.0785	.	79;78;170;117	Q6UV22;E9PHI9;C9IZE4;Q15008	.;.;.;PSMD6_HUMAN	N	117;170;79;78;131;138	ENSP00000295901:K117N;ENSP00000418695:K170N;ENSP00000377952:K79N;ENSP00000419227:K78N;ENSP00000418887:K131N	.	K	-	3	2	PSMD6	63983034	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.855000	0.69510	1.399000	0.46721	-0.242000	0.12053	AAA		0.423	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1		NM_014814	Missense_Mutation
PTPN13	5783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	87653571	87653571	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:87653571T>C	ENST00000411767.2	+	11	1690	c.1627T>C	c.(1627-1629)Ttt>Ctt	p.F543L	PTPN13_ENST00000316707.6_Missense_Mutation_p.F543L|PTPN13_ENST00000436978.1_Missense_Mutation_p.F543L|PTPN13_ENST00000427191.2_Missense_Mutation_p.F543L|PTPN13_ENST00000511467.1_Missense_Mutation_p.F543L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	543					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.F543L(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TGGCCCTGAGTTTGTGAAAAT	0.279																																																	1	Substitution - Missense(1)	kidney(1)											67.0	60.0	62.0					4																	87653571		1799	4067	5866	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1627T>C	4.37:g.87653571T>C	ENSP00000407249:p.Phe543Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	T	31	5.081804	0.94050	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	D;D;T;D;D	0.82526	-1.6;-1.58;-1.29;-1.62;-1.58	5.46	5.46	0.80206	.	0.000000	0.49916	D	0.000123	D	0.90342	0.6978	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.997;0.999	D	0.91487	0.5209	10	0.87932	D	0	.	15.5285	0.75932	0.0:0.0:0.0:1.0	.	543;543;543;543	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	L	543;543;543;543;543;511	ENSP00000408368:F543L;ENSP00000394794:F543L;ENSP00000322675:F543L;ENSP00000407249:F543L;ENSP00000426626:F543L	ENSP00000322675:F543L	F	+	1	0	PTPN13	87872595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.981000	0.88123	2.059000	0.61396	0.455000	0.32223	TTT		0.279	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			
RTN4	57142	broad.mit.edu;ucsc.edu	37	2	55253832	55253832	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:55253832T>G	ENST00000337526.6	-	3	1646	c.1403A>C	c.(1402-1404)aAc>aCc	p.N468T	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.N262T|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.N262T|RTN4_ENST00000357376.3_Missense_Mutation_p.N262T|RTN4_ENST00000404909.1_Missense_Mutation_p.N262T|RTN4_ENST00000354474.6_Missense_Mutation_p.N236T|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	468					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.N262T(1)|p.N468T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TGCTGCTGGGTTAAAGGGAGC	0.378																																																	2	Substitution - Missense(2)	kidney(2)											152.0	142.0	145.0					2																	55253832		2203	4300	6503	SO:0001583	missense	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1403A>C	2.37:g.55253832T>G	ENSP00000337838:p.Asn468Thr	Somatic		WXS	Illumina GAIIx	Phase_I	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	T	7.278	0.608553	0.14002	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.17528	2.27;2.27;2.4;2.27;2.27;2.27	6.06	-3.71	0.04424	.	0.896264	0.09813	N	0.752522	T	0.09379	0.0231	L	0.31294	0.92	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.39313	-0.9620	10	0.19147	T	0.46	-0.049	6.0788	0.19931	0.0:0.3465:0.2497:0.4038	.	468	Q9NQC3	RTN4_HUMAN	T	262;262;468;262;262;236	ENSP00000384471:N262T;ENSP00000349944:N262T;ENSP00000337838:N468T;ENSP00000378109:N262T;ENSP00000385650:N262T;ENSP00000346465:N236T	ENSP00000337838:N468T	N	-	2	0	RTN4	55107336	0.962000	0.33011	0.009000	0.14445	0.749000	0.42624	0.050000	0.14120	-0.909000	0.03852	0.528000	0.53228	AAC		0.378	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			
