#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_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_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
USP9X	8239	genome.wustl.edu	37	X	41082535	41082535	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chrX:41082535G>A	ENST00000324545.8	+	39	7264	c.6631G>A	c.(6631-6633)Gat>Aat	p.D2211N	USP9X_ENST00000378308.2_Missense_Mutation_p.D2211N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2211					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGTGTCTTTAGATGAAGGTCC	0.428																																					Ovarian(172;1807 2695 35459 49286)		0											0													158.0	143.0	148.0					X																	41082535		2199	4300	6499	SO:0001583	missense	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6631G>A	X.37:g.41082535G>A	ENSP00000316357:p.Asp2211Asn		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.D2211N	ENST00000324545.8	37	c.6631	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893489	0.91889	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.30714	1.52;1.52	5.4	4.54	0.55810	.	0.045682	0.85682	N	0.000000	T	0.53270	0.1786	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.66084	0.923;0.941	T	0.57499	-0.7801	10	0.66056	D	0.02	.	13.5765	0.61877	0.0769:0.0:0.9231:0.0	.	2211;2211	Q93008-1;Q93008	.;USP9X_HUMAN	N	2211	ENSP00000367558:D2211N;ENSP00000316357:D2211N	ENSP00000316357:D2211N	D	+	1	0	USP9X	40967479	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.472000	0.97709	1.052000	0.40392	-0.178000	0.13098	GAT	0	NULL		0.428	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	protein_coding	OTTHUMT00000056250.4	38	125	0	0.00	0	0	G	NM_004652	0	0		41082535	1	no_errors	ENST00000324545	ensembl	human	known	74_37	missense	21	65	53.33	43.48	24	50	SNP	1	A
DLG3	1741	genome.wustl.edu	37	X	69670114	69670114	+	Missense_Mutation	SNP	C	C	G			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chrX:69670114C>G	ENST00000374360.3	+	5	1032	c.799C>G	c.(799-801)Cag>Gag	p.Q267E	DLG3-AS1_ENST00000424211.1_RNA|DLG3-AS1_ENST00000431103.1_RNA|RNU4-81P_ENST00000363561.1_RNA|DLG3_ENST00000194900.4_Missense_Mutation_p.Q285E|DLG3_ENST00000374355.3_5'Flank	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	267	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGGTGCTGCTCAGAAGGATGG	0.572																																							0											0													42.0	33.0	36.0					X																	69670114		2203	4298	6501	SO:0001583	missense	0			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.799C>G	X.37:g.69670114C>G	ENSP00000363480:p.Gln267Glu		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.Q285E	ENST00000374360.3	37	c.853	CCDS14403.1	X	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948858	0.34377	.	.	ENSG00000082458	ENST00000194900;ENST00000374360	T;T	0.23754	1.89;1.89	4.48	4.48	0.54585	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	N	0.02403	-0.565	0.80722	D	1	D	0.57899	0.981	D	0.79784	0.993	T	0.41484	-0.9506	9	.	.	.	.	15.3401	0.74290	0.0:1.0:0.0:0.0	.	267	Q92796	DLG3_HUMAN	E	285;267	ENSP00000194900:Q285E;ENSP00000363480:Q267E	.	Q	+	1	0	DLG3	69586839	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.228000	0.78079	2.067000	0.61834	0.436000	0.28706	CAG	0	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ		0.572	DLG3-001	KNOWN	basic|CCDS	protein_coding	DLG3	protein_coding	OTTHUMT00000057074.2	33	64	0	0.00	0	0	C	NM_021120	0	0		69670114	1	no_errors	ENST00000194900	ensembl	human	known	74_37	missense	12	55	36.84	42.71	7	41	SNP	1	G
KIAA2022	340533	genome.wustl.edu	37	X	73963428	73963428	+	Silent	SNP	G	G	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chrX:73963428G>T	ENST00000055682.6	-	3	1575	c.964C>A	c.(964-966)Cga>Aga	p.R322R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	322					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.R322*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTCTTGTCTCGAACATTGTCC	0.438																																							0											1	Substitution - Nonsense(1)	large_intestine(1)											91.0	78.0	83.0					X																	73963428		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.964C>A	X.37:g.73963428G>T			A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	NULL	p.R322	ENST00000055682.6	37	c.964	CCDS35337.1	X																																																																																			0	NULL		0.438	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	protein_coding	OTTHUMT00000057270.2	16	124	0	0.00	0	0	G	NM_001008537	0	0		73963428	-1	no_errors	ENST00000055682	ensembl	human	known	74_37	silent	10	94	41.18	43.37	7	72	SNP	1	T
PLOD1	5351	genome.wustl.edu	37	1	12018611	12018611	+	Silent	SNP	C	C	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr1:12018611C>T	ENST00000196061.4	+	9	909	c.882C>T	c.(880-882)atC>atT	p.I294I	PLOD1_ENST00000376369.3_Silent_p.I341I|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	294					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	GCGTGTTCATCGAACAGCCCA	0.602																																							0											0													78.0	63.0	68.0					1																	12018611		2203	4300	6503	SO:0001819	synonymous_variant	0			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.882C>T	1.37:g.12018611C>T			B4DR87|Q96AV9|Q9H132	Silent	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.I341	ENST00000196061.4	37	c.1023	CCDS142.1	1																																																																																			0	NULL		0.602	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD1	protein_coding	OTTHUMT00000006865.1	29	153	0	0.00	0	0	C	NM_000302	0	0		12018611	1	no_errors	ENST00000376369	ensembl	human	known	74_37	silent	23	201	14.81	19.60	4	49	SNP	0.988	T
PPIEL	728448	genome.wustl.edu	37	1	40011539	40011539	+	RNA	SNP	G	G	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr1:40011539G>T	ENST00000440190.1	-	0	320				RP11-69E11.4_ENST00000417869.1_RNA																							CCTAGGTGCAGAAGAAATTGC	0.522																																							0											0																																												0																															1.37:g.40011539G>T				RNA	SNP	0	NULL	ENST00000440190.1	37	NULL		1																																																																																			0	0		0.522	RP11-69E11.4-003	KNOWN	basic	antisense	PPIEL	antisense	OTTHUMT00000025214.1	53	208	1.82	0.48	1	1	G		0	0		40011539	-1	no_errors	ENST00000440190	ensembl	human	known	74_37	rna	41	229	10.87	10.20	5	26	SNP	0.001	T
FPGT	8790	genome.wustl.edu	37	1	74665349	74665349	+	Splice_Site	SNP	C	C	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr1:74665349C>T	ENST00000609362.1	+	2	121	c.84C>T	c.(82-84)ggC>ggT	p.G28G	FPGT-TNNI3K_ENST00000370899.3_Splice_Site_p.G28G|TNNI3K_ENST00000370891.2_Splice_Site_p.G28G|LRRIQ3_ENST00000370909.2_5'Flank|FPGT_ENST00000482102.2_Splice_Site_p.G50G|FPGT_ENST00000467578.2_Splice_Site_p.G41G|LRRIQ3_ENST00000354431.4_5'Flank|FPGT_ENST00000370898.3_Splice_Site_p.G41G|LRRIQ3_ENST00000370911.3_5'Flank|FPGT-TNNI3K_ENST00000370893.1_Splice_Site_p.G28G|FPGT_ENST00000534056.1_Splice_Site_p.G28G|FPGT_ENST00000524915.1_3'UTR|FPGT-TNNI3K_ENST00000557284.2_Splice_Site_p.G41G|FPGT-TNNI3K_ENST00000370895.1_Splice_Site_p.G28G|FPGT_ENST00000370894.5_Splice_Site_p.G28G|FPGT-TNNI3K_ENST00000533006.1_3'UTR	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	28					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TCCAAATAGGCAAACTTGTAG	0.378																																							0											0													82.0	82.0	82.0					1																	74665349		2203	4300	6503	SO:0001630	splice_region_variant	0			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.83-1C>T	1.37:g.74665349C>T			A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G41	ENST00000609362.1	37	c.123	CCDS663.1	1																																																																																			0	NULL		0.378	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT-TNNI3K	protein_coding		64	278	0	0.00	0	0	C		0	0	Silent	74665349	1	no_errors	ENST00000557284	ensembl	human	known	74_37	silent	31	214	27.91	20.15	12	54	SNP	1	T
NGF	4803	genome.wustl.edu	37	1	115829263	115829263	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr1:115829263G>T	ENST00000369512.2	-	3	322	c.154C>A	c.(154-156)Cgc>Agc	p.R52S	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	52					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GGGGCGCTGCGGGCTCTGCGA	0.617																																							0											0													72.0	63.0	66.0					1																	115829263		2203	4300	6503	SO:0001583	missense	0				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.154C>A	1.37:g.115829263G>T	ENSP00000358525:p.Arg52Ser		A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel	p.R52S	ENST00000369512.2	37	c.154	CCDS882.1	1	.	.	.	.	.	.	.	.	.	.	G	9.129	1.010891	0.19277	.	.	ENSG00000134259	ENST00000369512	T	0.61040	0.14	5.36	4.43	0.53597	.	0.640939	0.15376	N	0.265581	T	0.37972	0.1023	L	0.50333	1.59	0.38562	D	0.949723	B	0.14805	0.011	B	0.17433	0.018	T	0.37150	-0.9718	10	0.54805	T	0.06	-5.512	13.0911	0.59167	0.0:0.1617:0.8383:0.0	.	52	P01138	NGF_HUMAN	S	52	ENSP00000358525:R52S	ENSP00000358525:R52S	R	-	1	0	NGF	115630786	0.998000	0.40836	0.897000	0.35233	0.033000	0.12548	2.605000	0.46283	1.216000	0.43427	0.467000	0.42956	CGC	0	pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor_bsu_mml		0.617	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGF	protein_coding	OTTHUMT00000032832.1	24	105	0	0.94	0	1	G	NM_002506	0	0		115829263	-1	no_errors	ENST00000369512	ensembl	human	known	74_37	missense	18	113	37.93	23.13	11	34	SNP	1	T
FLG	2312	genome.wustl.edu	37	1	152278164	152278164	+	Silent	SNP	C	C	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr1:152278164C>T	ENST00000368799.1	-	3	9233	c.9198G>A	c.(9196-9198)gtG>gtA	p.V3066V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3066	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGAGTGCTCACCTGGTAGA	0.602									Ichthyosis																														0											0																																										SO:0001819	synonymous_variant	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9198G>A	1.37:g.152278164C>T			Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.V3066	ENST00000368799.1	37	c.9198	CCDS30860.1	1																																																																																			0	NULL		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	21	5	0	0.00	0	0	C	NM_002016	0	0		152278164	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	silent	5	1	44.44	80.00	4	4	SNP	0	T
ASH1L	55870	genome.wustl.edu	37	1	155316166	155316166	+	Intron	SNP	C	C	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr1:155316166C>T	ENST00000368346.3	-	21	8545				ASH1L_ENST00000392403.3_Intron|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)						cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATCAGAGGTTCAGCTTACCCT	0.468																																							0											0													192.0	163.0	173.0					1																	155316166		2203	4300	6503	SO:0001627	intron_variant	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7905+7G>A	1.37:g.155316166C>T			Q59GP1|Q5T714|Q5T715|Q9P2C7	RNA	SNP	0	NULL	ENST00000368346.3	37	NULL		1																																																																																			0	0		0.468	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MIR555	protein_coding	OTTHUMT00000039400.1	64	221	0	0.00	0	0	C	NM_018489	0	0		155316166	-1	no_errors	ENST00000384987	ensembl	human	known	74_37	rna	64	307	13.51	17.69	10	66	SNP	0.001	T
INTS7	25896	genome.wustl.edu	37	1	212141959	212141959	+	Missense_Mutation	SNP	A	A	C			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr1:212141959A>C	ENST00000366994.3	-	14	2010	c.1906T>G	c.(1906-1908)Tgt>Ggt	p.C636G	INTS7_ENST00000440600.2_Missense_Mutation_p.C587G|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.C636G|INTS7_ENST00000366993.3_Missense_Mutation_p.C636G	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	636					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TTACAAGTACAGATAAGTTGA	0.438																																							0											0													130.0	116.0	121.0					1																	212141959		2203	4300	6503	SO:0001583	missense	0			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1906T>G	1.37:g.212141959A>C	ENSP00000355961:p.Cys636Gly		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.C587G	ENST00000366994.3	37	c.1759	CCDS1501.1	1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.666311	0.47677	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.64085	0.95;0.95;0.96;-0.08	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.71384	0.3333	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.78314	0.986;0.991;0.986;0.991	T	0.68239	-0.5461	10	0.27082	T	0.32	-13.8101	15.2636	0.73643	1.0:0.0:0.0:0.0	.	587;636;636;636	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	G	636;636;636;587	ENSP00000355961:C636G;ENSP00000355960:C636G;ENSP00000355959:C636G;ENSP00000388908:C587G	ENSP00000355959:C636G	C	-	1	0	INTS7	210208582	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	8.999000	0.93557	2.016000	0.59253	0.533000	0.62120	TGT	0	NULL		0.438	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	protein_coding	OTTHUMT00000090142.1	42	269	0	0.00	0	0	A	NM_015434	0	0		212141959	-1	no_errors	ENST00000440600	ensembl	human	known	74_37	missense	48	316	20	16.09	12	61	SNP	1	C
TBCE	6905	genome.wustl.edu	37	1	235577839	235577839	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr1:235577839G>A	ENST00000366601.3	+	4	453	c.277G>A	c.(277-279)Gat>Aat	p.D93N	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.D93N|TBCE_ENST00000543662.1_Missense_Mutation_p.D93N			Q15813	TBCE_HUMAN	tubulin folding cofactor E	93					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TGTGTTAGAAGATGGACCAGA	0.393																																							0											0													107.0	107.0	107.0					1																	235577839		2203	4299	6502	SO:0001583	missense	0			U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.277G>A	1.37:g.235577839G>A	ENSP00000355560:p.Asp93Asn		A8K8C2|B7Z3P1	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Ribosomal_S21e,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.D93N	ENST00000366601.3	37	c.277	CCDS1605.1	1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637218	0.29157	.	.	ENSG00000116957	ENST00000366601;ENST00000406207;ENST00000543662	T;T;T	0.42900	0.96;0.96;0.96	5.57	4.64	0.57946	Cytoskeleton-associated protein, Gly-rich domain (1);	0.460251	0.26586	N	0.023553	T	0.33614	0.0869	L	0.60455	1.87	0.37627	D	0.921533	P;B	0.34934	0.476;0.011	B;B	0.28011	0.085;0.026	T	0.19910	-1.0291	10	0.21014	T	0.42	-19.1072	10.6677	0.45741	0.1525:0.0:0.8475:0.0	.	93;93	B7Z3P1;Q15813	.;TBCE_HUMAN	N	93	ENSP00000355560:D93N;ENSP00000384571:D93N;ENSP00000439170:D93N	ENSP00000355560:D93N	D	+	1	0	TBCE	233644462	1.000000	0.71417	0.879000	0.34478	0.326000	0.28443	3.268000	0.51585	2.784000	0.95788	0.585000	0.79938	GAT	0	superfamily_CAP-Gly_domain		0.393	TBCE-001	KNOWN	basic|CCDS	protein_coding	TBCE	protein_coding	OTTHUMT00000096458.3	182	352	0	0.28	0	1	G	NM_003193	0	0		235577839	1	no_errors	ENST00000543662	ensembl	human	known	74_37	missense	116	363	11.45	18.24	15	81	SNP	0.979	A
