#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ATP11A	23250	genome.wustl.edu	37	13	113512220	113512220	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr13:113512220C>T	ENST00000487903.1	+	21	2595	c.2507C>T	c.(2506-2508)gCg>gTg	p.A836V	ATP11A_ENST00000283558.8_Missense_Mutation_p.A836V|ATP11A_ENST00000375645.3_Missense_Mutation_p.A836V|ATP11A_ENST00000375630.2_Missense_Mutation_p.A836V			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	836					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATTCTGGAAGCGCACGTGGGC	0.493																																						dbGAP											0													160.0	146.0	151.0					13																	113512220		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2507C>T	13.37:g.113512220C>T	ENSP00000420387:p.Ala836Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXT2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.A836V	ENST00000487903.1	37	c.2507	CCDS32011.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.932259|4.932259	0.92389|0.92389	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166|ENST00000418678	D;D;D;D|.	0.87571|.	-2.27;-2.27;-2.27;-2.27|.	5.32|5.32	4.47|4.47	0.54385|0.54385	HAD-like domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88299|0.88299	0.6399|0.6399	H|H	0.97732|0.97732	4.065|4.065	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;1.0;1.0|.	P;D;D|.	0.79108|.	0.893;0.992;0.992|.	D|D	0.92835|0.92835	0.6283|0.6283	10|5	0.87932|.	D|.	0|.	.|.	16.5123|16.5123	0.84289|0.84289	0.0:0.8693:0.1307:0.0|0.0:0.8693:0.1307:0.0	.|.	836;836;836|.	E9PCW5;E9PEJ6;P98196|.	.;.;AT11A_HUMAN|.	V|C	836;836;836;836;277|811	ENSP00000420387:A836V;ENSP00000364781:A836V;ENSP00000364796:A836V;ENSP00000283558:A836V|.	ENSP00000283558:A836V|.	A|R	+|+	2|1	0|0	ATP11A|ATP11A	112560221|112560221	1.000000|1.000000	0.71417|0.71417	0.684000|0.684000	0.30055|0.30055	0.993000|0.993000	0.82548|0.82548	7.424000|7.424000	0.80242|0.80242	1.356000|1.356000	0.45884|0.45884	0.655000|0.655000	0.94253|0.94253	GCG|CGC	ATP11A	-	superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000068650		0.493	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	59	0.00	0	C	NM_015205		113512220	113512220	+1	no_errors	ENST00000375630	ensembl	human	known	69_37n	missense	78	29.09	32	SNP	1.000	T
B2M	567	genome.wustl.edu	37	15	45007801	45007801	+	Missense_Mutation	SNP	A	A	T			TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr15:45007801A>T	ENST00000558401.1	+	2	318	c.248A>T	c.(247-249)tAt>tTt	p.Y83F	B2M_ENST00000544417.1_Missense_Mutation_p.Y83F|B2M_ENST00000559916.1_Missense_Mutation_p.Y83F|B2M_ENST00000559220.1_Intron	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	83	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGGTCTTTCTATCTCTTGTAC	0.428																																						dbGAP											0													182.0	179.0	180.0					15																	45007801		2198	4298	6496	-	-	-	SO:0001583	missense	0			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.248A>T	15.37:g.45007801A>T	ENSP00000452780:p.Tyr83Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	p.Y83F	ENST00000558401.1	37	c.248	CCDS10113.1	15	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589118	0.66105	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.02656	4.21	6.03	6.03	0.97812	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.344654	0.33005	N	0.005395	T	0.14098	0.0341	M	0.76433	2.335	0.40570	D	0.981296	D;D	0.69078	0.997;0.994	D;D	0.73380	0.98;0.959	T	0.00134	-1.2008	10	0.72032	D	0.01	.	12.95	0.58394	1.0:0.0:0.0:0.0	.	83;83	F5H6I0;P61769	.;B2MG_HUMAN	F	83	ENSP00000437604:Y83F	ENSP00000340858:Y83F	Y	+	2	0	B2M	42795093	1.000000	0.71417	0.954000	0.39281	0.038000	0.13279	6.818000	0.75257	2.308000	0.77769	0.533000	0.62120	TAT	B2M	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000166710		0.428	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	B2M	HGNC	protein_coding	OTTHUMT00000254007.2	76	0.00	0	A	NM_004048		45007801	45007801	+1	no_errors	ENST00000544417	ensembl	human	known	69_37n	missense	82	19.61	20	SNP	0.989	T