SGCA	6442	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48252717	48252717	+	Silent	SNP	C	C	G			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:48252717C>G	ENST00000262018.3	+	9	1119	c.1083C>G	c.(1081-1083)ccC>ccG	p.P361P	HILS1_ENST00000504307.1_RNA|SGCA_ENST00000543315.1_Silent_p.P237P|SGCA_ENST00000344627.6_Silent_p.P237P|SGCA_ENST00000513942.1_3'UTR	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	361					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)	p.P361P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CCACCCTGCCCATGTTCAATG	0.662																																																	1	Substitution - coding silent(1)	kidney(1)											32.0	31.0	31.0					17																	48252717		2202	4298	6500	SO:0001819	synonymous_variant	6442			L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.1083C>G	17.37:g.48252717C>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NEB8|A8K3K7|Q13710|Q13712	Silent	SNP	ENST00000262018.3	37	CCDS32679.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807456	0.50421	.	.	ENSG00000108823	ENST00000504073	.	.	.	4.63	0.252	0.15545	.	.	.	.	.	T	0.57125	0.2032	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51482	-0.8700	4	.	.	.	-25.9502	9.6502	0.39892	0.0:0.6734:0.0:0.3266	.	.	.	.	D	134	.	.	H	+	1	0	SGCA	45607716	0.799000	0.28903	1.000000	0.80357	0.929000	0.56500	-0.069000	0.11542	0.145000	0.18977	0.462000	0.41574	CAT		0.662	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1		NM_000023	
SIK2	23235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111591712	111591712	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:111591712A>C	ENST00000304987.3	+	12	2043	c.1870A>C	c.(1870-1872)Ata>Cta	p.I624L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	624					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.I624L(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GTATGAACAAATAGGACCGGA	0.507																																																	1	Substitution - Missense(1)	kidney(1)											93.0	96.0	95.0					11																	111591712		2201	4297	6498	SO:0001583	missense	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1870A>C	11.37:g.111591712A>C	ENSP00000305976:p.Ile624Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.517812	0.44763	.	.	ENSG00000170145	ENST00000304987	T	0.69806	-0.43	6.17	0.889	0.19212	.	0.198851	0.64402	N	0.000011	T	0.46229	0.1382	N	0.19112	0.55	0.23089	N	0.998318	B	0.02656	0.0	B	0.01281	0.0	T	0.29305	-1.0016	10	0.32370	T	0.25	.	9.5189	0.39122	0.5355:0.3521:0.0:0.1124	.	624	Q9H0K1	SIK2_HUMAN	L	624	ENSP00000305976:I624L	ENSP00000305976:I624L	I	+	1	0	SIK2	111096922	0.987000	0.35691	0.002000	0.10522	0.502000	0.33828	2.615000	0.46368	0.163000	0.19507	0.533000	0.62120	ATA		0.507	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3		NM_015191	
SIPA1L2	57568	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	232650730	232650730	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:232650730C>G	ENST00000366630.1	-	2	714	c.356G>C	c.(355-357)aGt>aCt	p.S119T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S119T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	119					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.S119T(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACTCTGGTCACTCTGCCCATT	0.502																																																	1	Substitution - Missense(1)	kidney(1)											150.0	146.0	147.0					1																	232650730		2049	4219	6268	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.356G>C	1.37:g.232650730C>G	ENSP00000355589:p.Ser119Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	0.463	-0.888248	0.02511	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.78816	-1.21;-1.21	5.19	0.389	0.16269	.	0.475434	0.23684	N	0.045600	T	0.58991	0.2161	N	0.22421	0.69	0.09310	N	0.999999	B	0.14012	0.009	B	0.17098	0.017	T	0.40136	-0.9579	10	0.18710	T	0.47	-18.0713	8.5864	0.33660	0.0:0.3069:0.0:0.6931	.	119	Q9P2F8	SI1L2_HUMAN	T	119	ENSP00000355589:S119T;ENSP00000262861:S119T	ENSP00000262861:S119T	S	-	2	0	SIPA1L2	230717353	0.019000	0.18553	0.021000	0.16686	0.866000	0.49608	0.163000	0.16520	-0.086000	0.12550	-0.312000	0.09012	AGT		0.502	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1		XM_045839	