TMEM87B	84910	genome.wustl.edu	37	2	112854654	112854654	+	Silent	SNP	C	C	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr2:112854654C>T	ENST00000283206.4	+	12	1507	c.1138C>T	c.(1138-1140)Cta>Tta	p.L380L	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	380						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TATGAAGACCCTAAGGCTAAG	0.279																																							0											0													87.0	99.0	95.0					2																	112854654		2196	4293	6489	SO:0001819	synonymous_variant	0			AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.1138C>T	2.37:g.112854654C>T			A8K2M9|Q1RLN2|Q53R54	Silent	SNP	pfam_TM_rcpt_euk	p.L380	ENST00000283206.4	37	c.1138	CCDS33275.1	2																																																																																			0	pfam_TM_rcpt_euk		0.279	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM87B	protein_coding	OTTHUMT00000330500.1	58	318	0	0.00	0	0	C	NM_032824	0	0		112854654	1	no_errors	ENST00000283206	ensembl	human	known	74_37	silent	27	193	15.62	22.49	5	56	SNP	1	T
EPB41L5	57669	genome.wustl.edu	37	2	120932475	120932475	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr2:120932475G>A	ENST00000263713.5	+	25	2408	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	EPB41L5_ENST00000452780.1_Missense_Mutation_p.E731K|EPB41L5_ENST00000443902.2_Silent_p.*688*|AC012363.4_ENST00000455707.1_RNA	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	732					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						ACTGACCACTGAGCTCTGAGG	0.502																																							0											0													190.0	189.0	190.0					2																	120932475		2203	4300	6503	SO:0001583	missense	0			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.2194G>A	2.37:g.120932475G>A	ENSP00000263713:p.Glu732Lys		Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.E732K	ENST00000263713.5	37	c.2194	CCDS2130.1	2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826908	0.90955	.	.	ENSG00000115109	ENST00000263713;ENST00000452780	D;D	0.87729	-2.25;-2.29	5.03	5.03	0.67393	.	0.000000	0.52532	D	0.000065	D	0.93058	0.7790	.	.	.	0.44194	D	0.997017	D;D	0.76494	0.993;0.999	D;D	0.80764	0.91;0.994	D	0.93370	0.6734	9	0.72032	D	0.01	.	14.0644	0.64819	0.0:0.0:1.0:0.0	.	731;732	Q9HCM4-3;Q9HCM4	.;E41L5_HUMAN	K	732;731	ENSP00000263713:E732K;ENSP00000390439:E731K	ENSP00000263713:E732K	E	+	1	0	EPB41L5	120648945	1.000000	0.71417	0.994000	0.49952	0.840000	0.47671	4.411000	0.59781	2.771000	0.95319	0.563000	0.77884	GAG	0	NULL		0.502	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	EPB41L5	protein_coding	OTTHUMT00000254230.2	58	180	0	0.00	0	0	G	NM_020909	0	0		120932475	1	no_errors	ENST00000263713	ensembl	human	known	74_37	missense	32	137	28.89	29.74	13	58	SNP	0.994	A
COL5A2	1290	genome.wustl.edu	37	2	189951463	189951463	+	Missense_Mutation	SNP	G	G	C			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr2:189951463G>C	ENST00000374866.3	-	9	953	c.679C>G	c.(679-681)Caa>Gaa	p.Q227E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	227					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGCTGTCCTTGTAAACCCTGT	0.363																																							0											0													46.0	43.0	44.0					2																	189951463		2203	4297	6500	SO:0001583	missense	0			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.679C>G	2.37:g.189951463G>C	ENSP00000364000:p.Gln227Glu		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.Q227E	ENST00000374866.3	37	c.679	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142142	0.77775	.	.	ENSG00000204262	ENST00000374866	D	0.93426	-3.22	5.86	5.86	0.93980	.	0.000000	0.52532	D	0.000077	D	0.90386	0.6991	L	0.44542	1.39	0.41071	D	0.985456	P	0.38167	0.621	B	0.36845	0.234	D	0.89028	0.3440	9	.	.	.	.	17.1099	0.86673	0.0:0.0:1.0:0.0	.	227	P05997	CO5A2_HUMAN	E	227	ENSP00000364000:Q227E	.	Q	-	1	0	COL5A2	189659708	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.050000	0.71063	2.771000	0.95319	0.563000	0.77884	CAA	0	pfam_Collagen		0.363	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	protein_coding	OTTHUMT00000313523.1	103	288	0	0.35	0	1	G	NM_000393	0	0		189951463	-1	no_errors	ENST00000374866	ensembl	human	known	74_37	missense	66	275	12	20.75	9	72	SNP	1	C
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		0		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)											81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	0	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	50	200	0	0.98	0	2	G		rs121913499	G->A,T		209113113	-1	no_errors	ENST00000345146	ensembl	human	known	74_37	missense	37	166	15.91	24.20	7	53	SNP	1	A
TGFBR2	7048	genome.wustl.edu	37	3	30733031	30733031	+	Silent	SNP	G	G	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr3:30733031G>A	ENST00000295754.5	+	7	2026	c.1644G>A	c.(1642-1644)tcG>tcA	p.S548S	TGFBR2_ENST00000359013.4_Silent_p.S573S	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	548					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ACAGGCTCTCGGGGAGGAGCT	0.597																																							0											0													90.0	91.0	91.0					3																	30733031		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1644G>A	3.37:g.30733031G>A			B4DTV5|Q15580|Q6DKT6|Q99474	Silent	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.S573	ENST00000295754.5	37	c.1719	CCDS2648.1	3																																																																																			0	pirsf_Transform_growth_fac-b_typ-2		0.597	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	protein_coding	OTTHUMT00000252994.2	34	125	0	0.00	0	0	G		0	0		30733031	1	no_errors	ENST00000359013	ensembl	human	known	74_37	silent	21	153	38.24	20.31	13	39	SNP	0.021	A
RASSF1	11186	genome.wustl.edu	37	3	50369585	50369585	+	Splice_Site	SNP	C	C	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr3:50369585C>T	ENST00000357043.2	-	3	405	c.370G>A	c.(370-372)Gac>Aac	p.D124N	RASSF1_ENST00000327761.3_Splice_Site_p.D50N|RASSF1_ENST00000395126.3_5'UTR|RASSF1_ENST00000359365.4_Splice_Site_p.D120N					Ras association (RalGDS/AF-6) domain family member 1											lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACAGGCTCGTCCTGCAAGATG	0.537																																							0											0													85.0	69.0	75.0					3																	50369585		2203	4300	6503	SO:0001630	splice_region_variant	0			AF132675	CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1	3p21.3	2008-02-22	2008-02-22		ENSG00000068028	ENSG00000068028			9882	protein-coding gene	gene with protein product		605082					Standard	NM_170713		Approved	NORE2A, REH3P21, RDA32, 123F2	uc003dad.1	Q9NS23	OTTHUMG00000149958	ENST00000357043.2:c.370-1G>A	3.37:g.50369585C>T				Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.D124N	ENST00000357043.2	37	c.370	CCDS2820.1	3	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100705	0.76983	.	.	ENSG00000068028	ENST00000327761;ENST00000357043;ENST00000359365	T;T;T	0.78126	2.66;-1.15;-1.14	5.66	5.66	0.87406	.	0.048357	0.85682	D	0.000000	T	0.80513	0.4637	L	0.53249	1.67	0.80722	D	1	P;D;B	0.55800	0.749;0.973;0.409	B;P;B	0.49528	0.393;0.614;0.082	T	0.80989	-0.1136	10	0.49607	T	0.09	-23.0345	18.3147	0.90215	0.0:1.0:0.0:0.0	.	120;124;50	Q9NS23-2;Q9NS23;Q5TZT2	.;RASF1_HUMAN;.	N	50;124;120	ENSP00000333327:D50N;ENSP00000349547:D124N;ENSP00000352323:D120N	ENSP00000333327:D50N	D	-	1	0	RASSF1	50344589	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	7.547000	0.82146	2.667000	0.90743	0.462000	0.41574	GAC	0	NULL		0.537	RASSF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASSF1	protein_coding	OTTHUMT00000314304.1	77	151	0	0.00	0	0	C		0	0	Missense_Mutation	50369585	-1	no_errors	ENST00000357043	ensembl	human	known	74_37	missense	59	195	14.49	24.42	10	63	SNP	1	T
PHLDB2	90102	genome.wustl.edu	37	3	111685490	111685490	+	Silent	SNP	A	A	G			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr3:111685490A>G	ENST00000431670.2	+	14	3519	c.3108A>G	c.(3106-3108)gaA>gaG	p.E1036E	PHLDB2_ENST00000393925.3_Silent_p.E1036E|PHLDB2_ENST00000393923.3_Silent_p.E1020E|PHLDB2_ENST00000495180.1_Silent_p.E527E|PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000481953.1_Silent_p.E993E|PHLDB2_ENST00000412622.1_Silent_p.E993E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1036						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTAGAATAGAAGAAATGGAGA	0.423																																							0											0													83.0	92.0	89.0					3																	111685490		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3108A>G	3.37:g.111685490A>G			A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E1036	ENST00000431670.2	37	c.3108	CCDS46886.1	3																																																																																			0	NULL		0.423	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	protein_coding	OTTHUMT00000354337.1	44	155	0	0.00	0	0	A	NM_145753	0	0		111685490	1	no_errors	ENST00000393925	ensembl	human	known	74_37	silent	27	146	12.9	31.46	4	67	SNP	1	G
UBA5	79876	genome.wustl.edu	37	3	132379501	132379501	+	Missense_Mutation	SNP	C	C	G			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr3:132379501C>G	ENST00000356232.4	+	1	1192	c.120C>G	c.(118-120)atC>atG	p.I40M	UBA5_ENST00000493720.2_Missense_Mutation_p.I40M|UBA5_ENST00000480955.1_3'UTR|UBA5_ENST00000473651.1_Missense_Mutation_p.I40M|ACAD11_ENST00000481970.2_5'Flank|ACAD11_ENST00000489991.1_5'Flank|ACAD11_ENST00000545291.1_5'Flank|ACAD11_ENST00000355458.3_5'Flank|UBA5_ENST00000494238.2_5'UTR|ACAD11_ENST00000264990.6_5'UTR|UBA5_ENST00000264991.4_Intron	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	40					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGGTCCGCATCGAGAAGATGA	0.687																																							0											0													33.0	36.0	35.0					3																	132379501		2177	4266	6443	SO:0001583	missense	0			AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.120C>G	3.37:g.132379501C>G	ENSP00000348565:p.Ile40Met		A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB	p.I40M	ENST00000356232.4	37	c.120	CCDS3076.1	3	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565151	0.65651	.	.	ENSG00000081307	ENST00000356232;ENST00000493720;ENST00000473651	D;D;D	0.84516	-1.86;-1.82;-1.79	4.83	1.03	0.20045	Molybdenum cofactor biosynthesis, MoeB (1);	0.051508	0.85682	D	0.000000	T	0.80204	0.4580	M	0.76574	2.34	0.80722	D	1	P;P	0.36048	0.534;0.49	B;B	0.35312	0.152;0.2	T	0.72724	-0.4207	10	0.62326	D	0.03	-1.4172	3.2487	0.06806	0.1421:0.5707:0.137:0.1501	.	40;40	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	M	40	ENSP00000348565:I40M;ENSP00000417879:I40M;ENSP00000424984:I40M	ENSP00000348565:I40M	I	+	3	3	UBA5	133862191	1.000000	0.71417	0.988000	0.46212	0.831000	0.47069	1.018000	0.30002	0.006000	0.14734	-0.268000	0.10319	ATC	0	superfamily_Molybdenum_cofac_synth_MoeB		0.687	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA5	protein_coding	OTTHUMT00000357187.2	54	67	0	0.00	0	0	C	NM_024818	0	0		132379501	1	no_errors	ENST00000356232	ensembl	human	known	74_37	missense	52	83	28.77	17.00	21	17	SNP	0.999	G
PLCH1	23007	genome.wustl.edu	37	3	155200470	155200470	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr3:155200470C>A	ENST00000340059.7	-	23	3368	c.3369G>T	c.(3367-3369)ttG>ttT	p.L1123F	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.L1085F|PLCH1_ENST00000460012.1_Missense_Mutation_p.L1085F|PLCH1_ENST00000414191.1_Missense_Mutation_p.L1085F|PLCH1_ENST00000447496.2_3'UTR	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1123					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CGCTTCCTGACAAGATGCTTT	0.463																																							0											0													93.0	88.0	89.0					3																	155200470		2203	4300	6503	SO:0001583	missense	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3369G>T	3.37:g.155200470C>A	ENSP00000345988:p.Leu1123Phe		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.L1123F	ENST00000340059.7	37	c.3369	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237942	0.22711	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.25	-3.36	0.04913	.	3.376680	0.00550	N	0.000248	T	0.31575	0.0801	L	0.29908	0.895	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.15052	0.012;0.004	T	0.12811	-1.0533	10	0.42905	T	0.14	.	1.3617	0.02193	0.4246:0.2084:0.0913:0.2757	.	1085;1123	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	F	1085;1123;1085;1085	ENSP00000417502:L1085F;ENSP00000345988:L1123F;ENSP00000335469:L1085F;ENSP00000412977:L1085F	ENSP00000335469:L1085F	L	-	3	2	PLCH1	156683164	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-0.098000	0.11024	-0.276000	0.09206	-0.229000	0.12294	TTG	0	NULL		0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	protein_coding	OTTHUMT00000351125.1	75	280	0	0.00	0	0	C	NM_014996	0	0		155200470	-1	no_errors	ENST00000340059	ensembl	human	known	74_37	missense	42	234	23.64	18.06	13	52	SNP	0	A
GPR125	166647	genome.wustl.edu	37	4	22456539	22456539	+	Silent	SNP	T	T	G			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr4:22456539T>G	ENST00000334304.5	-	4	692	c.423A>C	c.(421-423)atA>atC	p.I141I	GPR125_ENST00000502482.1_Silent_p.I141I|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	141					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCAGACATCCTATTCGATTGT	0.388																																							0											0													140.0	128.0	132.0					4																	22456539		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.423A>C	4.37:g.22456539T>G			Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.I141	ENST00000334304.5	37	c.423	CCDS33964.1	4																																																																																			0	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.388	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	protein_coding	OTTHUMT00000362960.3	94	287	0	0.00	0	0	T		0	0		22456539	-1	no_errors	ENST00000334304	ensembl	human	known	74_37	silent	50	191	24.24	29.82	16	82	SNP	1	G
