#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCA6	23460	genome.wustl.edu	37	17	67109414	67109414	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr17:67109414G>T	ENST00000284425.2	-	15	2164	c.1990C>A	c.(1990-1992)Cat>Aat	p.H664N		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	664	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGGATCACATGATCTGCTCTA	0.438																																																	0													98.0	89.0	92.0					17																	67109414		2203	4300	6503	SO:0001583	missense	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1990C>A	17.37:g.67109414G>T	ENSP00000284425:p.His664Asn		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.H664N	ENST00000284425.2	37	c.1990	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	G	7.453	0.643039	0.14451	.	.	ENSG00000154262	ENST00000284425	D	0.93133	-3.17	4.95	3.91	0.45181	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.902885	0.09449	N	0.800696	D	0.89111	0.6622	N	0.21194	0.64	0.34693	D	0.72596	B	0.13145	0.007	B	0.14578	0.011	D	0.85524	0.1205	10	0.87932	D	0	.	14.4646	0.67475	0.0:0.0:0.8528:0.1472	.	664	Q8N139	ABCA6_HUMAN	N	664	ENSP00000284425:H664N	ENSP00000284425:H664N	H	-	1	0	ABCA6	64621009	0.004000	0.15560	0.013000	0.15412	0.120000	0.20174	1.439000	0.35013	2.730000	0.93505	0.655000	0.94253	CAT	ABCA6	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.438	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	G	NM_080284		67109414	-1	no_errors	ENST00000284425	ensembl	human	known	70_37	missense	SNP	0.015	T
ABCA6	23460	genome.wustl.edu	37	17	67124905	67124905	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr17:67124905G>A	ENST00000284425.2	-	8	1148	c.974C>T	c.(973-975)gCt>gTt	p.A325V		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	325					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGTGAGGACAGCTTTCTTTAA	0.398																																																	0													113.0	110.0	111.0					17																	67124905		2203	4300	6503	SO:0001583	missense	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.974C>T	17.37:g.67124905G>A	ENSP00000284425:p.Ala325Val		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A325V	ENST00000284425.2	37	c.974	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088705	0.55968	.	.	ENSG00000154262	ENST00000284425	D	0.87729	-2.29	5.61	3.55	0.40652	.	0.515290	0.16083	N	0.230436	D	0.82747	0.5104	L	0.36672	1.1	0.54753	D	0.999987	B	0.33299	0.407	B	0.36766	0.232	T	0.79349	-0.1840	10	0.49607	T	0.09	.	12.9084	0.58166	0.0:0.2848:0.7152:0.0	.	325	Q8N139	ABCA6_HUMAN	V	325	ENSP00000284425:A325V	ENSP00000284425:A325V	A	-	2	0	ABCA6	64636500	0.513000	0.26194	0.619000	0.29118	0.951000	0.60555	1.590000	0.36654	0.795000	0.33922	0.655000	0.94253	GCT	ABCA6	-	NULL		0.398	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	G	NM_080284		67124905	-1	no_errors	ENST00000284425	ensembl	human	known	70_37	missense	SNP	0.767	A
ABCA5	23461	genome.wustl.edu	37	17	67247993	67247993	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr17:67247993G>T	ENST00000392676.3	-	35	4494	c.4430C>A	c.(4429-4431)aCt>aAt	p.T1477N	ABCA5_ENST00000392677.2_Missense_Mutation_p.T1478N|ABCA5_ENST00000588877.1_Missense_Mutation_p.T1477N			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1477	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TTTAAATGCAGTTCGAATTGC	0.398																																																	0													68.0	61.0	63.0					17																	67247993		2203	4300	6503	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4430C>A	17.37:g.67247993G>T	ENSP00000376443:p.Thr1477Asn		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T1478N	ENST00000392676.3	37	c.4433	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020073	0.75275	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.95171	-3.63;-3.63	5.44	5.44	0.79542	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.088021	0.48767	D	0.000174	D	0.89494	0.6731	N	0.05383	-0.06	0.50467	D	0.999879	P	0.44478	0.836	P	0.44359	0.447	D	0.88382	0.3002	10	0.22109	T	0.4	.	19.6122	0.95610	0.0:0.0:1.0:0.0	.	1477	Q8WWZ7	ABCA5_HUMAN	N	1478;1477	ENSP00000376444:T1478N;ENSP00000376443:T1477N	ENSP00000376443:T1477N	T	-	2	0	ABCA5	64759588	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.140000	0.94607	2.709000	0.92574	0.591000	0.81541	ACT	ABCA5	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.398	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	G	NM_018672		67247993	-1	no_errors	ENST00000392677	ensembl	human	known	70_37	missense	SNP	1.000	T
ABCB11	8647	genome.wustl.edu	37	2	169787297	169787297	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr2:169787297T>A	ENST00000263817.6	-	25	3413	c.3289A>T	c.(3289-3291)Aat>Tat	p.N1097Y		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1097	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GAGAGACCATTCAGAACTTGC	0.453																																																	0													76.0	72.0	73.0					2																	169787297		1997	4160	6157	SO:0001583	missense	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3289A>T	2.37:g.169787297T>A	ENSP00000263817:p.Asn1097Tyr		Q53TL2|Q9UNB2	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	p.N1097Y	ENST00000263817.6	37	c.3289	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	T	19.15	3.772391	0.69992	.	.	ENSG00000073734	ENST00000263817	D	0.94280	-3.39	6.08	6.08	0.98989	ABC transporter-like (1);	0.167192	0.64402	D	0.000004	D	0.95856	0.8651	M	0.66378	2.025	0.80722	D	1	D;D	0.60160	0.987;0.987	D;P	0.63033	0.91;0.851	D	0.96153	0.9109	10	0.87932	D	0	.	16.643	0.85134	0.0:0.0:0.0:1.0	.	539;1097	B4DZQ8;O95342	.;ABCBB_HUMAN	Y	1097	ENSP00000263817:N1097Y	ENSP00000263817:N1097Y	N	-	1	0	ABCB11	169495543	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	7.997000	0.88414	2.330000	0.79161	0.533000	0.62120	AAT	ABCB11	-	pfscan_ABC_transporter-like		0.453	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	T	NM_003742		169787297	-1	no_errors	ENST00000263817	ensembl	human	known	70_37	missense	SNP	1.000	A
ABL1	25	genome.wustl.edu	37	9	133729451	133729451	+	Splice_Site	SNP	A	A	T			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr9:133729451A>T	ENST00000318560.5	+	2	461	c.80A>T	c.(79-81)gAa>gTa	p.E27V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	27	CAP.	Breakpoint for translocation to form BCR- ABL oncogene.			actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TCTCTTCCAGAAGCCCTTCAG	0.443			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													69.0	75.0	73.0					9																	133729451		2203	4300	6503	SO:0001630	splice_region_variant	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.80-1A>T	9.37:g.133729451A>T			A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E46V	ENST00000318560.5	37	c.137	CCDS35166.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	33|33	5.275373|5.275373	0.95459|0.95459	.|.	.|.	ENSG00000097007|ENSG00000097007	ENST00000372348;ENST00000438426;ENST00000318560|ENST00000393293	T;T|.	0.38722|.	1.12;1.12|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.099652|.	0.64402|.	D|.	0.000002|.	T|T	0.55862|0.55862	0.1947|0.1947	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;P|.	0.67145|.	0.996;0.81|.	D;B|.	0.63703|.	0.917;0.41|.	T|T	0.52358|0.52358	-0.8586|-0.8586	9|5	.|.	.|.	.|.	.|.	15.4795|15.4795	0.75514|0.75514	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	27;64|.	P00519;Q59FK4|.	ABL1_HUMAN;.|.	V|L	46;73;27|45	ENSP00000361423:E46V;ENSP00000323315:E27V|.	.|.	E|Q	+|+	2|2	0|0	ABL1|ABL1	132719272|132719272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.286000|9.286000	0.95898|0.95898	2.244000|2.244000	0.73946|0.73946	0.519000|0.519000	0.50382|0.50382	GAA|CAA	ABL1	-	NULL		0.443	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	A	NM_007313	Missense_Mutation	133729451	+1	no_errors	ENST00000372348	ensembl	human	known	70_37	missense	SNP	1.000	T