SLC9A9	285195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	143297454	143297454	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:143297454C>A	ENST00000316549.6	-	7	1075	c.867G>T	c.(865-867)ggG>ggT	p.G289G		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	289					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.G289G(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CATACGCAGACCCCATTGCAA	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											111.0	105.0	107.0					3																	143297454		2203	4300	6503	SO:0001819	synonymous_variant	285195			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.867G>T	3.37:g.143297454C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	CCDS33872.1																																																																																				0.458	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1		NM_173653	
VAPB	9217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	57015985	57015985	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:57015985T>C	ENST00000475243.1	+	5	757	c.419T>C	c.(418-420)aTt>aCt	p.I140T	VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Intron	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	140					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)	p.I140T(1)		kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			ATAAATAAAATTATATCCACA	0.338																																																	1	Substitution - Missense(1)	kidney(1)											33.0	34.0	34.0					20																	57015985		2203	4300	6503	SO:0001583	missense	9217			AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.419T>C	20.37:g.57015985T>C	ENSP00000417175:p.Ile140Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2F2|O95293|Q9P0H0	Missense_Mutation	SNP	ENST00000475243.1	37	CCDS33498.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.879388	0.33162	.	.	ENSG00000124164	ENST00000475243	T	0.28454	1.61	5.66	5.66	0.87406	.	0.212230	0.48767	D	0.000168	T	0.31638	0.0803	L	0.60455	1.87	0.80722	D	1	P;B	0.39480	0.675;0.011	B;B	0.39258	0.295;0.005	T	0.07520	-1.0768	10	0.13108	T	0.6	-13.7154	15.9043	0.79412	0.0:0.0:0.0:1.0	.	17;140	B4DNS4;O95292	.;VAPB_HUMAN	T	140	ENSP00000417175:I140T	ENSP00000417175:I140T	I	+	2	0	VAPB	56449391	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.408000	0.80041	2.160000	0.67779	0.528000	0.53228	ATT		0.338	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079875.2			
ZAN	7455	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100361427	100361427	+	RNA	SNP	A	A	G			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:100361427A>G	ENST00000348028.3	+	0	4151				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGTCTCTTGCAGGTGTCAGAA	0.587																																																	2	Unknown(2)	kidney(2)											113.0	109.0	111.0					7																	100361427		1971	4174	6145			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100361427A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Splice_Site	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	A	19.03	3.747498	0.69533	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4288	0.44395	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZAN	100199363	0.995000	0.38212	0.895000	0.35142	0.526000	0.34562	4.430000	0.59907	1.893000	0.54813	0.454000	0.30748	.		0.587	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1		NM_003386	
ZNF292	23036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	87966445	87966445	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:87966445T>A	ENST00000369577.3	+	8	3141	c.3098T>A	c.(3097-3099)gTg>gAg	p.V1033E	ZNF292_ENST00000339907.4_Missense_Mutation_p.V1028E	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1033						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.V1033E(1)|p.V888E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACCTTTTCTGTGCAAAATCAG	0.323																																																	2	Substitution - Missense(2)	kidney(2)											57.0	55.0	56.0					6																	87966445		1846	4085	5931	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3098T>A	6.37:g.87966445T>A	ENSP00000358590:p.Val1033Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.425483	0.43020	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08102	3.13;3.14	5.55	5.55	0.83447	.	0.727297	0.12908	N	0.429186	T	0.03178	0.0093	L	0.29908	0.895	0.27667	N	0.946898	B	0.27068	0.167	B	0.31016	0.123	T	0.36359	-0.9751	10	0.66056	D	0.02	.	10.0915	0.42449	0.0:0.075:0.0:0.925	.	1033	O60281	ZN292_HUMAN	E	1033;1028	ENSP00000358590:V1033E;ENSP00000342847:V1028E	ENSP00000342847:V1028E	V	+	2	0	ZNF292	88023164	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.282000	0.51693	2.111000	0.64477	0.482000	0.46254	GTG		0.323	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2		NM_015021	