KLF3	51274	genome.wustl.edu	37	4	38696483	38696483	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr4:38696483A>G	ENST00000261438.5	+	5	1117	c.812A>G	c.(811-813)tAc>tGc	p.Y271C		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	271					cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|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)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AACAAAGTGTACACTAAAAGC	0.433																																							0											0													116.0	103.0	107.0					4																	38696483		2203	4300	6503	SO:0001583	missense	0			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.812A>G	4.37:g.38696483A>G	ENSP00000261438:p.Tyr271Cys		Q6PIR1|Q86TN0|Q9P2X6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y271C	ENST00000261438.5	37	c.812	CCDS3444.1	4	.	.	.	.	.	.	.	.	.	.	A	27.6	4.845355	0.91197	.	.	ENSG00000109787	ENST00000261438	T	0.36520	1.25	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.63988	0.2558	M	0.81614	2.55	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.68112	-0.5495	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	271	P57682	KLF3_HUMAN	C	271	ENSP00000261438:Y271C	ENSP00000261438:Y271C	Y	+	2	0	KLF3	38372878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	TAC	0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF3	protein_coding	OTTHUMT00000215093.2	113	270	0	0.37	0	1	A		0	0		38696483	1	no_errors	ENST00000261438	ensembl	human	known	74_37	missense	63	239	17.11	25.08	13	80	SNP	1	G
GRIA2	2891	genome.wustl.edu	37	4	158242692	158242692	+	Missense_Mutation	SNP	G	G	C			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr4:158242692G>C	ENST00000264426.9	+	6	1102	c.823G>C	c.(823-825)Gaa>Caa	p.E275Q	GRIA2_ENST00000449365.1_Missense_Mutation_p.E228Q|GRIA2_ENST00000296526.7_Missense_Mutation_p.E275Q|GRIA2_ENST00000393815.2_Missense_Mutation_p.E228Q|GRIA2_ENST00000507898.1_Missense_Mutation_p.E228Q	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	275					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TAAATTTATAGAAAGATGGTC	0.353																																							0											0													145.0	154.0	151.0					4																	158242692		2203	4300	6503	SO:0001583	missense	0				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.823G>C	4.37:g.158242692G>C	ENSP00000264426:p.Glu275Gln		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E275Q	ENST00000264426.9	37	c.823	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	G	5.253	0.232061	0.09969	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	5.46	3.7	0.42460	Extracellular ligand-binding receptor (1);	0.059005	0.64402	D	0.000002	T	0.45135	0.1327	N	0.00263	-1.745	0.43069	D	0.994707	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.55153	-0.8185	10	0.02654	T	1	.	8.3261	0.32158	0.0975:0.3812:0.5213:0.0	.	275;275;228	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	Q	228;228;275;275;228	ENSP00000426845:E228Q;ENSP00000377403:E228Q;ENSP00000296526:E275Q;ENSP00000264426:E275Q;ENSP00000389837:E228Q	ENSP00000264426:E275Q	E	+	1	0	GRIA2	158462142	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.089000	0.64492	1.301000	0.44836	0.591000	0.81541	GAA	0	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.353	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	protein_coding	OTTHUMT00000258367.2	90	293	0	0.00	0	0	G		0	0		158242692	1	no_errors	ENST00000264426	ensembl	human	known	74_37	missense	38	213	40.62	22.83	26	63	SNP	1	C
HIST1H2AD	3013	genome.wustl.edu	37	6	26199368	26199368	+	Missense_Mutation	SNP	A	A	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr6:26199368A>T	ENST00000341023.1	-	1	103	c.104T>A	c.(103-105)cTc>cAc	p.L35H	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	35						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				GCCCTTGCGGAGCAAGCGGTG	0.687																																							0											0													25.0	29.0	28.0					6																	26199368		2203	4300	6503	SO:0001583	missense	0			Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"""Histones / Replication-dependent"""	4729	protein-coding gene	gene with protein product		602792	"""H2A histone family, member G"", ""histone 1, H2ad"""	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.104T>A	6.37:g.26199368A>T	ENSP00000341094:p.Leu35His		A0PK91|P57754|Q6FGY6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.L35H	ENST00000341023.1	37	c.104	CCDS4591.1	6	.	.	.	.	.	.	.	.	.	.	.	12.65	2.002346	0.35320	.	.	ENSG00000196866	ENST00000341023	T	0.61274	0.12	4.61	4.61	0.57282	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.38111	U	0.001805	D	0.83968	0.5369	H	0.99642	4.675	0.35241	D	0.777784	D	0.89917	1.0	D	0.97110	1.0	D	0.91288	0.5057	10	0.87932	D	0	.	13.4598	0.61221	1.0:0.0:0.0:0.0	.	35	P20671	H2A1D_HUMAN	H	35	ENSP00000341094:L35H	ENSP00000341094:L35H	L	-	2	0	HIST1H2AD	26307347	1.000000	0.71417	0.207000	0.23584	0.004000	0.04260	9.090000	0.94144	1.832000	0.53329	0.533000	0.62120	CTC	0	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.687	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AD	protein_coding	OTTHUMT00000040100.1	35	43	0	0.00	0	0	A	NM_021065	0	0		26199368	-1	no_errors	ENST00000341023	ensembl	human	known	74_37	missense	18	50	21.74	19.05	5	12	SNP	1	T
GPANK1	7918	genome.wustl.edu	37	6	31630408	31630408	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr6:31630408G>A	ENST00000375906.1	-	4	1390	c.706C>T	c.(706-708)Cac>Tac	p.H236Y	GPANK1_ENST00000375896.4_Missense_Mutation_p.H236Y|GPANK1_ENST00000375900.4_Missense_Mutation_p.H236Y|C6orf47-AS1_ENST00000422049.1_RNA|CSNK2B_ENST00000375885.4_5'Flank|GPANK1_ENST00000375893.2_Missense_Mutation_p.H236Y|C6orf47_ENST00000375911.1_5'Flank|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375895.2_Missense_Mutation_p.H236Y	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	236							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						GACAGCAGGTGAGCAGTGGAT	0.587																																							0											0													62.0	69.0	66.0					6																	31630408		1509	2707	4216	SO:0001583	missense	0				CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.706C>T	6.37:g.31630408G>A	ENSP00000365071:p.His236Tyr		A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_Ankyrin_rpt-contain_dom,smart_G_patch_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_G_patch_dom	p.H236Y	ENST00000375906.1	37	c.706	CCDS4711.1	6	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851058	0.71719	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	L	0.34521	1.04	0.58432	D	0.999996	B	0.34290	0.447	B	0.27262	0.078	T	0.26916	-1.0089	10	0.87932	D	0	-4.2057	15.4974	0.75666	0.0:0.0:1.0:0.0	.	236	O95872	GPAN1_HUMAN	Y	236	ENSP00000365071:H236Y;ENSP00000365060:H236Y;ENSP00000365057:H236Y;ENSP00000365059:H236Y;ENSP00000365065:H236Y	ENSP00000365057:H236Y	H	-	1	0	GPANK1	31738387	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.190000	0.77755	2.519000	0.84933	0.655000	0.94253	CAC	0	NULL		0.587	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPANK1	protein_coding	OTTHUMT00000144445.2	23	118	0	0.84	0	1	G	NM_033177	0	0		31630408	-1	no_errors	ENST00000375893	ensembl	human	known	74_37	missense	12	138	25	21.02	4	37	SNP	1	A
HLA-DRB6	3128	genome.wustl.edu	37	6	32522722	32522722	+	RNA	SNP	C	C	A	rs373838979		TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr6:32522722C>A	ENST00000411500.1	-	0	484					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TGGGTCTTTGCAGGATACACA	0.488																																							0											0																																												0			L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522722C>A				RNA	SNP	0	NULL	ENST00000411500.1	37	NULL		6																																																																																			0	0		0.488	HLA-DRB6-002	KNOWN	basic	processed_transcript	HLA-DRB6	pseudogene	OTTHUMT00000272900.1	39	57	0	1.72	0	1	C	NR_001298	rs373838979	C->A		32522722	-1	no_errors	ENST00000411500	ensembl	human	known	74_37	rna	38	74	9.52	5.13	4	4	SNP	0.881	A
TAP1	6890	genome.wustl.edu	37	6	32820828	32820828	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr6:32820828G>A	ENST00000354258.4	-	1	927	c.766C>T	c.(766-768)Ctc>Ttc	p.L256F	TAP1_ENST00000425148.2_5'Flank|PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000453265.2_5'Flank|PSMB9_ENST00000374859.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	256	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	AGAGAGGAGAGGACCACCAGG	0.627																																							0											0													21.0	25.0	24.0					6																	32820828		1490	2692	4182	SO:0001583	missense	0				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.766C>T	6.37:g.32820828G>A	ENSP00000346206:p.Leu256Phe		Q16149|Q96CP4	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B2,tigrfam_Ag_transporter2	p.L256F	ENST00000354258.4	37	c.766	CCDS4758.1	6	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327975	0.24080	.	.	ENSG00000168394	ENST00000354258	D	0.91631	-2.88	4.53	1.31	0.21738	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	.	.	.	.	D	0.86834	0.6028	M	0.79475	2.455	0.51767	D	0.999935	P	0.35844	0.524	B	0.42112	0.376	D	0.84164	0.0430	9	0.72032	D	0.01	-3.2704	2.4795	0.04584	0.2746:0.0:0.4877:0.2378	.	256	Q03518	TAP1_HUMAN	F	256	ENSP00000346206:L256F	ENSP00000346206:L256F	L	-	1	0	TAP1	32928806	0.988000	0.35896	0.393000	0.26258	0.151000	0.21798	2.033000	0.41136	0.433000	0.26313	0.643000	0.83706	CTC	0	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,prints_ABC_B2,tigrfam_Ag_transporter2		0.627	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAP1	protein_coding	OTTHUMT00000076087.2	41	159	0	0.62	0	1	G	NM_000593	0	0		32820828	-1	no_errors	ENST00000354258	ensembl	human	known	74_37	missense	24	168	35.14	20.00	13	42	SNP	0.279	A
AIM1	202	genome.wustl.edu	37	6	107003662	107003662	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr6:107003662G>A	ENST00000369066.3	+	15	4868	c.4381G>A	c.(4381-4383)Gaa>Aaa	p.E1461K	AIM1_ENST00000535438.1_Missense_Mutation_p.E280K	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ATATGATGGAGAAAATTTCAC	0.428																																							0											0													226.0	211.0	216.0					6																	107003662		2203	4300	6503	SO:0001583	missense	0			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4381G>A	6.37:g.107003662G>A	ENSP00000358062:p.Glu1461Lys		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E1461K	ENST00000369066.3	37	c.4381	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	9.902	1.207137	0.22205	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.76060	-0.99;-0.99;-0.99	5.35	5.35	0.76521	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.320203	0.37219	N	0.002194	T	0.65396	0.2687	L	0.53729	1.69	0.35186	D	0.772938	B;B	0.29766	0.256;0.115	B;B	0.40982	0.262;0.345	T	0.65142	-0.6240	10	0.30078	T	0.28	.	13.7089	0.62656	0.0741:0.0:0.9259:0.0	.	280;1461	B4DU04;Q9Y4K1	.;AIM1_HUMAN	K	1461;280;280	ENSP00000358062:E1461K;ENSP00000391419:E280K;ENSP00000439183:E280K	ENSP00000358062:E1461K	E	+	1	0	AIM1	107110355	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.231000	0.51294	2.665000	0.90641	0.650000	0.86243	GAA	0	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.428	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	protein_coding	OTTHUMT00000041669.1	97	315	0	0.32	0	1	G		0	0		107003662	1	no_errors	ENST00000369066	ensembl	human	known	74_37	missense	51	255	17.74	25.44	11	87	SNP	1	A
GIMAP8	155038	genome.wustl.edu	37	7	150174507	150174507	+	Missense_Mutation	SNP	C	C	A	rs146125013		TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr7:150174507C>A	ENST00000307271.3	+	5	2211	c.1637C>A	c.(1636-1638)gCg>gAg	p.A546E		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	546	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ACAGCTGTGGCGAAACTGGAG	0.502																																							0											0																																										SO:0001583	missense	0			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1637C>A	7.37:g.150174507C>A	ENSP00000305107:p.Ala546Glu			Missense_Mutation	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.A546E	ENST00000307271.3	37	c.1637	CCDS34777.1	7	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.912465	0.00508	.	.	ENSG00000171115	ENST00000307271	T	0.30714	1.52	4.44	-8.88	0.00789	AIG1 (1);	2.106440	0.02320	N	0.072931	T	0.09949	0.0244	N	0.04880	-0.145	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.22243	-1.0222	10	0.02654	T	1	.	1.7304	0.02931	0.1538:0.3584:0.1959:0.2918	.	546	Q8ND71	GIMA8_HUMAN	E	546	ENSP00000305107:A546E	ENSP00000305107:A546E	A	+	2	0	GIMAP8	149805440	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.851000	0.01669	-6.066000	0.00007	-1.292000	0.01352	GCG	0	pfam_AIG1,superfamily_P-loop_NTPase		0.502	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP8	protein_coding	OTTHUMT00000350701.1	48	245	0	0.00	0	0	C	NM_175571	0	0		150174507	1	no_errors	ENST00000307271	ensembl	human	known	74_37	missense	36	271	17.78	23.16	8	82	SNP	0	A
MTMR7	9108	genome.wustl.edu	37	8	17228600	17228600	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr8:17228600G>A	ENST00000180173.5	-	3	290	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	MTMR7_ENST00000521857.1_Nonsense_Mutation_p.Q86*	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	86					inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TCTCTTTCCTGAGGTATGATG	0.478																																							0											0													162.0	147.0	152.0					8																	17228600		2203	4300	6503	SO:0001587	stop_gained	0			AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.256C>T	8.37:g.17228600G>A	ENSP00000180173:p.Gln86*		A1L4K9|B4DG87|Q68DX4	Nonsense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.Q86*	ENST00000180173.5	37	c.256	CCDS34851.1	8	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391097	0.82902	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	.	.	.	5.23	5.23	0.72850	.	0.176225	0.52532	D	0.000068	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	19.1829	0.93630	0.0:0.0:1.0:0.0	.	.	.	.	X	86	.	ENSP00000180173:Q86X	Q	-	1	0	MTMR7	17272971	1.000000	0.71417	0.965000	0.40720	0.421000	0.31385	5.128000	0.64733	2.602000	0.87976	0.655000	0.94253	CAG	0	NULL		0.478	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR7	protein_coding	OTTHUMT00000375311.1	50	194	0	0.00	0	0	G	NM_004686	0	0		17228600	-1	no_errors	ENST00000180173	ensembl	human	known	74_37	nonsense	44	188	12	14.09	6	31	SNP	0.999	A