ADCY6	112	genome.wustl.edu	37	12	49176440	49176440	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr12:49176440C>T	ENST00000307885.4	-	1	1472	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	ADCY6_ENST00000550422.1_Missense_Mutation_p.A260T|ADCY6_ENST00000357869.3_Missense_Mutation_p.A260T	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	260					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGAGGACGGCAGCCCGCATG	0.642																																																	0													29.0	31.0	30.0					12																	49176440		2203	4300	6503	SO:0001583	missense	112				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.778G>A	12.37:g.49176440C>T	ENSP00000311405:p.Ala260Thr		Q9NR75|Q9UDB0	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A260T	ENST00000307885.4	37	c.778	CCDS8767.1	12	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207640	0.79240	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.25250	1.81;1.81;1.81	5.26	5.26	0.73747	.	0.067822	0.56097	D	0.000026	T	0.52996	0.1769	M	0.77712	2.385	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.68765	0.944;0.96	T	0.57648	-0.7775	10	0.72032	D	0.01	.	17.6369	0.88124	0.0:1.0:0.0:0.0	.	260;260	O43306-2;O43306	.;ADCY6_HUMAN	T	260	ENSP00000350536:A260T;ENSP00000446730:A260T;ENSP00000311405:A260T	ENSP00000311405:A260T	A	-	1	0	ADCY6	47462707	1.000000	0.71417	0.107000	0.21349	0.434000	0.31775	4.955000	0.63638	2.466000	0.83321	0.655000	0.94253	GCC	ADCY6	-	NULL		0.642	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY6	HGNC	protein_coding	OTTHUMT00000408863.1	C	NM_020983		49176440	-1	no_errors	ENST00000307885	ensembl	human	known	70_37	missense	SNP	0.999	T
ADH5	128	genome.wustl.edu	37	4	100009952	100009953	+	5'Flank	INS	-	-	G	rs397698549|rs574654425|rs562329399|rs11434442	byFrequency	TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr4:100009952_100009953insG	ENST00000296412.8	-	0	0				RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000499178.2_RNA	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		GGGCGGGGCGTGGGGGGGGCTT	0.723																																																	0																																										SO:0001631	upstream_gene_variant	128			M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230		4.37:g.100009960_100009960dupG	Exception_encountered			RNA	INS	-	NULL	ENST00000296412.8	37	NULL	CCDS47111.1	4																																																																																			ADH5	-	-		0.723	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH5	HGNC	protein_coding	OTTHUMT00000364224.1	-	NM_000671		100009953	-1	no_errors	ENST00000508146	ensembl	human	known	70_37	rna	INS	0.000:0.004	G
ANGPTL7	10218	genome.wustl.edu	37	1	11249851	11249851	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr1:11249851G>T	ENST00000376819.3	+	1	454	c.215G>T	c.(214-216)aGg>aTg	p.R72M	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	72					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		AAGCAGGAGAGGGACTGGGTC	0.572																																																	0													96.0	92.0	94.0					1																	11249851		2203	4300	6503	SO:0001583	missense	10218			Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.215G>T	1.37:g.11249851G>T	ENSP00000366015:p.Arg72Met		B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.R72M	ENST00000376819.3	37	c.215	CCDS128.1	1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766473	0.31228	.	.	ENSG00000171819	ENST00000376819	T	0.55760	0.5	5.07	0.778	0.18543	.	1.256760	0.05291	N	0.521185	T	0.33265	0.0857	N	0.14661	0.345	0.09310	N	1	P	0.36495	0.556	B	0.34038	0.174	T	0.22765	-1.0207	10	0.48119	T	0.1	.	5.2242	0.15385	0.3138:0.2426:0.4436:0.0	.	72	O43827	ANGL7_HUMAN	M	72	ENSP00000366015:R72M	ENSP00000366015:R72M	R	+	2	0	ANGPTL7	11172438	0.022000	0.18835	0.795000	0.32087	0.941000	0.58515	0.439000	0.21575	-0.048000	0.13401	0.655000	0.94253	AGG	ANGPTL7	-	NULL		0.572	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL7	HGNC	protein_coding	OTTHUMT00000005564.1	G	NM_021146		11249851	+1	no_errors	ENST00000376819	ensembl	human	known	70_37	missense	SNP	0.008	T
ANK3	288	genome.wustl.edu	37	10	61789498	61789499	+	3'UTR	DEL	AC	AC	-	rs141480911|rs370126548		TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr10:61789498_61789499delAC	ENST00000280772.2	-	0	13430_13431				ANK3_ENST00000373827.2_3'UTR|ANK3_ENST00000355288.2_3'UTR	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAAGCAGCGAACACACACACAC	0.366																																																	0																																										SO:0001624	3_prime_UTR_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.*106GT>-	10.37:g.61789508_61789509delAC			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	RNA	DEL	-	NULL	ENST00000280772.2	37	NULL	CCDS7258.1	10																																																																																			ANK3	-	-		0.366	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	AC	NM_020987		61789499	-1	no_errors	ENST00000480699	ensembl	human	known	70_37	rna	DEL	1.000:1.000	-
ANKRD36BP2	645784	genome.wustl.edu	37	2	89100923	89100924	+	RNA	INS	-	-	G	rs369765448		TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr2:89100923_89100924insG	ENST00000393525.3	+	0	1397_1398									ankyrin repeat domain 36B pseudogene 2																		AATATAAAAAAGATACATATGA	0.282																																																	0																																												645784					2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89100924_89100924dupG				RNA	INS	-	NULL	ENST00000393525.3	37	NULL		2																																																																																			ANKRD36BP2	-	-		0.282	ANKRD36BP2-003	KNOWN	basic	processed_transcript	ANKRD36BP2	HGNC	pseudogene	OTTHUMT00000323523.1	-			89100924	+1	no_errors	ENST00000393525	ensembl	human	known	70_37	rna	INS	0.049:0.030	G
ARMC9	80210	genome.wustl.edu	37	2	232141480	232141480	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr2:232141480G>A	ENST00000349938.4	+	15	1660	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	489						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CTCTGCCTCCGCAGCACAGGT	0.532																																																	0													111.0	102.0	105.0					2																	232141480		2203	4300	6503	SO:0001583	missense	80210			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1466G>A	2.37:g.232141480G>A	ENSP00000258417:p.Arg489His		Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.R489H	ENST00000349938.4	37	c.1466	CCDS2484.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.231500|4.231500	0.79688|0.79688	.|.	.|.	ENSG00000135931|ENSG00000135931	ENST00000424740|ENST00000349938;ENST00000359743;ENST00000436339;ENST00000446447	.|T;T	.|0.50277	.|2.09;0.75	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58452|0.58452	0.2123|0.2123	L|L	0.49513|0.49513	1.565|1.565	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.59767	.|0.986	.|P	.|0.56612	.|0.802	T|T	0.57033|0.57033	-0.7880|-0.7880	5|10	.|0.42905	.|T	.|0.14	-20.6684|-20.6684	17.6598|17.6598	0.88189|0.88189	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|489	.|Q7Z3E5	.|ARMC9_HUMAN	T|H	192|489;489;206;131	.|ENSP00000258417:R489H;ENSP00000392086:R206H	.|ENSP00000258417:R489H	A|R	+|+	1|2	0|0	ARMC9|ARMC9	231849724|231849724	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.419000|0.419000	0.31324|0.31324	8.640000|8.640000	0.91028|0.91028	2.472000|2.472000	0.83506|0.83506	0.563000|0.563000	0.77884|0.77884	GCA|CGC	ARMC9	-	superfamily_ARM-type_fold		0.532	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC9	HGNC	protein_coding	OTTHUMT00000256966.3	G	NM_025139		232141480	+1	no_errors	ENST00000349938	ensembl	human	known	70_37	missense	SNP	1.000	A