ZNF324B	388569	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58967919	58967919	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:58967919C>A	ENST00000336614.4	+	4	1715	c.1608C>A	c.(1606-1608)agC>agA	p.S536R	ZNF324B_ENST00000545523.1_Missense_Mutation_p.S536R|ZNF324B_ENST00000391696.1_Missense_Mutation_p.S526R	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S536R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GGAAGCCAAGCCCAGTCCTGA	0.607																																																	1	Substitution - Missense(1)	kidney(1)											40.0	49.0	46.0					19																	58967919		2200	4297	6497	SO:0001583	missense	388569			AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1608C>A	19.37:g.58967919C>A	ENSP00000337473:p.Ser536Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	C	9.299	1.052633	0.19907	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.07216	3.41;3.41;3.21	2.5	1.41	0.22369	.	1.343560	0.05538	N	0.565189	T	0.06371	0.0164	N	0.19112	0.55	0.09310	N	1	B;B	0.33073	0.0;0.396	B;B	0.26310	0.0;0.068	T	0.40251	-0.9573	10	0.87932	D	0	.	8.6341	0.33936	0.0:0.6215:0.3785:0.0	.	536;526	Q6AW86;C9JTQ8	Z324B_HUMAN;.	R	536;536;526	ENSP00000337473:S536R;ENSP00000438930:S536R;ENSP00000375578:S526R	ENSP00000337473:S536R	S	+	3	2	ZNF324B	63659731	0.003000	0.15002	0.001000	0.08648	0.005000	0.04900	-0.298000	0.08265	0.560000	0.29169	0.467000	0.42956	AGC		0.607	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1		NM_207395	
MICU2	221154	broad.mit.edu	37	13	22067484	22067484	+	Silent	SNP	T	T	C			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:22067484T>C	ENST00000382374.4	-	12	1274	c.1209A>G	c.(1207-1209)caA>caG	p.Q403Q	MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	403					mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)	p.Q403Q(1)									TACTCTGATGTTGTGGTACCT	0.333																																																	1	Substitution - coding silent(1)	kidney(1)											153.0	144.0	147.0					13																	22067484		2202	4297	6499	SO:0001819	synonymous_variant	221154			AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.1209A>G	13.37:g.22067484T>C		Somatic		WXS	Illumina GAIIx	Phase_I	Q8N0T6|Q8NAX8	Silent	SNP	ENST00000382374.4	37	CCDS9297.1																																																																																				0.333	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1		NM_152726	
EN1	2019	broad.mit.edu	37	2	119604102	119604103	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	CG	CG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:119604102_119604103delCG	ENST00000295206.6	-	1	1151_1152	c.641_642delCG	c.(640-642)gcgfs	p.A218fs	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	218	Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A204_A215del(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						ctgctgcggccgccgccgccgc	0.807																																																	1	Deletion - In frame(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	2019			L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.641_642delCG	2.37:g.119604102_119604103delCG	ENSP00000295206:p.Ala218fs	Somatic		WXS	Illumina GAIIx	Phase_I	Q4ZG44	Frame_Shift_Del	DEL	ENST00000295206.6	37	CCDS2123.1																																																																																				0.807	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3			
