#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_ ensembl_gene_id	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_GMAF	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_dbSNP	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_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
TP63	8626	genome.wustl.edu	37	3	189604233	189604233	+	Missense_Mutation	SNP	A	A	G	rs369453583		TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr3:189604233A>G	ENST00000264731.3	+	11	1489	c.1400A>G	c.(1399-1401)aAc>aGc	p.N467S	TP63_ENST00000392463.2_Missense_Mutation_p.N373S|TP63_ENST00000440651.2_Missense_Mutation_p.N463S|TP63_ENST00000456148.1_Missense_Mutation_p.N369S|TP63_ENST00000354600.5_Missense_Mutation_p.N373S|TP63_ENST00000320472.5_Missense_Mutation_p.N467S|TP63_ENST00000382063.4_Missense_Mutation_p.N382S|TP63_ENST00000449992.1_Missense_Mutation_p.N288S|TP63_ENST00000392460.3_Missense_Mutation_p.N467S|TP63_ENST00000392461.3_Missense_Mutation_p.N373S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	467					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCACCTCTGAACAAAATGAAC	0.488										HNSCC(45;0.13)			ENSG00000073282																																					0								A	SER/ASN,SER/ASN,SER/ASN,SER/ASN	0,4406		0,0,2203	141.0	118.0	126.0		1400,1118,1118,1400	3.3	1.0	3		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	TP63	NM_003722.4,NM_001114981.1,NM_001114980.1,NM_001114978.1	46,46,46,46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign,benign	467/681,373/462,373/587,467/556	189604233	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1400A>G	3.37:g.189604233A>G	ENSP00000264731:p.Asn467Ser		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_D-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.N467S	ENST00000264731.3	37	c.1400	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	A	10.88	1.474768	0.26511	0.0	1.16E-4	ENSG00000073282	ENST00000264731;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D	0.99680	-6.05;-6.3;-6.28;-6.05;-6.38;-6.04;-6.27;-6.29;-6.38;-6.04	5.98	3.3	0.37823	.	0.145674	0.64402	D	0.000007	D	0.98223	0.9412	L	0.39898	1.24	0.34463	D	0.702002	B;B;B;B;B;B	0.18013	0.0;0.0;0.015;0.011;0.015;0.025	B;B;B;B;B;B	0.24701	0.002;0.007;0.055;0.037;0.053;0.024	D	0.99973	1.2076	9	.	.	.	-11.6314	6.5092	0.22212	0.6985:0.0:0.3015:0.0	.	288;467;373;373;467;467	Q9H3D4-10;Q9H3D4-7;Q9H3D4-4;Q9H3D4-2;Q9H3D4-3;Q9H3D4	.;.;.;.;.;P63_HUMAN	S	467;467;467;463;382;373;373;373;288;369	ENSP00000264731:N467S;ENSP00000317510:N467S;ENSP00000376253:N467S;ENSP00000394337:N463S;ENSP00000371495:N382S;ENSP00000346614:N373S;ENSP00000376256:N373S;ENSP00000376254:N373S;ENSP00000387839:N288S;ENSP00000389485:N369S	.	N	+	2	0	TP63	191086927	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.507000	0.53371	1.089000	0.41292	-0.332000	0.08345	AAC	-	TP63	-	NULL		0.488	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	0	0	0	104	104	101	0.00	0.00	A	NM_003722		189604233	+1	13	11	84	66	tier1	no_errors	ENST00000264731	ensembl	human	known	74_37	missense	13.27	14.29	SNP	1.000	G	13	84
ST3GAL5	8869	genome.wustl.edu	37	2	86090503	86090503	+	Missense_Mutation	SNP	A	A	G			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr2:86090503A>G	ENST00000377332.3	-	2	296	c.188T>C	c.(187-189)tTa>tCa	p.L63S	ST3GAL5_ENST00000484728.1_5'UTR|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.L35S|ST3GAL5_ENST00000525834.2_Missense_Mutation_p.L63S|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.L40S	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	63					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						GTCTTTTAATAACAAGCTGGG	0.488													ENSG00000115525																																					0													148.0	138.0	141.0					2																	86090503		2203	4300	6503	SO:0001583	missense	0			-	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.188T>C	2.37:g.86090503A>G	ENSP00000366549:p.Leu63Ser		B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.L63S	ENST00000377332.3	37	c.188	CCDS1986.2	2	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276810	0.40294	.	.	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332;ENST00000455892;ENST00000525834	T;T;T;T;T	0.62105	0.91;0.94;0.79;0.38;0.05	5.53	5.53	0.82687	.	0.560423	0.16465	N	0.213240	T	0.68174	0.2972	L	0.27053	0.805	0.33557	D	0.59693	D;D;D;D	0.89917	1.0;1.0;0.964;0.961	D;D;P;P	0.79784	0.993;0.993;0.726;0.804	T	0.76138	-0.3069	10	0.87932	D	0	-12.1202	12.3493	0.55139	1.0:0.0:0.0:0.0	.	63;63;63;40	G3V199;B7Z9J0;Q9UNP4;Q9UNP4-3	.;.;SIAT9_HUMAN;.	S	40;35;63;35;63	ENSP00000377397:L40S;ENSP00000377394:L35S;ENSP00000366549:L63S;ENSP00000401375:L35S;ENSP00000433607:L63S	ENSP00000306247:L63S	L	-	2	0	ST3GAL5	85944014	0.909000	0.30893	0.973000	0.42090	0.297000	0.27493	4.987000	0.63857	2.224000	0.72417	0.528000	0.53228	TTA	-	ST3GAL5	-	pirsf_Sialyl_trans		0.488	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ST3GAL5	HGNC	protein_coding	OTTHUMT00000252486.1	0	0	0	116	116	116	0.00	0.00	A	NM_003896		86090503	-1	44	26	78	69	tier1	no_errors	ENST00000377332	ensembl	human	known	74_37	missense	35.77	27.08	SNP	0.979	G	44	78
TDRD7	23424	genome.wustl.edu	37	9	100235889	100235889	+	Missense_Mutation	SNP	A	A	G			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr9:100235889A>G	ENST00000355295.4	+	11	2355	c.2060A>G	c.(2059-2061)gAg>gGg	p.E687G	TDRD7_ENST00000540902.1_Missense_Mutation_p.E36G|TDRD7_ENST00000422139.2_Missense_Mutation_p.E613G	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	687					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CGTAAGATAGAGGACTACTTC	0.383													ENSG00000196116																																					0													137.0	118.0	125.0					9																	100235889		2203	4300	6503	SO:0001583	missense	0			-	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.2060A>G	9.37:g.100235889A>G	ENSP00000347444:p.Glu687Gly		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.E687G	ENST00000355295.4	37	c.2060	CCDS6725.1	9	.	.	.	.	.	.	.	.	.	.	A	21.9	4.221419	0.79464	.	.	ENSG00000196116	ENST00000355295;ENST00000422139;ENST00000540902	T;T;T	0.28454	2.94;2.94;1.61	4.27	4.27	0.50696	Maternal tudor protein (1);	0.050408	0.85682	D	0.000000	T	0.46776	0.1410	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.971	T	0.41752	-0.9491	10	0.52906	T	0.07	-28.0812	13.2082	0.59809	1.0:0.0:0.0:0.0	.	36;687	Q8NHU6-3;Q8NHU6	.;TDRD7_HUMAN	G	687;613;36	ENSP00000347444:E687G;ENSP00000413608:E613G;ENSP00000440717:E36G	ENSP00000347444:E687G	E	+	2	0	TDRD7	99275710	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.709000	0.91379	2.158000	0.67659	0.528000	0.53228	GAG	-	TDRD7	-	pfam_Tudor		0.383	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD7	HGNC	protein_coding	OTTHUMT00000053322.1	0	0	0	77	77	137	0.00	0.00	A	NM_014290		100235889	+1	20	26	87	91	tier1	no_errors	ENST00000355295	ensembl	human	known	74_37	missense	18.69	22.22	SNP	1.000	G	20	87