BLOC1S5	63915	genome.wustl.edu	37	6	8015405	8015406	+	3'UTR	INS	-	-	TT	rs397765395|rs76544381|rs3832427	byFrequency	TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr6:8015405_8015406insTT	ENST00000397457.2	-	0	1077_1078				BLOC1S5_ENST00000475998.1_5'UTR|TXNDC5_ENST00000539054.1_Intron|BLOC1S5-TXNDC5_ENST00000439343.2_Intron|BLOC1S5_ENST00000543936.1_3'UTR	NM_001199323.1|NM_201280.2	NP_001186252.1|NP_958437.1	Q8TDH9	BL1S5_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 5, muted						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuron projection development (GO:0031175)|otolith morphogenesis (GO:0032474)|positive regulation of pigment cell differentiation (GO:0050942)	BLOC-1 complex (GO:0031083)|transport vesicle (GO:0030133)											GGACAGCTGGCTTTTTTTTTTG	0.46																																																	0																																										SO:0001624	3_prime_UTR_variant	63915			AF426434	CCDS4506.1, CCDS75394.1	6p25.1-p24.3	2012-08-01	2012-08-01	2012-08-01		ENSG00000188428		"""Biogenesis of lysosomal organelles complex-1 subunits"""	18561	protein-coding gene	gene with protein product		607289	"""muted homolog (mouse)"""	MUTED		11912185	Standard	NM_001199322		Approved	MU, dJ303A1.3		Q8TDH9	OTTHUMG00000014220	ENST00000397457.2:c.*477->AA	6.37:g.8015414_8015415dupTT			B4DVM2|Q0VDJ6|Q0VDJ7|Q5THS1|Q68D56|Q8N5F9|Q9NU16	RNA	INS	-	NULL	ENST00000397457.2	37	NULL	CCDS4506.1	6																																																																																			BLOC1S5	-	-		0.460	BLOC1S5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLOC1S5	HGNC	protein_coding	OTTHUMT00000039797.2	-	NM_201280		8015406	-1	no_errors	ENST00000475998	ensembl	human	known	70_37	rna	INS	0.003:0.000	TT
CCDC43	124808	genome.wustl.edu	37	17	42755659	42755659	+	3'UTR	DEL	A	A	-	rs79061587|rs200792287		TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr17:42755659delA	ENST00000315286.8	-	0	1248				RP11-1072C15.4_ENST00000591628.1_RNA|C17orf104_ENST00000588805.1_3'UTR|CCDC43_ENST00000588210.1_3'UTR|CCDC43_ENST00000457422.2_3'UTR	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43											lung(2)	2		Prostate(33;0.0322)				TGAAACTTTCAAAAAAAAAAA	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	284071			AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.*565T>-	17.37:g.42755659delA			C9JVK9	RNA	DEL	-	NULL	ENST00000315286.8	37	NULL	CCDS45704.1	17																																																																																			C17orf104	-	-		0.363	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	C17orf104	HGNC	protein_coding	OTTHUMT00000457812.1	A	NM_144609		42755659	+1	no_errors	ENST00000588805	ensembl	human	known	70_37	rna	DEL	0.000	-
CAPSL	133690	genome.wustl.edu	37	5	35921161	35921161	+	Missense_Mutation	SNP	G	G	A	rs200635899		TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr5:35921161G>A	ENST00000397367.2	-	2	188	c.62C>T	c.(61-63)aCg>aTg	p.T21M	CAPSL_ENST00000397366.1_Missense_Mutation_p.T21M|CAPSL_ENST00000514524.1_Missense_Mutation_p.T21M	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	21						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GTCGGTGGCCGTGGTGAGCTT	0.597																																																	0								G	MET/THR,MET/THR	0,4406		0,0,2203	110.0	95.0	100.0		62,62	1.5	0.6	5		100	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CAPSL	NM_144647.3,NM_001042625.1	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	21/209,21/209	35921161	1,13005	2203	4300	6503	SO:0001583	missense	133690			BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.62C>T	5.37:g.35921161G>A	ENSP00000380524:p.Thr21Met			Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.T21M	ENST00000397367.2	37	c.62	CCDS3912.2	5	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374468	0.24857	0.0	1.16E-4	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	D;D;D;D	0.83673	-1.64;-1.64;-1.74;-1.75	4.8	1.52	0.23074	.	0.640249	0.16352	N	0.218200	T	0.71230	0.3315	L	0.40543	1.245	0.09310	N	1	B	0.31290	0.318	B	0.23716	0.048	T	0.59621	-0.7420	10	0.42905	T	0.14	-4.8281	7.4911	0.27462	0.0906:0.0:0.5305:0.379	.	21	Q8WWF8	CAPSL_HUMAN	M	21	ENSP00000380524:T21M;ENSP00000380523:T21M;ENSP00000424806:T21M;ENSP00000421018:T21M	ENSP00000380523:T21M	T	-	2	0	CAPSL	35956918	0.072000	0.21174	0.593000	0.28771	0.822000	0.46500	0.784000	0.26816	0.443000	0.26582	0.563000	0.77884	ACG	CAPSL	-	NULL		0.597	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPSL	HGNC	protein_coding	OTTHUMT00000253772.2	G	NM_144647		35921161	-1	no_errors	ENST00000397366	ensembl	human	known	70_37	missense	SNP	0.000	A
CCR4	1233	genome.wustl.edu	37	3	32994926	32994926	+	Silent	SNP	G	G	A			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr3:32994926G>A	ENST00000330953.5	+	2	180	c.12G>A	c.(10-12)acG>acA	p.T4T		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	4					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGAACCCCACGGATATAGCAG	0.468																																																	0													62.0	61.0	61.0					3																	32994926		2203	4300	6503	SO:0001819	synonymous_variant	1233			X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.12G>A	3.37:g.32994926G>A			Q9ULY6|Q9ULY7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt	p.T4	ENST00000330953.5	37	c.12	CCDS2656.1	3																																																																																			CCR4	-	NULL		0.468	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR4	HGNC	protein_coding	OTTHUMT00000253252.2	G			32994926	+1	no_errors	ENST00000330953	ensembl	human	known	70_37	silent	SNP	0.003	A
CD14	929	genome.wustl.edu	37	5	140011843	140011843	+	Silent	SNP	G	G	A			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr5:140011843G>A	ENST00000302014.6	-	2	1355	c.726C>T	c.(724-726)gcC>gcT	p.A242A	CD14_ENST00000401743.2_Silent_p.A242A	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	242					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCAGTGCGGCGCACACGC	0.647																																																	0													31.0	35.0	34.0					5																	140011843		2199	4291	6490	SO:0001819	synonymous_variant	929				CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.726C>T	5.37:g.140011843G>A			Q53XT5|Q96FR6|Q96L99|Q9UNS3	Silent	SNP	pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14	p.A242	ENST00000302014.6	37	c.726	CCDS4232.1	5																																																																																			CD14	-	pirsf_Monocyte_diff_Ag_CD14		0.647	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD14	HGNC	protein_coding	OTTHUMT00000251681.2	G	NM_000591		140011843	-1	no_errors	ENST00000302014	ensembl	human	known	70_37	silent	SNP	0.000	A
CYB561D1	284613	genome.wustl.edu	37	1	110038388	110038388	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr1:110038388G>T	ENST00000420578.2	+	3	237	c.197G>T	c.(196-198)tGc>tTc	p.C66F	CYB561D1_ENST00000527072.1_Silent_p.L53L|CYB561D1_ENST00000393709.3_Missense_Mutation_p.C9F|CYB561D1_ENST00000533024.1_Missense_Mutation_p.A22S|CYB561D1_ENST00000369868.3_Missense_Mutation_p.C88F|CYB561D1_ENST00000528785.1_Missense_Mutation_p.C66F|CYB561D1_ENST00000310611.4_Missense_Mutation_p.A101S|CYB561D1_ENST00000496961.1_3'UTR|CYB561D1_ENST00000430195.2_Silent_p.L126L			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	66	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTCTGCCTCTGCATGGCTGAA	0.532																																																	0													185.0	183.0	183.0					1																	110038388		2203	4300	6503	SO:0001583	missense	284613			AK096354	CCDS800.1, CCDS44188.1, CCDS44189.1, CCDS44190.1, CCDS44191.1	1p13.2	2013-03-14	2013-03-14		ENSG00000174151	ENSG00000174151		"""Cytochrome b genes"""	26804	protein-coding gene	gene with protein product			"""cytochrome b-561 domain containing 1"""			23249217	Standard	NM_182580		Approved	FLJ39035, FLJ44753	uc010ovo.2	Q8N8Q1	OTTHUMG00000011051	ENST00000420578.2:c.197G>T	1.37:g.110038388G>T	ENSP00000413530:p.Cys66Phe		B4DH97|E9PCM8|Q52M36|Q5T6C2|Q5T6C3	Missense_Mutation	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.C88F	ENST00000420578.2	37	c.263	CCDS800.