FAM150B	285016	broad.mit.edu	37	2	283140	283140	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:283140C>A	ENST00000403610.4	-	5	764	c.424G>T	c.(424-426)Gct>Tct	p.A142S	FAM150B_ENST00000344414.5_Missense_Mutation_p.A50S|FAM150B_ENST00000405290.1_Missense_Mutation_p.A50S|FAM150B_ENST00000401503.1_Missense_Mutation_p.A50S	NM_001002919.2	NP_001002919.2	Q6UX46	F150B_HUMAN	family with sequence similarity 150, member B	142						extracellular region (GO:0005576)		p.A142S(2)		breast(1)|kidney(2)	3	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.00091)|Epithelial(75;0.00656)|OV - Ovarian serous cystadenocarcinoma(76;0.00954)|GBM - Glioblastoma multiforme(21;0.128)		GGACTGACAGCCAGCCGGGTA	0.428																																																	2	Substitution - Missense(2)	kidney(2)											55.0	56.0	56.0					2																	283140		1879	4112	5991	SO:0001583	missense	285016				CCDS46218.1	2p25.3	2008-05-02			ENSG00000189292	ENSG00000189292			27683	protein-coding gene	gene with protein product							Standard	NM_001002919		Approved		uc002qwi.4	Q6UX46	OTTHUMG00000151366	ENST00000403610.4:c.424G>T	2.37:g.283140C>A	ENSP00000384604:p.Ala142Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B5MC76	Missense_Mutation	SNP	ENST00000403610.4	37	CCDS46218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.368083|4.368083	0.82463|0.82463	.|.	.|.	ENSG00000189292|ENSG00000189292	ENST00000436353;ENST00000403610;ENST00000401503;ENST00000405290;ENST00000344414;ENST00000452023|ENST00000401489	.|.	.|.	.|.	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71753|0.71753	0.3377|0.3377	M|M	0.69823|0.69823	2.125|2.125	0.53688|0.53688	D|D	0.999979|0.999979	D|.	0.76494|.	0.999|.	D|.	0.83275|.	0.996|.	T|T	0.71774|0.71774	-0.4491|-0.4491	9|5	0.87932|.	D|.	0|.	.|.	12.9885|12.9885	0.58606|0.58606	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	142|.	Q6UX46|.	F150B_HUMAN|.	S|C	82;142;50;50;50;142|92	.|.	ENSP00000339565:A50S|.	A|W	-|-	1|3	0|0	FAM150B|FAM150B	273140|273140	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.701000|0.701000	0.40568|0.40568	6.537000|6.537000	0.73847|0.73847	2.447000|2.447000	0.82792|0.82792	0.655000|0.655000	0.94253|0.94253	GCT|TGG		0.428	FAM150B-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322394.2		NM_001002919	
GSPT1	2935	broad.mit.edu	37	16	11984971	11984971	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:11984971delT	ENST00000563468.1	-	4	336	c.310delA	c.(310-312)aggfs	p.R104fs	GSPT1_ENST00000434724.2_Frame_Shift_Del_p.R242fs|GSPT1_ENST00000439887.2_Frame_Shift_Del_p.R241fs|GSPT1_ENST00000420576.2_Frame_Shift_Del_p.R104fs|RP11-166B2.8_ENST00000574364.1_RNA			P15170	ERF3A_HUMAN	G1 to S phase transition 1	104	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TCAAGCGTCCTTTTGTCAACC	0.294																																																	0													97.0	83.0	87.0					16																	11984971		1755	3949	5704	SO:0001589	frameshift_variant	2935			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.310delA	16.37:g.11984971delT	ENSP00000454351:p.Arg104fs	Somatic		WXS	Illumina GAIIx	Phase_I	J3KQG6|Q96GF2	Frame_Shift_Del	DEL	ENST00000563468.1	37	CCDS45414.1																																																																																				0.294	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1		NM_002094	
L1CAM	3897	broad.mit.edu	37	X	153135050	153135050	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:153135050C>T	ENST00000370060.1	-	11	1381	c.1192G>A	c.(1192-1194)Gac>Aac	p.D398N	L1CAM_ENST00000361699.4_Missense_Mutation_p.D398N|L1CAM_ENST00000361981.3_Missense_Mutation_p.D393N|L1CAM_ENST00000543994.1_Missense_Mutation_p.D400N|L1CAM_ENST00000370055.1_Missense_Mutation_p.D393N|L1CAM_ENST00000370057.3_Missense_Mutation_p.D398N|L1CAM_ENST00000538883.1_Missense_Mutation_p.D400N	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	398	Ig-like C2-type 4.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.D398N(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCATTGTGTCACTGGGCTGC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											107.0	84.0	92.0					X																	153135050		2203	4299	6502	SO:0001583	missense	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1192G>A	X.37:g.153135050C>T	ENSP00000359077:p.Asp398Asn	Somatic		WXS	Illumina GAIIx	Phase_I	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580746	0.86748	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.6	4.73	0.59995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.079168	0.50627	D	0.000101	D	0.90198	0.6936	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.998	D;D;D	0.85130	0.929;0.997;0.943	D	0.91243	0.5023	10	0.66056	D	0.02	.	14.4447	0.67342	0.0:0.8552:0.1448:0.0	.	393;398;398	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	N	398;400;398;400;393;393;398	ENSP00000359077:D398N;ENSP00000438430:D400N;ENSP00000359074:D398N;ENSP00000439645:D400N;ENSP00000354712:D393N;ENSP00000359072:D393N;ENSP00000355380:D398N	ENSP00000355380:D398N	D	-	1	0	L1CAM	152788244	0.559000	0.26562	0.701000	0.30321	0.943000	0.58893	1.135000	0.31454	1.116000	0.41820	0.483000	0.47432	GAC		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2		NM_024003	