SLC35G1	159371	genome.wustl.edu	37	10	95658334	95658334	+	Missense_Mutation	SNP	A	A	G	rs542280075		TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr10:95658334A>G	ENST00000427197.1	+	2	246	c.185A>G	c.(184-186)aAg>aGg	p.K62R	SLC35G1_ENST00000371408.3_Missense_Mutation_p.K61R	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	62					calcium ion export from cell (GO:1990034)|cytosolic calcium ion homeostasis (GO:0051480)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TCAGAAGCCAAGAAGAAAGCA	0.383													ENSG00000176273	A|||	1	0.000199681	0.0008	0.0	5008	,	,		19547	0.0		0.0	False		,,,				2504	0.0																0													210.0	190.0	197.0					10																	95658334		2203	4300	6503	SO:0001583	missense	0			-	AK091309	CCDS7432.1, CCDS44459.1	10q23.33	2013-05-22	2011-08-03	2011-08-03	ENSG00000176273	ENSG00000176273		"""Solute carriers"""	26607	protein-coding gene	gene with protein product			"""transmembrane protein 20"""	TMEM20		21569384	Standard	NM_153226		Approved	FLJ33990, C10orf60	uc001kjg.2	Q2M3R5	OTTHUMG00000018779	ENST00000427197.1:c.185A>G	10.37:g.95658334A>G	ENSP00000400932:p.Lys62Arg		Q86YG5|Q8NBA5	Missense_Mutation	SNP	pfam_DMT	p.K62R	ENST00000427197.1	37	c.185	CCDS44459.1	10	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134909	0.56828	.	.	ENSG00000176273	ENST00000371408;ENST00000427197	T;T	0.78481	-1.16;-1.18	5.73	5.73	0.89815	.	0.363813	0.30959	N	0.008533	T	0.72748	0.3499	L	0.41824	1.3	0.40227	D	0.977803	P;B;B	0.52316	0.952;0.035;0.027	P;B;B	0.44422	0.449;0.014;0.019	T	0.71955	-0.4436	10	0.25106	T	0.35	.	16.3123	0.82883	1.0:0.0:0.0:0.0	.	45;62;61	B7ZKP0;Q2M3R5;Q2M3R5-2	.;S35G1_HUMAN;.	R	61;62	ENSP00000360462:K61R;ENSP00000400932:K62R	ENSP00000360462:K61R	K	+	2	0	SLC35G1	95648324	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.238000	0.65366	2.308000	0.77769	0.533000	0.62120	AAG	-	SLC35G1	-	NULL		0.383	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC35G1	HGNC	protein_coding		0	0	0	66	66	122	0.00	0.00	A	NM_153226		95658334	+1	16	28	29	59	tier1	no_errors	ENST00000427197	ensembl	human	known	74_37	missense	35.56	32.18	SNP	1.000	G	16	29
BPIFC	254240	genome.wustl.edu	37	22	32843215	32843215	+	Missense_Mutation	SNP	A	A	T			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr22:32843215A>T	ENST00000397452.1	-	4	468	c.358T>A	c.(358-360)Ttc>Atc	p.F120I	BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000300399.3_Missense_Mutation_p.F120I|BPIFC_ENST00000432451.2_5'UTR			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	120						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										GGAGACTCGAACCCCCAGTCT	0.448													ENSG00000184459																																					0													138.0	119.0	126.0					22																	32843215		2203	4300	6503	SO:0001583	missense	0			-	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.358T>A	22.37:g.32843215A>T	ENSP00000380594:p.Phe120Ile		A2RRF1	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.F120I	ENST00000397452.1	37	c.358	CCDS13906.1	22	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274915	0.23307	.	.	ENSG00000184459	ENST00000397452;ENST00000300399	T;T	0.05081	3.5;3.5	5.87	-8.49	0.00931	.	0.570310	0.18956	N	0.126524	T	0.01489	0.0048	N	0.02142	-0.665	0.51233	D	0.999916	B	0.02656	0.0	B	0.01281	0.0	T	0.45804	-0.9236	10	0.13853	T	0.58	-5.9574	7.1646	0.25683	0.2179:0.1707:0.0:0.6114	.	120	Q8NFQ6	BPIFC_HUMAN	I	120	ENSP00000380594:F120I;ENSP00000300399:F120I	ENSP00000300399:F120I	F	-	1	0	BPIFC	31173215	0.000000	0.05858	0.001000	0.08648	0.765000	0.43378	-1.431000	0.02432	-1.199000	0.02666	-0.339000	0.08088	TTC	-	BPIFC	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N		0.448	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	HGNC	protein_coding	OTTHUMT00000129029.2	0	0	0	91	91	130	0.00	0.00	A	NM_174932		32843215	-1	33	31	56	78	tier1	no_errors	ENST00000300399	ensembl	human	known	74_37	missense	37.08	28.44	SNP	0.001	T	33	56
NOL4L	140688	genome.wustl.edu	37	20	31099150	31099150	+	Splice_Site	SNP	C	C	G			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr20:31099150C>G	ENST00000201961.2	-	4	636	c.417G>C	c.(415-417)caG>caC	p.Q139H	C20orf112_ENST00000375678.3_Splice_Site_p.Q98H|C20orf112_ENST00000375677.1_Splice_Site_p.Q11H			Q96MY1	NOL4L_HUMAN		222						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						GCCGCCTTACCTGCTCCTGGG	0.552													ENSG00000197183																																					0																																										SO:0001630	splice_region_variant	0			-																												ENST00000201961.2:c.417+1G>C	20.37:g.31099150C>G			Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	NULL	p.Q139H	ENST00000201961.2	37	c.417		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.335567|4.335567	0.81801|0.81801	.|.	.|.	ENSG00000197183|ENSG00000197183	ENST00000419612|ENST00000375677;ENST00000375678;ENST00000201961;ENST00000375673	.|.	.|.	.|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|.	.|.	.|.	.|.	T|T	0.54208|0.54208	0.1844|0.1844	N|N	0.22421|0.22421	0.69|0.69	0.50039|0.50039	D|D	0.999845|0.999845	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.48703|0.48703	-0.9012|-0.9012	5|5	.|.	.|.	.|.	.|.	17.6368|17.6368	0.88124|0.88124	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	P|H	52|11;98;139;57	.|.	.|.	A|Q	-|-	1|3	0|2	C20orf112|C20orf112	30562811|30562811	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.913000|0.913000	0.54294|0.54294	7.154000|7.154000	0.77437|0.77437	2.641000|2.641000	0.89580|0.89580	0.561000|0.561000	0.74099|0.74099	GCC|CAG	-	C20orf112	-	NULL		0.552	C20orf112-002	KNOWN	basic|appris_candidate_longest	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078629.3	0	0	0	81	81	63	0.00	0.00	C		Missense_Mutation	31099150	-1	19	11	61	52	tier1	no_errors	ENST00000201961	ensembl	human	known	74_37	missense	23.75	17.46	SNP	1.000	G	19	61
PRH2	5555	genome.wustl.edu	37	12	11082885	11082885	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr12:11082885G>A	ENST00000396400.3	+	2	120	c.82G>A	c.(82-84)Gtt>Att	p.V28I	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Missense_Mutation_p.V28I	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	28	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						CCAAGAAGACGTTCCCTTGGT	0.383													ENSG00000134551																																					0													171.0	160.0	163.0					12																	11082885		2203	4300	6503	SO:0001583	missense	0			-		CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"""parotid proline-rich protein"", ""acidic salivary proline-rich protein, HaeIII type, 2"""	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.82G>A	12.37:g.11082885G>A	ENSP00000379682:p.Val28Ile		A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	NULL	p.V28I	ENST00000396400.3	37	c.82	CCDS8636.1	12	.	.	.	.	.	.	.	.	.	.	G	2.058	-0.416161	0.04766	.	.	ENSG00000134551	ENST00000381847;ENST00000396400;ENST00000256972	T;T	0.15017	2.46;2.46	0.647	-1.29	0.09288	.	.	.	.	.	T	0.07188	0.0182	L	0.34521	1.04	0.09310	N	1	P;P	0.49253	0.692;0.921	B;B	0.26969	0.044;0.075	T	0.21724	-1.0237	8	0.87932	D	0	.	.	.	.	.	28;28	P02810;Q68D45	PRPC_HUMAN;.	I	28	ENSP00000371271:V28I;ENSP00000379682:V28I	ENSP00000256972:V28I	V	+	1	0	PRH2	10974152	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.026000	0.00640	-1.135000	0.02895	0.194000	0.17425	GTT	-	PRH2	-	NULL		0.383	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRH2	HGNC	protein_coding	OTTHUMT00000400231.1	0	0	0	77	77	46	0.00	0.00	G	NM_001110213		11082885	+1	13	9	40	23	tier1	no_errors	ENST00000381847	ensembl	human	known	74_37	missense	24.53	28.12	SNP	0.000	A	13	40
KLHDC7B	113730	genome.wustl.edu	37	22	50986680	50986680	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr22:50986680C>T	ENST00000395676.2	+	1	219	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	29										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCCGTGGGTCCCAGCACTTC	0.622													ENSG00000130487																																					0													50.0	53.0	52.0					22																	50986680		692	1591	2283	SO:0001583	missense	0			-	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.85C>T	22.37:g.50986680C>T	ENSP00000379034:p.Pro29Ser			Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.P29S	ENST00000395676.2	37	c.85	CCDS14097.2	22	.	.	.	.	.	.	.	.	.	.	C	12.50	1.958041	0.34565	.	.	ENSG00000130487	ENST00000395676	D	0.88201	-2.35	3.63	0.0014	0.14046	.	.	.	.	.	T	0.76521	0.3999	N	0.24115	0.695	0.09310	N	1	B	0.25312	0.123	B	0.17979	0.02	T	0.60924	-0.7166	9	0.25751	T	0.34	.	4.3524	0.11162	0.0:0.5854:0.1883:0.2262	.	29	Q96G42	KLD7B_HUMAN	S	29	ENSP00000379034:P29S	ENSP00000379034:P29S	P	+	1	0	KLHDC7B	49333546	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	0.699000	0.25586	0.215000	0.20761	0.485000	0.47835	CCC	-	KLHDC7B	-	NULL		0.622	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7B	HGNC	protein_coding	OTTHUMT00000317089.2	0	0	0	88	88	50	0.00	0.00	C	NM_138433		50986680	+1	26	12	58	21	tier1	no_errors	ENST00000395676	ensembl	human	known	74_37	missense	30.95	36.36	SNP	0.004	T	26	58