DMTN	2039	genome.wustl.edu	37	8	21938376	21938376	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr8:21938376C>A	ENST00000523266.1	+	14	1480	c.1018C>A	c.(1018-1020)Cag>Aag	p.Q340K	DMTN_ENST00000443491.2_Intron|DMTN_ENST00000523782.2_Intron|DMTN_ENST00000517600.1_Missense_Mutation_p.Q300K|DMTN_ENST00000265800.5_Missense_Mutation_p.Q340K|DMTN_ENST00000415253.1_Intron|DMTN_ENST00000519907.1_Intron|DMTN_ENST00000358242.3_Missense_Mutation_p.Q340K|DMTN_ENST00000381470.3_Intron|DMTN_ENST00000432128.1_Missense_Mutation_p.Q340K	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	340	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										TGTGCTGGAGCAGAAGGTGAG	0.667																																							0											0													12.0	14.0	13.0					8																	21938376		2183	4250	6433	SO:0001583	missense	0			U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.1018C>A	8.37:g.21938376C>A	ENSP00000427866:p.Gln340Lys		A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece	p.Q340K	ENST00000523266.1	37	c.1018	CCDS6020.1	8	.	.	.	.	.	.	.	.	.	.	C	5.156	0.214429	0.09810	.	.	ENSG00000158856	ENST00000432128;ENST00000517600;ENST00000541895;ENST00000265800;ENST00000381455;ENST00000358242;ENST00000523266	T;T;T;T;T	0.42513	1.58;0.97;1.58;1.58;1.58	3.36	3.36	0.38483	Villin headpiece (3);	2.821210	0.02261	U	0.067565	T	0.32615	0.0835	L	0.28556	0.865	0.80722	D	1	B;B;B	0.30281	0.275;0.131;0.131	B;B;B	0.24541	0.051;0.054;0.022	T	0.15065	-1.0450	10	0.15499	T	0.54	.	10.3609	0.43994	0.0:1.0:0.0:0.0	.	279;300;340	E9PD40;B4DI75;Q08495	.;.;DEMA_HUMAN	K	340;300;300;340;279;340;340	ENSP00000416111:Q340K;ENSP00000430618:Q300K;ENSP00000265800:Q340K;ENSP00000350977:Q340K;ENSP00000427866:Q340K	ENSP00000265800:Q340K	Q	+	1	0	EPB49	21994322	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.389000	0.59639	1.890000	0.54733	0.305000	0.20034	CAG	0	superfamily_Villin_headpiece,pfscan_Villin_headpiece		0.667	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DMTN	protein_coding	OTTHUMT00000375178.1	18	19	0	0.00	0	0	C	NM_001978	0	0		21938376	1	no_errors	ENST00000265800	ensembl	human	known	74_37	missense	27	38	15.62	13.64	5	6	SNP	1	A
C8orf44	56260	genome.wustl.edu	37	8	67589949	67589949	+	Silent	SNP	G	G	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr8:67589949G>A	ENST00000519561.1	+	2	157	c.6G>A	c.(4-6)agG>agA	p.R2R	C8orf44_ENST00000521889.1_Silent_p.R2R|C8orf44-SGK3_ENST00000519289.1_Intron|C8orf44_ENST00000390159.3_Silent_p.R2R|C8orf44-SGK3_ENST00000520044.1_Intron	NM_019607.2	NP_062553.1	Q96CB5	CH044_HUMAN	chromosome 8 open reading frame 44	2						nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(2)	4	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTGAAATGAGGAAGAATGAGA	0.423																																							0											0													105.0	102.0	103.0					8																	67589949		2203	4300	6503	SO:0001819	synonymous_variant	0			AK002129	CCDS6193.1	8q13.1	2012-05-16		2005-08-09	ENSG00000213865	ENSG00000213865			25646	protein-coding gene	gene with protein product						12477932	Standard	NM_019607		Approved	FLJ11267	uc003xwo.2	Q96CB5	OTTHUMG00000164562	ENST00000519561.1:c.6G>A	8.37:g.67589949G>A			Q9NUM6	Silent	SNP	NULL	p.R2	ENST00000519561.1	37	c.6	CCDS6193.1	8																																																																																			0	NULL		0.423	C8orf44-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C8orf44	protein_coding	OTTHUMT00000379242.2	110	307	0	0.00	0	0	G	NM_019607	0	0		67589949	1	no_errors	ENST00000390159	ensembl	human	known	74_37	silent	128	387	13.51	14.19	20	64	SNP	0	A
PLEC	5339	genome.wustl.edu	37	8	144995484	144995484	+	Silent	SNP	G	G	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr8:144995484G>A	ENST00000322810.4	-	32	9085	c.8916C>T	c.(8914-8916)ttC>ttT	p.F2972F	PLEC_ENST00000356346.3_Silent_p.F2821F|PLEC_ENST00000398774.2_Silent_p.F2803F|PLEC_ENST00000527096.1_Silent_p.F2858F|PLEC_ENST00000357649.2_Silent_p.F2839F|PLEC_ENST00000354958.2_Silent_p.F2813F|PLEC_ENST00000345136.3_Silent_p.F2835F|PLEC_ENST00000354589.3_Silent_p.F2835F|PLEC_ENST00000436759.2_Silent_p.F2862F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2972	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCCTCGTCGAAGTAGCCGC	0.672																																							0											0													63.0	70.0	68.0					8																	144995484		2009	4159	6168	SO:0001819	synonymous_variant	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8916C>T	8.37:g.144995484G>A			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.F2972	ENST00000322810.4	37	c.8916	CCDS43772.1	8																																																																																			0	pfam_Plectin_repeat,smart_Plectin_repeat		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	protein_coding	OTTHUMT00000383281.1	38	64	0	1.54	0	1	G	NM_000445	0	0		144995484	-1	no_errors	ENST00000322810	ensembl	human	known	74_37	silent	32	125	15.79	13.19	6	19	SNP	0.978	A
NEUROG3	50674	genome.wustl.edu	37	10	71332555	71332555	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr10:71332555C>T	ENST00000242462.4	-	2	274	c.245G>A	c.(244-246)cGg>cAg	p.R82Q		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	82					central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in 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)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						TCGCCGACTCCGTCGCTGCTT	0.687																																							0											0													72.0	43.0	53.0					10																	71332555		2203	4300	6503	SO:0001583	missense	0			AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.245G>A	10.37:g.71332555C>T	ENSP00000242462:p.Arg82Gln		Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R82Q	ENST00000242462.4	37	c.245	CCDS31212.1	10	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993951	0.93167	.	.	ENSG00000122859	ENST00000242462	D	0.88277	-2.36	4.7	4.7	0.59300	Helix-loop-helix DNA-binding (2);	0.000000	0.37715	N	0.001976	D	0.89798	0.6819	L	0.32530	0.975	0.43688	D	0.996131	D	0.76494	0.999	D	0.64321	0.924	D	0.87168	0.2219	10	0.21014	T	0.42	-18.1296	16.3734	0.83374	0.0:1.0:0.0:0.0	.	82	Q9Y4Z2	NGN3_HUMAN	Q	82	ENSP00000242462:R82Q	ENSP00000242462:R82Q	R	-	2	0	NEUROG3	71002561	0.678000	0.27586	0.991000	0.47740	0.869000	0.49853	2.585000	0.46111	2.416000	0.81992	0.591000	0.81541	CGG	0	superfamily_bHLH_dom,pfscan_bHLH_dom		0.687	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG3	protein_coding	OTTHUMT00000048464.1	16	93	0	0.00	0	0	C	NM_020999	0	0		71332555	-1	no_errors	ENST00000242462	ensembl	human	known	74_37	missense	12	87	29.41	22.61	5	26	SNP	0.996	T
ACTA2	59	genome.wustl.edu	37	10	90692534	90692534	+	IGR	SNP	C	C	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr10:90692534C>T	ENST00000458208.1	-	0	1756				ACTA2-AS1_ENST00000437930.4_RNA|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta						glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		ATTTTTGCCTCTGGGCATGGC	0.493											OREG0020355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0																																										SO:0001628	intergenic_variant	0			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700		10.37:g.90692534C>T		1276	B2R8A4|P03996|P04108|Q6FI19	RNA	SNP	0	NULL	ENST00000458208.1	37	NULL	CCDS7392.1	10																																																																																			0	0		0.493	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA2-AS1	protein_coding	OTTHUMT00000049264.1	49	218	0	0.00	0	0	C	NM_001613	0	0		90692534	1	no_errors	ENST00000437930	ensembl	human	known	74_37	rna	40	218	18	17.74	9	47	SNP	0	T
GPR123	84435	genome.wustl.edu	37	10	134942643	134942643	+	Silent	SNP	C	C	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr10:134942643C>T	ENST00000392607.3	+	7	1747	c.1311C>T	c.(1309-1311)gcC>gcT	p.A437A	GPR123_ENST00000392606.2_Silent_p.A340A|GPR123_ENST00000607359.1_Silent_p.A1156A	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	437					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCGAGTACGCCTACCACATCC	0.692																																							0											0													11.0	12.0	12.0					10																	134942643		2113	4159	6272	SO:0001819	synonymous_variant	0			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1311C>T	10.37:g.134942643C>T			A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	p.A1156	ENST00000392607.3	37	c.3468	CCDS41580.1	10																																																																																			0	NULL		0.692	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	GPR123	protein_coding	OTTHUMT00000051113.2	17	59	0	0.00	0	0	C		0	0		134942643	1	no_errors	ENST00000607359	ensembl	human	putative	74_37	silent	10	66	41.18	16.25	7	13	SNP	1	T
CYP2E1	1571	genome.wustl.edu	37	10	135341999	135341999	+	Silent	SNP	C	C	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr10:135341999C>T	ENST00000463117.2	+	4	464	c.192C>T	c.(190-192)ttC>ttT	p.F64F	CYP2E1_ENST00000252945.3_Silent_p.F64F|AL161645.2_ENST00000599428.1_Intron|SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000480558.1_3'UTR			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	64					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCCAGCGCTTCGGGCCGGTGT	0.667									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																														0											0													46.0	42.0	43.0					10																	135341999		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.192C>T	10.37:g.135341999C>T			Q5VZD5|Q6NWT9|Q9UK47	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.F64	ENST00000463117.2	37	c.192	CCDS7686.1	10																																																																																			0	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV		0.667	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	protein_coding	OTTHUMT00000051161.2	66	59	0	0.00	0	0	C	NM_000773	0	0		135341999	1	no_errors	ENST00000252945	ensembl	human	known	74_37	silent	27	50	30.77	27.54	12	19	SNP	0.002	T
SOX6	55553	genome.wustl.edu	37	11	16068114	16068114	+	Silent	SNP	G	G	A	rs369713124		TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr11:16068114G>A	ENST00000352083.6	-	12	1646	c.1569C>T	c.(1567-1569)gaC>gaT	p.D523D	SOX6_ENST00000528252.1_Silent_p.D496D|SOX6_ENST00000528429.1_Silent_p.D523D|SOX6_ENST00000527619.1_Silent_p.D499D|SOX6_ENST00000396356.3_Silent_p.D523D|SOX6_ENST00000316399.6_Silent_p.D523D			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	523					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						ACAGTTTCCCGTCAACACCAT	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		19099	0.0		0.0	False		,,,				2504	0.001						0.9998,0.0001997											0								G	,,,	0,4400		0,0,2200	134.0	119.0	124.0		1488,1608,1497,1569	-1.9	1.0	11		124	2,8586	2.2+/-6.3	0,2,4292	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SOX6	NM_001145811.1,NM_001145819.1,NM_017508.2,NM_033326.3	,,,	0,2,6492	AA,AG,GG		0.0233,0.0,0.0154	,,,	496/802,536/842,499/805,523/809	16068114	2,12986	2200	4294	6494	SO:0001819	synonymous_variant	0			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1569C>T	11.37:g.16068114G>A			Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.D523	ENST00000352083.6	37	c.1569		11																																																																																			0	NULL		0.498	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	SOX6	protein_coding	OTTHUMT00000386811.1	38	243	0	0.00	0	0	G	NM_033326	rs369713124	G->A		16068114	-1	no_errors	ENST00000352083	ensembl	human	known	74_37	silent	19	207	26.92	22.01	7	59	SNP	0.994	A
UEVLD	55293	genome.wustl.edu	37	11	18554026	18554026	+	Nonstop_Mutation	SNP	A	A	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr11:18554026A>T	ENST00000541984.1	-	7	660	c.598T>A	c.(598-600)Tga>Aga	p.*200R	UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000396197.3_Nonsense_Mutation_p.Y419*|UEVLD_ENST00000535484.1_Missense_Mutation_p.M340K|UEVLD_ENST00000543987.1_Missense_Mutation_p.M378K|UEVLD_ENST00000320750.6_Missense_Mutation_p.M356K|UEVLD_ENST00000379387.4_Nonsense_Mutation_p.Y397*	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TATTTATATCATAATATCCCT	0.313																																							0											0													66.0	61.0	63.0					11																	18554026		2199	4293	6492	SO:0001578	stop_lost	0			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.598T>A	11.37:g.18554026A>T				Nonsense_Mutation	SNP	pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH	p.Y419*	ENST00000541984.1	37	c.1257	CCDS58125.1	11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	26.1|26.1|26.1	4.702549|4.702549|4.702549	0.88924|0.88924|0.88924	.|.|.	.|.|.	ENSG00000151116|ENSG00000151116|ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000320750|ENST00000541984|ENST00000396197;ENST00000379387;ENST00000540110	D;D;D|.|.	0.81996|.|.	-1.56;-1.56;-1.56|.|.	5.44|5.44|5.44	4.32|4.32|4.32	0.51571|0.51571|0.51571	.|.|.	.|.|0.347399	.|.|0.26669	.|.|U	.|.|0.023117	T|.|.	0.63212|.|.	0.2492|.|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B|.|.	0.16166|.|.	0.016;0.004|.|.	B;B|.|.	0.13407|.|.	0.009;0.009|.|.	T|.|.	0.64183|.|.	-0.6467|.|.	8|.|.	0.72032|.|0.87932	D|.|D	0.01|.|0	-8.261|-8.261|-8.261	6.6139|6.6139|6.6139	0.22766|0.22766|0.22766	0.7736:0.0:0.2264:0.0|0.7736:0.0:0.2264:0.0|0.7736:0.0:0.2264:0.0	.|.|.	356;378|.|.	Q8IX04-3;Q8IX04-2|.|.	.;.|.|.	K|R|X	378;340;356|200|419;397;196	ENSP00000442974:M378K;ENSP00000441092:M340K;ENSP00000323353:M356K|.|.	ENSP00000323353:M356K|.|ENSP00000368697:Y397X	M|X|Y	-|-|-	2|1|3	0|0|2	UEVLD|UEVLD|UEVLD	18510602|18510602|18510602	0.996000|0.996000|0.996000	0.38824|0.38824|0.38824	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.854000|0.854000|0.854000	0.48673|0.48673|0.48673	1.962000|1.962000|1.962000	0.40442|0.40442|0.40442	0.908000|0.908000|0.908000	0.36671|0.36671|0.36671	-0.256000|-0.256000|-0.256000	0.11100|0.11100|0.11100	ATG|TGA|TAT	0	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C		0.313	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	UEVLD	protein_coding	OTTHUMT00000395928.1	65	316	0	0.00	0	0	A	NM_018314	0	0		18554026	-1	no_errors	ENST00000396197	ensembl	human	known	74_37	nonsense	44	305	8.33	4.98	4	16	SNP	1	T