C3	718	genome.wustl.edu	37	19	6712375	6712375	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr19:6712375G>C	ENST00000245907.6	-	11	1254	c.1162C>G	c.(1162-1164)Ccc>Gcc	p.P388A		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	388					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	ACTGCCACGGGGACTCGGTAG	0.622																																						dbGAP											0													138.0	97.0	111.0					19																	6712375		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1162C>G	19.37:g.6712375G>C	ENSP00000245907:p.Pro388Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.P388A	ENST00000245907.6	37	c.1162	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652513	0.29336	.	.	ENSG00000125730	ENST00000245907	T	0.34859	1.34	5.13	4.1	0.47936	.	0.517296	0.21328	N	0.076343	T	0.44456	0.1294	M	0.77406	2.37	0.09310	N	1	B	0.30937	0.301	B	0.38921	0.285	T	0.39014	-0.9634	10	0.39692	T	0.17	.	11.9754	0.53089	0.0862:0.0:0.9138:0.0	.	388	P01024	CO3_HUMAN	A	388	ENSP00000245907:P388A	ENSP00000245907:P388A	P	-	1	0	C3	6663375	0.528000	0.26314	0.049000	0.19019	0.006000	0.05464	1.521000	0.35910	2.392000	0.81423	0.561000	0.74099	CCC	C3	-	NULL	ENSG00000125730		0.622	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	36	0.00	0	G	NM_000064		6712375	6712375	-1	no_errors	ENST00000245907	ensembl	human	known	69_37n	missense	56	16.42	11	SNP	0.376	C
DNAH14	127602	genome.wustl.edu	37	1	225230754	225230754	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr1:225230754delA	ENST00000445597.2	+	11	1763	c.1763delA	c.(1762-1764)gaafs	p.E588fs	DNAH14_ENST00000439375.2_Frame_Shift_Del_p.E569fs|DNAH14_ENST00000430092.1_Frame_Shift_Del_p.E569fs			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	588					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TCAAGTGAAGAATTGCTCCCA	0.348																																						dbGAP											0													77.0	70.0	72.0					1																	225230754		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.1763delA	1.37:g.225230754delA	ENSP00000409472:p.Glu588fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Frame_Shift_Del	DEL	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.E569fs	ENST00000445597.2	37	c.1706		1																																																																																			DNAH14	-	NULL	ENSG00000185842		0.348	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	27	0.00	0	A	XM_059166		225230754	225230754	+1	no_errors	ENST00000430092	ensembl	human	known	69_37n	frame_shift_del	40	11.11	5	DEL	0.006	-
EPC1	80314	genome.wustl.edu	37	10	32558007	32558007	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr10:32558007G>A	ENST00000263062.8	-	15	2764	c.2495C>T	c.(2494-2496)gCg>gTg	p.A832V	RP11-166N17.1_ENST00000415731.2_RNA|EPC1_ENST00000375110.2_Missense_Mutation_p.A759V|EPC1_ENST00000319778.6_Missense_Mutation_p.A809V	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	832					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CACCTCCATCGCTACTGTGTT	0.418																																						dbGAP											0													296.0	220.0	245.0					10																	32558007		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.2495C>T	10.37:g.32558007G>A	ENSP00000263062:p.Ala832Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.A832V	ENST00000263062.8	37	c.2495	CCDS7172.1	10	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145521	0.77888	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	L	0.32530	0.975	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.997;0.998;0.992	T	0.68953	-0.5273	9	0.46703	T	0.11	-5.8924	17.8664	0.88796	0.0:0.0:1.0:0.0	.	759;809;832	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	V	759;809;832	.	ENSP00000263062:A832V	A	-	2	0	EPC1	32598013	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.420000	0.97426	2.298000	0.77334	0.446000	0.29264	GCG	EPC1	-	pfam_Enhancer_polycomb_C	ENSG00000120616		0.418	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	HGNC	protein_coding	OTTHUMT00000047484.1	80	0.00	0	G			32558007	32558007	-1	no_errors	ENST00000263062	ensembl	human	known	69_37n	missense	121	13.57	19	SNP	1.000	A