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.48|15.48	2.846950|2.846950	0.51164|0.51164	.|.	.|.	ENSG00000174151|ENSG00000174151	ENST00000533024;ENST00000310611|ENST00000393709;ENST00000420578;ENST00000528785;ENST00000369868	.|T;T;T;T	.|0.40225	.|1.04;1.04;1.04;1.04	5.25|5.25	4.33|4.33	0.51752|0.51752	.|Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	.|0.051095	.|0.85682	.|D	.|0.000000	T|T	0.49898|0.49898	0.1584|0.1584	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|D;B;B;B	0.33940|0.71674	0.433|0.998;0.0;0.0;0.001	B|D;B;B;B	0.26310|0.65443	0.068|0.935;0.004;0.001;0.002	T|T	0.53507|0.53507	-0.8429|-0.8429	7|9	0.87932|0.46703	D|T	0|0.11	-16.9498|-16.9498	12.5376|12.5376	0.56150|0.56150	0.0:0.0:0.833:0.167|0.0:0.0:0.833:0.167	.|.	101|88;66;9;28	Q8N8Q1-2|Q8N8Q1-3;Q8N8Q1;E9PCM8;Q6ZQS1	.|.;C56D1_HUMAN;.;.	S|F	22;101|9;66;66;88	.|ENSP00000377312:C9F;ENSP00000413530:C66F;ENSP00000434344:C66F;ENSP00000358884:C88F	ENSP00000309324:A101S|ENSP00000358884:C88F	A|C	+|+	1|2	0|0	CYB561D1|CYB561D1	109839911|109839911	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	4.248000|4.248000	0.58760|0.58760	1.426000|1.426000	0.47256|0.47256	-0.324000|-0.324000	0.08512|0.08512	GCA|TGC	CYB561D1	-	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM		0.532	CYB561D1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYB561D1	HGNC	protein_coding	OTTHUMT00000030384.1	G	NM_182580		110038388	+1	no_errors	ENST00000369868	ensembl	human	known	70_37	missense	SNP	1.000	T
DIMT1	27292	genome.wustl.edu	37	5	61688793	61688793	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr5:61688793T>G	ENST00000199320.4	-	9	848	c.688A>C	c.(688-690)Acc>Ccc	p.T230P	DIMT1_ENST00000506390.1_Missense_Mutation_p.T230P|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	230						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										CTAACAAAGGTTATCCTTACT	0.343																																																	0													140.0	133.0	135.0					5																	61688793		2202	4300	6502	SO:0001583	missense	27292			AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"""DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"""	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.688A>C	5.37:g.61688793T>G	ENSP00000199320:p.Thr230Pro		O76025|Q9BU77|Q9UES1	Missense_Mutation	SNP	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase	p.T230P	ENST00000199320.4	37	c.688	CCDS3981.1	5	.	.	.	.	.	.	.	.	.	.	T	20.3	3.972658	0.74246	.	.	ENSG00000086189	ENST00000199320;ENST00000506390	T;T	0.30182	1.54;1.54	5.68	5.68	0.88126	.	0.045024	0.85682	D	0.000000	T	0.30696	0.0773	L	0.40543	1.245	0.36045	D	0.840365	P	0.41475	0.751	P	0.46850	0.529	T	0.43442	-0.9391	10	0.72032	D	0.01	-3.3698	6.3276	0.21253	0.0:0.1924:0.0:0.8076	.	230	Q9UNQ2	DIM1_HUMAN	P	230	ENSP00000199320:T230P;ENSP00000421754:T230P	ENSP00000199320:T230P	T	-	1	0	DIMT1L	61724550	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.944000	0.56629	2.296000	0.77279	0.482000	0.46254	ACC	DIMT1	-	pfam_rRNA_Ade_methylase_transferase,tigrfam_rRNA_adenine_dimethylase		0.343	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIMT1	HGNC	protein_coding	OTTHUMT00000253967.1	T	NM_014473		61688793	-1	no_errors	ENST00000199320	ensembl	human	known	70_37	missense	SNP	1.000	G
DOPEY1	23033	genome.wustl.edu	37	6	83878179	83878180	+	3'UTR	INS	-	-	T			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr6:83878179_83878180insT	ENST00000349129.2	+	0	7951_7952				PGM3_ENST00000513973.1_3'UTR|DOPEY1_ENST00000484282.1_3'UTR|PGM3_ENST00000512866.1_Intron	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1						protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TACACTACCCATTTTTTTTTTC	0.337																																																	0																																										SO:0001624	3_prime_UTR_variant	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.*294->T	6.37:g.83878189_83878189dupT			Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	RNA	INS	-	NULL	ENST00000349129.2	37	NULL	CCDS4996.1	6																																																																																			DOPEY1	-	-		0.337	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	-	NM_015018		83878180	+1	no_errors	ENST00000484282	ensembl	human	known	70_37	rna	INS	0.998:1.000	T
CTD-2090I13.1	0	genome.wustl.edu	37	1	227618721	227618722	+	lincRNA	INS	-	-	A	rs71180749	byFrequency	TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr1:227618721_227618722insA	ENST00000445817.1	+	0	1956_1957																											GTTTATATACCAAAAAAAAAAA	0.436													|||unknown(HR)	1428	0.285144	0.3336	0.2435	5008	,	,		16917	0.37		0.2584	False		,,,				2504	0.1892																0																																												0																															1.37:g.227618732_227618732dupA				RNA	INS	-	NULL	ENST00000445817.1	37	NULL		1																																																																																			CTD-2090I13.1	-	-		0.436	CTD-2090I13.1-001	KNOWN	basic	lincRNA	ENSG00000234277	Clone_based_vega_gene	lincRNA	OTTHUMT00000091688.1	-			227618722	+1	no_errors	ENST00000445817	ensembl	human	known	70_37	rna	INS	0.127:0.163	A
FBXW10	10517	genome.wustl.edu	37	17	18682026	18682026	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr17:18682026C>A	ENST00000395665.4	+	14	2795	c.2574C>A	c.(2572-2574)ttC>ttA	p.F858L	FBXW10_ENST00000308799.4_Missense_Mutation_p.F867L|TVP23B_ENST00000307767.8_5'Flank|FBXW10_ENST00000301938.4_Missense_Mutation_p.F805L|TVP23B_ENST00000476139.1_5'Flank|TVP23B_ENST00000574226.1_5'Flank|FBXW10_ENST00000395667.1_Missense_Mutation_p.F857L			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	858										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCTTGAATTTCAAAGGAAAAT	0.438																																																	0													27.0	30.0	29.0					17																	18682026		2188	4271	6459	SO:0001583	missense	10517			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2574C>A	17.37:g.18682026C>A	ENSP00000379025:p.Phe858Leu		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.F867L	ENST00000395665.4	37	c.2601	CCDS11199.3	17	.	.	.	.	.	.	.	.	.	.	C	0.617	-0.822496	0.02755	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.55234	0.55;0.65;0.53;0.66	3.89	-1.6	0.08426	.	.	.	.	.	T	0.28732	0.0712	N	0.16602	0.42	0.09310	N	1	B;B;B;B	0.11235	0.004;0.001;0.002;0.001	B;B;B;B	0.13407	0.009;0.003;0.004;0.003	T	0.25745	-1.0123	9	0.11485	T	0.65	.	6.78	0.23640	0.3063:0.4215:0.2723:0.0	.	805;867;858;857	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	L	857;867;805;858	ENSP00000379026:F857L;ENSP00000310382:F867L;ENSP00000306937:F805L;ENSP00000379025:F858L	ENSP00000306937:F805L	F	+	3	2	FBXW10	18622751	0.000000	0.05858	0.939000	0.37840	0.796000	0.44982	-0.983000	0.03759	-0.048000	0.13401	0.411000	0.27672	TTC	FBXW10	-	NULL		0.438	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	HGNC	protein_coding	OTTHUMT00000313531.2	C	NM_031456		18682026	+1	no_errors	ENST00000308799	ensembl	human	known	70_37	missense	SNP	0.080	A
GNL1	2794	genome.wustl.edu	37	6	30514892	30514892	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr6:30514892C>T	ENST00000376621.3	-	10	2408	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	480					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AACTCACCTTCACAGATGTCC	0.622																																																	0													103.0	108.0	106.0					6																	30514892		1511	2709	4220	SO:0001583	missense	2794				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1438G>A	6.37:g.30514892C>T	ENSP00000365806:p.Glu480Lys		B0S838|Q96CT5	Missense_Mutation	SNP	pfam_GTP_binding_domain	p.E480K	ENST00000376621.3	37	c.1438	CCDS4680.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.662575	0.96734	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.51325	0.71	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.73430	2.235	0.80722	D	1	D;D;B	0.67145	0.996;0.996;0.322	D;P;B	0.65684	0.937;0.847;0.054	T	0.52034	-0.8629	10	0.12766	T	0.61	.	15.3078	0.74008	0.0:1.0:0.0:0.0	.	478;277;480	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	K	480;302;277	ENSP00000365806:E480K	ENSP00000365806:E480K	E	-	1	0	GNL1	30622871	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.128000	0.71650	2.592000	0.87571	0.555000	0.69702	GAA	GNL1	-	NULL		0.622	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL1	HGNC	protein_coding	OTTHUMT00000076241.2	C			30514892	-1	no_errors	ENST00000376621	ensembl	human	known	70_37	missense	SNP	1.000	T