ZNF607	84775	genome.wustl.edu	37	19	38189646	38189646	+	Silent	SNP	T	T	C			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr19:38189646T>C	ENST00000355202.4	-	5	1981	c.1386A>G	c.(1384-1386)tcA>tcG	p.S462S	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.S461S	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	462					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)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TAACAAGATATGAGGCACAAC	0.403													ENSG00000198182																																					0													98.0	99.0	99.0					19																	38189646		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1386A>G	19.37:g.38189646T>C			F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S462	ENST00000355202.4	37	c.1386	CCDS33006.1	19																																																																																			-	ZNF607	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2	0	0	0	76	76	126	0.00	0.00	T	NM_032689		38189646	-1	24	14	74	69	tier1	no_errors	ENST00000355202	ensembl	human	known	74_37	silent	24.49	16.67	SNP	0.053	C	24	74
CEP290	80184	genome.wustl.edu	37	12	88496697	88496697	+	Missense_Mutation	SNP	T	T	C			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr12:88496697T>C	ENST00000552810.1	-	26	3252	c.2909A>G	c.(2908-2910)aAt>aGt	p.N970S	CEP290_ENST00000547691.2_Missense_Mutation_p.N30S|CEP290_ENST00000397838.3_Missense_Mutation_p.N30S|CEP290_ENST00000309041.7_Missense_Mutation_p.N972S	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	970					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AGTCAGTTCATTGTACTGTTT	0.358													ENSG00000198707																																					0													98.0	91.0	93.0					12																	88496697		1843	4100	5943	SO:0001583	missense	0			-	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.2909A>G	12.37:g.88496697T>C	ENSP00000448012:p.Asn970Ser		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.N972S	ENST00000552810.1	37	c.2915	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	T	11.38	1.621564	0.28889	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.63255	0.48;-0.03;-0.03;0.48	4.81	2.31	0.28768	.	0.092409	0.64402	D	0.000001	T	0.46718	0.1407	L	0.31926	0.97	0.31852	N	0.62215	B	0.10296	0.003	B	0.15870	0.014	T	0.47586	-0.9106	10	0.29301	T	0.29	.	9.4315	0.38612	0.0:0.1516:0.0:0.8484	.	970	O15078	CE290_HUMAN	S	30;970;972;30	ENSP00000446905:N30S;ENSP00000448012:N970S;ENSP00000308021:N972S;ENSP00000380938:N30S	ENSP00000308021:N972S	N	-	2	0	CEP290	87020828	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.137000	0.50562	0.643000	0.30638	0.459000	0.35465	AAT	-	CEP290	-	NULL		0.358	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	0	0	0	88	88	113	0.00	0.00	T	NM_025114		88496697	-1	25	27	51	54	tier1	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	32.89	33.33	SNP	1.000	C	25	51
CTNS	1497	genome.wustl.edu	37	17	3560153	3560153	+	Intron	SNP	T	T	C			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr17:3560153T>C	ENST00000046640.3	+	9	1274				RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000441220.2_Intron|CTNS_ENST00000381870.3_Intron|CTNS_ENST00000414524.2_Intron	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter						adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	ACCTCACCTTTGACAGAAGAC	0.602													ENSG00000262903																																					0																																										SO:0001627	intron_variant	0			-	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.681+64T>C	17.37:g.3560153T>C			D3DTJ5|Q8IZ01|Q9UNK6	R	SNP	-	NULL	ENST00000046640.3	37	NULL	CCDS11031.1	17																																																																																			-	RP11-235E17.6	-	-		0.602	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ENSG00000262903	Clone_based_vega_gene	protein_coding	OTTHUMT00000317696.1	0	0	0	37	37	68	0.00	0.00	T	NM_004937		3560153	-1	17	18	11	23	tier1	no_errors	ENST00000575741	ensembl	human	known	74_37	rna	60.71	43.90	SNP	0.000	C	17	11
GBA	2629	genome.wustl.edu	37	1	155206233	155206233	+	Missense_Mutation	SNP	A	A	T			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr1:155206233A>T	ENST00000327247.5	-	9	1259	c.1027T>A	c.(1027-1029)Tat>Aat	p.Y343N	GBA_ENST00000493842.1_5'Flank|GBA_ENST00000368373.3_Missense_Mutation_p.Y343N|GBA_ENST00000428024.3_Missense_Mutation_p.Y256N|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000536770.1_Missense_Mutation_p.Y230N|GBA_ENST00000427500.3_Missense_Mutation_p.Y294N	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	343			Y -> C (in GD; type 2; 16% of normal activity; increases susceptibility to proteolytic degradation).		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	CCATGAACATATTTAGCTGCT	0.507									Gaucher disease type I				ENSG00000177628																																					0													70.0	61.0	64.0					1																	155206233		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	glucocerebrosidase insufficiency	-	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.1027T>A	1.37:g.155206233A>T	ENSP00000314508:p.Tyr343Asn		A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30	p.Y343N	ENST00000327247.5	37	c.1027	CCDS1102.1	1	.	.	.	.	.	.	.	.	.	.	.	18.16	3.561769	0.65538	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29	3.67	2.53	0.30540	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.091144	0.45361	D	0.000363	D	0.99515	0.9827	M	0.93420	3.415	0.58432	D	0.999994	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.99;0.964;0.994	D	0.99593	1.0976	10	0.87932	D	0	.	5.3866	0.16222	0.8654:0.0:0.1346:0.0	.	294;230;343	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	N	294;256;343;343;230;300;328	ENSP00000402577:Y294N;ENSP00000397986:Y256N;ENSP00000357357:Y343N;ENSP00000314508:Y343N;ENSP00000445560:Y230N	ENSP00000314508:Y343N	Y	-	1	0	GBA	153472857	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	6.040000	0.70980	0.591000	0.29711	0.397000	0.26171	TAT	-	GBA	-	pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF		0.507	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBA	HGNC	protein_coding	OTTHUMT00000087204.1	0	0	0	113	113	60	0.00	0.00	A	NM_000157		155206233	-1	27	15	63	27	tier1	no_errors	ENST00000327247	ensembl	human	known	74_37	missense	30.00	35.71	SNP	0.998	T	27	63
GATA3	2625	genome.wustl.edu	37	10	8105992	8105992	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr10:8105992C>A	ENST00000346208.3	+	4	1267	c.812C>A	c.(811-813)aCc>aAc	p.T271N	GATA3_ENST00000379328.3_Missense_Mutation_p.T272N|GATA3_ENST00000461472.1_Intron			P23771	GATA3_HUMAN	GATA binding protein 3	271					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCAACCTCGACCCCACTGTGG	0.552			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						ENSG00000107485																												Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0													163.0	119.0	133.0					10																	8105992		2203	4300	6503	SO:0001583	missense	0			-	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.812C>A	10.37:g.8105992C>A	ENSP00000341619:p.Thr271Asn		Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.T272N	ENST00000346208.3	37	c.815	CCDS7083.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.120304	0.94385	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.99875	-7.4;-7.4	5.39	5.39	0.77823	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);	0.000000	0.85682	D	0.000000	D	0.99912	0.9958	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96217	0.9157	10	0.87932	D	0	-16.7366	19.165	0.93553	0.0:1.0:0.0:0.0	.	271;272	P23771;P23771-2	GATA3_HUMAN;.	N	272;271	ENSP00000368632:T272N;ENSP00000341619:T271N	ENSP00000341619:T271N	T	+	2	0	GATA3	8145998	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	7.818000	0.86416	2.519000	0.84933	0.655000	0.94253	ACC	-	GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA		0.552	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	0	0	0	98	98	78	0.00	0.00	C	NM_001002295		8105992	+1	24	35	25	24	tier1	no_errors	ENST00000379328	ensembl	human	known	74_37	missense	48.98	59.32	SNP	1.000	A	24	25