IDE	3416	genome.wustl.edu	37	10	94234712	94234712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr10:94234712G>A	ENST00000265986.6	-	17	2058	c.2002C>T	c.(2002-2004)Cga>Tga	p.R668*	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Nonsense_Mutation_p.R113*	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	668					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	TTAAGAGATCGCATATACTAG	0.358																																						dbGAP											0													75.0	70.0	72.0					10																	94234712		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2002C>T	10.37:g.94234712G>A	ENSP00000265986:p.Arg668*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R721|B7ZAU2|D3DR35|Q5T5N2	Nonsense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.R668*	ENST00000265986.6	37	c.2002	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	G	38	6.723651	0.97792	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	.	.	.	5.66	5.66	0.87406	.	0.147176	0.45361	D	0.000369	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0357	13.6248	0.62157	0.0:0.0:0.8453:0.1547	.	.	.	.	X	668;113	.	ENSP00000265986:R668X	R	-	1	2	IDE	94224692	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.399000	0.52586	2.672000	0.90937	0.591000	0.81541	CGA	IDE	-	superfamily_Metalloenz_metal-bd	ENSG00000119912		0.358	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	45	0.00	0	G	NM_004969		94234712	94234712	-1	no_errors	ENST00000265986	ensembl	human	known	69_37n	nonsense	46	11.54	6	SNP	1.000	A
IFI35	3430	genome.wustl.edu	37	17	41165618	41165618	+	Silent	SNP	C	C	T	rs201068538	byFrequency	TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr17:41165618C>T	ENST00000415816.2	+	5	724	c.501C>T	c.(499-501)ggC>ggT	p.G167G	IFI35_ENST00000438323.2_Silent_p.G169G	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	167					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		ACGGAGGTGGCGATGTGGACG	0.582													C|||	4	0.000798722	0.0008	0.0	5008	,	,		20734	0.003		0.0	False		,,,				2504	0.0					dbGAP											0													265.0	260.0	262.0					17																	41165618		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.501C>T	17.37:g.41165618C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JGX1|Q92984|Q99537|Q9BV98	Silent	SNP	pfam_Nmi/IFP35,pfam_Interferon_induced_35kDa_N	p.G169	ENST00000415816.2	37	c.507		17																																																																																			IFI35	-	pfam_Nmi/IFP35	ENSG00000068079		0.582	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	IFI35	HGNC	protein_coding	OTTHUMT00000395851.1	70	0.00	0	C	NM_005533		41165618	41165618	+1	no_errors	ENST00000438323	ensembl	human	known	69_37n	silent	95	13.64	15	SNP	0.097	T
LRBA	987	genome.wustl.edu	37	4	151935687	151935687	+	Silent	SNP	T	T	C			TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr4:151935687T>C	ENST00000357115.3	-	2	351	c.108A>G	c.(106-108)aaA>aaG	p.K36K	LRBA_ENST00000535741.1_Silent_p.K36K|LRBA_ENST00000507224.1_Silent_p.K36K|LRBA_ENST00000510413.1_Silent_p.K36K	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	36						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGAGCCCTGGTTTCAGAGACA	0.522																																						dbGAP											0													64.0	56.0	58.0					4																	151935687		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.108A>G	4.37:g.151935687T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.K36	ENST00000357115.3	37	c.108	CCDS3773.1	4																																																																																			LRBA	-	NULL	ENSG00000198589		0.522	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	39	0.00	0	T			151935687	151935687	-1	no_errors	ENST00000357115	ensembl	human	known	69_37n	silent	40	13.04	6	SNP	0.917	C
LUC7L3	51747	genome.wustl.edu	37	17	48818484	48818484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr17:48818484delC	ENST00000505658.1	+	4	417	c.228delC	c.(226-228)ttcfs	p.F76fs	LUC7L3_ENST00000544170.1_5'UTR|LUC7L3_ENST00000240304.1_Frame_Shift_Del_p.F76fs|LUC7L3_ENST00000393227.2_Frame_Shift_Del_p.F76fs			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	76					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						GCTCTCGTTTCATGAAAGTTG	0.383																																						dbGAP											0													180.0	182.0	182.0					17																	48818484		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.228delC	17.37:g.48818484delC	ENSP00000425092:p.Phe76fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Frame_Shift_Del	DEL	pfam_LUC7-rel	p.F76fs	ENST00000505658.1	37	c.228	CCDS11573.1	17																																																																																			LUC7L3	-	pfam_LUC7-rel	ENSG00000108848		0.383	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L3	HGNC	protein_coding	OTTHUMT00000368205.2	53	0.00	0	C	NM_016424		48818484	48818484	+1	no_errors	ENST00000240304	ensembl	human	known	69_37n	frame_shift_del	69	24.18	22	DEL	0.997	-
