#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_EVS_AA	i_EVS_All	i_EVS_EA	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCC4	10257	genome.wustl.edu	37	13	95696580	95696580	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr13:95696580G>T	ENST00000376887.4	-	28	3683	c.3569C>A	c.(3568-3570)gCa>gAa	p.A1190E	ABCC4_ENST00000412704.1_Missense_Mutation_p.A1143E	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1190	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CCTGAGAATTGCCCTGGCAAG	0.403																																						dbGAP											0													81.0	75.0	77.0					13																	95696580		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3569C>A	13.37:g.95696580G>T	ENSP00000366084:p.Ala1190Glu		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	p.A1190E	ENST00000376887.4	37	c.3569	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789026	0.90367	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.93604	-3.25;-3.25	5.67	5.67	0.87782	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96956	0.9006	M	0.91561	3.22	0.80722	D	1	P;P	0.44195	0.817;0.828	P;P	0.54026	0.74;0.654	D	0.97355	0.9966	10	0.87932	D	0	.	19.7775	0.96400	0.0:0.0:1.0:0.0	.	1143;1190	O15439-2;O15439	.;MRP4_HUMAN	E	1143;1190	ENSP00000388657:A1143E;ENSP00000366084:A1190E	ENSP00000366084:A1190E	A	-	2	0	ABCC4	94494581	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	9.476000	0.97823	2.680000	0.91292	0.655000	0.94253	GCA	ABCC4	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000125257		0.403	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	90	0.00	0	G	NM_005845		95696580	95696580	-1	no_errors	ENST00000376887	ensembl	human	known	69_37n	missense	206	12.29	29	SNP	1.000	T
ADAMTS18	170692	genome.wustl.edu	37	16	77353947	77353947	+	Silent	SNP	G	G	A			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr16:77353947G>A	ENST00000282849.5	-	16	2749	c.2331C>T	c.(2329-2331)atC>atT	p.I777I		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	777	Spacer.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCTGGATTTCGATGCTTCGGG	0.522																																						dbGAP											0													56.0	60.0	59.0					16																	77353947		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2331C>T	16.37:g.77353947G>A			Q6P4R5|Q6ZWJ9	Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.I777	ENST00000282849.5	37	c.2331	CCDS10926.1	16																																																																																			ADAMTS18	-	pfam_ADAM_spacer1	ENSG00000140873		0.522	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	22	0.00	0	G			77353947	77353947	-1	no_errors	ENST00000282849	ensembl	human	known	69_37n	silent	39	22.00	11	SNP	0.842	A
ANKRD6	22881	genome.wustl.edu	37	6	90276715	90276715	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr6:90276715T>C	ENST00000522441.1	+	2	661	c.20T>C	c.(19-21)gTc>gCc	p.V7A	ANKRD6_ENST00000369408.5_Missense_Mutation_p.V7A|ANKRD6_ENST00000520886.2_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.V7A|RP11-16C18.3_ENST00000438267.1_RNA|ANKRD6_ENST00000520793.1_Missense_Mutation_p.V7A|RP11-16C18.3_ENST00000425588.1_RNA|ANKRD6_ENST00000339746.4_Missense_Mutation_p.V7A|ANKRD6_ENST00000485637.1_Missense_Mutation_p.V7A	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	7					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CAAGATGCGGTCGCTGCACTT	0.537																																						dbGAP											0													52.0	51.0	52.0					6																	90276715		1969	4153	6122	-	-	-	SO:0001583	missense	0			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.20T>C	6.37:g.90276715T>C	ENSP00000430985:p.Val7Ala		B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V7A	ENST00000522441.1	37	c.20	CCDS56441.1	6	.	.	.	.	.	.	.	.	.	.	T	15.00	2.703306	0.48412	.	.	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000520458;ENST00000465722;ENST00000523798;ENST00000522441;ENST00000522779;ENST00000485637;ENST00000522705;ENST00000518150;ENST00000520793	T;T;T;T;T;T;T;T;T;T	0.66815	1.13;1.03;1.02;0.5;-0.17;0.85;1.03;-0.2;1.13;-0.23	5.89	4.72	0.59763	.	0.000000	0.48767	D	0.000179	T	0.63331	0.2502	L	0.50333	1.59	0.39011	D	0.959551	D;B;B;B	0.54964	0.969;0.012;0.02;0.146	D;B;B;B	0.64877	0.93;0.027;0.061;0.098	T	0.66492	-0.5910	10	0.44086	T	0.13	-21.4817	7.7463	0.28871	0.0:0.0691:0.141:0.79	.	7;7;7;7	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	A	7	ENSP00000358416:V7A;ENSP00000345767:V7A;ENSP00000396771:V7A;ENSP00000431061:V7A;ENSP00000429431:V7A;ENSP00000428377:V7A;ENSP00000430985:V7A;ENSP00000430954:V7A;ENSP00000428309:V7A;ENSP00000429782:V7A	ENSP00000345767:V7A	V	+	2	0	ANKRD6	90333434	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.898000	0.69838	1.035000	0.39972	-0.316000	0.08728	GTC	ANKRD6	-	NULL	ENSG00000135299		0.537	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANKRD6	HGNC	protein_coding	OTTHUMT00000376594.1	61	0.00	0	T			90276715	90276715	+1	no_errors	ENST00000339746	ensembl	human	known	69_37n	missense	116	27.95	45	SNP	1.000	C
ARRDC2	27106	genome.wustl.edu	37	19	18119536	18119536	+	Silent	SNP	G	G	A			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr19:18119536G>A	ENST00000222250.4	+	2	434	c.291G>A	c.(289-291)acG>acA	p.T97T	ARRDC2_ENST00000379656.3_Silent_p.T92T|ARRDC2_ENST00000608009.1_3'UTR	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	97					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GGGAGACCACGACGCTGCCTC	0.652																																						dbGAP											0													68.0	70.0	70.0					19																	18119536		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.291G>A	19.37:g.18119536G>A			B2RBG9|O95895|Q6ZRV9|Q8WYG6	Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.T97	ENST00000222250.4	37	c.291	CCDS12370.1	19																																																																																			ARRDC2	-	pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000105643		0.652	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC2	HGNC	protein_coding	OTTHUMT00000466845.1	26	0.00	0	G	NM_015683		18119536	18119536	+1	no_errors	ENST00000222250	ensembl	human	known	69_37n	silent	38	22.45	11	SNP	0.319	A
BSND	7809	genome.wustl.edu	37	1	55474123	55474123	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr1:55474123C>T	ENST00000371265.4	+	4	1039	c.785C>T	c.(784-786)gCc>gTc	p.A262V		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	262					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						TGGGAAATAGCCCTGCCCAAC	0.602																																					Ovarian(191;1657 2078 22894 42033 48899)	dbGAP											0													60.0	60.0	60.0					1																	55474123		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.785C>T	1.37:g.55474123C>T	ENSP00000360312:p.Ala262Val		Q6NT28	Missense_Mutation	SNP	NULL	p.A262V	ENST00000371265.4	37	c.785	CCDS602.1	1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371465	0.24771	.	.	ENSG00000162399	ENST00000371265	D	0.87809	-2.3	4.53	0.383	0.16239	.	0.341612	0.24037	N	0.042133	T	0.81602	0.4857	M	0.68317	2.08	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.65063	-0.6259	10	0.20519	T	0.43	-6.4243	8.1471	0.31119	0.0:0.6092:0.0:0.3908	.	262	Q8WZ55	BSND_HUMAN	V	262	ENSP00000360312:A262V	ENSP00000360312:A262V	A	+	2	0	BSND	55246711	0.000000	0.05858	0.004000	0.12327	0.100000	0.18952	0.076000	0.14712	0.192000	0.20272	-0.272000	0.10252	GCC	BSND	-	NULL	ENSG00000162399		0.602	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSND	HGNC	protein_coding	OTTHUMT00000022213.4	53	0.00	0	C	NM_057176		55474123	55474123	+1	no_errors	ENST00000371265	ensembl	human	known	69_37n	missense	78	25.00	26	SNP	0.010	T