GOLGA8M	653720	genome.wustl.edu	37	15	28951305	28951305	+	Silent	SNP	T	T	C			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr15:28951305T>C	ENST00000563027.1	-	11	830	c.831A>G	c.(829-831)gtA>gtG	p.V277V	GOLGA8M_ENST00000340249.3_Silent_p.V196V|RN7SL719P_ENST00000487967.2_RNA					golgin A8 family, member M																		CCAGCTTCTCTACCCGACGCA	0.552																																																	0																																										SO:0001819	synonymous_variant	653720				CCDS61572.1	15q13.1	2014-03-21			ENSG00000188626	ENSG00000188626			44404	protein-coding gene	gene with protein product							Standard	NM_001282468		Approved			H3BSY2	OTTHUMG00000176338	ENST00000563027.1:c.831A>G	15.37:g.28951305T>C				Silent	SNP	NULL	p.V196	ENST00000563027.1	37	c.588		15																																																																																			GOLGA8M	-	NULL		0.552	GOLGA8M-001	NOVEL	basic|appris_candidate_longest	protein_coding	GOLGA8M	HGNC	protein_coding	OTTHUMT00000431777.1	T			28951305	-1	no_errors	ENST00000340249	ensembl	human	known	70_37	silent	SNP	0.572	C
HAMP	57817	genome.wustl.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-	rs373178250		TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)ctcdel	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.64																																																	0																																										SO:0001651	inframe_deletion	57817			AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.40_42delCTC	19.37:g.35773529_35773531delCTC	ENSP00000471894:p.Leu18del		Q1HE14|Q9BY68	In_Frame_Del	DEL	pfam_Hepcidin	p.L17in_frame_del	ENST00000598398.1	37	c.40_42	CCDS12454.1	19																																																																																			HAMP	-	pfam_Hepcidin		0.640	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAMP	HGNC	protein_coding	OTTHUMT00000466067.1	CTC	NM_021175		35773522	+1	no_errors	ENST00000222304	ensembl	human	known	70_37	in_frame_del	DEL	0.987:0.987:0.959	-
HEY1	23462	genome.wustl.edu	37	8	80677293	80677294	+	3'UTR	INS	-	-	A	rs566234010		TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr8:80677293_80677294insA	ENST00000354724.3	-	0	1243_1244				HEY1_ENST00000435063.2_5'UTR|HEY1_ENST00000523976.1_3'UTR|HEY1_ENST00000337919.5_3'UTR	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1						angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			CTTTAGTCTTTAAAAAAAAAAT	0.287			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		8	8q21	23462	hairy/enhancer-of-split related with YRPW motif 1		M	0																																										SO:0001624	3_prime_UTR_variant	23462			AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.*130->T	8.37:g.80677303_80677303dupA		1200	B2R883|Q5TZS3|Q8NAM2|Q9NYP4	RNA	INS	-	NULL	ENST00000354724.3	37	NULL	CCDS6225.1	8																																																																																			HEY1	-	-		0.287	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HEY1	HGNC	protein_coding	OTTHUMT00000379516.1	-	NM_012258		80677294	-1	no_errors	ENST00000435063	ensembl	human	known	70_37	rna	INS	0.939:0.976	A
ID4	3400	genome.wustl.edu	37	6	19838106	19838108	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr6:19838106_19838108delGCG	ENST00000378700.3	+	1	490_492	c.121_123delGCG	c.(121-123)gcgdel	p.A48del	RP1-167F1.2_ENST00000432171.2_RNA	NM_001546.3	NP_001537.1	P47928	ID4_HUMAN	inhibitor of DNA binding 4, dominant negative helix-loop-helix protein	48	Poly-Ala.				cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex neuron differentiation (GO:0021895)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|hippocampus development (GO:0021766)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast proliferation (GO:0007405)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(1)	1	Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12)		OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621)			CTCCGCAGCCgcggcggcggcgg	0.788																																					Esophageal Squamous(13;105 518 19978 28644 46870)												0										0,152		0,0,76						-2.7	0.9			1	16,642		6,4,319	no	coding	ID4	NM_001546.2		6,4,395	A1A1,A1R,RR		2.4316,0.0,1.9753				16,794				SO:0001651	inframe_deletion	3400			U16153	CCDS4544.1	6p22.3	2013-05-21			ENSG00000172201	ENSG00000172201		"""Basic helix-loop-helix proteins"""	5363	protein-coding gene	gene with protein product		600581				7665172	Standard	NM_001546		Approved	bHLHb27	uc003ncw.4	P47928	OTTHUMG00000014333	ENST00000378700.3:c.121_123delGCG	6.37:g.19838115_19838117delGCG	ENSP00000367972:p.Ala48del		Q13005	In_Frame_Del	DEL	pfam_HLH_dom,superfamily_HLH_dom,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_HLH_dom,pfscan_HLH_dom	p.A44in_frame_del	ENST00000378700.3	37	c.121_123	CCDS4544.1	6																																																																																			ID4	-	superfamily_Trp_syn_b_sub_like_PLP_eny_SF		0.788	ID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ID4	HGNC	protein_coding	OTTHUMT00000039979.1	GCG	NM_001546		19838108	+1	no_errors	ENST00000378700	ensembl	human	known	70_37	in_frame_del	DEL	0.988:0.989:0.984	-
LRCH2	57631	genome.wustl.edu	37	X	114399998	114399998	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chrX:114399998C>T	ENST00000317135.8	-	10	1355	c.1325G>A	c.(1324-1326)cGg>cAg	p.R442Q	LRCH2_ENST00000538422.1_Missense_Mutation_p.R442Q	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	442										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TTCATTTTTCCGAGATTTTTC	0.264																																																	0													63.0	49.0	53.0					X																	114399998		1346	3087	4433	SO:0001583	missense	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.1325G>A	X.37:g.114399998C>T	ENSP00000325091:p.Arg442Gln		F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.R442Q	ENST00000317135.8	37	c.1325	CCDS48155.1	X	.	.	.	.	.	.	.	.	.	.	C	8.086	0.773395	0.16051	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	T;T	0.00717	5.81;5.79	5.19	4.01	0.46588	.	0.348109	0.26867	N	0.022096	T	0.00356	0.0011	N	0.00707	-1.245	0.20196	N	0.99993	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.44772	-0.9306	10	0.20519	T	0.43	-0.5491	8.2311	0.31599	0.0:0.0946:0.0:0.9054	.	442;442	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	Q	442	ENSP00000325091:R442Q;ENSP00000439366:R442Q	ENSP00000325091:R442Q	R	-	2	0	LRCH2	114306254	1.000000	0.71417	0.993000	0.49108	0.457000	0.32468	3.413000	0.52686	0.704000	0.31869	-0.460000	0.05396	CGG	LRCH2	-	superfamily_NA-bd_OB-fold-like		0.264	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	C	NM_020871		114399998	-1	no_errors	ENST00000317135	ensembl	human	known	70_37	missense	SNP	1.000	T
MICA	100507436	genome.wustl.edu	37	6	31380161	31380161	+	Frame_Shift_Del	DEL	G	G	-	rs41293539|rs547446871|rs138201170	byFrequency	TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr6:31380161delG	ENST00000449934.2	+	5	1006	c.952delG	c.(952-954)ggcfs	p.G318fs	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TGTTGCTGCTGGCTGCTGCTA	0.453													?|GG|G|unsure	1026	0.204872	0.0537	0.2824	5008	,	,		19280	0.3869		0.1272	False		,,,				2504	0.2464																0													218.0	178.0	190.0					6																	31380161		692	1576	2268	SO:0001589	frameshift_variant	100507436			L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"""Immunoglobulin superfamily / C1-set domain containing"""	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.952delG	6.37:g.31380161delG	ENSP00000413079:p.Gly318fs			Frame_Shift_Del	DEL	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.G318fs	ENST00000449934.2	37	c.952	CCDS56412.1	6																																																																																			MICA	-	NULL		0.453	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	MICA	HGNC	protein_coding	OTTHUMT00000076101.7	G	NM_001177519		31380161	+1	no_errors	ENST00000364810	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-