MPEG1	219972	genome.wustl.edu	37	11	58979086	58979086	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr11:58979086G>A	ENST00000361050.3	-	1	1338	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	418						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CAGGTGCACCGGGGAGTAGCC	0.537																																						dbGAP											0													67.0	66.0	66.0					11																	58979086		1920	4138	6058	-	-	-	SO:0001583	missense	0			AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1253C>T	11.37:g.58979086G>A	ENSP00000354335:p.Pro418Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1T6|Q8TEF8	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.P418L	ENST00000361050.3	37	c.1253	CCDS41650.1	11	.	.	.	.	.	.	.	.	.	.	G	11.57	1.679363	0.29783	.	.	ENSG00000197629	ENST00000361050	T	0.41065	1.01	5.73	4.82	0.62117	.	0.248180	0.40469	N	0.001089	T	0.44329	0.1288	M	0.74881	2.28	0.19300	N	0.999971	B	0.17465	0.022	B	0.08055	0.003	T	0.46148	-0.9212	10	0.72032	D	0.01	-1.3455	12.1383	0.53984	0.0806:0.0:0.9194:0.0	.	418	Q2M385	MPEG1_HUMAN	L	418	ENSP00000354335:P418L	ENSP00000354335:P418L	P	-	2	0	MPEG1	58735662	0.998000	0.40836	0.003000	0.11579	0.001000	0.01503	8.781000	0.91805	1.441000	0.47550	-0.150000	0.13652	CCG	MPEG1	-	NULL	ENSG00000197629		0.537	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPEG1	HGNC	protein_coding	OTTHUMT00000370027.1	42	0.00	0	G	NM_001039396		58979086	58979086	-1	no_errors	ENST00000361050	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	0.066	A
NIN	51199	genome.wustl.edu	37	14	51243678	51243678	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr14:51243678C>A	ENST00000382041.3	-	7	845	c.655G>T	c.(655-657)Gtg>Ttg	p.V219L	NIN_ENST00000530997.2_Missense_Mutation_p.V219L|NIN_ENST00000382043.4_Missense_Mutation_p.V219L|NIN_ENST00000453196.1_Missense_Mutation_p.V219L|NIN_ENST00000324330.9_Missense_Mutation_p.V219L|NIN_ENST00000389868.3_Missense_Mutation_p.V219L|NIN_ENST00000245441.5_Missense_Mutation_p.V219L	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	219	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCTCCATCCACATTCTGTAAA	0.463			T	PDGFRB	MPD																																	dbGAP		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													112.0	103.0	106.0					14																	51243678		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.655G>T	14.37:g.51243678C>A	ENSP00000371472:p.Val219Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_HAND_2	p.V219L	ENST00000382041.3	37	c.655	CCDS32079.1	14	.	.	.	.	.	.	.	.	.	.	C	0.194	-1.050363	0.01981	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;3.24	5.76	2.63	0.31362	EF-hand-like domain (1);	0.820569	0.11182	N	0.590829	T	0.17874	0.0429	N	0.12182	0.205	0.09310	N	1	B;B;P;B;B	0.35033	0.061;0.072;0.481;0.002;0.208	B;B;B;B;B	0.40410	0.023;0.032;0.328;0.003;0.179	T	0.29701	-1.0003	10	0.18276	T	0.48	-2.8812	5.2241	0.15385	0.1291:0.5465:0.0:0.3244	.	225;219;219;219;219	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	L	219;219;219;219;225;219;219;219;181	ENSP00000245441:V219L;ENSP00000374518:V219L;ENSP00000371474:V219L;ENSP00000371472:V219L;ENSP00000324210:V219L;ENSP00000412391:V219L;ENSP00000398641:V181L	ENSP00000245441:V219L	V	-	1	0	NIN	50313428	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	-0.169000	0.09911	0.289000	0.22422	-0.150000	0.13652	GTG	NIN	-	NULL	ENSG00000100503		0.463	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	31	0.00	0	C	NM_182946		51243678	51243678	-1	no_errors	ENST00000245441	ensembl	human	known	69_37n	missense	45	19.64	11	SNP	0.001	A