C1orf112	55732	genome.wustl.edu	37	1	169770035	169770035	+	5'UTR	SNP	A	A	T			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr1:169770035A>T	ENST00000286031.6	+	0	689				C1orf112_ENST00000413811.2_Intron|C1orf112_ENST00000359326.4_5'UTR|C1orf112_ENST00000456684.1_Missense_Mutation_p.I55F|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112											breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATTTTGAAAATTATTGTAGA	0.294																																						dbGAP											0													25.0	27.0	26.0					1																	169770035		2189	4262	6451	-	-	-	SO:0001623	5_prime_UTR_variant	0			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.-12A>T	1.37:g.169770035A>T			A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	NULL	p.I55F	ENST00000286031.6	37	c.163	CCDS1285.1	1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.333442	0.41297	.	.	ENSG00000000460	ENST00000456684	T	0.66280	-0.2	5.15	0.179	0.15063	.	.	.	.	.	T	0.49847	0.1581	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.52823	-0.8524	6	0.72032	D	0.01	.	5.2806	0.15673	0.4955:0.1513:0.3532:0.0	.	.	.	.	F	55	ENSP00000415583:I55F	ENSP00000415583:I55F	I	+	1	0	C1orf112	168036659	1.000000	0.71417	0.644000	0.29465	0.921000	0.55340	2.082000	0.41605	-0.218000	0.10018	0.383000	0.25322	ATT	C1orf112	-	NULL	ENSG00000000460		0.294	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	39	0.00	0	A	NM_018186		169770035	169770035	+1	no_errors	ENST00000456684	ensembl	human	known	69_37n	missense	40	13.04	6	SNP	0.828	T
DRC7	84229	genome.wustl.edu	37	16	57760088	57760088	+	Missense_Mutation	SNP	C	C	T	rs189601070		TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr16:57760088C>T	ENST00000360716.3	+	14	2088	c.1867C>T	c.(1867-1869)Cgt>Tgt	p.R623C	CCDC135_ENST00000394337.4_Missense_Mutation_p.R623C|CCDC135_ENST00000336825.8_Missense_Mutation_p.R558C			Q8IY82	CC135_HUMAN		623					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTACCACTGCCGTGAGGACCA	0.637													c|||	1	0.000199681	0.0	0.0	5008	,	,		17232	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													65.0	56.0	59.0					16																	57760088		2198	4300	6498	-	-	-	SO:0001583	missense	0																														ENST00000360716.3:c.1867C>T	16.37:g.57760088C>T	ENSP00000353942:p.Arg623Cys		A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	NULL	p.R623C	ENST00000360716.3	37	c.1867	CCDS10787.1	16	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	22.2	4.263378	0.80358	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.10288	3.05;2.89;3.05	4.98	3.96	0.45880	.	0.258956	0.35936	N	0.002893	T	0.29321	0.0730	M	0.73962	2.25	0.38842	D	0.956092	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.967	T	0.04178	-1.0971	10	0.72032	D	0.01	-25.7582	9.7458	0.40446	0.4006:0.5994:0.0:0.0	.	558;623	Q8IY82-2;Q8IY82	.;CC135_HUMAN	C	623;558;623	ENSP00000377869:R623C;ENSP00000338938:R558C;ENSP00000353942:R623C	ENSP00000338938:R558C	R	+	1	0	CCDC135	56317589	0.997000	0.39634	0.995000	0.50966	0.954000	0.61252	0.926000	0.28804	2.325000	0.78763	0.655000	0.94253	CGT	CCDC135	-	NULL	ENSG00000159625		0.637	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC135	HGNC	protein_coding	OTTHUMT00000433323.2	14	0.00	0	C			57760088	57760088	+1	no_errors	ENST00000360716	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	0.993	T
CDC5L	988	genome.wustl.edu	37	6	44413549	44413549	+	Missense_Mutation	SNP	G	G	A	rs202064406		TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr6:44413549G>A	ENST00000371477.3	+	15	2548	c.2249G>A	c.(2248-2250)cGc>cAc	p.R750H		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	750	Interaction with PLRG1.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)	p.R750H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTGGAGTTACGCACTTTTGAA	0.413																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											136.0	132.0	133.0					6																	44413549		2203	4300	6503	-	-	-	SO:0001583	missense	0			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.2249G>A	6.37:g.44413549G>A	ENSP00000360532:p.Arg750His		Q76N46|Q99974	Missense_Mutation	SNP	pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R750H	ENST00000371477.3	37	c.2249	CCDS4912.1	6	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955323	0.53293	.	.	ENSG00000096401	ENST00000371477	T	0.43294	0.95	5.58	3.8	0.43715	.	0.218282	0.49305	D	0.000152	T	0.11410	0.0278	N	0.11560	0.145	0.40634	D	0.981889	B	0.06786	0.001	B	0.04013	0.001	T	0.04400	-1.0954	10	0.46703	T	0.11	-5.7447	11.5541	0.50737	0.1432:0.0:0.8568:0.0	.	750	Q99459	CDC5L_HUMAN	H	750	ENSP00000360532:R750H	ENSP00000360532:R750H	R	+	2	0	CDC5L	44521527	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	6.270000	0.72563	0.728000	0.32382	0.650000	0.86243	CGC	CDC5L	-	NULL	ENSG00000096401		0.413	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC5L	HGNC	protein_coding	OTTHUMT00000040743.1	174	0.00	0	G			44413549	44413549	+1	no_errors	ENST00000371477	ensembl	human	known	69_37n	missense	162	17.26	34	SNP	0.976	A
CEP170	9859	genome.wustl.edu	37	1	243289814	243289814	+	Silent	SNP	G	G	A			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr1:243289814G>A	ENST00000366542.1	-	20	4743	c.4692C>T	c.(4690-4692)ttC>ttT	p.F1564F	CEP170_ENST00000481987.1_Silent_p.F300F|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000490813.1_Silent_p.F273F|CEP170_ENST00000366543.1_Silent_p.F1440F|CEP170_ENST00000366544.1_Silent_p.F1466F	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1564	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AATGTATACTGAAATCAGCCT	0.433																																						dbGAP											0													32.0	29.0	30.0					1																	243289814		1858	4092	5950	-	-	-	SO:0001819	synonymous_variant	0			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.4692C>T	1.37:g.243289814G>A			O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.S1538L	ENST00000366542.1	37	c.4613	CCDS44339.1	1	.	.	.	.	.	.	.	.	.	.	G	9.016	0.983619	0.18889	.	.	ENSG00000143702	ENST00000336415	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	T	0.61311	0.2337	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59337	-0.7473	4	.	.	.	-8.3262	10.6616	0.45706	0.0892:0.0:0.9108:0.0	.	.	.	.	L	1538	.	.	S	-	2	0	CEP170	241356437	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.076000	0.64413	2.338000	0.79540	0.305000	0.20034	TCA	CEP170	-	NULL	ENSG00000143702		0.433	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	61	0.00	0	G	NM_014812		243289814	243289814	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000336415	ensembl	human	novel	69_37n	missense	34	64.58	62	SNP	1.000	A