OPCML	4978	genome.wustl.edu	37	11	132307151	132307151	+	Missense_Mutation	SNP	G	G	C			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr11:132307151G>C	ENST00000331898.7	-	4	1207	c.629C>G	c.(628-630)gCg>gGg	p.A210G	OPCML_ENST00000524381.1_Missense_Mutation_p.A203G|OPCML_ENST00000541867.1_Missense_Mutation_p.A210G|OPCML_ENST00000374778.4_Missense_Mutation_p.A169G|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	210	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CACATCGGGCGCAGCGACATC	0.552																																							0											0													128.0	112.0	118.0					11																	132307151		2201	4297	6498	SO:0001583	missense	0			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.629C>G	11.37:g.132307151G>C	ENSP00000330862:p.Ala210Gly		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A210G	ENST00000331898.7	37	c.629	CCDS8492.1	11	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582864	0.46006	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.82	5.82	0.92795	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.358195	0.32401	N	0.006160	T	0.59729	0.2215	M	0.67517	2.055	0.36605	D	0.87486	P;P;P;P	0.44241	0.793;0.829;0.683;0.683	P;P;P;P	0.48030	0.564;0.527;0.564;0.564	T	0.66756	-0.5843	10	0.44086	T	0.13	-15.9995	14.2847	0.66238	0.0729:0.0:0.9271:0.0	.	210;203;209;210	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	G	210;203;169;177;210	ENSP00000330862:A210G;ENSP00000434750:A203G;ENSP00000363910:A169G;ENSP00000445496:A210G	ENSP00000330862:A210G	A	-	2	0	OPCML	131812361	1.000000	0.71417	0.923000	0.36655	0.016000	0.09150	5.059000	0.64306	2.756000	0.94617	0.563000	0.77884	GCG	0	smart_Ig_sub,pfscan_Ig-like_dom		0.552	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	protein_coding	OTTHUMT00000374689.3	25	121	0	0.00	0	0	G	NM_001012393	0	0		132307151	-1	no_errors	ENST00000541867	ensembl	human	known	74_37	missense	18	162	35.71	19.12	10	39	SNP	0.974	C
ANKS1B	56899	genome.wustl.edu	37	12	99640643	99640643	+	Splice_Site	SNP	C	C	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr12:99640643C>T	ENST00000547776.2	-	13	1756		c.e13-1		ANKS1B_ENST00000329257.7_Splice_Site|ANKS1B_ENST00000550833.1_Splice_Site|ANKS1B_ENST00000547010.1_Splice_Site	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GAGAGGTCATCTGCAAAAGGA	0.473																																							0											0													106.0	102.0	103.0					12																	99640643		1891	4094	5985	SO:0001630	splice_region_variant	0			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1757-1G>A	12.37:g.99640643C>T			A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Splice_Site	SNP	0	e13-1	ENST00000547776.2	37	c.1757-1	CCDS55872.1	12	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911494	0.33721	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2736	0.49153	0.0:0.9165:0.0:0.0835	.	.	.	.	.	-1	.	.	.	-	.	.	ANKS1B	98164774	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	4.543000	0.60684	2.882000	0.98803	0.655000	0.94253	.	0	0		0.473	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	protein_coding	OTTHUMT00000408421.3	48	291	0	0.00	0	0	C	NM_020140	0	0	Intron	99640643	-1	no_errors	ENST00000329257	ensembl	human	known	74_37	splice_site	44	274	10.2	26.15	5	97	SNP	1	T
MYBPC1	4604	genome.wustl.edu	37	12	102046903	102046903	+	Silent	SNP	G	G	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr12:102046903G>A	ENST00000550270.1	+	16	1569	c.1569G>A	c.(1567-1569)aaG>aaA	p.K523K	MYBPC1_ENST00000361466.2_Silent_p.K548K|MYBPC1_ENST00000541119.1_Silent_p.K511K|MYBPC1_ENST00000441232.1_Silent_p.K523K|MYBPC1_ENST00000547509.1_Silent_p.K509K|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000452455.2_Silent_p.K523K|MYBPC1_ENST00000551300.1_Silent_p.K424K|MYBPC1_ENST00000549145.1_Silent_p.K536K|MYBPC1_ENST00000545503.2_Silent_p.K523K|MYBPC1_ENST00000360610.2_Silent_p.K523K|MYBPC1_ENST00000361685.2_Silent_p.K548K|MYBPC1_ENST00000536007.1_Silent_p.K504K|MYBPC1_ENST00000547405.1_Silent_p.K497K|MYBPC1_ENST00000553190.1_Silent_p.K523K|MYBPC1_ENST00000392934.3_Silent_p.K510K|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000550501.1_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	523	Ig-like C2-type 5.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATCCTCCTAAGATCATCCTGG	0.418																																							0											0													110.0	100.0	103.0					12																	102046903		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1569G>A	12.37:g.102046903G>A			B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K548	ENST00000550270.1	37	c.1644	CCDS9085.1	12																																																																																			0	pfscan_Ig-like_dom		0.418	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	protein_coding	OTTHUMT00000408806.1	27	208	0	0.00	0	0	G		0	0		102046903	1	no_errors	ENST00000361466	ensembl	human	known	74_37	silent	24	170	25	20.47	8	44	SNP	0.995	A
UBE3B	89910	genome.wustl.edu	37	12	109927908	109927908	+	Intron	SNP	G	G	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr12:109927908G>A	ENST00000342494.3	+	8	1225				UBE3B_ENST00000536398.1_Intron|UBE3B_ENST00000340074.5_Intron|UBE3B_ENST00000280774.5_Intron|UBE3B_ENST00000434735.2_Intron|UBE3B_ENST00000537063.1_Silent_p.Q243Q|UBE3B_ENST00000540230.1_Intron	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GTCCTCCTCAGAAACACTTTT	0.512																																							0											0																																										SO:0001627	intron_variant	0			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.630+99G>A	12.37:g.109927908G>A			A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.Q243	ENST00000342494.3	37	c.729	CCDS9129.1	12																																																																																			0	NULL		0.512	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	protein_coding	OTTHUMT00000403119.1	53	248	0	0.00	0	0	G	NM_183415	0	0		109927908	1	no_errors	ENST00000537063	ensembl	human	putative	74_37	silent	30	206	30.23	20.99	13	55	SNP	0.006	A
RNF10	9921	genome.wustl.edu	37	12	121013751	121013751	+	Missense_Mutation	SNP	C	C	G			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr12:121013751C>G	ENST00000325954.4	+	16	2818	c.2357C>G	c.(2356-2358)tCt>tGt	p.S786C	RNF10_ENST00000542701.1_3'UTR|RNF10_ENST00000413266.2_Missense_Mutation_p.S791C	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	786					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATCCCCTCTCTGGTAAGGGC	0.502																																							0											0													108.0	110.0	109.0					12																	121013751		2203	4300	6503	SO:0001583	missense	0			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.2357C>G	12.37:g.121013751C>G	ENSP00000322242:p.Ser786Cys		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S791C	ENST00000325954.4	37	c.2372	CCDS9201.1	12	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779055	0.70107	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000538254	D;D	0.90004	-2.6;-2.6	5.62	5.62	0.85841	.	0.439403	0.25987	N	0.027035	D	0.89993	0.6876	L	0.48642	1.525	0.46167	D	0.9989	D;D	0.67145	0.996;0.993	P;P	0.59288	0.855;0.72	D	0.89087	0.3480	10	0.48119	T	0.1	.	10.1503	0.42788	0.0:0.8534:0.0:0.1466	.	791;786	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	C	786;786;791;121	ENSP00000322242:S786C;ENSP00000415682:S791C	ENSP00000322242:S786C	S	+	2	0	RNF10	119498134	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.594000	0.61041	2.648000	0.89879	0.650000	0.86243	TCT	0	NULL		0.502	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF10	protein_coding	OTTHUMT00000401898.4	34	205	0	0.00	0	0	C		0	0		121013751	1	no_errors	ENST00000413266	ensembl	human	known	74_37	missense	11	188	31.25	21.34	5	51	SNP	1	G
COL4A2	1284	genome.wustl.edu	37	13	111164485	111164485	+	Missense_Mutation	SNP	G	G	A	rs202178258		TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr13:111164485G>A	ENST00000360467.5	+	48	5392	c.5086G>A	c.(5086-5088)Ggc>Agc	p.G1696S		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1696	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCTCAAGGCCGGCCTCATCCG	0.602													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14207	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													31.0	37.0	35.0					13																	111164485		2070	4209	6279	SO:0001583	missense	0			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.5086G>A	13.37:g.111164485G>A	ENSP00000353654:p.Gly1696Ser		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1696S	ENST00000360467.5	37	c.5086	CCDS41907.1	13	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	36	5.975260	0.97162	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.94687	-3.49	4.91	4.91	0.64330	C-type lectin fold (1);	0.000000	0.52532	D	0.000071	D	0.93769	0.8008	L	0.34521	1.04	0.80722	D	1	P	0.44241	0.829	P	0.50791	0.65	D	0.94074	0.7338	10	0.49607	T	0.09	.	18.1115	0.89537	0.0:0.0:1.0:0.0	.	1696	P08572	CO4A2_HUMAN	S	1696	ENSP00000353654:G1696S	ENSP00000257309:G1696S	G	+	1	0	COL4A2	109962486	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.406000	0.97321	2.258000	0.74832	0.561000	0.74099	GGC	0	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC		0.602	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	protein_coding	OTTHUMT00000045761.2	66	56	0	0.00	0	0	G	NM_001846	rs202178258	G->A		111164485	1	no_errors	ENST00000360467	ensembl	human	known	74_37	missense	45	49	19.3	23.44	11	15	SNP	1	A
LGMN	5641	genome.wustl.edu	37	14	93178266	93178266	+	Silent	SNP	C	C	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr14:93178266C>T	ENST00000393218.2	-	10	982	c.645G>A	c.(643-645)tcG>tcA	p.S215S	LGMN_ENST00000555699.1_Silent_p.S215S|LGMN_ENST00000557434.1_Silent_p.S215S|LGMN_ENST00000334869.4_Silent_p.S215S	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	215					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)	p.S215S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		AGGCGTAGGACGACTCTCTGG	0.488																																							0											1	Substitution - coding silent(1)	large_intestine(1)											80.0	76.0	77.0					14																	93178266		2203	4300	6503	SO:0001819	synonymous_variant	0			D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"""protease, cysteine, 1 (legumain)"""	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.645G>A	14.37:g.93178266C>T			O00123|Q86TV2|Q86TV3|Q9BTY1	Silent	SNP	pfam_Peptidase_C13,prints_Peptidase_C13	p.S215	ENST00000393218.2	37	c.645	CCDS9904.1	14																																																																																			0	pfam_Peptidase_C13		0.488	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LGMN	protein_coding	OTTHUMT00000412288.1	48	140	0	1.41	0	2	C	NM_005606	0	0		93178266	-1	no_errors	ENST00000334869	ensembl	human	known	74_37	silent	34	139	22.73	16.77	10	28	SNP	0.007	T
NUSAP1	51203	genome.wustl.edu	37	15	41625118	41625118	+	5'UTR	SNP	G	G	C			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr15:41625118G>C	ENST00000559596.1	+	0	50				NUSAP1_ENST00000414849.2_5'UTR|OIP5_ENST00000220514.3_5'Flank|NUSAP1_ENST00000560747.1_5'UTR|NUSAP1_ENST00000450592.2_5'UTR|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000560177.1_5'UTR|NUSAP1_ENST00000450318.1_5'UTR|NUSAP1_ENST00000260359.6_5'UTR			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1						establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		GAAGTTTGGTGATCCATCTTC	0.493																																							0											0													23.0	23.0	23.0					15																	41625118		1899	4132	6031	SO:0001623	5_prime_UTR_variant	0			AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.-38G>C	15.37:g.41625118G>C			B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	RNA	SNP	0	NULL	ENST00000559596.1	37	NULL	CCDS45234.1	15																																																																																			0	0		0.493	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUSAP1	protein_coding	OTTHUMT00000419427.1	55	240	0	0.00	0	0	G	NM_016359	0	0		41625118	1	no_errors	ENST00000558123	ensembl	human	known	74_37	rna	33	219	26.67	22.89	12	65	SNP	0	C
LDHAL6B	92483	genome.wustl.edu	37	15	59499262	59499262	+	Silent	SNP	C	C	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr15:59499262C>A	ENST00000307144.4	+	1	221	c.123C>A	c.(121-123)acC>acA	p.T41T	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	41					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						TCAACGGCACCTGGCTCTTCA	0.587																																							0											0													74.0	66.0	69.0					15																	59499262		2191	4290	6481	SO:0001819	synonymous_variant	0			AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.123C>A	15.37:g.59499262C>A			Q6DUY4|Q96LI2	Silent	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.T41	ENST00000307144.4	37	c.123	CCDS10171.1	15																																																																																			0	NULL		0.587	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHAL6B	protein_coding	OTTHUMT00000256015.1	44	52	0	1.89	0	1	C	NM_033195	0	0		59499262	1	no_errors	ENST00000307144	ensembl	human	known	74_37	silent	13	38	18.75	17.39	3	8	SNP	0.089	A