ODF2	4957	genome.wustl.edu	37	9	131221854	131221854	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr9:131221854C>T	ENST00000434106.3	+	3	404	c.41C>T	c.(40-42)tCg>tTg	p.S14L	ODF2_ENST00000546203.1_Missense_Mutation_p.S14L|ODF2_ENST00000444119.2_5'Flank|ODF2_ENST00000351030.3_5'UTR|ODF2_ENST00000448249.3_5'UTR|ODF2_ENST00000372791.3_Missense_Mutation_p.S14L|ODF2_ENST00000393527.3_5'UTR|ODF2_ENST00000372807.5_5'Flank|ODF2_ENST00000393533.2_Missense_Mutation_p.S14L|ODF2_ENST00000535026.1_5'UTR|ODF2_ENST00000604420.1_Missense_Mutation_p.S14L|ODF2_ENST00000372814.3_Missense_Mutation_p.S58L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	14					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGGTTTCCATCGTGTGGGAAG	0.483																																						dbGAP											0													126.0	103.0	111.0					9																	131221854		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.41C>T	9.37:g.131221854C>T	ENSP00000403453:p.Ser14Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	NULL	p.S14L	ENST00000434106.3	37	c.41	CCDS56588.1	9	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723948	0.68959	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000372796;ENST00000434106;ENST00000546203;ENST00000446274;ENST00000432065;ENST00000372791	T;T;T;T;T;T	0.44083	1.16;1.07;1.6;1.6;0.98;0.93	5.65	5.65	0.86999	.	0.331723	0.34268	N	0.004120	T	0.29126	0.0724	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B	0.22604	0.072;0.072;0.072;0.072;0.072	B;B;B;B;B	0.19666	0.016;0.026;0.026;0.011;0.016	T	0.05599	-1.0875	10	0.49607	T	0.09	-1.654	15.093	0.72211	0.0:1.0:0.0:0.0	.	14;14;58;14;14	Q5BJF6-8;B4DX73;Q5BJF6-7;Q5BJF6-5;Q5BJF6	.;.;.;.;ODFP2_HUMAN	L	14;58;14;14;14;14;14;14	ENSP00000377166:S14L;ENSP00000361901:S58L;ENSP00000361882:S14L;ENSP00000403453:S14L;ENSP00000437579:S14L;ENSP00000361877:S14L	ENSP00000361877:S14L	S	+	2	0	ODF2	130261675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.527000	0.53517	2.941000	0.99782	0.655000	0.94253	TCG	ODF2	-	NULL	ENSG00000136811		0.483	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	41	0.00	0	C			131221854	131221854	+1	no_errors	ENST00000372796	ensembl	human	known	69_37n	missense	57	13.64	9	SNP	1.000	T
OR2T33	391195	genome.wustl.edu	37	1	248436655	248436655	+	Silent	SNP	C	C	G	rs140771747		TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr1:248436655C>G	ENST00000318021.2	-	1	483	c.462G>C	c.(460-462)ggG>ggC	p.G154G		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G154G(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTGCAGGAGCCCGTCAGCTG	0.587																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											98.0	95.0	96.0					1																	248436655		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.462G>C	1.37:g.248436655C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNN0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G154	ENST00000318021.2	37	c.462	CCDS31109.1	1																																																																																			OR2T33	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177212		0.587	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1	40	0.00	0	C	NM_001004695		248436655	248436655	-1	no_errors	ENST00000318021	ensembl	human	known	69_37n	silent	96	14.29	16	SNP	0.038	G
PLCB4	5332	genome.wustl.edu	37	20	9417764	9417764	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr20:9417764C>T	ENST00000378493.1	+	26	2708	c.2693C>T	c.(2692-2694)aCg>aTg	p.T898M	PLCB4_ENST00000378501.2_Missense_Mutation_p.T898M|PLCB4_ENST00000278655.4_Missense_Mutation_p.T898M|PLCB4_ENST00000378473.3_Missense_Mutation_p.T910M|PLCB4_ENST00000334005.3_Missense_Mutation_p.T898M|PLCB4_ENST00000414679.2_Missense_Mutation_p.T910M|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	898					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.T898M(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCAACCACCACGGCTGCCCTG	0.512																																						dbGAP											1	Substitution - Missense(1)	breast(1)											70.0	62.0	65.0					20																	9417764		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2693C>T	20.37:g.9417764C>T	ENSP00000367754:p.Thr898Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.T898M	ENST00000378493.1	37	c.2693	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149067	0.57151	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.61980	2.14;2.15;0.06;0.06;2.14;1.96	5.93	5.93	0.95920	.	