F2R	2149	genome.wustl.edu	37	5	76028937	76028937	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr5:76028937G>T	ENST00000319211.4	+	2	1152	c.887G>T	c.(886-888)tGt>tTt	p.C296F		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	296					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	ATCATTCGATGTCTTAGCTCT	0.488													ENSG00000181104																																					0													155.0	152.0	153.0					5																	76028937		2203	4300	6503	SO:0001583	missense	0			-	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.887G>T	5.37:g.76028937G>T	ENSP00000321326:p.Cys296Phe		Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt	p.C296F	ENST00000319211.4	37	c.887	CCDS4032.1	5	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249558	0.59212	.	.	ENSG00000181104	ENST00000319211	T	0.36157	1.27	4.71	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.216732	0.48767	D	0.000180	T	0.49201	0.1543	L	0.41236	1.265	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.42481	-0.9449	10	0.33141	T	0.24	-20.7161	15.4151	0.74960	0.0:0.1394:0.8606:0.0	.	296	P25116	PAR1_HUMAN	F	296	ENSP00000321326:C296F	ENSP00000321326:C296F	C	+	2	0	F2R	76064693	1.000000	0.71417	0.171000	0.22900	0.958000	0.62258	3.917000	0.56424	1.332000	0.45431	0.561000	0.74099	TGT	-	F2R	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt		0.488	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2R	HGNC	protein_coding	OTTHUMT00000254068.2	0	0	0	57	57	62	0.00	0.00	G			76028937	+1	27	8	59	54	tier1	no_errors	ENST00000319211	ensembl	human	known	74_37	missense	31.40	12.90	SNP	0.757	T	27	59
OR6C1	390321	genome.wustl.edu	37	12	55714741	55714741	+	Missense_Mutation	SNP	C	C	T	rs143845104		TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr12:55714741C>T	ENST00000379668.2	+	1	396	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GTCCTATGACCGCTATGTGGC	0.398													ENSG00000205330																																					0								C	CYS/ARG	0,4404		0,0,2202	47.0	48.0	48.0		358	3.7	0.9	12	dbSNP_134	48	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR6C1	NM_001005182.1	180	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	120/313	55714741	2,13002	2202	4300	6502	SO:0001583	missense	0			-	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.358C>T	12.37:g.55714741C>T	ENSP00000368990:p.Arg120Cys		B2RNM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R120C	ENST00000379668.2	37	c.358	CCDS31818.1	12	.	.	.	.	.	.	.	.	.	.	c	16.59	3.164636	0.57476	0.0	2.33E-4	ENSG00000205330	ENST00000379668	T	0.77358	-1.09	4.62	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.78240	0.4252	M	0.85041	2.73	0.51233	D	0.999914	B	0.28783	0.222	B	0.26094	0.066	T	0.80837	-0.1204	10	0.62326	D	0.03	.	12.0225	0.53352	0.0:0.9119:0.0:0.0881	.	120	Q96RD1	OR6C1_HUMAN	C	120	ENSP00000368990:R120C	ENSP00000368990:R120C	R	+	1	0	OR6C1	54001008	0.112000	0.22096	0.895000	0.35142	0.706000	0.40770	0.623000	0.24447	2.387000	0.81309	0.455000	0.32223	CGC	rs143845104	OR6C1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.398	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C1	HGNC	protein_coding	OTTHUMT00000398152.1	0	0	0	92	92	52	0.00	0.00	C	NM_001005182		55714741	+1	32	6	63	22	tier1	no_errors	ENST00000379668	ensembl	human	known	74_37	missense	33.68	21.43	SNP	1.000	T	32	63
CNN2	1265	genome.wustl.edu	37	19	1036080	1036080	+	Intron	SNP	G	G	C			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr19:1036080G>C	ENST00000263097.4	+	5	753				CNN2_ENST00000565096.2_Intron|CNN2_ENST00000348419.3_Intron|AC011558.5_ENST00000585757.1_RNA|CNN2_ENST00000606983.1_Intron|CNN2_ENST00000562958.2_Silent_p.G135G	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2						actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGATCTAGGGTCCCTGGCTG	0.677													ENSG00000064666																																					0													15.0	16.0	15.0					19																	1036080		2202	4298	6500	SO:0001627	intron_variant	0			-	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.391-49G>C	19.37:g.1036080G>C			A5D8U8|A6NFI4|D6W5X9|Q92578	Silent	SNP	pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.G135	ENST00000263097.4	37	c.405	CCDS12053.1	19																																																																																			-	CNN2	-	superfamily_CH-domain		0.677	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN2	HGNC	protein_coding	OTTHUMT00000420293.3	0	0	0	64	64	30	0.00	0.00	G	NM_004368		1036080	+1	12	7	66	37	tier1	no_errors	ENST00000562958	ensembl	human	novel	74_37	silent	15.19	15.91	SNP	0.002	C	12	66
TJP1	7082	genome.wustl.edu	37	15	29996494	29996494	+	Missense_Mutation	SNP	C	C	G			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr15:29996494C>G	ENST00000346128.6	-	27	5558	c.5084G>C	c.(5083-5085)aGt>aCt	p.S1695T	TJP1_ENST00000400011.2_Missense_Mutation_p.S1619T|TJP1_ENST00000545208.2_Missense_Mutation_p.S1615T|TJP1_ENST00000356107.6_Missense_Mutation_p.S1695T	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1695	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CACCAAAGGACTCAGCAGTGT	0.507													ENSG00000104067																									Melanoma(77;681 1843 6309 6570)												0													46.0	49.0	48.0					15																	29996494		1991	4192	6183	SO:0001583	missense	0			-		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.5084G>C	15.37:g.29996494C>G	ENSP00000281537:p.Ser1695Thr		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens	p.S1695T	ENST00000346128.6	37	c.5084	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041233	0.75732	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.63913	-0.07;-0.07	5.18	4.26	0.50523	ZU5 (3);	0.039599	0.85682	D	0.000000	T	0.79592	0.4472	M	0.80982	2.52	0.80722	D	1	B;P;P;B	0.48407	0.379;0.91;0.545;0.011	P;D;D;B	0.76071	0.898;0.987;0.969;0.19	T	0.82112	-0.0618	10	0.87932	D	0	.	13.5479	0.61715	0.0:0.9246:0.0:0.0754	.	1688;1615;1695;1619	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	T	1695;1619;1695;1615;1615	ENSP00000281537:S1695T;ENSP00000382890:S1619T	ENSP00000281537:S1695T	S	-	2	0	TJP1	27783786	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	7.818000	0.86416	1.177000	0.42855	0.467000	0.42956	AGT	-	TJP1	-	pfam_ZU5,smart_ZU5,pfscan_ZU5		0.507	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	0	0	0	49	49	148	0.00	0.00	C	NM_003257		29996494	-1	8	28	49	95	tier1	no_errors	ENST00000346128	ensembl	human	known	74_37	missense	14.04	22.58	SNP	1.000	G	8	49
FGF5	2250	genome.wustl.edu	37	4	81209881	81209881	+	3'UTR	SNP	A	A	G			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr4:81209881A>G	ENST00000312465.7	+	0	3088				FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5						cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GAAGGGAAAGATAATAATGAT	0.333													ENSG00000138675																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.*2055A>G	4.37:g.81209881A>G			B2R554|O75846|Q3Y8M3|Q8NF90	R	SNP	-	NULL	ENST00000312465.7	37	NULL	CCDS34021.1	4																																																																																			-	FGF5	-	-		0.333	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF5	HGNC	protein_coding	OTTHUMT00000252627.2	0	0	0	24	24	102	0.00	0.00	A			81209881	+1	8	19	13	37	tier1	no_errors	ENST00000503413	ensembl	human	known	74_37	rna	38.10	33.93	SNP	0.004	G	8	13