CLCN7	1186	genome.wustl.edu	37	16	1497080	1497080	+	Missense_Mutation	SNP	G	G	A	rs140032494		TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr16:1497080G>A	ENST00000382745.4	-	24	2863	c.2258C>T	c.(2257-2259)tCg>tTg	p.S753L	CLCN7_ENST00000262318.8_Silent_p.V729V|CLCN7_ENST00000448525.1_Missense_Mutation_p.S729L|CCDC154_ENST00000389176.3_5'Flank|CCDC154_ENST00000409671.1_5'Flank|LA16c-390E6.5_ENST00000566287.1_RNA	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	753	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CCGTGGGAGCGACGCCTCCTG	0.716																																							0											0								G	LEU/SER,LEU/SER	1,4349		0,1,2174	18.0	19.0	19.0		2186,2258	5.1	0.1	16	dbSNP_134	19	0,8564		0,0,4282	no	missense,missense	CLCN7	NM_001114331.1,NM_001287.4	145,145	0,1,6456	AA,AG,GG		0.0,0.023,0.0077	probably-damaging,probably-damaging	729/782,753/806	1497080	1,12913	2175	4282	6457	SO:0001583	missense	0			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.2258C>T	16.37:g.1497080G>A	ENSP00000372193:p.Ser753Leu		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7	p.S753L	ENST00000382745.4	37	c.2258	CCDS32361.1	16	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790611	0.50102	2.3E-4	0.0	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.95001	-3.58;-3.58	5.12	5.12	0.69794	Cystathionine beta-synthase, core (3);	0.050958	0.85682	D	0.000000	D	0.97111	0.9056	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.969;0.998;0.972	D	0.97713	1.0192	10	0.72032	D	0.01	-25.7222	17.12	0.86699	0.0:0.0:1.0:0.0	.	729;753;202	E9PDB9;P51798;B3KUD9	.;CLCN7_HUMAN;.	L	729;706;753;695	ENSP00000410907:S729L;ENSP00000372193:S753L	ENSP00000262318:S706L	S	-	2	0	CLCN7	1437081	1.000000	0.71417	0.099000	0.21106	0.024000	0.10985	9.692000	0.98682	2.370000	0.80446	0.561000	0.74099	TCG	0	pfam_CBS_dom,smart_CBS_dom		0.716	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN7	protein_coding	OTTHUMT00000103598.2	46	60	0	0.00	0	0	G	NM_001287	rs140032494	G->A		1497080	-1	no_errors	ENST00000382745	ensembl	human	known	74_37	missense	30	73	16.67	23.16	6	22	SNP	0.993	A
SRRM2	23524	genome.wustl.edu	37	16	2818595	2818595	+	Intron	SNP	T	T	G	rs535388704		TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr16:2818595T>G	ENST00000301740.8	+	11	8282				AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_Intron	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2						mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ggaaggatcttcagaggtcat	0.587																																							0											0																																										SO:0001627	intron_variant	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7733+333T>G	16.37:g.2818595T>G			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	RNA	SNP	0	NULL	ENST00000301740.8	37	NULL	CCDS32373.1	16																																																																																			0	0		0.587	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	protein_coding	OTTHUMT00000436411.1	45	203	0	0.00	0	0	T		0	0		2818595	1	no_errors	ENST00000572721	ensembl	human	putative	74_37	rna	39	246	27.78	16.04	15	47	SNP	1	G
KIAA0430	9665	genome.wustl.edu	37	16	15706472	15706472	+	Nonsense_Mutation	SNP	G	G	C			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr16:15706472G>C	ENST00000396368.3	-	17	3622	c.3416C>G	c.(3415-3417)tCa>tGa	p.S1139*	KIAA0430_ENST00000540441.2_Nonsense_Mutation_p.S974*|KIAA0430_ENST00000548025.1_Nonsense_Mutation_p.S1136*|KIAA0430_ENST00000602337.1_Nonsense_Mutation_p.S1136*|KIAA0430_ENST00000344181.3_Nonsense_Mutation_p.S741*|CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000551742.1_Nonsense_Mutation_p.S1139*	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1139	HTH OST-type 3. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGTAGTCTGACACTCGGCA	0.453																																							0											0													177.0	177.0	177.0					16																	15706472		2038	4214	6252	SO:0001587	stop_gained	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3416C>G	16.37:g.15706472G>C	ENSP00000379654:p.Ser1139*		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Nonsense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.S1139*	ENST00000396368.3	37	c.3416	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	42	9.676047	0.99236	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.5965	0.95541	0.0:0.0:1.0:0.0	.	.	.	.	X	1139;974;1079;741;1136;1139;919	.	ENSP00000315718:S1079X	S	-	2	0	KIAA0430	15613973	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.951000	0.93025	2.627000	0.88993	0.643000	0.83706	TCA	0	NULL		0.453	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	protein_coding	OTTHUMT00000252131.2	61	195	0	0.00	0	0	G	NM_014647	0	0		15706472	-1	no_errors	ENST00000396368	ensembl	human	known	74_37	nonsense	43	206	15.69	8.00	8	18	SNP	1	C
CCDC101	112869	genome.wustl.edu	37	16	28602116	28602116	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr16:28602116C>T	ENST00000317058.3	+	9	812	c.625C>T	c.(625-627)Cgt>Tgt	p.R209C		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	209	SGF29 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00851}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						GAGCCGGCGCCGTGTCATCCC	0.647																																							0											0													47.0	46.0	46.0					16																	28602116		2197	4300	6497	SO:0001583	missense	0			AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"""SAGA-associated factor 29 homolog (yeast)"""	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.625C>T	16.37:g.28602116C>T	ENSP00000316114:p.Arg209Cys		Q96MF5	Missense_Mutation	SNP	pfam_SGF29_tudor-like_dom	p.R209C	ENST00000317058.3	37	c.625	CCDS10635.1	16	.	.	.	.	.	.	.	.	.	.	.	15.40	2.821938	0.50633	.	.	ENSG00000176476	ENST00000317058	.	.	.	5.41	2.33	0.28932	SGF29 tudor-like domain (2);	0.000000	0.64402	D	0.000001	T	0.66636	0.2809	L	0.59912	1.85	0.40454	D	0.980171	D	0.89917	1.0	D	0.75484	0.986	T	0.62548	-0.6831	9	0.39692	T	0.17	.	7.7526	0.28907	0.2879:0.6342:0.0:0.0779	.	209	Q96ES7	SGF29_HUMAN	C	209	.	ENSP00000316114:R209C	R	+	1	0	CCDC101	28509617	0.995000	0.38212	0.275000	0.24674	0.603000	0.37013	1.763000	0.38461	0.246000	0.21394	-0.181000	0.13052	CGT	0	pfam_SGF29_tudor-like_dom		0.647	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC101	protein_coding	OTTHUMT00000254691.1	32	122	0	0.00	0	0	C	NM_138414	0	0		28602116	1	no_errors	ENST00000317058	ensembl	human	known	74_37	missense	19	143	13.64	18.64	3	33	SNP	0.186	T
CYLD	1540	genome.wustl.edu	37	16	50811826	50811826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr16:50811826C>A	ENST00000427738.3	+	7	1317	c.1112C>A	c.(1111-1113)tCa>tAa	p.S371*	CYLD_ENST00000311559.9_Nonsense_Mutation_p.S371*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000540145.1_Nonsense_Mutation_p.S371*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.S368*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.S368*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.S368*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	371	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.S371*(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CAATCCAAATCAAAAAATACA	0.313			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														0	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	1	Substitution - Nonsense(1)	skin(1)	GRCh37	CM001113	CYLD	M							86.0	80.0	82.0					16																	50811826		1815	4063	5878	SO:0001587	stop_gained	0	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1112C>A	16.37:g.50811826C>A	ENSP00000392025:p.Ser371*		O94934|Q7L3N6|Q96EH0|Q9NZX9	Nonsense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67	p.S371*	ENST00000427738.3	37	c.1112	CCDS45482.1	16	.	.	.	.	.	.	.	.	.	.	C	38	6.825978	0.97865	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.57	4.62	0.57501	.	0.283087	0.35870	N	0.002940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4529	14.7297	0.69372	0.0:0.9298:0.0:0.0702	.	.	.	.	X	371;371;368;368	.	ENSP00000308928:S371X	S	+	2	0	CYLD	49369327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.580000	0.67464	1.473000	0.48159	0.650000	0.86243	TCA	0	NULL		0.313	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	protein_coding	OTTHUMT00000422998.2	82	357	0	0.28	0	1	C		0	0		50811826	1	no_errors	ENST00000311559	ensembl	human	known	74_37	nonsense	29	146	35.56	26.50	16	53	SNP	1	A
SLC47A1	55244	genome.wustl.edu	37	17	19451348	19451348	+	Silent	SNP	T	T	C			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr17:19451348T>C	ENST00000270570.4	+	4	443	c.357T>C	c.(355-357)agT>agC	p.S119S	SLC47A1_ENST00000542886.1_Silent_p.S119S|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000436810.2_Silent_p.S96S|SLC47A1_ENST00000457293.1_Silent_p.S119S|SLC47A1_ENST00000395585.1_Silent_p.S119S|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000575023.1_Silent_p.S119S	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	119					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TGCAGCGGAGTGCGCTCGTCC	0.612																																							0											0													144.0	120.0	128.0					17																	19451348		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.357T>C	17.37:g.19451348T>C			Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Silent	SNP	pfam_MATE,tigrfam_MATE	p.S119	ENST00000270570.4	37	c.357	CCDS11209.1	17																																																																																			0	pfam_MATE,tigrfam_MATE		0.612	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC47A1	protein_coding	OTTHUMT00000132250.1	49	72	0	0.00	0	0	T	NM_018242	0	0		19451348	1	no_errors	ENST00000395585	ensembl	human	known	74_37	silent	34	60	19.05	17.33	8	13	SNP	0	C
KRT19	3880	genome.wustl.edu	37	17	39680632	39680632	+	Splice_Site	SNP	C	C	T	rs547328988		TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr17:39680632C>T	ENST00000361566.3	-	4	881	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	KRT15_ENST00000254043.3_5'Flank|KRT15_ENST00000393976.2_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	274	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TCTACCTACCCGGCTGGTGAA	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		21196	0.001		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													70.0	71.0	71.0					17																	39680632		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.822+1G>A	17.37:g.39680632C>T			B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R274Q	ENST00000361566.3	37	c.821	CCDS11399.1	17	.	.	.	.	.	.	.	.	.	.	C	10.81	1.455936	0.26161	.	.	ENSG00000171345	ENST00000361566	T	0.79352	-1.26	5.41	-3.01	0.05463	Prefoldin (1);Filament (1);	1.373470	0.05192	N	0.503332	T	0.43678	0.1258	N	0.00742	-1.23	0.26338	N	0.97741	B;B	0.16166	0.0;0.016	B;B	0.14578	0.001;0.011	T	0.51379	-0.8713	10	0.02654	T	1	.	11.6157	0.51088	0.0:0.2459:0.0:0.7541	.	437;274	B4DE59;P08727	.;K1C19_HUMAN	Q	274	ENSP00000355124:R274Q	ENSP00000355124:R274Q	R	-	2	0	KRT19	36934158	0.173000	0.23056	0.025000	0.17156	0.295000	0.27426	0.476000	0.22180	-0.872000	0.04037	-0.253000	0.11424	CGG	0	pfam_IF,superfamily_Prefoldin		0.572	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT19	protein_coding	OTTHUMT00000257285.1	45	196	0	0.51	0	1	C	NM_002276	rs547328988	C->T	Missense_Mutation	39680632	-1	no_errors	ENST00000361566	ensembl	human	known	74_37	missense	37	227	9.76	23.31	4	69	SNP	0.177	T
LOC101927755	101927755	genome.wustl.edu	37	17	58066676	58066676	+	lincRNA	SNP	C	C	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr17:58066676C>A	ENST00000586209.1	+	0	158																											TAAAATAAGTCTCTCATTAGG	0.323																																							0											0																																												0																															17.37:g.58066676C>A				RNA	SNP	0	NULL	ENST00000586209.1	37	NULL		17																																																																																			0	0		0.323	RP11-178C3.2-001	KNOWN	basic	lincRNA	TBC1D3P1-DHX40P1	lincRNA	OTTHUMT00000449162.1	75	266	0	0.74	0	2	C		0	0		58066676	-1	no_errors	ENST00000587125	ensembl	human	known	74_37	rna	46	161	14.81	23.72	8	51	SNP	1	A
DNAH17	8632	genome.wustl.edu	37	17	76523021	76523021	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr17:76523021C>T	ENST00000585328.1	-	23	3680	c.3556G>A	c.(3556-3558)Gtg>Atg	p.V1186M	DNAH17_ENST00000389840.5_Missense_Mutation_p.V1189M	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1189	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTGGTGCCACGGTCAGCTTC	0.582																																							0											0													31.0	32.0	32.0					17																	76523021		2023	4177	6200	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.3556G>A	17.37:g.76523021C>T	ENSP00000465516:p.Val1186Met		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.V1189M	ENST00000585328.1	37	c.3565		17	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030699	0.75504	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.25749	1.78	4.45	4.45	0.53987	.	.	.	.	.	T	0.51092	0.1654	M	0.82132	2.575	0.44834	D	0.997842	.	.	.	.	.	.	T	0.59172	-0.7504	7	0.66056	D	0.02	.	17.2758	0.87114	0.0:1.0:0.0:0.0	.	.	.	.	M	1186;1189	ENSP00000374490:V1189M	ENSP00000300671:V1186M	V	-	1	0	DNAH17	74034616	0.998000	0.40836	1.000000	0.80357	0.547000	0.35210	3.683000	0.54663	2.311000	0.77944	0.561000	0.74099	GTG	0	NULL		0.582	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	protein_coding	OTTHUMT00000318962.2	48	138	0	0.00	0	0	C	NM_173628	0	0		76523021	-1	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	34	106	10.53	21.48	4	29	SNP	1	T
KATNAL2	83473	genome.wustl.edu	37	18	44595919	44595919	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr18:44595919C>T	ENST00000245121.5	+	10	934	c.740C>T	c.(739-741)tCt>tTt	p.S247F	KATNAL2_ENST00000356157.7_Missense_Mutation_p.S319F|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TTTAACATTTCTGCATCCACC	0.368																																							0											0													94.0	91.0	92.0					18																	44595919		2203	4300	6503	SO:0001583	missense	0			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.740C>T	18.37:g.44595919C>T	ENSP00000245121:p.Ser247Phe			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S247F	ENST00000245121.5	37	c.740	CCDS32828.1	18	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970322	0.92919	.	.	ENSG00000167216	ENST00000356157;ENST00000245121;ENST00000454462	D;D	0.95724	-3.79;-3.79	5.78	5.78	0.91487	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98333	0.9447	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98842	1.0755	10	0.87932	D	0	-22.4362	20.0022	0.97423	0.0:1.0:0.0:0.0	.	319	Q8IYT4	KATL2_HUMAN	F	319;247;87	ENSP00000348478:S319F;ENSP00000245121:S247F	ENSP00000245121:S247F	S	+	2	0	KATNAL2	42849917	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.776000	0.85560	2.738000	0.93877	0.655000	0.94253	TCT	0	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.368	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	KATNAL2	protein_coding	OTTHUMT00000446138.2	131	299	0	0.33	0	1	C	NM_031303	0	0		44595919	1	no_errors	ENST00000245121	ensembl	human	known	74_37	missense	84	240	13.27	24.76	13	79	SNP	1	T