0.048756	0.85682	D	0.000000	T	0.65523	0.2699	N	0.08118	0	0.58432	D	0.999999	B;P;D;P	0.89917	0.096;0.592;1.0;0.931	B;B;D;P	0.75020	0.011;0.056;0.985;0.536	T	0.72798	-0.4184	10	0.66056	D	0.02	.	20.3312	0.98718	0.0:1.0:0.0:0.0	.	910;745;898;898	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	M	898;910;898;898;898;746	ENSP00000334105:T898M;ENSP00000367734:T910M;ENSP00000278655:T898M;ENSP00000367754:T898M;ENSP00000367762:T898M;ENSP00000390616:T746M	ENSP00000278655:T898M	T	+	2	0	PLCB4	9365764	0.998000	0.40836	0.948000	0.38648	0.255000	0.26057	4.312000	0.59154	2.797000	0.96272	0.655000	0.94253	ACG	PLCB4	-	pirsf_PLC-beta	ENSG00000101333		0.512	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	18	0.00	0	C			9417764	9417764	+1	no_errors	ENST00000334005	ensembl	human	known	69_37n	missense	43	18.87	10	SNP	0.996	T
PLOD3	8985	genome.wustl.edu	37	7	100856163	100856163	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr7:100856163C>G	ENST00000223127.3	-	8	1237	c.839G>C	c.(838-840)gGc>gCc	p.G280A		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	280					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GTTGCAGAAGCCACAGCCTCC	0.652																																						dbGAP											0													47.0	45.0	46.0					7																	100856163		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.839G>C	7.37:g.100856163C>G	ENSP00000223127:p.Gly280Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6W6|Q540C3	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.G280A	ENST00000223127.3	37	c.839	CCDS5715.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.461|6.461	0.453248|0.453248	0.12283|0.12283	.|.	.|.	ENSG00000106397|ENSG00000106397	ENST00000421736|ENST00000223127;ENST00000541462	.|T	.|0.62788	.|0.0	4.98|4.98	4.09|4.09	0.47781|0.47781	.|.	.|0.116646	.|0.56097	.|N	.|0.000021	T|T	0.49729|0.49729	0.1574|0.1574	L|L	0.48642|0.48642	1.525|1.525	0.47214|0.47214	D|D	0.99935|0.99935	.|B	.|0.19706	.|0.038	.|B	.|0.15484	.|0.013	T|T	0.37753|0.37753	-0.9692|-0.9692	5|10	.|0.08599	.|T	.|0.76	-2.8715|-2.8715	11.2828|11.2828	0.49206|0.49206	0.0:0.8151:0.1849:0.0|0.0:0.8151:0.1849:0.0	.|.	.|280	.|O60568	.|PLOD3_HUMAN	P|A	113|280;184	.|ENSP00000223127:G280A	.|ENSP00000223127:G280A	A|G	-|-	1|2	0|0	PLOD3|PLOD3	100642883|100642883	0.000000|0.000000	0.05858|0.05858	0.933000|0.933000	0.37362|0.37362	0.951000|0.951000	0.60555|0.60555	0.675000|0.675000	0.25232|0.25232	1.070000|1.070000	0.40811|0.40811	0.462000|0.462000	0.41574|0.41574	GCT|GGC	PLOD3	-	NULL	ENSG00000106397		0.652	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLOD3	HGNC	protein_coding	OTTHUMT00000347470.1	16	0.00	0	C			100856163	100856163	-1	no_errors	ENST00000223127	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	0.980	G
TP53	7157	genome.wustl.edu	37	17	7579344	7579344	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr17:7579344delG	ENST00000269305.4	-	4	532	c.343delC	c.(343-345)catfs	p.H115fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.H115fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.H115fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.H115fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.H115fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.H115fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	115	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.G112_S116delGFLHS(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.L114fs*30(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCCCAGAATGCAAGAAGCCC	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	20	Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(3)	upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|breast(2)|large_intestine(1)|stomach(1)|urinary_tract(1)|liver(1)											65.0	61.0	62.0					17																	7579344		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.343delC	17.37:g.7579344delG	ENSP00000269305:p.His115fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.H115fs	ENST00000269305.4	37	c.343	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	19	0.00	0	G	NM_000546		7579344	7579344	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_del	21	24.14	7	DEL	0.938	-