MUC17	140453	genome.wustl.edu	37	7	100677114	100677114	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr7:100677114C>A	ENST00000306151.4	+	3	2481	c.2417C>A	c.(2416-2418)cCt>cAt	p.P806H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	806	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGAAGTCCTTTATTAACA	0.483													ENSG00000169876																																					0													278.0	285.0	283.0					7																	100677114		2203	4300	6503	SO:0001583	missense	0			-	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2417C>A	7.37:g.100677114C>A	ENSP00000302716:p.Pro806His		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.P806H	ENST00000306151.4	37	c.2417	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	0.676	-0.800140	0.02841	.	.	ENSG00000169876	ENST00000306151	T	0.03330	3.97	1.08	-2.17	0.07059	.	.	.	.	.	T	0.02083	0.0065	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.44711	-0.9310	9	0.44086	T	0.13	.	3.6154	0.08075	0.4643:0.3042:0.2315:0.0	.	806	Q685J3	MUC17_HUMAN	H	806	ENSP00000302716:P806H	ENSP00000302716:P806H	P	+	2	0	MUC17	100463834	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	1.714000	0.37961	-0.513000	0.06496	0.134000	0.15878	CCT	-	MUC17	-	NULL		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	0	0	0	110	110	46	0.00	0.00	C	NM_001040105		100677114	+1	32	5	77	25	tier1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	29.36	16.67	SNP	0.000	A	32	77
KIAA1211	57482	genome.wustl.edu	37	4	57180682	57180682	+	Silent	SNP	C	C	T			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr4:57180682C>T	ENST00000504228.1	+	6	1119	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	KIAA1211_ENST00000541073.1_Silent_p.D331D|KIAA1211_ENST00000264229.6_Silent_p.D338D			Q6ZU35	K1211_HUMAN	KIAA1211	338	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGGAGGAGGACGCCAGGCTGG	0.701													ENSG00000109265																																					0													4.0	5.0	5.0					4																	57180682		1925	3851	5776	SO:0001819	synonymous_variant	0			-	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1014C>T	4.37:g.57180682C>T			Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	NULL	p.D338	ENST00000504228.1	37	c.1014	CCDS43230.1	4																																																																																			-	KIAA1211	-	NULL		0.701	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	0	0	0	37	37	3	0.00	0.00	C	NM_020722		57180682	+1	5	3	17	10	tier1	no_errors	ENST00000504228	ensembl	human	known	74_37	silent	21.74	23.08	SNP	0.000	T	5	17
ERICH3	127254	genome.wustl.edu	37	1	75037267	75037267	+	Missense_Mutation	SNP	G	G	C			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr1:75037267G>C	ENST00000326665.5	-	14	4345	c.4127C>G	c.(4126-4128)tCc>tGc	p.S1376C	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1376	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGAAAAGGAGGAGGCTTTATT	0.512													ENSG00000178965																																					0													123.0	123.0	123.0					1																	75037267		2203	4300	6503	SO:0001583	missense	0			-																												ENST00000326665.5:c.4127C>G	1.37:g.75037267G>C	ENSP00000322609:p.Ser1376Cys		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.S1376C	ENST00000326665.5	37	c.4127	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654155	0.47362	.	.	ENSG00000178965	ENST00000326665	T	0.19250	2.16	5.0	3.08	0.35506	.	.	.	.	.	T	0.12263	0.0298	N	0.24115	0.695	0.09310	N	0.999999	D	0.61697	0.99	P	0.58873	0.847	T	0.07539	-1.0767	9	0.62326	D	0.03	0.7678	6.8472	0.23994	0.1645:0.1423:0.6932:0.0	.	1376	Q5RHP9	CA173_HUMAN	C	1376	ENSP00000322609:S1376C	ENSP00000322609:S1376C	S	-	2	0	C1orf173	74809855	0.036000	0.19791	0.104000	0.21259	0.782000	0.44232	1.032000	0.30178	1.099000	0.41499	0.561000	0.74099	TCC	-	C1orf173	-	NULL		0.512	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	0	0	0	34	34	110	0.00	0.00	G			75037267	-1	15	24	24	61	tier1	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	37.50	28.24	SNP	0.005	C	15	24
CTNNA2	1496	genome.wustl.edu	37	2	80816439	80816439	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr2:80816439C>T	ENST00000402739.4	+	14	2023	c.2018C>T	c.(2017-2019)gCg>gTg	p.A673V	AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A673V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A673V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A707V|AC008067.2_ENST00000609950.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A352V|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A673V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A673V	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	673					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCCATCATGGCGCAACTACCG	0.522													ENSG00000066032																																					0													62.0	67.0	65.0					2																	80816439		2176	4287	6463	SO:0001583	missense	0			-		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2018C>T	2.37:g.80816439C>T	ENSP00000384638:p.Ala673Val		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.A707V	ENST00000402739.4	37	c.2120		2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340632	0.81911	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	N	0.24115	0.695	0.80722	D	1	B;D;D;D	0.65815	0.427;0.995;0.974;0.974	B;P;B;B	0.58331	0.145;0.837;0.424;0.424	T	0.52155	-0.8613	9	.	.	.	.	19.9813	0.97326	0.0:1.0:0.0:0.0	.	305;673;673;673	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	V	673;673;707;673;673;673;352	ENSP00000418191:A673V;ENSP00000419295:A673V;ENSP00000355398:A707V;ENSP00000384638:A673V;ENSP00000444675:A673V;ENSP00000441705:A673V;ENSP00000341500:A352V	.	A	+	2	0	CTNNA2	80669950	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.629000	0.83207	2.726000	0.93360	0.655000	0.94253	GCG	-	CTN2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.522	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTN2	HGNC	protein_coding	OTTHUMT00000328511.4	0	0	0	103	103	123	0.00	0.00	C	NM_004389		80816439	+1	21	38	33	22	tier1	no_errors	ENST00000361291	ensembl	human	known	74_37	missense	38.89	63.33	SNP	1.000	T	21	33
DIP2A	23181	genome.wustl.edu	37	21	47924314	47924314	+	Silent	SNP	G	G	C			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr21:47924314G>C	ENST00000417564.2	+	6	717	c.696G>C	c.(694-696)gtG>gtC	p.V232V	DIP2A_ENST00000435722.3_Silent_p.V232V|DIP2A_ENST00000400274.1_Silent_p.V232V|DIP2A_ENST00000466639.1_Intron|DIP2A_ENST00000427143.2_Silent_p.V168V|DIP2A_ENST00000457905.3_Silent_p.V232V|DIP2A_ENST00000318711.7_Silent_p.V233V			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	232					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CGGGCCTCGTGGAGCATTCGT	0.517													ENSG00000160305																																					0													58.0	58.0	58.0					21																	47924314		1941	4160	6101	SO:0001819	synonymous_variant	0			-	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.696G>C	21.37:g.47924314G>C			A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.V233	ENST00000417564.2	37	c.699	CCDS46655.1	21																																																																																			-	DIP2A	-	NULL		0.517	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	0	0	0	85	85	81	0.00	0.00	G	NM_015151		47924314	+1	22	20	82	66	tier1	no_errors	ENST00000318711	ensembl	human	known	74_37	silent	21.15	23.26	SNP	0.036	C	22	82