DSEL	92126	genome.wustl.edu	37	18	65181841	65181841	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr18:65181841G>A	ENST00000310045.7	-	2	1508	c.35C>T	c.(34-36)gCg>gTg	p.A12V	RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	2					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAACATTAACGCCATGATCCA	0.393																																							0											0													70.0	66.0	67.0					18																	65181841		2203	4299	6502	SO:0001583	missense	0			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.35C>T	18.37:g.65181841G>A	ENSP00000310565:p.Ala12Val		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.A12V	ENST00000310045.7	37	c.35	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030696	0.93575	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.24538	1.85	5.01	5.01	0.66863	.	0.305004	0.30320	U	0.009881	T	0.44456	0.1294	L	0.41236	1.265	0.51012	D	0.999906	D	0.89917	1.0	D	0.78314	0.991	T	0.42548	-0.9445	10	0.87932	D	0	-0.1329	18.3235	0.90246	0.0:0.0:1.0:0.0	.	2	Q8IZU8	DSEL_HUMAN	V	12;2	ENSP00000310565:A12V	ENSP00000310565:A12V	A	-	2	0	DSEL	63332821	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.134000	0.89606	2.332000	0.79248	0.561000	0.74099	GCG	0	NULL		0.393	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	protein_coding	OTTHUMT00000256221.1	66	282	0	0.00	0	0	G	NM_032160	0	0		65181841	-1	no_errors	ENST00000310045	ensembl	human	known	74_37	missense	50	211	20.63	16.80	13	43	SNP	1	A
RTTN	25914	genome.wustl.edu	37	18	67733068	67733068	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr18:67733068G>A	ENST00000255674.6	-	35	5030	c.4744C>T	c.(4744-4746)Caa>Taa	p.Q1582*	RTTN_ENST00000437017.1_Nonsense_Mutation_p.Q1582*|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1582					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGGATACCTTGAGCCACAAAC	0.388																																							0											0													116.0	112.0	113.0					18																	67733068		1864	4098	5962	SO:0001587	stop_gained	0			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4744C>T	18.37:g.67733068G>A	ENSP00000255674:p.Gln1582*		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.Q1582*	ENST00000255674.6	37	c.4744	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	G	43	10.167181	0.99351	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	.	.	.	5.67	2.86	0.33363	.	0.570036	0.18214	N	0.148090	.	.	.	.	.	.	0.41271	D	0.986842	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	8.1267	0.31003	0.082:0.3027:0.6153:0.0	.	.	.	.	X	1582	.	ENSP00000255674:Q1582X	Q	-	1	0	RTTN	65884048	0.992000	0.36948	0.157000	0.22605	0.356000	0.29392	2.817000	0.48034	0.397000	0.25310	-0.283000	0.09986	CAA	0	NULL		0.388	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	protein_coding	OTTHUMT00000442988.1	88	279	0	0.00	0	0	G	NM_173630	0	0		67733068	-1	no_errors	ENST00000255674	ensembl	human	known	74_37	nonsense	60	267	22.08	20.06	17	67	SNP	0.431	A
MYO1F	4542	genome.wustl.edu	37	19	8615522	8615522	+	Silent	SNP	G	G	A	rs200593021		TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr19:8615522G>A	ENST00000338257.8	-	9	1095	c.828C>T	c.(826-828)ctC>ctT	p.L276L	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	276	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCCCCGCCACGAGCTGCAGGA	0.592																																							0											0													67.0	72.0	70.0					19																	8615522		2002	4178	6180	SO:0001819	synonymous_variant	0			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.828C>T	19.37:g.8615522G>A			Q8WWN7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.L276	ENST00000338257.8	37	c.828	CCDS42494.1	19																																																																																			0	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.592	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	protein_coding	OTTHUMT00000342716.2	26	127	0	0.00	0	0	G		rs200593021	G->A		8615522	-1	no_errors	ENST00000338257	ensembl	human	known	74_37	silent	13	123	31.58	24.07	6	39	SNP	0.058	A
SMARCA4	6597	genome.wustl.edu	37	19	11132513	11132513	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr19:11132513C>T	ENST00000429416.3	+	20	3010	c.2729C>T	c.(2728-2730)aCg>aTg	p.T910M	SMARCA4_ENST00000541122.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T910M|SMARCA4_ENST00000358026.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T910M|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T910M|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T910M	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	910	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.T910M(6)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGCTGCTGACGGGCACACCG	0.592			"""F, N, Mis"""		NSCLC																																		0		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	7	Substitution - Missense(6)|Unknown(1)	central_nervous_system(6)|lung(1)											88.0	68.0	75.0					19																	11132513		2203	4300	6503	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2729C>T	19.37:g.11132513C>T	ENSP00000395654:p.Thr910Met		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.T910M	ENST00000429416.3	37	c.2729	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061387	0.55432	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	4.51	4.51	0.55191	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	H	0.98507	4.25	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.998;0.998;0.996;0.994;1.0;0.998;0.998	D	0.98869	1.0765	10	0.87932	D	0	-34.7546	16.1519	0.81629	0.0:1.0:0.0:0.0	.	910;910;910;910;910;130;910;910	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	M	910;910;974;910;910;910;910;910	ENSP00000395654:T910M;ENSP00000350720:T910M;ENSP00000343896:T910M;ENSP00000445036:T910M;ENSP00000392837:T910M;ENSP00000397783:T910M;ENSP00000414727:T910M	ENSP00000343896:T910M	T	+	2	0	SMARCA4	10993513	1.000000	0.71417	0.968000	0.41197	0.009000	0.06853	7.651000	0.83577	2.348000	0.79779	0.655000	0.94253	ACG	0	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	protein_coding	OTTHUMT00000452638.2	19	51	0	0.00	0	0	C	NM_003072	0	0		11132513	1	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	20	56	31.03	21.13	9	15	SNP	0.999	T
SMARCA4	6597	genome.wustl.edu	37	19	11141493	11141493	+	Missense_Mutation	SNP	G	G	A	rs11537675		TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr19:11141493G>A	ENST00000429416.3	+	26	3751	c.3470G>A	c.(3469-3471)cGg>cAg	p.R1157Q	SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1157Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1157Q|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1157Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1157Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1157Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1157Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1157Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1157Q	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1157	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		R -> G (in MRD16; dbSNP:rs281875230). {ECO:0000269|PubMed:22426308}.		aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCAGCACCCGGGCTGGGGGG	0.617			"""F, N, Mis"""		NSCLC																																		0		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											24.0	26.0	26.0					19																	11141493		2196	4299	6495	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3470G>A	19.37:g.11141493G>A	ENSP00000395654:p.Arg1157Gln		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.R1157Q	ENST00000429416.3	37	c.3470	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.400009	0.96030	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	4.59	4.59	0.56863	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87740	0.6253	M	0.87038	2.855	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;0.999;1.0;1.0	D	0.90129	0.4205	10	0.87932	D	0	-38.2138	16.3247	0.82975	0.0:0.0:1.0:0.0	.	1157;1157;1157;1157;1157;377;1157;1157	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	Q	1157;1157;1221;1157;1157;1157;1157;1157	ENSP00000395654:R1157Q;ENSP00000350720:R1157Q;ENSP00000343896:R1157Q;ENSP00000445036:R1157Q;ENSP00000392837:R1157Q;ENSP00000397783:R1157Q;ENSP00000414727:R1157Q	ENSP00000343896:R1157Q	R	+	2	0	SMARCA4	11002493	1.000000	0.71417	0.972000	0.41901	0.975000	0.68041	9.389000	0.97243	2.389000	0.81357	0.563000	0.77884	CGG	0	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.617	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	protein_coding	OTTHUMT00000452638.2	97	230	0	0.00	0	0	G	NM_003072	0	0		11141493	1	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	61	204	20.78	21.84	16	57	SNP	0.998	A
PVR	5817	genome.wustl.edu	37	19	45153101	45153101	+	Missense_Mutation	SNP	G	G	C			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr19:45153101G>C	ENST00000425690.3	+	3	747	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	PVR_ENST00000406449.4_Missense_Mutation_p.E150Q|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Missense_Mutation_p.E150Q|PVR_ENST00000403059.4_Missense_Mutation_p.E150Q	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	150	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GAACACAGCTGAGGTTCAGAA	0.582																																							0											0													132.0	141.0	138.0					19																	45153101		2203	4299	6502	SO:0001583	missense	0			BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.448G>C	19.37:g.45153101G>C	ENSP00000402060:p.Glu150Gln		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.E150Q	ENST00000425690.3	37	c.448	CCDS12640.1	19	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570312	0.65765	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	4.54	2.14	0.27477	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);	0.612178	0.14597	N	0.309850	D	0.85362	0.5679	M	0.88105	2.93	0.09310	N	1	D;D;P;P	0.58620	0.978;0.983;0.92;0.856	P;P;P;P	0.61874	0.894;0.895;0.721;0.858	T	0.74538	-0.3632	10	0.14656	T	0.56	.	8.7167	0.34416	0.0:0.0:0.5872:0.4128	.	150;150;150;150	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	Q	150	ENSP00000340870:E150Q;ENSP00000402060:E150Q;ENSP00000383907:E150Q;ENSP00000385344:E150Q	ENSP00000340870:E150Q	E	+	1	0	PVR	49844941	0.047000	0.20315	0.013000	0.15412	0.440000	0.31957	1.013000	0.29937	0.836000	0.34901	0.491000	0.48974	GAG	0	pfam_CD80_C2-set,pfscan_Ig-like_dom		0.582	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVR	protein_coding	OTTHUMT00000323017.2	23	130	0	0.00	0	0	G	NM_006505	0	0		45153101	1	no_errors	ENST00000425690	ensembl	human	known	74_37	missense	13	129	18.75	16.77	3	26	SNP	0.004	C
EMP3	2014	genome.wustl.edu	37	19	48832713	48832713	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr19:48832713C>T	ENST00000270221.6	+	4	587	c.286C>T	c.(286-288)Ctc>Ttc	p.L96F	EMP3_ENST00000597279.1_Missense_Mutation_p.L96F|EMP3_ENST00000596315.1_Missense_Mutation_p.L27F	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	96					cell growth (GO:0016049)|negative regulation of cell proliferation (GO:0008285)	integral component of membrane (GO:0016021)				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		ACGAGGAGGTCTCTTCTATGC	0.577																																							0											0													243.0	170.0	195.0					19																	48832713		2203	4300	6503	SO:0001583	missense	0			U52101	CCDS12715.1	19q13.3	2008-07-16				ENSG00000142227			3335	protein-coding gene	gene with protein product		602335				8996089, 10331954	Standard	NM_001425		Approved	YMP	uc002piv.2	P54852		ENST00000270221.6:c.286C>T	19.37:g.48832713C>T	ENSP00000270221:p.Leu96Phe		Q6FH01	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_EMP_3,prints_PMP22_EMP_MP20	p.L96F	ENST00000270221.6	37	c.286	CCDS12715.1	19	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402793	0.62288	.	.	ENSG00000142227	ENST00000270221	D	0.88509	-2.39	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.93423	0.7902	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.93794	0.7095	10	0.72032	D	0.01	.	17.0478	0.86509	0.0:1.0:0.0:0.0	.	96	P54852	EMP3_HUMAN	F	96	ENSP00000270221:L96F	ENSP00000270221:L96F	L	+	1	0	EMP3	53524525	0.994000	0.37717	1.000000	0.80357	0.152000	0.21847	6.828000	0.75308	2.760000	0.94817	0.544000	0.68410	CTC	0	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20		0.577	EMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMP3	protein_coding	OTTHUMT00000465613.1	56	169	0	0.59	0	1	C	NM_001425	0	0		48832713	1	no_errors	ENST00000270221	ensembl	human	known	74_37	missense	32	164	21.95	21.15	9	44	SNP	1	T
ZNF600	162966	genome.wustl.edu	37	19	53269290	53269290	+	Silent	SNP	A	A	C			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr19:53269290A>C	ENST00000338230.3	-	3	1986	c.1719T>G	c.(1717-1719)cgT>cgG	p.R573R		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	573					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TATGAAGTCTACGATGGTGAA	0.438																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)		0											0													212.0	203.0	206.0					19																	53269290		2203	4300	6503	SO:0001819	synonymous_variant	0			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1719T>G	19.37:g.53269290A>C			Q6MZR0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R573	ENST00000338230.3	37	c.1719	CCDS12856.1	19																																																																																			0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	protein_coding	OTTHUMT00000463093.1	165	51	0	0.00	0	0	A	NM_198457	0	0		53269290	-1	no_errors	ENST00000338230	ensembl	human	known	74_37	silent	99	45	22.66	16.67	29	9	SNP	0.709	C