WNK1	65125	genome.wustl.edu	37	12	970297	970297	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr12:970297delA	ENST00000315939.6	+	7	2382	c.1739delA	c.(1738-1740)gaafs	p.E580fs	WNK1_ENST00000535572.1_Frame_Shift_Del_p.E580fs|WNK1_ENST00000537687.1_Frame_Shift_Del_p.E580fs|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000530271.2_Frame_Shift_Del_p.E580fs|WNK1_ENST00000340908.4_Frame_Shift_Del_p.E173fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	580					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAGGAGCAAGAAAAAAAAAAG	0.468																																					Colon(19;451 567 6672 12618 28860)	dbGAP											1	Unknown(1)	skin(1)											98.0	96.0	97.0					12																	970297		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1739delA	12.37:g.970297delA	ENSP00000313059:p.Glu580fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K583fs	ENST00000315939.6	37	c.1739	CCDS8506.1	12																																																																																			WNK1	-	NULL	ENSG00000060237		0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	19	0.00	0	A	NM_018979		970297	970297	+1	no_errors	ENST00000530271	ensembl	human	known	69_37n	frame_shift_del	14	21.05	4	DEL	1.000	-
ZBTB9	221504	genome.wustl.edu	37	6	33423544	33423544	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr6:33423544G>A	ENST00000395064.2	+	2	935	c.667G>A	c.(667-669)Gat>Aat	p.D223N		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						agatgatgatgatgaggaCCA	0.567																																						dbGAP											0													62.0	61.0	61.0					6																	33423544		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.667G>A	6.37:g.33423544G>A	ENSP00000378503:p.Asp223Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AB19	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D223N	ENST00000395064.2	37	c.667	CCDS4780.1	6	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410554	0.25465	.	.	ENSG00000213588	ENST00000395064	T	0.06371	3.31	4.64	4.64	0.57946	.	0.405503	0.17148	U	0.185181	T	0.01421	0.0046	N	0.08118	0	0.25230	N	0.989831	B	0.23058	0.079	B	0.21546	0.035	T	0.46871	-0.9160	10	0.23302	T	0.38	.	15.0434	0.71807	0.0:0.0:1.0:0.0	.	223	Q96C00	ZBTB9_HUMAN	N	223	ENSP00000378503:D223N	ENSP00000378503:D223N	D	+	1	0	ZBTB9	33531522	0.969000	0.33509	0.841000	0.33234	0.416000	0.31233	2.346000	0.44027	2.396000	0.81511	0.563000	0.77884	GAT	ZBTB9	-	NULL	ENSG00000213588		0.567	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB9	HGNC	protein_coding	OTTHUMT00000276533.1	20	0.00	0	G	NM_152735		33423544	33423544	+1	no_errors	ENST00000395064	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	0.807	A
ZNF717	100131827	genome.wustl.edu	37	3	75790810	75790811	+	Frame_Shift_Ins	INS	-	-	T	rs199577560	byFrequency	TCGA-E9-A248-01A-11D-A167-09	TCGA-E9-A248-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fee90b4e-f005-4b40-a9af-d1e590b1e8a8	6964baa2-3344-49db-ad80-1e28ae93e53c	g.chr3:75790810_75790811insT	ENST00000477374.1	-	3	305_306	c.134_135insA	c.(133-135)accfs	p.T45fs	ZNF717_ENST00000422325.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000491507.1_5'UTR			Q9BY31	ZN717_HUMAN	zinc finger protein 717	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCCTGTACAGGGTCCTCTGAGC	0.51																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000477374.1:c.134_135insA	3.37:g.75790810_75790811insT	ENSP00000417902:p.Thr45fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L46fs	ENST00000477374.1	37	c.135_134		3																																																																																			ZNF717	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000227124		0.510	ZNF717-005	PUTATIVE	basic	protein_coding	ZNF717	HGNC	protein_coding	OTTHUMT00000352767.1	19	0.00	0	-	NM_001128223		75790810	75790811	-1	no_errors	ENST00000422325	ensembl	human	known	69_37n	frame_shift_ins	31	18.42	7	INS	0.999:0.997	T