PRMT2	3275	genome.wustl.edu	37	21	48083368	48083368	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr21:48083368G>A	ENST00000397637.1	+	10	2125	c.1171G>A	c.(1171-1173)Ggt>Agt	p.G391S	PRMT2_ENST00000440086.1_Missense_Mutation_p.G289S|PRMT2_ENST00000451211.2_Intron|PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000458387.2_Missense_Mutation_p.G243E|PRMT2_ENST00000397638.2_Missense_Mutation_p.G391S|PRMT2_ENST00000355680.3_Missense_Mutation_p.G391S			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	391	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		CGTGGTCACGGGTTCAGTTGT	0.552													ENSG00000160310																																					0													185.0	149.0	161.0					21																	48083368		2203	4300	6503	SO:0001583	missense	0			-	U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"""Protein arginine methyltransferases"""	5186	protein-coding gene	gene with protein product		601961	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1"", ""HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"""	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.1171G>A	21.37:g.48083368G>A	ENSP00000380759:p.Gly391Ser		B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Missense_Mutation	SNP	pfam_SH3_domain,pfam_Arg_MeTrfase,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tR_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.G391S	ENST00000397637.1	37	c.1171	CCDS13737.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	21.4|21.4	4.147963|4.147963	0.78001|0.78001	.|.	.|.	ENSG00000160310|ENSG00000160310	ENST00000458387|ENST00000355680;ENST00000397638;ENST00000397637;ENST00000440086	T|D;D;D;D	0.69685|0.96365	-0.42|-3.99;-3.99;-3.99;-3.99	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.98642|0.98642	0.9545|0.9545	H|H	0.94385|0.94385	3.53|3.53	0.80722|0.80722	D|D	1|1	B|D;D	0.18741|0.89917	0.03|1.0;0.997	B|D;D	0.23419|0.91635	0.046|0.999;0.968	D|D	0.99609|0.99609	1.0980|1.0980	9|9	.|.	.|.	.|.	-8.7749|-8.7749	16.504|16.504	0.84264|0.84264	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	243|289;391	B7U631|Q498Y5;P55345	.|.;ANM2_HUMAN	E|S	243|391;391;391;289	ENSP00000407463:G243E|ENSP00000347906:G391S;ENSP00000380760:G391S;ENSP00000380759:G391S;ENSP00000397266:G289S	.|.	G|G	+|+	2|1	0|0	PRMT2|PRMT2	46907796|46907796	1.000000|1.000000	0.71417|0.71417	0.330000|0.330000	0.25442|0.25442	0.173000|0.173000	0.22820|0.22820	6.748000|6.748000	0.74877|0.74877	2.583000|2.583000	0.87209|0.87209	0.561000|0.561000	0.74099|0.74099	GGG|GGT	-	PRMT2	-	pfam_Arg_MeTrfase		0.552	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRMT2	HGNC	protein_coding	OTTHUMT00000207401.1	0	0	0	41	41	50	0.00	0.00	G	NM_001535		48083368	+1	18	18	37	54	tier1	no_errors	ENST00000355680	ensembl	human	known	74_37	missense	32.73	25.00	SNP	0.995	A	18	37
ATF6B	1388	genome.wustl.edu	37	6	32095994	32095994	+	5'UTR	SNP	C	C	T			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr6:32095994C>T	ENST00000375203.3	-	0	23				ATF6B_ENST00000375201.4_5'UTR|ATF6B_ENST00000468502.1_5'UTR	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta						response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCTTTCCCCCCCACCCCCCAA	0.602													ENSG00000213676																																					0													36.0	36.0	36.0					6																	32095994		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			-		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.-10G>A	6.37:g.32095994C>T			B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	R	SNP	-	NULL	ENST00000375203.3	37	NULL	CCDS4737.1	6																																																																																			-	ATF6B	-	-		0.602	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATF6B	HGNC	protein_coding	OTTHUMT00000076638.2	0	0	0	69	69	57	0.00	0.00	C			32095994	-1	20	13	76	36	tier1	no_errors	ENST00000468502	ensembl	human	known	74_37	rna	20.83	26.53	SNP	1.000	T	20	76
LOC100507002	100507002	genome.wustl.edu	37	17	63097118	63097118	+	lincRNA	SNP	C	C	A			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr17:63097118C>A	ENST00000582940.1	+	0	189																											CAATCCGGTACCAAGGCCGGC	0.612													ENSG00000263470																																					0																																												0			-																													17.37:g.63097118C>A				R	SNP	-	NULL	ENST00000582940.1	37	NULL		17																																																																																			-	RP11-160O5.1	-	-		0.612	RP11-160O5.1-001	KNOWN	basic	lincRNA	LOC100507002	Clone_based_vega_gene	lincRNA	OTTHUMT00000445723.1	0	0	0	45	45	89	0.00	0.00	C			63097118	+1	7	17	9	19	tier1	no_errors	ENST00000582940	ensembl	human	known	74_37	rna	43.75	47.22	SNP	0.999	A	7	9
MAP1S	55201	genome.wustl.edu	37	19	17838873	17838873	+	Missense_Mutation	SNP	C	C	T	rs554580208	byFrequency	TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr19:17838873C>T	ENST00000324096.4	+	5	2831	c.2680C>T	c.(2680-2682)Cgt>Tgt	p.R894C	MAP1S_ENST00000544059.2_Missense_Mutation_p.R868C|MAP1S_ENST00000597681.1_3'UTR|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	894	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGGTGGGGACCGTGCCAGCCG	0.687													ENSG00000130479	C|||	2	0.000399361	0.0	0.0	5008	,	,		12593	0.0		0.0	False		,,,				2504	0.002																0													10.0	12.0	11.0					19																	17838873		2106	4154	6260	SO:0001583	missense	0			-	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2680C>T	19.37:g.17838873C>T	ENSP00000325313:p.Arg894Cys		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	NULL	p.R894C	ENST00000324096.4	37	c.2680	CCDS32954.1	19	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677225	0.29783	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.21361	2.01;2.01	4.66	1.18	0.20946	.	0.310579	0.22649	N	0.057354	T	0.29321	0.0730	L	0.53249	1.67	0.09310	N	0.999996	D;D	0.76494	0.999;0.999	P;P	0.57960	0.83;0.649	T	0.07693	-1.0759	10	0.87932	D	0	-21.1952	5.8195	0.18520	0.3379:0.5689:0.0:0.0933	.	868;894	B4DH53;Q66K74	.;MAP1S_HUMAN	C	894;868	ENSP00000325313:R894C;ENSP00000439243:R868C	ENSP00000325313:R894C	R	+	1	0	MAP1S	17699873	0.033000	0.19621	0.014000	0.15608	0.055000	0.15305	-0.012000	0.12699	0.130000	0.18549	-0.150000	0.13652	CGT	-	MAP1S	-	NULL		0.687	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1S	HGNC	protein_coding	OTTHUMT00000466027.1	0	0	0	63	63	11	0.00	0.00	C	NM_018174		17838873	+1	19	3	107	15	tier1	no_errors	ENST00000324096	ensembl	human	known	74_37	missense	15.08	16.67	SNP	0.070	T	19	107
SLCO1B1	10599	genome.wustl.edu	37	12	21331641	21331641	+	Missense_Mutation	SNP	T	T	C			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr12:21331641T>C	ENST00000256958.2	+	6	709	c.613T>C	c.(613-615)Tct>Cct	p.S205P		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	205					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	AGAAGGACATTCTTCTTTGTA	0.323													ENSG00000134538																																					0													107.0	100.0	102.0					12																	21331641		2203	4300	6503	SO:0001583	missense	0			-		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.613T>C	12.37:g.21331641T>C	ENSP00000256958:p.Ser205Pro		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S205P	ENST00000256958.2	37	c.613	CCDS8685.1	12	.	.	.	.	.	.	.	.	.	.	T	10.30	1.311382	0.23821	.	.	ENSG00000134538	ENST00000256958	T	0.58506	0.33	3.71	1.16	0.20824	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.638139	0.16306	N	0.220204	T	0.75064	0.3799	M	0.93978	3.48	0.20307	N	0.999916	D	0.71674	0.998	D	0.76575	0.988	T	0.63559	-0.6610	10	0.66056	D	0.02	.	1.1099	0.01702	0.3952:0.0956:0.1573:0.3518	.	205	Q9Y6L6	SO1B1_HUMAN	P	205	ENSP00000256958:S205P	ENSP00000256958:S205P	S	+	1	0	SLCO1B1	21222908	0.030000	0.19436	0.343000	0.25615	0.366000	0.29705	0.317000	0.19487	0.111000	0.17947	0.260000	0.18958	TCT	-	SLCO1B1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.323	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	HGNC	protein_coding	OTTHUMT00000402070.1	0	0	0	101	101	100	0.00	0.00	T	NM_006446		21331641	+1	8	19	72	39	tier1	no_errors	ENST00000256958	ensembl	human	known	74_37	missense	10.00	32.76	SNP	0.090	C	8	72