IDH3B	3420	genome.wustl.edu	37	20	2639397	2639397	+	Nonstop_Mutation	SNP	C	C	G			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr20:2639397C>G	ENST00000380843.4	-	12	1188	c.1158G>C	c.(1156-1158)taG>taC	p.*386Y	IDH3B_ENST00000488299.1_5'UTR|SNORD57_ENST00000448188.1_RNA|SNORD86_ENST00000391196.1_RNA|IDH3B_ENST00000380851.5_Intron|SNORD56_ENST00000413522.1_RNA	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	0					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						ATAAAGGGCTCTAGCTCCCTT	0.547																																							0											0													177.0	154.0	162.0					20																	2639397		2203	4300	6503	SO:0001578	stop_lost	0				CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.1158G>C	20.37:g.2639397C>G			B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Nonstop_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.*386Y	ENST00000380843.4	37	c.1158	CCDS13032.1	20	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454424	0.43634	.	.	ENSG00000101365	ENST00000380843;ENST00000435594	.	.	.	5.42	3.49	0.39957	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4713	0.32986	0.0:0.8206:0.0:0.1794	.	.	.	.	Y	386;234	.	.	X	-	3	2	IDH3B	2587397	0.991000	0.36638	1.000000	0.80357	0.884000	0.51177	2.699000	0.47077	0.663000	0.31027	0.585000	0.79938	TAG	0	NULL		0.547	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IDH3B	protein_coding	OTTHUMT00000077613.1	42	226	0	0.00	0	0	C		0	0		2639397	-1	no_errors	ENST00000380843	ensembl	human	known	74_37	nonstop	22	209	42.11	20.23	16	53	SNP	1	G
TTC28	23331	genome.wustl.edu	37	22	28501578	28501578	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr22:28501578G>A	ENST00000397906.2	-	8	3137	c.2996C>T	c.(2995-2997)gCa>gTa	p.A999V		NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	999					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						GCCACAGGCTGCGTCACTCTC	0.532																																							0											0													91.0	83.0	85.0					22																	28501578		692	1591	2283	SO:0001583	missense	0			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.2996C>T	22.37:g.28501578G>A	ENSP00000381003:p.Ala999Val		K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A999V	ENST00000397906.2	37	c.2996	CCDS46678.1	22	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938204	0.92526	.	.	ENSG00000100154	ENST00000397906	D	0.94862	-3.54	5.81	5.81	0.92471	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.97455	0.9167	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97249	0.9896	10	0.52906	T	0.07	-20.1783	19.0707	0.93134	0.0:0.0:1.0:0.0	.	999	Q96AY4	TTC28_HUMAN	V	999	ENSP00000381003:A999V	ENSP00000381003:A999V	A	-	2	0	TTC28	26831578	1.000000	0.71417	0.737000	0.30932	0.991000	0.79684	8.971000	0.93419	2.746000	0.94184	0.655000	0.94253	GCA	0	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.532	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28	protein_coding	OTTHUMT00000320930.2	23	204	0	0.00	0	0	G	XM_929318	0	0		28501578	-1	no_errors	ENST00000397906	ensembl	human	novel	74_37	missense	19	229	20.83	22.56	5	67	SNP	1	A
GAS2L1	10634	genome.wustl.edu	37	22	29704683	29704683	+	Silent	SNP	C	C	T			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr22:29704683C>T	ENST00000406549.3	+	2	738	c.588C>T	c.(586-588)cgC>cgT	p.R196R	GAS2L1_ENST00000471961.1_Silent_p.R196R|GAS2L1_ENST00000403764.1_Silent_p.R196R|GAS2L1_ENST00000407647.2_Silent_p.R196R|GAS2L1_ENST00000407854.1_Silent_p.R196R|GAS2L1_ENST00000341313.6_Silent_p.R196R|GAS2L1_ENST00000360113.2_Silent_p.R196R	NM_001278730.1	NP_001265659.1	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	196					cell cycle arrest (GO:0007050)|cellular response to starvation (GO:0009267)|cellular response to thyroid hormone stimulus (GO:0097067)|microtubule bundle formation (GO:0001578)|negative regulation of cell growth (GO:0030308)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of gene expression (GO:0010629)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)|thyroid hormone receptor binding (GO:0046966)			endometrium(2)|lung(2)|prostate(1)	5						CTCCTGCCCGCGGCCCCCGCA	0.706																																							0											0													7.0	11.0	10.0					22																	29704683		2152	4245	6397	SO:0001819	synonymous_variant	0			BC001782	CCDS63438.1, CCDS74840.1	22q12.2	2008-06-11			ENSG00000185340	ENSG00000185340			16955	protein-coding gene	gene with protein product		602128				8975699, 12584248, 1607387	Standard	NM_001278730		Approved	GAR22	uc003afc.1	Q99501	OTTHUMG00000151108	ENST00000406549.3:c.588C>T	22.37:g.29704683C>T			B5MCR7|Q53EN7|Q92640|Q9BUY9	Silent	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.R196	ENST00000406549.3	37	c.588		22																																																																																			0	NULL		0.706	GAS2L1-002	PUTATIVE	basic|exp_conf	protein_coding	GAS2L1	protein_coding	OTTHUMT00000321365.1	14	67	0	0.00	0	0	C	NM_006478	0	0		29704683	1	no_errors	ENST00000403764	ensembl	human	known	74_37	silent	9	106	25	20.90	3	28	SNP	0.235	T
HECTD4	283450	genome.wustl.edu	37	12	112717046	112717046	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr12:112717046delA	ENST00000430131.2	-	9	1636	c.491delT	c.(490-492)ttgfs	p.L164fs	HECTD4_ENST00000550722.1_Frame_Shift_Del_p.L414fs|HECTD4_ENST00000377560.5_Frame_Shift_Del_p.L414fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	164					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TAAAGATGACAAACCACTTGT	0.408																																							0											0													72.0	72.0	72.0					12																	112717046		1852	4089	5941	SO:0001589	frameshift_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.491delT	12.37:g.112717046delA	ENSP00000404379:p.Leu164fs		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Del	DEL	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.L414fs	ENST00000430131.2	37	c.1241		12																																																																																			0	NULL		0.408	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	protein_coding		102	313	0	0.00	0	0	A	NM_173813	0	0		112717046	-1	no_errors	ENST00000377560	ensembl	human	known	74_37	frame_shift_del	46	293	25.81	16.52	16	58	DEL	1	0
KRT19	3880	genome.wustl.edu	37	17	39680635	39680635	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr17:39680635delC	ENST00000361566.3	-	4	878	c.818delG	c.(817-819)agcfs	p.S273fs	KRT15_ENST00000254043.3_5'Flank|KRT15_ENST00000393976.2_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	273	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				ACCTACCCGGCTGGTGAACCA	0.572																																							0											0													72.0	72.0	72.0					17																	39680635		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.818delG	17.37:g.39680635delC	ENSP00000355124:p.Ser273fs		B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Frame_Shift_Del	DEL	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.S273fs	ENST00000361566.3	37	c.818	CCDS11399.1	17																																																																																			0	pfam_IF,superfamily_Prefoldin		0.572	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT19	protein_coding	OTTHUMT00000257285.1	44	194	0	0.00	0	0	C	NM_002276	0	0		39680635	-1	no_errors	ENST00000361566	ensembl	human	known	74_37	frame_shift_del	38	231	9.52	21.69	4	64	DEL	0.001	0
ASXL1	171023	genome.wustl.edu	37	20	31022441	31022442	+	Frame_Shift_Ins	INS	-	-	G			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr20:31022441_31022442insG	ENST00000375687.4	+	13	2350_2351	c.1926_1927insG	c.(1927-1929)gggfs	p.G643fs	ASXL1_ENST00000306058.5_Frame_Shift_Ins_p.G638fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	643	Gly-rich.|Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G643fs*15(5)|p.A640fs*14(2)|p.T639_G659>PPWD(1)|p.A637fs*13(1)|p.A640_S664>PCSGG(1)|p.T639fs*14(1)|p.T639fs*19(1)|p.T639_P647>PPSDGS(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTGCCATCGGAGGGGGGGGTGG	0.693			"""F, N, Mis"""		"""MDS, CMML"""																																		0		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	13	Insertion - Frameshift(5)|Deletion - Frameshift(4)|Complex - deletion inframe(3)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(13)																																								SO:0001589	frameshift_variant	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1934dupG	20.37:g.31022449_31022449dupG	ENSP00000364839:p.Gly643fs		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Frame_Shift_Ins	INS	NULL	p.G645fs	ENST00000375687.4	37	c.1926_1927	CCDS13201.1	20																																																																																			0	NULL		0.693	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	protein_coding	OTTHUMT00000078624.2	83	28	1.19	0.00	1	0	0	NM_015338	0	0		31022442	1	no_errors	ENST00000375687	ensembl	human	known	74_37	frame_shift_ins	67	53	18.29	7.02	15	4	INS	1.000:1.000	G
WASH6P	653440	genome.wustl.edu	37	X	155253916	155253916	+	RNA	SNP	A	A	C			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chrX:155253916A>C	ENST00000461007.1	+	0	2832				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										ggagaagaagaagcagaagga	0.652																																							0											0																																												0			AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155253916A>C			A6NGF1|Q8N305	RNA	SNP	0	NULL	ENST00000461007.1	37	NULL		X	.	.	.	.	.	.	.	.	.	.	N	13.43	2.234820	0.39498	.	.	ENSG00000182484	ENST00000359512;ENST00000285718	.	.	.	0.379	0.379	0.16213	.	0.146628	0.64402	N	0.000013	T	0.24275	0.0588	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.11324	-1.0592	6	0.27785	T	0.31	-1.7776	4.9924	0.14220	0.9998:0.0:2.0E-4:0.0	.	.	.	.	Q	405;374	.	ENSP00000285718:K374Q	K	+	1	0	WASH6P	154907110	1.000000	0.71417	0.919000	0.36401	0.622000	0.37654	6.049000	0.71053	0.350000	0.24002	0.143000	0.16000	AAG	0	0		0.652	WASH6P-016	KNOWN	basic	processed_transcript	ENSG00000270726	pseudogene	OTTHUMT00000058840.1	10	0	9.09	0.00	1	0	A	NG_008380	0	0		155253916	1	no_errors	ENST00000285718	ensembl	human	known	74_37	rna	2	0	75	0.00	6	0	SNP	1	C
PCDHB2	56133	genome.wustl.edu	37	5	140476031	140476031	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr5:140476031G>A	ENST00000194155.4	+	1	1805	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	553	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCGTGCTGGTGCTGGACGC	0.731																																							0											0													23.0	25.0	25.0					5																	140476031		2196	4285	6481	SO:0001583	missense	0			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1657G>A	5.37:g.140476031G>A	ENSP00000194155:p.Val553Met		Q4KMU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V553M	ENST00000194155.4	37	c.1657	CCDS4244.1	5	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977748	0.53720	.	.	ENSG00000112852	ENST00000194155	T	0.68181	-0.31	4.5	3.6	0.41247	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.84660	0.5521	H	0.95151	3.63	0.26226	N	0.979083	D	0.76494	0.999	D	0.71414	0.973	T	0.75459	-0.3310	9	0.87932	D	0	.	8.1078	0.30896	0.0856:0.161:0.7534:0.0	.	553	Q9Y5E7	PCDB2_HUMAN	M	553	ENSP00000194155:V553M	ENSP00000194155:V553M	V	+	1	0	PCDHB2	140456215	0.999000	0.42202	0.714000	0.30535	0.982000	0.71751	3.373000	0.52394	0.986000	0.38683	0.556000	0.70494	GTG	0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.731	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	protein_coding	OTTHUMT00000251801.2	141	0	0.7	0.00	1	0	G	NM_018936	0	0		140476031	1	no_errors	ENST00000194155	ensembl	human	known	74_37	missense	92	3	19.3	0.00	22	0	SNP	0.496	A
CHEK2	11200	genome.wustl.edu	37	22	29090049	29090049	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr22:29090049C>A	ENST00000405598.1	-	14	1623	c.1432G>T	c.(1432-1434)Gaa>Taa	p.E478*	CHEK2_ENST00000402731.1_Nonsense_Mutation_p.E449*|CHEK2_ENST00000348295.3_Nonsense_Mutation_p.E449*|CHEK2_ENST00000403642.1_Nonsense_Mutation_p.E387*|CHEK2_ENST00000328354.6_Nonsense_Mutation_p.E478*|CHEK2_ENST00000544772.1_Nonsense_Mutation_p.E257*|CHEK2_ENST00000382578.1_Nonsense_Mutation_p.E387*|CHEK2_ENST00000404276.1_Nonsense_Mutation_p.E478*|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Nonsense_Mutation_p.E521*|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	478	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AAGGCTTCTTCTGTCGTAAAA	0.468			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																															0	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0													224.0	248.0	239.0					22																	29090049		1388	2348	3736	SO:0001587	stop_gained	0			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1432G>T	22.37:g.29090049C>A	ENSP00000386087:p.Glu478*		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom	p.E521*	ENST00000405598.1	37	c.1561	CCDS13843.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	49|49	15.332874|15.332874	0.99830|0.99830	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731|ENST00000434810	.|.	.|.	.|.	5.46|5.46	4.42|4.42	0.53409|0.53409	.|.	0.229422|.	0.44483|.	D|.	0.000444|.	.|T	.|0.59487	.|0.2197	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57010	.|-0.7884	.|4	0.23891|.	T|.	0.37|.	-14.5307|-14.5307	8.862|8.862	0.35263|0.35263	0.0:0.7704:0.1514:0.0782|0.0:0.7704:0.1514:0.0782	.|.	.|.	.|.	.|.	X|H	449;387;161;257;478;478;478;521;387;449|210	.|.	ENSP00000329178:E478X|.	E|Q	-|-	1|3	0|2	CHEK2|CHEK2	27420049|27420049	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.114000|2.114000	0.41911|0.41911	1.277000|1.277000	0.44412|0.44412	0.555000|0.555000	0.69702|0.69702	GAA|CAG	0	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.468	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHEK2	protein_coding	OTTHUMT00000321150.1	193	0	0	0.00	0	0	C	NM_001005735	0	0		29090049	-1	no_errors	ENST00000382580	ensembl	human	known	74_37	nonsense	133	0	19.88	0.00	33	0	SNP	1	A
POTEB2	100287399	genome.wustl.edu	37	15	21038145	21038146	+	IGR	INS	-	-	TTAT			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr15:21038145_21038146insTTAT	ENST00000454856.4	-	0	1687				MIR3118-4_ENST00000584700.1_RNA	NM_001277303.1	NP_001264232.1	H3BUK9	POTB2_HUMAN	POTE ankyrin domain family, member B2																		aattttcataatgcaatcacac	0.446																																							0											0																																										SO:0001628	intergenic_variant	0				CCDS59248.1	15q11.2	2014-01-29			ENSG00000230031	ENSG00000230031		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	48327	protein-coding gene	gene with protein product							Standard	NM_001277303		Approved			H3BUK9	OTTHUMG00000185829		15.37:g.21038145_21038146insTTAT				RNA	INS	0	NULL	ENST00000454856.4	37	NULL	CCDS59248.1	15																																																																																			0	0		0.446	POTEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3118-4	protein_coding	OTTHUMT00000471435.1	20	5	4.76	0.00	1	0	0		0	0		21038146	1	no_errors	ENST00000584700	ensembl	human	known	74_37	rna	12	5	33.33	0.00	6	0	INS	0.000:0.000	TTAT