CNGB1	1258	genome.wustl.edu	37	16	57994814	57994814	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr16:57994814C>T	ENST00000251102.8	-	8	524	c.464G>A	c.(463-465)gGg>gAg	p.G155E	CNGB1_ENST00000311183.4_Missense_Mutation_p.G155E|CNGB1_ENST00000564448.1_Missense_Mutation_p.G155E	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	155					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAGCCGCAGCCCAGGCCTGCA	0.632																																					Colon(156;1293 1853 16336 28962 38659)	dbGAP											0													23.0	31.0	28.0					16																	57994814		2021	4191	6212	-	-	-	SO:0001583	missense	0			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.464G>A	16.37:g.57994814C>T	ENSP00000251102:p.Gly155Glu		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.G155E	ENST00000251102.8	37	c.464	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725941	0.30593	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.98105	-4.72;0.48	4.09	3.1	0.35709	.	0.900060	0.09068	N	0.853337	D	0.97601	0.9214	L	0.47190	1.495	0.09310	N	1	D;P	0.63046	0.992;0.906	D;B	0.63381	0.914;0.36	D	0.91977	0.5591	10	0.66056	D	0.02	.	9.6658	0.39983	0.0:0.7873:0.2127:0.0	.	155;155	Q14028-3;Q14028	.;CNGB1_HUMAN	E	155	ENSP00000251102:G155E;ENSP00000311670:G155E	ENSP00000251102:G155E	G	-	2	0	CNGB1	56552315	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.644000	0.24766	1.020000	0.39573	0.655000	0.94253	GGG	CNGB1	-	NULL	ENSG00000070729		0.632	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	29	0.00	0	C	NM_001297		57994814	57994814	-1	no_errors	ENST00000251102	ensembl	human	known	69_37n	missense	50	13.79	8	SNP	0.001	T
COL6A5	256076	genome.wustl.edu	37	3	130095337	130095337	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr3:130095337C>A	ENST00000432398.2	+	3	819	c.325C>A	c.(325-327)Cag>Aag	p.Q109K	COL6A5_ENST00000265379.6_Missense_Mutation_p.Q109K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	109	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CGGGTCCCTGCAGATAGGAAA	0.507																																						dbGAP											0													48.0	45.0	46.0					3																	130095337		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.325C>A	3.37:g.130095337C>A	ENSP00000390895:p.Gln109Lys		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.Q109K	ENST00000432398.2	37	c.325		3	.	.	.	.	.	.	.	.	.	.	C	0.484	-0.878382	0.02550	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.82984	-1.67;-1.67	5.14	2.17	0.27698	.	.	.	.	.	T	0.59445	0.2194	N	0.00991	-1.07	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.42498	-0.9448	9	0.23302	T	0.38	.	14.3519	0.66708	0.7172:0.2827:0.0:0.0	.	109	A8TX70-2	.	K	109	ENSP00000390895:Q109K;ENSP00000265379:Q109K	ENSP00000265379:Q109K	Q	+	1	0	COL6A5	131578027	0.000000	0.05858	0.310000	0.25168	0.031000	0.12232	-0.128000	0.10531	0.192000	0.20272	-0.319000	0.08680	CAG	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.507	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		71	0.00	0	C	NM_153264		130095337	130095337	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	missense	77	13.48	12	SNP	0.166	A
CROCCP2	84809	genome.wustl.edu	37	1	16950470	16950470	+	lincRNA	SNP	C	C	T	rs12144467	byFrequency	TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr1:16950470C>T	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AACAGGCTGCCCTCCAGGGCT	0.662																																						dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16950470C>T			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.662	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	18	0.00	0	C	NR_026752.1		16950470	16950470	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	38	19.15	9	SNP	0.996	T
DCAF11	80344	genome.wustl.edu	37	14	24586235	24586235	+	Missense_Mutation	SNP	G	G	T	rs370427032		TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr14:24586235G>T	ENST00000446197.3	+	3	992	c.265G>T	c.(265-267)Gat>Tat	p.D89Y	DCAF11_ENST00000559115.1_Missense_Mutation_p.D89Y|DCAF11_ENST00000560171.1_Intron|NRL_ENST00000561028.1_5'Flank|DCAF11_ENST00000396941.4_Missense_Mutation_p.D63Y|DCAF11_ENST00000396936.1_Silent_p.G10G	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	89					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TCGTCTTGGGGATCGATACAA	0.438																																						dbGAP											0													113.0	110.0	111.0					14																	24586235		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.265G>T	14.37:g.24586235G>T	ENSP00000415556:p.Asp89Tyr		B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D89Y	ENST00000446197.3	37	c.265	CCDS9610.1	14	.	.	.	.	.	.	.	.	.	.	g	15.58	2.875356	0.51695	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396941	T	0.51325	0.71	5.22	5.22	0.72569	.	0.095417	0.64402	D	0.000001	T	0.54549	0.1865	L	0.51422	1.61	0.80722	D	1	P;P;D	0.56521	0.815;0.868;0.976	B;B;P	0.51615	0.418;0.23;0.675	T	0.56829	-0.7914	10	0.62326	D	0.03	-15.1857	16.3214	0.82952	0.0:0.0:1.0:0.0	.	63;89;89	Q8TEB1-2;A8K9T2;Q8TEB1	.;.;DCA11_HUMAN	Y	89;63;63	ENSP00000380146:D63Y	ENSP00000323680:D89Y	D	+	1	0	DCAF11	23656075	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	5.551000	0.67274	2.720000	0.93068	0.563000	0.77884	GAT	DCAF11	-	pirsf_WD_repeat_p23	ENSG00000100897		0.438	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF11	HGNC	protein_coding	OTTHUMT00000071907.4	82	0.00	0	G			24586235	24586235	+1	no_errors	ENST00000446197	ensembl	human	known	69_37n	missense	107	15.08	19	SNP	1.000	T
DDX43	55510	genome.wustl.edu	37	6	74123768	74123768	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr6:74123768delA	ENST00000370336.4	+	13	1730	c.1572delA	c.(1570-1572)agafs	p.R524fs	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	524	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GAGAACAGAGAGATCGGGAGA	0.363																																						dbGAP											0													60.0	59.0	59.0					6																	74123768		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1572delA	6.37:g.74123768delA	ENSP00000359361:p.Arg524fs		B4E0C8|Q6NXR1	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D525fs	ENST00000370336.4	37	c.1572	CCDS4977.1	6																																																																																			DDX43	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000080007		0.363	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX43	HGNC	protein_coding	OTTHUMT00000041219.3	65	0.00	0	A	NM_018665		74123768	74123768	+1	no_errors	ENST00000370336	ensembl	human	known	69_37n	frame_shift_del	46	13.21	7	DEL	0.796	-