PDE4DIP	9659	genome.wustl.edu	37	1	144856959	144856959	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr1:144856959G>T	ENST00000369354.3	-	40	6715	c.6526C>A	c.(6526-6528)Cat>Aat	p.H2176N	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.H2312N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H2261N|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H2176N|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H2070N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2176					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGCGGCCATGCTTATTGGCA	0.488			T	PDGFRB	MPD								ENSG00000178104																												Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													58.0	56.0	57.0					1																	144856959		2203	4296	6499	SO:0001583	missense	0			-	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6526C>A	1.37:g.144856959G>T	ENSP00000358360:p.His2176Asn		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.H2176N	ENST00000369354.3	37	c.6526	CCDS30824.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.21|10.21	1.287411|1.287411	0.23478|0.23478	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.01369|.	4.97;5.1;5.09;5.06;5.08|.	4.48|4.48	2.53|2.53	0.30540|0.30540	.|.	.|.	.|.	.|.	.|.	T|T	0.27169|0.27169	0.0666|0.0666	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	B;P|.	0.36616|.	0.0;0.561|.	B;B|.	0.32289|.	0.001;0.143|.	T|T	0.07252|0.07252	-1.0782|-1.0782	8|5	.|.	.|.	.|.	.|.	5.4373|5.4373	0.16488|0.16488	0.0972:0.0:0.5503:0.3524|0.0972:0.0:0.5503:0.3524	.|.	2070;2176|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	N|R	2070;2176;2176;2261;2312|252	ENSP00000327209:H2070N;ENSP00000358360:H2176N;ENSP00000358363:H2176N;ENSP00000435654:H2261N;ENSP00000358366:H2312N|.	.|.	H|S	-|-	1|3	0|2	PDE4DIP|PDE4DIP	143568316|143568316	0.372000|0.372000	0.25064|0.25064	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	1.189000|1.189000	0.32114|0.32114	0.427000|0.427000	0.26145|0.26145	0.449000|0.449000	0.29647|0.29647	CAT|AGC	-	PDE4DIP	-	NULL		0.488	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	0	0	0	525	525	52	0.00	0.00	G	NM_022359		144856959	-1	62	6	410	24	tier1	no_errors	ENST00000369356	ensembl	human	known	74_37	missense	13.11	20.00	SNP	0.985	T	62	410
ANP32BP1	646791	genome.wustl.edu	37	15	75614908	75614908	+	RNA	SNP	G	G	A			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr15:75614908G>A	ENST00000564205.1	-	0	126									acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 1																		GGATGGGGGAGAGGCATCCTG	0.667													ENSG00000259790																																					0																																												0			-			15q24.2	2014-02-12			ENSG00000259790	ENSG00000259790			24267	pseudogene	pseudogene							Standard	NG_022900		Approved				OTTHUMG00000172674		15.37:g.75614908G>A				R	SNP	-	NULL	ENST00000564205.1	37	NULL		15																																																																																			-	ANP32BP1	-	-		0.667	ANP32BP1-002	KNOWN	basic	processed_transcript	ANP32BP1	HGNC	pseudogene	OTTHUMT00000419801.1	0	0	0	69	69	10	0.00	0.00	G			75614908	-1	16	4	54	8	tier1	no_errors	ENST00000564205	ensembl	human	known	74_37	rna	22.86	33.33	SNP	0.170	A	16	54
CORO7	79585	genome.wustl.edu	37	16	4411430	4411430	+	Missense_Mutation	SNP	G	G	A	rs200682379	byFrequency	TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr16:4411430G>A	ENST00000251166.4	-	17	1764	c.1619C>T	c.(1618-1620)aCg>aTg	p.T540M	CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.T540M|CORO7_ENST00000574025.1_Missense_Mutation_p.T455M|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000537233.2_Missense_Mutation_p.T522M|CORO7_ENST00000539968.1_Missense_Mutation_p.T320M|CORO7_ENST00000423908.2_3'UTR	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	540					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						ATTCTGCAGCGTGGGCAGTGC	0.672													ENSG00000103426	G|||	4	0.000798722	0.0015	0.0	5008	,	,		17565	0.0		0.0	False		,,,				2504	0.002																0													50.0	53.0	52.0					16																	4411430		2196	4297	6493	SO:0001583	missense	0			GMAF=0.0005	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1619C>T	16.37:g.4411430G>A	ENSP00000251166:p.Thr540Met		B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T540M	ENST00000251166.4	37	c.1619	CCDS10513.1	16	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	28.3	4.910114	0.92107	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.66995	-0.24;-0.24	5.11	5.11	0.69529	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.118903	0.56097	D	0.000025	T	0.82089	0.4961	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.985;0.95;0.968;0.999;0.985	D	0.84173	0.0435	10	0.66056	D	0.02	-4.8731	18.1341	0.89612	0.0:0.0:1.0:0.0	.	455;522;320;540;521	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	M	540;455;320	ENSP00000251166:T540M;ENSP00000446221:T320M	ENSP00000251166:T540M	T	-	2	0	CORO7	4351431	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	9.739000	0.98837	2.373000	0.80994	0.561000	0.74099	ACG	rs200682379	CORO7-PAM16	-	smart_WD40_repeat,pfscan_WD40_repeat_dom		0.672	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	0	0	0	133	133	12	0.00	0.00	G	NM_024535		4411430	-1	40	2	75	6	tier1	no_errors	ENST00000572467	ensembl	human	known	74_37	missense	34.78	25.00	SNP	1.000	A	40	75
NPAS3	64067	genome.wustl.edu	37	14	34269971	34269971	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr14:34269971G>A	ENST00000356141.4	+	12	2458	c.2458G>A	c.(2458-2460)Gcg>Acg	p.A820T	NPAS3_ENST00000551492.1_Missense_Mutation_p.A825T|NPAS3_ENST00000357798.5_Missense_Mutation_p.A807T|NPAS3_ENST00000346562.2_Missense_Mutation_p.A788T|NPAS3_ENST00000548645.1_Missense_Mutation_p.A790T			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	820					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CAGCACGGCCGCGCAGAGGGT	0.697													ENSG00000151322																																					0													15.0	14.0	14.0					14																	34269971		2179	4279	6458	SO:0001583	missense	0			-	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2458G>A	14.37:g.34269971G>A	ENSP00000348460:p.Ala820Thr		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.A820T	ENST00000356141.4	37	c.2458	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209202	0.39003	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.08458	3.35;3.22;3.23;3.23;3.23;3.09	5.02	5.02	0.67125	.	0.124357	0.52532	D	0.000076	T	0.06234	0.0161	N	0.14661	0.345	0.80722	D	1	P;P;P;P	0.50710	0.78;0.672;0.78;0.938	B;B;B;B	0.37091	0.131;0.062;0.131;0.241	T	0.34354	-0.9832	10	0.72032	D	0.01	.	18.3405	0.90303	0.0:0.0:1.0:0.0	.	790;820;788;807	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	T	794;825;788;790;820;807	ENSP00000448373:A794T;ENSP00000450392:A825T;ENSP00000319610:A788T;ENSP00000448916:A790T;ENSP00000348460:A820T;ENSP00000350446:A807T	ENSP00000319610:A788T	A	+	1	0	NPAS3	33339722	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	3.645000	0.54389	2.310000	0.77875	0.484000	0.47621	GCG	-	NPAS3	-	NULL		0.697	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	0	0	0	22	22	5	0.00	0.00	G			34269971	+1	5	2	21	4	tier1	no_errors	ENST00000356141	ensembl	human	known	74_37	missense	19.23	33.33	SNP	0.998	A	5	21