MT-CO1	4512	genome.wustl.edu	37	M	3047	3047	+	5'Flank	SNP	G	G	A			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chrM:3047G>A	ENST00000361624.2	+	0	0				MT-TW_ENST00000387382.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TF_ENST00000387314.1_RNA|MT-TM_ENST00000387377.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CGTTTGTTCAACGATTAAAGT	0.433																																																	0																																										SO:0001631	upstream_gene_variant	100616263					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3047G>A	Exception_encountered		Q34770	RNA	SNP	-	NULL	ENST00000361624.2	37	NULL		MT																																																																																			MIR4485	-	-		0.433	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MIR4485	HGNC	protein_coding		G	YP_003024028		3047	+1	no_errors	ENST00000387347	ensembl	human	known	70_37	rna	SNP	NULL	A
NAV2	89797	genome.wustl.edu	37	11	20113786	20113786	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr11:20113786G>T	ENST00000396087.3	+	31	5963	c.5864G>T	c.(5863-5865)cGg>cTg	p.R1955L	NAV2_ENST00000533917.1_Missense_Mutation_p.R960L|NAV2_ENST00000396085.1_Missense_Mutation_p.R1899L|NAV2_ENST00000540292.1_Missense_Mutation_p.R1886L|NAV2_ENST00000311043.8_Missense_Mutation_p.R960L|NAV2_ENST00000527559.2_Missense_Mutation_p.R1884L|NAV2_ENST00000349880.4_Missense_Mutation_p.R1896L|NAV2_ENST00000360655.4_Missense_Mutation_p.R1832L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1955					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.R1955L(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAGAATGATCGGCTGAAGTCA	0.522																																																	1	Substitution - Missense(1)	lung(1)											74.0	78.0	76.0					11																	20113786		2203	4300	6503	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5864G>T	11.37:g.20113786G>T	ENSP00000379396:p.Arg1955Leu		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R1955L	ENST00000396087.3	37	c.5864	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.142757	0.94560	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	T;T;T;T;T;T;T;T	0.41400	1.0;1.12;1.09;1.16;1.05;1.05;2.5;2.5	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000012	T	0.66005	0.2746	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	T	0.60276	-0.7295	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1899;960;1896;1832	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	L	1832;1899;1896;1955;1884;1886;960;960	ENSP00000353871:R1832L;ENSP00000379394:R1899L;ENSP00000309577:R1896L;ENSP00000379396:R1955L;ENSP00000435395:R1884L;ENSP00000443489:R1886L;ENSP00000437316:R960L;ENSP00000312169:R960L	.	R	+	2	0	NAV2	20070362	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CGG	NAV2	-	NULL		0.522	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	G	NM_145117		20113786	+1	no_errors	ENST00000396087	ensembl	human	known	70_37	missense	SNP	1.000	T
NBPF1	55672	genome.wustl.edu	37	1	16889985	16889985	+	3'UTR	SNP	T	T	C	rs6603880	byFrequency	TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr1:16889985T>C	ENST00000430580.2	-	0	4760					NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATCCCTCCTGTGTTAAAGATG	0.428																																																	0																																										SO:0001624	3_prime_UTR_variant	55672			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.*453A>G	1.37:g.16889985T>C			Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-		0.428	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	T	NM_017940		16889985	-1	no_errors	ENST00000401007	ensembl	human	known	70_37	rna	SNP	0.040	C
ORAI3	93129	genome.wustl.edu	37	16	30964697	30964697	+	Silent	SNP	C	C	T			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr16:30964697C>T	ENST00000318663.4	+	2	644	c.420C>T	c.(418-420)caC>caT	p.H140H	ORAI3_ENST00000566237.1_Silent_p.H140H|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	140					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						AGTCGCCACACCAGAGACTGC	0.572											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													113.0	114.0	114.0					16																	30964697		2197	4300	6497	SO:0001819	synonymous_variant	93129			BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.420C>T	16.37:g.30964697C>T		821	Q96BI8	Silent	SNP	pfam_CRAC_channel	p.H140	ENST00000318663.4	37	c.420	CCDS10697.1	16																																																																																			ORAI3	-	pfam_CRAC_channel		0.572	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORAI3	HGNC	protein_coding	OTTHUMT00000255545.20	C	NM_152288		30964697	+1	no_errors	ENST00000318663	ensembl	human	known	70_37	silent	SNP	1.000	T
PAGE4	9506	genome.wustl.edu	37	X	49597149	49597149	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chrX:49597149G>T	ENST00000218068.6	+	4	267	c.188G>T	c.(187-189)tGc>tTc	p.C63F	PAGE4_ENST00000376141.1_Missense_Mutation_p.C63F	NM_007003.2	NP_008934.1	O60829	PAGE4_HUMAN	P antigen family, member 4 (prostate associated)	63												Ovarian(276;0.236)					GAAGGTGATTGCCAGGAAATG	0.343																																																	0													77.0	63.0	68.0					X																	49597149		2203	4300	6503	SO:0001583	missense	9506			AF275258	CCDS35274.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000101951	ENSG00000101951			4108	protein-coding gene	gene with protein product		300287	"""G antigen, family C, 1"""	GAGEC1		9724777	Standard	NM_007003		Approved	PAGE-4, CT16.7	uc004don.1	O60829	OTTHUMG00000024155	ENST00000218068.6:c.188G>T	X.37:g.49597149G>T	ENSP00000218068:p.Cys63Phe		B2R529|D3DX68|Q6IBI1	Missense_Mutation	SNP	pfam_GAGE	p.C63F	ENST00000218068.6	37	c.188	CCDS35274.1	X	.	.	.	.	.	.	.	.	.	.	G	3.502	-0.101609	0.06967	.	.	ENSG00000101951	ENST00000376141;ENST00000218068	T;T	0.09073	3.02;3.02	3.08	-6.17	0.02091	.	.	.	.	.	T	0.03520	0.0101	N	0.22421	0.69	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.42699	-0.9436	9	0.20046	T	0.44	.	0.1991	0.00143	0.3273:0.251:0.1682:0.2536	.	63	O60829	GAGC1_HUMAN	F	63	ENSP00000365311:C63F;ENSP00000218068:C63F	ENSP00000218068:C63F	C	+	2	0	PAGE4	49483887	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.354000	0.07681	-2.356000	0.00613	-1.169000	0.01745	TGC	PAGE4	-	pfam_GAGE		0.343	PAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAGE4	HGNC	protein_coding	OTTHUMT00000060839.1	G			49597149	+1	no_errors	ENST00000218068	ensembl	human	known	70_37	missense	SNP	0.000	T
PCLO	27445	genome.wustl.edu	37	7	82544797	82544797	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr7:82544797G>A	ENST00000333891.9	-	7	12842	c.12505C>T	c.(12505-12507)Ctc>Ttc	p.L4169F	PCLO_ENST00000423517.2_Missense_Mutation_p.L4169F|PCLO_ENST00000437081.1_Missense_Mutation_p.L889F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAAGTGTGAGTCTACTGATG	0.378																																																	0													143.0	131.0	135.0					7																	82544797		1888	4117	6005	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12505C>T	7.37:g.82544797G>A	ENSP00000334319:p.Leu4169Phe			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.L4169F	ENST00000333891.9	37	c.12505	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092347	0.55968	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.19806	2.12;2.12	5.73	5.73	0.89815	.	.	.	.	.	T	0.48352	0.1495	M	0.65498	2.005	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.946;0.995;0.995	T	0.42582	-0.9443	9	0.87932	D	0	.	19.9748	0.97299	0.0:0.0:1.0:0.0	.	4100;4169;4169	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	F	4169;4169;889	ENSP00000334319:L4169F;ENSP00000388393:L4169F	ENSP00000334319:L4169F	L	-	1	0	PCLO	82382733	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.573000	0.74009	2.716000	0.92895	0.552000	0.68991	CTC	PCLO	-	NULL		0.378	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	G	NM_014510		82544797	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	1.000	A