DPEP1	1800	genome.wustl.edu	37	16	89696849	89696849	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr16:89696849G>T	ENST00000393092.3	+	2	322	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	DPEP1_ENST00000421184.1_Missense_Mutation_p.V11L|DPEP1_ENST00000261615.4_Missense_Mutation_p.V11L	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	11					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GTGGCCCCTTGTGGCCGTCTG	0.642																																						dbGAP											0													74.0	71.0	72.0					16																	89696849		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.31G>T	16.37:g.89696849G>T	ENSP00000376807:p.Val11Leu		D3DX80|Q96AK2	Missense_Mutation	SNP	pfam_Peptidase_M19	p.V11L	ENST00000393092.3	37	c.31	CCDS10982.1	16	.	.	.	.	.	.	.	.	.	.	G	0.885	-0.727275	0.03158	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.21932	1.98;1.98;1.98	3.82	0.7	0.18099	.	0.675570	0.13972	N	0.350076	T	0.07683	0.0193	N	0.16656	0.425	0.21553	N	0.999646	B	0.02656	0.0	B	0.04013	0.001	T	0.36237	-0.9756	10	0.02654	T	1	.	0.9703	0.01414	0.2151:0.1902:0.4148:0.1798	.	11	P16444	DPEP1_HUMAN	L	11	ENSP00000397313:V11L;ENSP00000376807:V11L;ENSP00000261615:V11L	ENSP00000261615:V11L	V	+	1	0	DPEP1	88224350	0.848000	0.29623	0.969000	0.41365	0.019000	0.09904	0.987000	0.29603	0.191000	0.20236	-0.136000	0.14681	GTG	DPEP1	-	NULL	ENSG00000015413		0.642	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP1	HGNC	protein_coding	OTTHUMT00000423058.1	15	0.00	0	G	NM_001128141		89696849	89696849	+1	no_errors	ENST00000261615	ensembl	human	known	69_37n	missense	47	21.67	13	SNP	0.949	T
DPY19L2P1	554236	genome.wustl.edu	37	7	35131356	35131357	+	RNA	DEL	TG	TG	-	rs182353742|rs376288775	byFrequency	TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr7:35131356_35131357delTG	ENST00000436258.1	-	0	2012_2013							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										AGGATGAGTTtgtgtgtgtgtg	0.406																																						dbGAP											0																																										-	-	-			0			BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131366_35131367delTG			B4E2E3	RNA	DEL	-	NULL	ENST00000436258.1	37	NULL		7																																																																																			DPY19L2P1	-	-	ENSG00000189212		0.406	DPY19L2P1-002	KNOWN	basic	processed_transcript	DPY19L2P1	HGNC	pseudogene	OTTHUMT00000338113.1	20	0.00	0	TG			35131356	35131357	-1	no_errors	ENST00000436258	ensembl	human	known	69_37n	rna	26	12.90	4	DEL	0.000:0.000	-
EFHC1	114327	genome.wustl.edu	37	6	52285258	52285258	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr6:52285258T>G	ENST00000371068.5	+	1	153	c.50T>G	c.(49-51)tTt>tGt	p.F17C	EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000433625.2_5'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	17						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GGCACGTCCTTTAAGGACTCT	0.612																																						dbGAP											0													191.0	139.0	156.0					6																	52285258		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.50T>G	6.37:g.52285258T>G	ENSP00000360107:p.Phe17Cys		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2	p.F17C	ENST00000371068.5	37	c.50	CCDS4942.1	6	.	.	.	.	.	.	.	.	.	.	T	17.36	3.370643	0.61624	.	.	ENSG00000096093	ENST00000371068	T	0.70986	-0.53	4.63	3.43	0.39272	.	0.214060	0.49305	N	0.000150	T	0.62134	0.2403	M	0.89095	3.005	0.80722	D	1	P	0.36733	0.567	B	0.38106	0.265	T	0.66551	-0.5895	10	0.72032	D	0.01	-20.8493	6.7747	0.23613	0.1515:0.0:0.1582:0.6903	.	17	Q5JVL4	EFHC1_HUMAN	C	17	ENSP00000360107:F17C	ENSP00000360107:F17C	F	+	2	0	EFHC1	52393217	0.988000	0.35896	0.992000	0.48379	0.945000	0.59286	2.188000	0.42612	0.693000	0.31634	0.533000	0.62120	TTT	EFHC1	-	NULL	ENSG00000096093		0.612	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHC1	HGNC	protein_coding	OTTHUMT00000040905.2	18	0.00	0	T	NM_018100		52285258	52285258	+1	no_errors	ENST00000371068	ensembl	human	known	69_37n	missense	74	38.84	47	SNP	0.944	G
IFT80	57560	genome.wustl.edu	37	3	160000320	160000320	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr3:160000320G>A	ENST00000326448.7	-	14	1894	c.1462C>T	c.(1462-1464)Ctc>Ttc	p.L488F	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.L659F|IFT80_ENST00000496589.1_Missense_Mutation_p.L351F|IFT80_ENST00000483465.1_Missense_Mutation_p.L351F	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	488					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTGATACAGAGATCTCTATTT	0.264																																						dbGAP											0													46.0	49.0	48.0					3																	160000320		2200	4282	6482	-	-	-	SO:0001583	missense	0			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1462C>T	3.37:g.160000320G>A	ENSP00000312778:p.Leu488Phe		B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L659F	ENST00000326448.7	37	c.1975	CCDS3188.1	3	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836686	0.91117	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	T;T;T	0.73363	2.07;-0.74;-0.74	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.52532	U	0.000070	D	0.86990	0.6066	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.87108	0.2183	10	0.52906	T	0.07	.	19.646	0.95777	0.0:0.0:1.0:0.0	.	488	Q9P2H3	IFT80_HUMAN	F	488;351;351	ENSP00000312778:L488F;ENSP00000418196:L351F;ENSP00000420646:L351F	ENSP00000312778:L488F	L	-	1	0	IFT80	161483014	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.966000	0.76073	2.645000	0.89757	0.591000	0.81541	CTC	RP11-432B6.3	-	superfamily_WD40_repeat_dom	ENSG00000248710		0.264	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248710	Clone_based_vega_gene	protein_coding	OTTHUMT00000352651.2	187	0.00	0	G	NM_020800		160000320	160000320	-1	no_errors	ENST00000483754	ensembl	human	known	69_37n	missense	72	16.28	14	SNP	1.000	A
ERN1	2081	genome.wustl.edu	37	17	62130285	62130285	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr17:62130285C>T	ENST00000433197.3	-	17	2203	c.2108G>A	c.(2107-2109)gGc>gAc	p.G703D		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CTTGATCTTGCCGTGTGCATT	0.537																																						dbGAP											0													65.0	63.0	64.0					17																	62130285		2061	4211	6272	-	-	-	SO:0001583	missense	0			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2108G>A	17.37:g.62130285C>T	ENSP00000401445:p.Gly703Asp			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_KEN_RNase_activator,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom	p.G703D	ENST00000433197.3	37	c.2108	CCDS45762.1	17	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904697	0.72868	.	.	ENSG00000178607	ENST00000433197	T	0.56611	0.45	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57755	0.2075	L	0.57536	1.79	0.80722	D	1	B	0.25743	0.133	B	0.34873	0.191	T	0.56001	-0.8051	10	0.48119	T	0.1	-29.754	19.3787	0.94523	0.0:1.0:0.0:0.0	.	703	O75460	ERN1_HUMAN	D	703	ENSP00000401445:G703D	ENSP00000401445:G703D	G	-	2	0	ERN1	59484017	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	7.448000	0.80631	2.588000	0.87417	0.205000	0.17691	GGC	ERN1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000178607		0.537	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN1	HGNC	protein_coding	OTTHUMT00000443734.2	47	0.00	0	C	NM_001433		62130285	62130285	-1	no_errors	ENST00000433197	ensembl	human	known	69_37n	missense	139	26.46	50	SNP	1.000	T