PLEKHG5	57449	genome.wustl.edu	37	1	6529183	6529188	+	In_Frame_Del	DEL	TCCTCC	TCCTCC	-	rs201551894|rs201182604|rs386628081|rs375111412|rs113541584|rs62639695	byFrequency	TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	TCCTCC	TCCTCC	TCCTCC	-	TCCTCC	TCCTCC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr1:6529183_6529188delTCCTCC	ENST00000400915.3	-	20	2397_2402	c.2331_2336delGGAGGA	c.(2329-2337)gaggaggaa>gaa	p.777_779EEE>E	PLEKHG5_ENST00000400913.1_In_Frame_Del_p.721_723EEE>E|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.790_792EEE>E|TNFRSF25_ENST00000356876.3_5'Flank|TNFRSF25_ENST00000377782.3_5'Flank|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.721_723EEE>E|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.721_723EEE>E|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.721_723EEE>E|PLEKHG5_ENST00000377748.1_In_Frame_Del_p.798_800EEE>E|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.800_802EEE>E|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.798_800EEE>E|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.758_760EEE>E|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.721_723EEE>E|TNFRSF25_ENST00000351959.5_5'Flank|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.721_723EEE>E	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	777	Glu-rich.			Missing (in Ref. 6; BAC77354). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		Gtcctcgccttcctcctcctcctcct	0.631													ENSG00000171680																																					0																																										SO:0001651	inframe_deletion	0				AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.2331_2336delGGAGGA	1.37:g.6529189_6529194delTCCTCC	ENSP00000383706:p.Glu777_Glu778del		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	In_Frame_Del	DEL	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.EE801in_frame_del	ENST00000400915.3	37	c.2405_2400	CCDS41241.1	1																																																																																				PLEKHG5	-	NULL		0.631	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1	0	0	0	5	5	5	0.00	0.00	TCCTCC	NM_020631		6529188	-1	4	4	5	5	tier1	no_errors	ENST00000537245	ensembl	human	known	74_37	in_frame_del	44.44	44.44	DEL	0.152:0.271:0.391:0.513:0.634:0.754	-	4	5
TCIRG1	10312	genome.wustl.edu	37	11	67818126	67818126	+	Silent	SNP	G	G	A			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr11:67818126G>A	ENST00000265686.3	+	19	2517	c.2409G>A	c.(2407-2409)ctG>ctA	p.L803L	RP11-802E16.3_ENST00000526897.1_RNA|TCIRG1_ENST00000530802.1_Intron|TCIRG1_ENST00000532635.1_Silent_p.L587L|CHKA_ENST00000533728.1_5'Flank|RP11-802E16.3_ENST00000529934.1_RNA|RP11-802E16.3_ENST00000534517.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	803					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CCCTGCGGCTGCACTGGTGAG	0.627													ENSG00000110719																																					0													93.0	87.0	89.0					11																	67818126		2200	4294	6494	SO:0001819	synonymous_variant	0			-	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2409G>A	11.37:g.67818126G>A			O75877|Q8WVC5	Silent	SNP	pfam_V-ATPase_116kDa_su	p.L803	ENST00000265686.3	37	c.2409	CCDS8177.1	11																																																																																			-	TCIRG1	-	pfam_V-ATPase_116kDa_su		0.627	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCIRG1	HGNC	protein_coding	OTTHUMT00000394305.1	0	0	0	85	85	28	0.00	0.00	G	NM_006019		67818126	+1	4	0	45	7	tier1	no_errors	ENST00000265686	ensembl	human	known	74_37	silent	8.16	0.00	SNP	1.000	A	4	45
TNRC18	84629	genome.wustl.edu	37	7	5430009	5430011	+	Intron	DEL	AAG	AAG	-	rs34840801|rs368909449|rs377539951|rs373103246		TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr7:5430009_5430011delAAG	ENST00000430969.1	-	4	836				TNRC18_ENST00000399434.2_In_Frame_Del_p.L124del|TNRC18_ENST00000399537.4_Intron	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18								chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		aaaaaaaaaaaaGCCAGCATCCT	0.547													ENSG00000182095																																					0																																										SO:0001627	intron_variant	0				U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.487+104CTT>-	7.37:g.5430009_5430011delAAG			A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	NULL	p.L124in_frame_del	ENST00000430969.1	37	c.372_370	CCDS47534.1	7																																																																																				TNRC18	-	NULL		0.547	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		0	0	0	29	29	5	0.00	0.00	AAG			5430011	-1	4	0	32	0	tier1	no_errors	ENST00000399434	ensembl	human	putative	74_37	in_frame_del	11.11	0.00	DEL	0.694:0.670:0.633	-	4	32
EOMES	8320	genome.wustl.edu	37	3	27763427	27763428	+	In_Frame_Ins	INS	-	-	CGGCGC	rs368178421|rs1874198|rs3062761	byFrequency	TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr3:27763427_27763428insCGGCGC	ENST00000295743.4	-	1	561_562	c.358_359insGCGCCG	c.(358-360)gcc>gGCGCCGcc	p.119_120insGA	EOMES_ENST00000537516.1_Intron|EOMES_ENST00000449599.1_In_Frame_Ins_p.119_120insGA|EOMES_ENST00000461503.1_Intron			O95936	EOMES_HUMAN	eomesodermin	119	Ala-rich.		A -> G (in dbSNP:rs12715125).		brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ggcggcggcggctgcagcggcg	0.767													ENSG00000163508		2685	0.536142	0.3147	0.5274	5008	,	,		7250	0.8363		0.3837	False		,,,				2504	0.6892																0										101,91,844		44,2,11,38,13,410						-0.4	0.1		dbSNP_102	1	316,357,1963		136,0,44,143,71,924	no	codingComplex	EOMES	NM_005442.2		180,2,55,181,84,1334	A1A1,A1A2,A1R,A2A2,A2R,RR		25.5311,18.5328,23.5566				417,448,2807				SO:0001652	inframe_insertion	0				BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.358_359insGCGCCG	3.37:g.27763427_27763428insCGGCGC	ENSP00000295743:p.Ala119_Ala120insGlyAla		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	In_Frame_Ins	INS	pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.120in_frame_insGA	ENST00000295743.4	37	c.359_358	CCDS2646.1	3																																																																																				EOMES	-	NULL		0.767	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	HGNC	protein_coding	OTTHUMT00000252995.1	0	0	0	0	0	0	0.00	0.00	-	NM_005442		27763428	-1	0	0	0	0	tier1	no_errors	ENST00000449599	ensembl	human	known	74_37	in_frame_ins	0.00	0.00	INS	0.116:0.075	CGGCGC	0	0
ESPNP	284729	genome.wustl.edu	37	1	17026022	17026024	+	RNA	DEL	GGC	GGC	-			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr1:17026022_17026024delGGC	ENST00000492551.1	-	0	1424_1426					NR_026567.1				espin pseudogene																		CTCGGGCAGGggcggcggcggcg	0.803													ENSG00000268869																																					0																																												0				AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17026031_17026033delGGC				R	DEL	-	NULL	ENST00000492551.1	37	NULL		1																																																																																				ESPNP	-	-		0.803	ESPNP-002	KNOWN	basic	processed_transcript	ESPNP	HGNC	pseudogene	OTTHUMT00000326311.1	0	0	0	19	19	0	0.00	0.00	GGC			17026024	-1	2	0	21	0	tier1	no_errors	ENST00000492551	ensembl	human	known	74_37	rna	8.70	0.00	DEL	1.000:1.000:0.992	-	2	21
MRPL42	28977	genome.wustl.edu	37	12	93894747	93894748	+	Intron	INS	-	-	A			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr12:93894747_93894748insA	ENST00000549982.1	+	6	544				MRPL42_ENST00000552938.1_3'UTR|MRPL42_ENST00000393128.4_Intron|MRPL42_ENST00000361630.2_Intron|MRPL42_ENST00000552217.1_Intron	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42						translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						ccagtctctagaaaaaaaaaat	0.366													ENSG00000198015																																					0																																										SO:0001627	intron_variant	0				AB051626	CCDS9045.1	12q22	2014-02-12			ENSG00000198015	ENSG00000198015		"""Mitochondrial ribosomal proteins / large subunits"", ""Mitochondrial ribosomal proteins / small subunits"""	14493	protein-coding gene	gene with protein product	"""mitochondrial ribosomal protein S32"""	611847				11279123, 11042152	Standard	NM_014050		Approved	MRPS32, MRP-L31, RPML31, PTD007, HSPC204, MRPL31	uc001tcr.3	Q9Y6G3	OTTHUMG00000170157	ENST00000549982.1:c.384-204->A	12.37:g.93894757_93894757dupA			Q6FID1|Q96Q48|Q9P0S1	R	INS	-	NULL	ENST00000549982.1	37	NULL	CCDS9045.1	12																																																																																				MRPL42	-	-		0.366	MRPL42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPL42	HGNC	protein_coding	OTTHUMT00000407715.1	0	0	0	12	12	0	0.00	0.00	-	NM_014050		93894748	+1	3	0	12	0	tier1	no_errors	ENST00000552938	ensembl	human	putative	74_37	rna	20.00	0.00	INS	0.002:0.008	A	3	12