PHKA2	5256	genome.wustl.edu	37	X	18959775	18959775	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chrX:18959775G>T	ENST00000379942.4	-	8	1401	c.736C>A	c.(736-738)Ctg>Atg	p.L246M		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	246					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GCTCTTGGCAGCATGGAGAAC	0.458																																																	0													81.0	74.0	76.0					X																	18959775		2203	4300	6503	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.736C>A	X.37:g.18959775G>T	ENSP00000369274:p.Leu246Met		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.L246M	ENST00000379942.4	37	c.736	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	g	17.67	3.447707	0.63178	.	.	ENSG00000044446	ENST00000379942	D	0.94092	-3.35	5.52	2.16	0.27623	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95454	0.8537	10	0.87932	D	0	-11.6085	8.9	0.35487	0.6208:0.0:0.3792:0.0	.	246	P46019	KPB2_HUMAN	M	246	ENSP00000369274:L246M	ENSP00000369274:L246M	L	-	1	2	PHKA2	18869696	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	0.749000	0.26320	-0.046000	0.13446	0.597000	0.82753	CTG	PHKA2	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.458	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	G	NM_000292		18959775	-1	no_errors	ENST00000379942	ensembl	human	known	70_37	missense	SNP	1.000	T
PLSCR5	389158	genome.wustl.edu	37	3	146318092	146318092	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr3:146318092G>C	ENST00000443512.1	-	2	1175	c.172C>G	c.(172-174)Cta>Gta	p.L58V	PLSCR5_ENST00000482567.1_Intron|PLSCR5_ENST00000492200.1_Missense_Mutation_p.L58V	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	58										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						AAATATTCTAGACCAGGAGGG	0.428																																																	0													35.0	35.0	35.0					3																	146318092		1822	4076	5898	SO:0001583	missense	389158			AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.172C>G	3.37:g.146318092G>C	ENSP00000390111:p.Leu58Val		B2RXK5	Missense_Mutation	SNP	pfam_Scramblase,superfamily_Tubby_C-like	p.L58V	ENST00000443512.1	37	c.172	CCDS46931.1	3	.	.	.	.	.	.	.	.	.	.	g	16.48	3.134344	0.56828	.	.	ENSG00000231213	ENST00000492200;ENST00000443512	T;T	0.29397	1.57;1.57	5.89	3.15	0.36227	.	.	.	.	.	T	0.65386	0.2686	H	0.98199	4.17	0.26979	N	0.965415	D	0.89917	1.0	D	0.97110	1.0	T	0.58951	-0.7545	9	0.72032	D	0.01	-6.9742	4.7237	0.12931	0.2298:0.1661:0.6041:0.0	.	58	A0PG75	PLS5_HUMAN	V	58	ENSP00000417184:L58V;ENSP00000390111:L58V	ENSP00000390111:L58V	L	-	1	2	PLSCR5	147800782	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	2.478000	0.45189	0.843000	0.35070	-0.126000	0.14955	CTA	PLSCR5	-	pfam_Scramblase		0.428	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLSCR5	HGNC	protein_coding	OTTHUMT00000355365.1	G	XM_371670		146318092	-1	no_errors	ENST00000443512	ensembl	human	known	70_37	missense	SNP	1.000	C
PRAMEF22	653606	genome.wustl.edu	37	1	13038327	13038327	+	Silent	SNP	G	G	T	rs199598633		TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr1:13038327G>T	ENST00000376187.1	+	3	1392	c.1392G>T	c.(1390-1392)acG>acT	p.T464T	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	464					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						GCTGTGGCACGTCGCCCACTG	0.527																																																	0													1.0	1.0	1.0					1																	13038327		265	525	790	SO:0001819	synonymous_variant	653606					1p36.21	2013-01-17			ENSG00000204508			"""-"""	34393	protein-coding gene	gene with protein product							Standard	NM_001100631		Approved	PRAMEF3L	uc009vnq.1	A3QJZ6	OTTHUMG00000074726	ENST00000376187.1:c.1392G>T	1.37:g.13038327G>T			A6NMM3	Silent	SNP	NULL	p.T464	ENST00000376187.1	37	c.1392	CCDS41256.1	1																																																																																			PRAMEF22	-	NULL		0.527	PRAMEF22-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	PRAMEF22	HGNC	protein_coding	OTTHUMT00000158511.1	G	NM_001100631		13038327	+1	no_errors	ENST00000376187	ensembl	human	known	70_37	silent	SNP	0.000	T
PTPLA	9200	genome.wustl.edu	37	10	17646048	17646049	+	Splice_Site	INS	-	-	A	rs76004443		TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr10:17646048_17646049insA	ENST00000361271.3	-	2	295		c.e2-2			NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A						fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						ACCAACCACCTAAAAAAAAAAA	0.297																																																	0																																										SO:0001630	splice_region_variant	9200			AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.258-2->T	10.37:g.17646059_17646059dupA			B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Splice_Site	INS	-	e2-2	ENST00000361271.3	37	c.258-3_258-2	CCDS7121.1	10																																																																																			PTPLA	-	-		0.297	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLA	HGNC	protein_coding	OTTHUMT00000047046.1	-	NM_014241	Intron	17646049	-1	no_errors	ENST00000361271	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.005	A
PYROXD2	84795	genome.wustl.edu	37	10	100154958	100154958	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr10:100154958delC	ENST00000370575.4	-	8	828	c.780delG	c.(778-780)gggfs	p.G260fs	MIR1287_ENST00000408492.1_RNA|PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	260							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CTCACCCACTCCCCGGAGTGT	0.582																																																	0													96.0	93.0	94.0					10																	100154958		2203	4300	6503	SO:0001589	frameshift_variant	84795			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.780delG	10.37:g.100154958delC	ENSP00000359607:p.Gly260fs		D3DR61|Q5TAA9|Q9BRQ1	Frame_Shift_Del	DEL	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase	p.S261fs	ENST00000370575.4	37	c.780	CCDS7474.1	10																																																																																			PYROXD2	-	NULL		0.582	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD2	HGNC	protein_coding	OTTHUMT00000049782.2	C	NM_032709		100154958	-1	no_errors	ENST00000370575	ensembl	human	known	70_37	frame_shift_del	DEL	0.892	-
TBX22	50945	genome.wustl.edu	37	X	79277789	79277789	+	Silent	SNP	G	G	A			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chrX:79277789G>A	ENST00000373294.5	+	1	49	c.21G>A	c.(19-21)gcG>gcA	p.A7A	TBX22_ENST00000476373.1_3'UTR|TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000373296.3_Silent_p.A7A|TBX22_ENST00000373291.1_5'Flank	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	7					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GCTCTCGGGCGCGTGCCTTCT	0.597																																																	0													46.0	44.0	44.0					X																	79277789		2203	4300	6503	SO:0001819	synonymous_variant	50945			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.21G>A	X.37:g.79277789G>A			Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.A7	ENST00000373294.5	37	c.21	CCDS14445.1	X																																																																																			TBX22	-	NULL		0.597	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1	G	NM_016954		79277789	+1	no_errors	ENST00000373294	ensembl	human	known	70_37	silent	SNP	0.986	A