GATA3	2625	genome.wustl.edu	37	10	8111506	8111507	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr10:8111506_8111507delAT	ENST00000346208.3	+	5	1447_1448	c.992_993delAT	c.(991-993)aatfs	p.N331fs	GATA3_ENST00000379328.3_Frame_Shift_Del_p.N332fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	331					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TGGAGGAGGAATGCCAATGGGG	0.559			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.992_993delAT	10.37:g.8111506_8111507delAT	ENSP00000341619:p.Asn331fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Del	DEL	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.N332fs	ENST00000346208.3	37	c.995_996	CCDS7083.1	10																																																																																			GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.559	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	58	0.00	0	AT	NM_001002295		8111506	8111507	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_del	112	18.57	26	DEL	1.000:0.872	-
GPR116	221395	genome.wustl.edu	37	6	46826804	46826804	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr6:46826804T>C	ENST00000283296.7	-	17	3124	c.2836A>G	c.(2836-2838)Agc>Ggc	p.S946G	GPR116_ENST00000456426.2_Missense_Mutation_p.S804G|GPR116_ENST00000265417.7_Missense_Mutation_p.S946G|GPR116_ENST00000362015.4_Missense_Mutation_p.S946G|GPR116_ENST00000545669.1_Missense_Mutation_p.S375G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	946					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCTGAAGGGCTATTGTTCTTA	0.463																																					NSCLC(59;410 1274 8751 36715 50546)	dbGAP											0													107.0	98.0	101.0					6																	46826804		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2836A>G	6.37:g.46826804T>C	ENSP00000283296:p.Ser946Gly		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.S946G	ENST00000283296.7	37	c.2836	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	T	5.860	0.342872	0.11069	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.27720	1.69;2.07;1.69;1.69;1.65	5.32	-1.42	0.08913	.	0.752615	0.12304	N	0.480878	T	0.05456	0.0144	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.33904	0.023;0.007;0.053;0.431;0.053	B;B;B;B;B	0.36186	0.033;0.017;0.01;0.219;0.01	T	0.31530	-0.9940	10	0.48119	T	0.1	-3.4788	7.2743	0.26275	0.0:0.3134:0.2444:0.4421	.	375;501;946;804;946	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	G	946;946;946;804;317;946;375	ENSP00000283296:S946G;ENSP00000354563:S946G;ENSP00000412866:S804G;ENSP00000265417:S946G;ENSP00000441581:S375G	ENSP00000265417:S946G	S	-	1	0	GPR116	46934763	0.000000	0.05858	0.037000	0.18230	0.380000	0.30137	-0.372000	0.07504	-0.146000	0.11274	0.454000	0.30748	AGC	GPR116	-	NULL	ENSG00000069122		0.463	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	131	0.00	0	T	NM_015234		46826804	46826804	-1	no_errors	ENST00000265417	ensembl	human	known	69_37n	missense	159	11.11	20	SNP	0.000	C
KCNB2	9312	genome.wustl.edu	37	8	73480344	73480344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr8:73480344C>A	ENST00000523207.1	+	2	963	c.375C>A	c.(373-375)taC>taA	p.Y125*		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	125					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AACTTGATTACTGGGGGATTG	0.443																																						dbGAP											0													97.0	101.0	100.0					8																	73480344		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.375C>A	8.37:g.73480344C>A	ENSP00000430846:p.Tyr125*		Q7Z7D0|Q9BXD3	Nonsense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.Y125*	ENST00000523207.1	37	c.375	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	C	42	9.664558	0.99233	.	.	ENSG00000182674	ENST00000523207	.	.	.	6.07	3.32	0.38043	.	0.000000	0.30762	U	0.008929	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1671	0.31233	0.0:0.5923:0.0:0.4077	.	.	.	.	X	125	.	ENSP00000430846:Y125X	Y	+	3	2	KCNB2	73642898	0.984000	0.35163	1.000000	0.80357	0.963000	0.63663	0.328000	0.19681	0.448000	0.26722	0.655000	0.94253	TAC	KCNB2	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	ENSG00000182674		0.443	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	103	0.00	0	C	NM_004770		73480344	73480344	+1	no_errors	ENST00000523207	ensembl	human	known	69_37n	nonsense	126	10.64	15	SNP	1.000	A
KCNMB2	10242	genome.wustl.edu	37	3	178560678	178560678	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr3:178560678C>T	ENST00000432997.1	+	5	1013	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	KCNMB2_ENST00000358316.3_Nonsense_Mutation_p.Q221*|RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000452583.1_Nonsense_Mutation_p.Q221*|KCNMB2_ENST00000420517.2_Nonsense_Mutation_p.Q221*|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	235					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	GAAACTTACACAGTACCTCTC	0.398																																						dbGAP											0													86.0	83.0	84.0					3																	178560678		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.661C>T	3.37:g.178560678C>T	ENSP00000407592:p.Gln221*		B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Nonsense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu	p.Q221*	ENST00000432997.1	37	c.661	CCDS3223.1	3	.	.	.	.	.	.	.	.	.	.	C	39	7.907562	0.98554	.	.	ENSG00000197584	ENST00000420517;ENST00000452583;ENST00000432997;ENST00000358316;ENST00000457763	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-15.2374	19.9813	0.97326	0.0:1.0:0.0:0.0	.	.	.	.	X	221;221;221;221;202	.	ENSP00000351068:Q221X	Q	+	1	0	KCNMB2	180043372	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.248000	0.78268	2.726000	0.93360	0.655000	0.94253	CAG	KCNMB2	-	pfam_K_chnl_Ca-activ_BK_bsu	ENSG00000197584		0.398	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNMB2	HGNC	protein_coding	OTTHUMT00000348251.1	59	0.00	0	C	NM_181361		178560678	178560678	+1	no_errors	ENST00000358316	ensembl	human	known	69_37n	nonsense	68	36.11	39	SNP	1.000	T
MAMLD1	10046	genome.wustl.edu	37	X	149638801	149638802	+	Frame_Shift_Ins	INS	-	-	AAAG			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chrX:149638801_149638802insAAAG	ENST00000370401.2	+	4	1266_1267	c.956_957insAAAG	c.(955-960)acaaagfs	p.-320fs	MAMLD1_ENST00000426613.2_Frame_Shift_Ins_p.-295fs|MAMLD1_ENST00000432680.2_Frame_Shift_Ins_p.-295fs|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Frame_Shift_Ins_p.-320fs			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1						male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTCTGCTACAAAGCAGCAAG	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.957_960dupAAAG	X.37:g.149638802_149638805dupAAAG	ENSP00000359428:p.Lys320fs		B2RCQ4|B4DG93|B9EGA5	Frame_Shift_Ins	INS	NULL	p.Q296fs	ENST00000370401.2	37	c.881_882	CCDS14693.2	X																																																																																			MAMLD1	-	NULL	ENSG00000013619		0.649	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	26	0.00	0	-	NM_005491		149638801	149638802	+1	no_errors	ENST00000432680	ensembl	human	known	69_37n	frame_shift_ins	31	11.43	4	INS	0.001:0.000	AAAG