MYO10	4651	broad.mit.edu	37	5	16671643	16671643	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:16671643G>C	ENST00000513610.1	-	38	5772	c.5318C>G	c.(5317-5319)gCc>gGc	p.A1773G	MYO10_ENST00000274203.9_Missense_Mutation_p.A1130G|MYO10_ENST00000505695.1_Missense_Mutation_p.A1112G|MYO10_ENST00000515803.1_Missense_Mutation_p.A1112G|MYO10_ENST00000427430.2_Missense_Mutation_p.A1130G	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1773	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.A1773G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTCGGATGTGGCAGCCAGCCT	0.498																																																	1	Substitution - Missense(1)	kidney(1)											49.0	51.0	51.0					5																	16671643		1902	4126	6028	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5318C>G	5.37:g.16671643G>C	ENSP00000421280:p.Ala1773Gly	Somatic		WXS	Illumina GAIIx	Phase_I	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	8.805	0.933917	0.18206	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.87729	-2.22;-2.29;-2.21;-2.29;-2.21	5.73	4.84	0.62591	Band 4.1 domain (1);FERM domain (1);	.	.	.	.	T	0.70020	0.3176	N	0.02876	-0.465	0.39821	D	0.97283	B;B;B	0.11235	0.002;0.0;0.004	B;B;B	0.08055	0.001;0.001;0.003	T	0.65800	-0.6080	9	0.20519	T	0.43	.	11.8723	0.52527	0.137:0.0:0.863:0.0	.	652;1413;1773	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	G	1773;1112;1130;1112;1130	ENSP00000421280:A1773G;ENSP00000425051:A1112G;ENSP00000274203:A1130G;ENSP00000421170:A1112G;ENSP00000391106:A1130G	ENSP00000274203:A1130G	A	-	2	0	MYO10	16724643	1.000000	0.71417	0.992000	0.48379	0.622000	0.37654	1.509000	0.35780	2.861000	0.98227	0.655000	0.94253	GCC		0.498	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1		NM_012334	
ZNF534	147658	broad.mit.edu	37	19	52942423	52942423	+	Missense_Mutation	SNP	T	T	A	rs112113280	byFrequency	TCGA-A3-3365-01A-01D-0966-08	TCGA-A3-3365-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5062d743-a97a-4586-9567-19eeae9aceca	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:52942423T>A	ENST00000332323.6	+	4	1810	c.1749T>A	c.(1747-1749)aaT>aaA	p.N583K	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.N570K	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	583					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)	p.N583K(2)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GACATAGGAATATTCATACTG	0.438													T|||	4	0.000798722	0.0	0.0	5008	,	,		21602	0.0		0.004	False		,,,				2504	0.0																2	Substitution - Missense(2)	prostate(1)|kidney(1)											71.0	68.0	69.0					19																	52942423		692	1591	2283	SO:0001583	missense	147658			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1749T>A	19.37:g.52942423T>A	ENSP00000327538:p.Asn583Lys	Somatic		WXS	Illumina GAIIx	Phase_I	Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	T	7.949	0.744393	0.15710	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.12569	2.67;2.67	1.73	-3.46	0.04767	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02848	0.0085	N	0.00507	-1.42	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.09377	0.001;0.004	T	0.36939	-0.9727	9	0.42905	T	0.14	.	2.4785	0.04581	0.3558:0.0:0.2693:0.3748	.	570;583	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	K	583;570;582	ENSP00000327538:N583K;ENSP00000391358:N570K	ENSP00000327538:N583K	N	+	3	2	ZNF534	57634235	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.588000	0.00422	-1.795000	0.01255	-0.898000	0.02899	AAT		0.438	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1		NM_182512	