WBP1	23559	genome.wustl.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	-	C	rs547055147	byFrequency	TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr2:74687542_74687543insC	ENST00000233615.2	+	4	818_819	c.544_545insC	c.(544-546)gccfs	p.A182fs	WBP1_ENST00000393972.3_Frame_Shift_Ins_p.A216fs|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.A179fs|WBP1_ENST00000494741.1_3'UTR|MOGS_ENST00000462443.1_5'Flank	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	182							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													CCCCCCc|CCCCCCC|CCCCCCCC|insertion	4	0.000798722	0.0015	0.0	5008	,	,		17122	0.001		0.0	False		,,,				2504	0.001																0																																										SO:0001589	frameshift_variant	23559			U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.551dupC	2.37:g.74687549_74687549dupC	ENSP00000233615:p.Ala182fs		B2RE02|O95637	Frame_Shift_Ins	INS	pfam_Uncharacterised_WW-bd	p.H185fs	ENST00000233615.2	37	c.544_545	CCDS1943.1	2																																																																																			WBP1	-	NULL		0.604	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WBP1	HGNC	protein_coding	OTTHUMT00000252221.2	-	NM_012477		74687543	+1	no_errors	ENST00000233615	ensembl	human	known	70_37	frame_shift_ins	INS	0.963:0.962	C
YLPM1	56252	genome.wustl.edu	37	14	75283279	75283279	+	Missense_Mutation	SNP	G	G	T	rs200986063		TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr14:75283279G>T	ENST00000552421.1	+	12	3577	c.3453G>T	c.(3451-3453)aaG>aaT	p.K1151N	YLPM1_ENST00000325680.7_Missense_Mutation_p.K1857N|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	1662	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTTAGGATAAGGAGGTAGAAT	0.363																																																	0													58.0	54.0	55.0					14																	75283279		1823	4089	5912	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3453G>T	14.37:g.75283279G>T	ENSP00000447921:p.Lys1151Asn		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.K1857N	ENST00000552421.1	37	c.5571		14	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058237	0.55325	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000423680;ENST00000547879	T;T;T	0.47177	0.85;0.85;0.85	5.77	1.81	0.25067	.	0.000000	0.64402	D	0.000002	T	0.63022	0.2476	L	0.61036	1.89	0.80722	D	1	D;D	0.76494	0.978;0.999	D;D	0.80764	0.979;0.994	T	0.62353	-0.6872	10	0.87932	D	0	-12.9691	12.7231	0.57154	0.2557:0.0:0.7443:0.0	.	1662;1857	P49750-3;P49750-4	.;.	N	1151;1857;1570;266	ENSP00000447921:K1151N;ENSP00000324463:K1857N;ENSP00000448367:K266N	ENSP00000324463:K1857N	K	+	3	2	YLPM1	74353032	1.000000	0.71417	0.995000	0.50966	0.880000	0.50808	1.045000	0.30341	-0.127000	0.11661	-1.945000	0.00491	AAG	YLPM1	-	NULL		0.363	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404450.1	G	NM_019589		75283279	+1	no_errors	ENST00000325680	ensembl	human	known	70_37	missense	SNP	1.000	T
ZDHHC11	79844	genome.wustl.edu	37	5	712139	712139	+	Intron	SNP	T	T	A	rs111351502	byFrequency	TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr5:712139T>A	ENST00000424784.2	-	14	1931				ZDHHC11B_ENST00000508859.2_3'UTR|ZDHHC11B_ENST00000522356.1_5'UTR			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GCAGCCCATCTTCCTGGAGAT	0.562													t|||	2442	0.48762	0.5522	0.4683	5008	,	,		24038	0.5248		0.4911	False		,,,				2504	0.3722																0																																										SO:0001627	intron_variant	653082			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000424784.2:c.1237-1140A>T	5.37:g.712139T>A			Q6UWR9	RNA	SNP	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			ZDHHC11B	-	-		0.562	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	HGNC	protein_coding		T	NM_024786		712139	-1	no_errors	ENST00000522356	ensembl	human	known	70_37	rna	SNP	0.000	A
ZNF541	84215	genome.wustl.edu	37	19	48024549	48024549	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr19:48024549A>G	ENST00000391901.3	-	15	3972	c.3973T>C	c.(3973-3975)Tgg>Cgg	p.W1325R	ZNF541_ENST00000448976.1_Missense_Mutation_p.W1067R|ZNF541_ENST00000314121.4_Missense_Mutation_p.W1344R			Q9H0D2	ZN541_HUMAN	zinc finger protein 541	1325					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|lung(2)|prostate(1)|skin(1)	9						TTCACTGGCCACTTCACCCTG	0.592																																																	0													85.0	75.0	78.0					19																	48024549		692	1591	2283	SO:0001583	missense	84215			AL136846	CCDS46133.1, CCDS46133.2	19q13.33	2013-01-08			ENSG00000118156	ENSG00000118156		"""Zinc fingers, C2H2-type"""	25294	protein-coding gene	gene with protein product						11230166	Standard	NM_001277075		Approved	DKFZp434I1930	uc002phg.5	Q9H0D2	OTTHUMG00000141262	ENST00000391901.3:c.3973T>C	19.37:g.48024549A>G	ENSP00000375770:p.Trp1325Arg		Q8NDK8	Missense_Mutation	SNP	pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.W1344R	ENST00000391901.3	37	c.4030		19	.	.	.	.	.	.	.	.	.	.	A	19.35	3.811101	0.70797	.	.	ENSG00000118156	ENST00000391901;ENST00000314121;ENST00000448976	T;T;T	0.38722	1.16;1.12;1.3	5.96	4.89	0.63831	.	0.000000	0.51477	D	0.000086	T	0.47248	0.1435	N	0.19112	0.55	0.24505	N	0.994231	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.998	T	0.37033	-0.9723	10	0.87932	D	0	-25.632	10.768	0.46305	0.8412:0.1587:0.0:0.0	.	1344;1067;1325	Q9H0D2;Q9H0D2-2;Q9H0D2-3	ZN541_HUMAN;.;.	R	1325;1344;1067	ENSP00000375770:W1325R;ENSP00000313258:W1344R;ENSP00000410847:W1067R	ENSP00000313258:W1344R	W	-	1	0	ZNF541	52716361	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.052000	0.49893	2.285000	0.76669	0.533000	0.62120	TGG	ZNF541	-	NULL		0.592	ZNF541-001	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF541	HGNC	protein_coding	OTTHUMT00000280415.1	A	NM_032255		48024549	-1	no_errors	ENST00000314121	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF746	155061	genome.wustl.edu	37	7	149191319	149191319	+	Silent	SNP	C	C	T	rs75141970	byFrequency	TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr7:149191319C>T	ENST00000340622.3	-	2	580	c.300G>A	c.(298-300)ccG>ccA	p.P100P	ZNF746_ENST00000458143.2_Silent_p.P100P|ZNF746_ENST00000461958.2_Silent_p.P100P			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	100	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCTTGCTGCCCGGGGGCAGCC	0.667																																																	0													59.0	76.0	70.0					7																	149191319		2203	4300	6503	SO:0001819	synonymous_variant	155061			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.300G>A	7.37:g.149191319C>T			A8K6Z9|Q6ZRF9	Silent	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P100	ENST00000340622.3	37	c.300	CCDS5897.1	7																																																																																			ZNF746	-	pfscan_Krueppel-associated_box		0.667	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF746	HGNC	protein_coding	OTTHUMT00000352730.1	C	NM_152557		149191319	-1	no_errors	ENST00000458143	ensembl	human	known	70_37	silent	SNP	0.930	T
ZNF876P	642280	genome.wustl.edu	37	4	248428	248428	+	RNA	SNP	G	G	T			TCGA-C5-A7CM-01A-11D-A33O-09	TCGA-C5-A7CM-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f32f039-8e0a-47d1-b4c2-b5851689b030	51e9d5d1-a9e9-4e3b-ab09-b2621e159d87	g.chr4:248428G>T	ENST00000356347.3	+	0	1252					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ACAGTCCTCTGCACTGAATGA	0.378																																																	0																																												642280			BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.248428G>T				RNA	SNP	-	NULL	ENST00000356347.3	37	NULL		4																																																																																			ZNF876P	-	-		0.378	ZNF876P-001	KNOWN	basic	processed_transcript	ZNF876P	HGNC	pseudogene	OTTHUMT00000357870.2	G	NR_027481		248428	+1	no_errors	ENST00000356347	ensembl	human	known	70_37	rna	SNP	0.000	T