L1CAM	3897	genome.wustl.edu	37	X	153134145	153134145	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chrX:153134145G>A	ENST00000370060.1	-	13	1606	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	L1CAM_ENST00000370057.3_Missense_Mutation_p.R473C|L1CAM_ENST00000370055.1_Missense_Mutation_p.R468C|L1CAM_ENST00000361981.3_Missense_Mutation_p.R468C|L1CAM_ENST00000543994.1_Missense_Mutation_p.R475C|L1CAM_ENST00000538883.1_Missense_Mutation_p.R475C|L1CAM_ENST00000361699.4_Missense_Mutation_p.R473C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	473	Ig-like C2-type 5.		R -> C (in HSAS and MASA). {ECO:0000269|PubMed:9744477}.		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)			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)					GGGAAGAAGCGTTCGTCCTGA	0.622																																						dbGAP											0			GRCh37	CM981153	L1CAM	M							141.0	103.0	116.0					X																	153134145		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1417C>T	X.37:g.153134145G>A	ENSP00000359077:p.Arg473Cys		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R475C	ENST00000370060.1	37	c.1423	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302319	0.60195	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.62	4.75	0.60458	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.103452	0.44285	D	0.000478	D	0.92179	0.7520	H	0.94771	3.58	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.991;0.997;0.995	D	0.93794	0.7095	10	0.87932	D	0	.	14.1243	0.65210	0.0:0.0:0.8491:0.1509	.	468;473;473	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	C	473;475;473;475;468;468;473	ENSP00000359077:R473C;ENSP00000438430:R475C;ENSP00000359074:R473C;ENSP00000439645:R475C;ENSP00000354712:R468C;ENSP00000359072:R468C;ENSP00000355380:R473C	ENSP00000355380:R473C	R	-	1	0	L1CAM	152787339	0.995000	0.38212	0.942000	0.38095	0.714000	0.41099	3.146000	0.50631	1.132000	0.42129	0.529000	0.55759	CGC	L1CAM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000198910		0.622	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	52	0.00	0	G	NM_024003		153134145	153134145	-1	no_errors	ENST00000543994	ensembl	human	known	69_37n	missense	164	17.59	35	SNP	0.741	A
URB1	9875	genome.wustl.edu	37	21	33686921	33686921	+	3'UTR	SNP	C	C	G			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr21:33686921C>G	ENST00000382751.3	-	0	7239				MRAP_ENST00000399786.3_Missense_Mutation_p.S89C|MRAP_ENST00000339944.4_Missense_Mutation_p.S89C	NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)							nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						CGAGCTATTTCCTGTGATGAG	0.473																																						dbGAP											0													79.0	76.0	77.0					21																	33686921		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919	ENST00000382751.3:c.*308G>C	21.37:g.33686921C>G			D3DSE5|Q96NX1|Q9NYQ1	Missense_Mutation	SNP	NULL	p.S89C	ENST00000382751.3	37	c.266	CCDS46645.1	21	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981332	0.34942	.	.	ENSG00000170262	ENST00000399786;ENST00000339944	D;D	0.87966	-2.32;-2.32	2.27	-1.37	0.09056	.	.	.	.	.	D	0.84424	0.5469	.	.	.	0.09310	N	1	P	0.43352	0.804	P	0.47015	0.534	T	0.75141	-0.3422	8	0.72032	D	0.01	.	5.6106	0.17404	0.0:0.4213:0.0:0.5787	.	89	Q8TCY5-2	.	C	89	ENSP00000382686:S89C;ENSP00000343661:S89C	ENSP00000343661:S89C	S	+	2	0	MRAP	32608792	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	0.783000	0.26802	-0.347000	0.08299	0.591000	0.81541	TCC	MRAP	-	NULL	ENSG00000170262		0.473	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRAP	HGNC	protein_coding	OTTHUMT00000139400.2	61	0.00	0	C			33686921	33686921	+1	no_errors	ENST00000339944	ensembl	human	known	69_37n	missense	76	20.00	19	SNP	0.000	G
NF2	4771	genome.wustl.edu	37	22	30054223	30054223	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr22:30054223G>C	ENST00000338641.4	+	7	1086	c.645G>C	c.(643-645)gaG>gaC	p.E215D	NF2_ENST00000361452.4_Missense_Mutation_p.E174D|NF2_ENST00000361166.4_Missense_Mutation_p.E215D|NF2_ENST00000397789.3_Missense_Mutation_p.E215D|NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Missense_Mutation_p.E215D|NF2_ENST00000347330.5_Intron|NF2_ENST00000361676.4_Missense_Mutation_p.E173D|NF2_ENST00000334961.7_Missense_Mutation_p.E132D|NF2_ENST00000353887.4_Missense_Mutation_p.E132D|NF2_ENST00000403999.3_Missense_Mutation_p.E215D	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	215	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.Q212fs*8(1)|p.E215fs*4(1)|p.M216fs*7(1)|p.L208fs*26(1)|p.Y207fs*27(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AGGACCTGGAGATGTACGGTG	0.493			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													dbGAP	yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	8	Deletion - Frameshift(4)|Unknown(3)|Complex - frameshift(1)	soft_tissue(5)|large_intestine(1)|stomach(1)|central_nervous_system(1)	GRCh37	CD077814	NF2	D							202.0	153.0	170.0					22																	30054223		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.645G>C	22.37:g.30054223G>C	ENSP00000344666:p.Glu215Asp		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,prints_Tropomyosin,pfscan_FERM_domain	p.E215D	ENST00000338641.4	37	c.645	CCDS13861.1	22	.	.	.	.	.	.	.	.	.	.	G	6.091	0.385005	0.11524	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	D;D;D;D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.71	2.27	0.28462	Band 4.1 domain (1);FERM central domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.050767	0.85682	D	0.000000	T	0.71256	0.3318	N	0.26042	0.785	0.80722	D	1	B;B;B;B;B;B	0.09022	0.002;0.0;0.001;0.0;0.001;0.001	B;B;B;B;B;B	0.12837	0.008;0.004;0.004;0.001;0.002;0.004	T	0.61476	-0.7055	9	.	.	.	.	6.4204	0.21740	0.2673:0.1253:0.6074:0.0	.	174;215;215;173;132;215	P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;MERL_HUMAN;.;.;.;.	D	215;215;174;215;215;132;132;215;173;215	ENSP00000344666:E215D;ENSP00000384029:E215D;ENSP00000354897:E174D;ENSP00000384797:E215D;ENSP00000335652:E132D;ENSP00000340626:E132D;ENSP00000380891:E215D;ENSP00000355183:E173D;ENSP00000354529:E215D	.	E	+	3	2	NF2	28384223	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	1.252000	0.32874	1.421000	0.47157	0.558000	0.71614	GAG	NF2	-	pirsf_ERM,pfam_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain	ENSG00000186575		0.493	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	HGNC	protein_coding	OTTHUMT00000075615.3	179	0.00	0	G	NM_000268		30054223	30054223	+1	no_errors	ENST00000338641	ensembl	human	known	69_37n	missense	194	29.20	80	SNP	1.000	C
RB1	5925	genome.wustl.edu	37	13	48936989	48936989	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr13:48936989delC	ENST00000267163.4	+	8	895	c.757delC	c.(757-759)cccfs	p.P253fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	253					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACCTCGAACACCCAGGCGAGG	0.338		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												dbGAP	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	21	Whole gene deletion(15)|Unknown(6)	bone(11)|breast(5)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											107.0	109.0	108.0					13																	48936989		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.757delC	13.37:g.48936989delC	ENSP00000267163:p.Pro253fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.R254fs	ENST00000267163.4	37	c.757	CCDS31973.1	13																																																																																			RB1	-	NULL	ENSG00000139687		0.338	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	142	0.00	0	C			48936989	48936989	+1	no_errors	ENST00000267163	ensembl	human	known	69_37n	frame_shift_del	46	48.96	47	DEL	1.000	-
SCN1A	6323	genome.wustl.edu	37	2	166900252	166900252	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr2:166900252G>T	ENST00000303395.4	-	11	1969	c.1970C>A	c.(1969-1971)cCt>cAt	p.P657H	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.P657H|SCN1A_ENST00000409050.1_Intron|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.P657H			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	657					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGAACTGAAGGTCCACCAAC	0.483																																						dbGAP											0													139.0	119.0	126.0					2																	166900252		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1970C>A	2.37:g.166900252G>T	ENSP00000303540:p.Pro657His		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.P657H	ENST00000303395.4	37	c.1970	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613759	0.46631	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405	D;D;D	0.90844	-2.74;-2.74;-2.74	4.9	4.9	0.64082	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000004	D	0.94644	0.8273	M	0.76002	2.32	0.33191	D	0.550901	P;D	0.59357	0.799;0.985	B;P	0.62740	0.366;0.906	D	0.96554	0.9410	10	0.59425	D	0.04	.	18.4438	0.90676	0.0:0.0:1.0:0.0	.	657;657	P35498-2;P35498	.;SCN1A_HUMAN	H	657	ENSP00000407030:P657H;ENSP00000303540:P657H;ENSP00000364554:P657H	ENSP00000303540:P657H	P	-	2	0	SCN1A	166608498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.103000	0.57783	2.423000	0.82170	0.561000	0.74099	CCT	SCN1A	-	pfam_DUF3451	ENSG00000144285		0.483	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	76	0.00	0	G	NM_006920		166900252	166900252	-1	no_errors	ENST00000303395	ensembl	human	known	69_37n	missense	118	37.23	70	SNP	1.000	T
SETD8	387893	genome.wustl.edu	37	12	123892232	123892232	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr12:123892232C>A	ENST00000402868.3	+	8	1467	c.1041C>A	c.(1039-1041)caC>caA	p.H347Q	SETD8_ENST00000330479.4_Missense_Mutation_p.H347Q			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	388	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		TTGAAGCCCACCCGTGGCTGA	0.572																																						dbGAP											0													17.0	17.0	17.0					12																	123892232		2201	4288	6489	-	-	-	SO:0001583	missense	0			AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.1041C>A	12.37:g.123892232C>A	ENSP00000384629:p.His347Gln		A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom	p.H347Q	ENST00000402868.3	37	c.1041	CCDS9247.1	12	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704117	0.68615	.	.	ENSG00000183955	ENST00000402868;ENST00000330479	D;D	0.98381	-4.9;-4.9	5.12	3.27	0.37495	.	0.194977	0.53938	D	0.000055	D	0.98235	0.9416	M	0.83483	2.645	0.58432	D	0.999999	D;P	0.61080	0.989;0.901	P;P	0.56474	0.799;0.768	D	0.98141	1.0436	10	0.87932	D	0	-3.3042	8.9254	0.35637	0.0:0.7091:0.0:0.2909	.	388;347	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	Q	347	ENSP00000384629:H347Q;ENSP00000332995:H347Q	ENSP00000332995:H347Q	H	+	3	2	SETD8	122458185	1.000000	0.71417	0.999000	0.59377	0.871000	0.50021	1.141000	0.31528	1.293000	0.44690	0.655000	0.94253	CAC	SETD8	-	pirsf_Hist_H4-K20_MeTrfase	ENSG00000183955		0.572	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD8	HGNC	protein_coding	OTTHUMT00000318263.1	11	0.00	0	C	NM_020382		123892232	123892232	+1	no_errors	ENST00000330479	ensembl	human	known	69_37n	missense	22	35.29	12	SNP	1.000	A
SLC9A6	10479	genome.wustl.edu	37	X	135112303	135112303	+	Silent	SNP	T	T	C			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chrX:135112303T>C	ENST00000370698.3	+	13	1568	c.1533T>C	c.(1531-1533)gaT>gaC	p.D511D	SLC9A6_ENST00000370695.4_Silent_p.D543D|SLC9A6_ENST00000370701.1_Silent_p.D491D	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	511					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTGGTGTTGATTCAGACCAAG	0.353																																						dbGAP											0													306.0	246.0	266.0					X																	135112303		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1533T>C	X.37:g.135112303T>C			A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.D543	ENST00000370698.3	37	c.1629	CCDS14654.1	X																																																																																			SLC9A6	-	prints_Na/H_exchanger_6,tigrfam_NaH_exchanger	ENSG00000198689		0.353	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	SLC9A6	HGNC	protein_coding	OTTHUMT00000058450.1	595	0.00	0	T	NM_006359		135112303	135112303	+1	no_errors	ENST00000370695	ensembl	human	known	69_37n	silent	426	15.98	81	SNP	1.000	C
SPEN	23013	genome.wustl.edu	37	1	16261573	16261573	+	Silent	SNP	G	G	A			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr1:16261573G>A	ENST00000375759.3	+	11	9042	c.8838G>A	c.(8836-8838)caG>caA	p.Q2946Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2946					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTCACAACCAGCTGGTCCTCA	0.582																																						dbGAP											0													59.0	62.0	61.0					1																	16261573		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8838G>A	1.37:g.16261573G>A			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.Q2946	ENST00000375759.3	37	c.8838	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.582	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	46	0.00	0	G	NM_015001		16261573	16261573	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	silent	41	22.64	12	SNP	1.000	A
SSTR4	6754	genome.wustl.edu	37	20	23016498	23016498	+	Silent	SNP	C	C	T			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr20:23016498C>T	ENST00000255008.3	+	1	442	c.378C>T	c.(376-378)gaC>gaT	p.D126D	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	126					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCAGCGTCGACGGCCTCAACA	0.697																																					Esophageal Squamous(15;850 1104 16640)	dbGAP											0													80.0	80.0	80.0					20																	23016498		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.378C>T	20.37:g.23016498C>T			Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Somatstn_rcpt_4,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1	p.D126	ENST00000255008.3	37	c.378	CCDS42856.1	20																																																																																			SSTR4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt	ENSG00000132671		0.697	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR4	HGNC	protein_coding	OTTHUMT00000078308.1	17	0.00	0	C			23016498	23016498	+1	no_errors	ENST00000255008	ensembl	human	known	69_37n	silent	36	50.00	36	SNP	0.981	T
SULT1E1	6783	genome.wustl.edu	37	4	70707775	70707775	+	Silent	SNP	T	T	C			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr4:70707775T>C	ENST00000226444.3	-	8	934	c.822A>G	c.(820-822)aaA>aaG	p.K274K		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	274					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)	p.K274K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	GTTTATCAAATTTTTCATTCA	0.308																																						dbGAP											1	Substitution - coding silent(1)	kidney(1)											112.0	114.0	113.0					4																	70707775		2203	4294	6497	-	-	-	SO:0001819	synonymous_variant	0			BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.822A>G	4.37:g.70707775T>C			Q8N6X5	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.N107S	ENST00000226444.3	37	c.320	CCDS3531.1	4																																																																																			SULT1E1	-	pfam_Sulfotransferase_dom	ENSG00000109193		0.308	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1E1	HGNC	protein_coding	OTTHUMT00000251559.1	285	0.00	0	T	NM_005420		70707775	70707775	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000506796	ensembl	human	known	69_37n	missense	52	51.40	55	SNP	0.663	C
TRRAP	8295	genome.wustl.edu	37	7	98507951	98507951	+	Silent	SNP	C	C	T	rs373918715		TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr7:98507951C>T	ENST00000359863.4	+	15	1832	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	TRRAP_ENST00000446306.3_Silent_p.F541F|TRRAP_ENST00000355540.3_Silent_p.F541F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	541					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCAGACATTCCAAGTCACAG	0.562																																						dbGAP											0													113.0	114.0	113.0					7																	98507951		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.1623C>T	7.37:g.98507951C>T			A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S256F	ENST00000359863.4	37	c.767	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	C	9.186	1.024703	0.19433	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.91	3.14	0.36123	.	.	.	.	.	T	0.58779	0.2146	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51756	-0.8665	4	.	.	.	.	9.2108	0.37318	0.0:0.6391:0.0:0.3609	.	.	.	.	F	256	.	.	S	+	2	0	TRRAP	98345887	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	1.602000	0.36783	0.396000	0.25283	-0.145000	0.13849	TCC	TRRAP	-	NULL	ENSG00000196367		0.562	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	47	0.00	0	C	NM_003496		98507951	98507951	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000456197	ensembl	human	novel	69_37n	missense	43	21.82	12	SNP	1.000	T
TRRAP	8295	genome.wustl.edu	37	7	98529083	98529083	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr7:98529083G>A	ENST00000359863.4	+	26	3856	c.3647G>A	c.(3646-3648)cGg>cAg	p.R1216Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.R1215Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.R1216Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1216					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.R1216Q(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTCTGATGCGGTGCGCAACG	0.547																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)											55.0	49.0	51.0					7																	98529083		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3647G>A	7.37:g.98529083G>A	ENSP00000352925:p.Arg1216Gln		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R1216Q	ENST00000359863.4	37	c.3647	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.237359|4.237359	0.79800|0.79800	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.64618	.|3.56;-0.11	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50667|0.50667	0.1629|0.1629	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.16802	.|0.012;0.006;0.019	.|B;B;B	.|0.06405	.|0.001;0.002;0.002	T|T	0.36986|0.36986	-0.9725|-0.9725	5|10	.|0.24483	.|T	.|0.36	.|.	20.6243|20.6243	0.99512|0.99512	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1216;930;1216	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	S|Q	931|1216;1216;1214	.|ENSP00000352925:R1216Q;ENSP00000347733:R1216Q	.|ENSP00000347733:R1216Q	G|R	+|+	1|2	0|0	TRRAP|TRRAP	98367019|98367019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	9.330000|9.330000	0.96422|0.96422	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	GGT|CGG	TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.547	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	18	0.00	0	G	NM_003496		98529083	98529083	+1	no_errors	ENST00000359863	ensembl	human	known	69_37n	missense	51	22.73	15	SNP	1.000	A
ZNF41	7592	genome.wustl.edu	37	X	47307013	47307013	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chrX:47307013T>C	ENST00000377065.4	-	5	2795	c.2156A>G	c.(2155-2157)tAt>tGt	p.Y719C	ZNF41_ENST00000313116.7_Missense_Mutation_p.Y719C|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.Y729C	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	761					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ACTACATTCATAGTGTCTTTC	0.408																																						dbGAP											0													139.0	121.0	127.0					X																	47307013		2203	4300	6503	-	-	-	SO:0001583	missense	0			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.2156A>G	X.37:g.47307013T>C	ENSP00000366265:p.Tyr719Cys		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y729C	ENST00000377065.4	37	c.2186	CCDS14279.1	X	.	.	.	.	.	.	.	.	.	.	T	13.40	2.226970	0.39399	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.25414	1.8;1.8;1.8	3.58	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32175	N	0.006480	T	0.52289	0.1725	M	0.87617	2.895	0.22982	N	0.998471	P;P;D;P;P	0.89917	0.745;0.745;1.0;0.745;0.785	B;B;D;B;B	0.87578	0.181;0.181;0.998;0.181;0.276	T	0.44937	-0.9295	10	0.87932	D	0	.	9.7328	0.40372	0.0:0.0:0.0:1.0	.	719;721;729;753;761	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	C	719;719;729	ENSP00000315173:Y719C;ENSP00000366265:Y719C;ENSP00000380243:Y729C	ENSP00000315173:Y719C	Y	-	2	0	ZNF41	47191957	0.090000	0.21635	0.891000	0.34965	0.905000	0.53344	0.414000	0.21164	1.654000	0.50703	0.486000	0.48141	TAT	ZNF41	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000147124		0.408	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	231	0.00	0	T	NM_153380		47307013	47307013	-1	no_errors	ENST00000397050	ensembl	human	known	69_37n	missense	121	33.88	62	SNP	0.600	C
ZNF414	84330	genome.wustl.edu	37	19	8577297	8577297	+	Silent	SNP	C	C	A			TCGA-BH-A0C7-01B-11D-A10Y-09	TCGA-BH-A0C7-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ba3b30c5-8179-49bd-aacd-53326bf356f8	c31039db-bf46-4da7-95de-7c89adfcee4a	g.chr19:8577297C>A	ENST00000255616.8	-	4	605	c.504G>T	c.(502-504)ctG>ctT	p.L168L	ZNF414_ENST00000393927.4_Silent_p.L168L	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						GTTTGTAGTGCAGTTTGCTGT	0.592																																						dbGAP											0													199.0	167.0	178.0					19																	8577297		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"""Zinc fingers, C2H2-type"""	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.504G>T	19.37:g.8577297C>A			A8MY94	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L168	ENST00000255616.8	37	c.504	CCDS12205.1	19																																																																																			ZNF414	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000133250		0.592	ZNF414-002	KNOWN	basic|CCDS	protein_coding	ZNF414	HGNC	protein_coding	OTTHUMT00000460199.2	78	0.00	0	C	NM_032370		8577297	8577297	-1	no_errors	ENST00000393927	ensembl	human	known	69_37n	silent	273	12.22	38	SNP	1.000	A
