#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AAAS	8086	genome.wustl.edu	37	12	53714438	53714438	+	Silent	SNP	G	G	A			TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr12:53714438G>A	ENST00000209873.4	-	2	327	c.162C>T	c.(160-162)ccC>ccT	p.P54P	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Silent_p.P54P|AAAS_ENST00000550286.1_5'UTR	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	54					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)		p.P54P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GGGTCTTTAGGGGATCCTTTG	0.483																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											137.0	120.0	126.0					12																	53714438		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.162C>T	12.37:g.53714438G>A			Q5JB47|Q9NWI6|Q9UG19	Silent	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P54	ENST00000209873.4	37	c.162	CCDS8856.1	12																																																																																			AAAS	-	NULL	ENSG00000094914		0.483	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAAS	HGNC	protein_coding	OTTHUMT00000405632.1	143	0.00	0	G			53714438	53714438	-1	no_errors	ENST00000209873	ensembl	human	known	69_37n	silent	112	36.72	65	SNP	0.915	A
ADCY7	113	genome.wustl.edu	37	16	50334752	50334753	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr16:50334752_50334753delGG	ENST00000394697.2	+	9	1543_1544	c.1203_1204delGG	c.(1201-1206)ctggccfs	p.A402fs	ADCY7_ENST00000538642.1_Frame_Shift_Del_p.A402fs|ADCY7_ENST00000254235.3_Frame_Shift_Del_p.A402fs|ADCY7_ENST00000537579.1_Frame_Shift_Del_p.A402fs|ADCY7_ENST00000566433.2_Frame_Shift_Del_p.A402fs			P51828	ADCY7_HUMAN	adenylate cyclase 7	402	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		ACGTGTCCCTGGCCAACCGGAT	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1203_1204delGG	16.37:g.50334752_50334753delGG	ENSP00000378187:p.Ala402fs		A0AVA6	Frame_Shift_Del	DEL	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A402fs	ENST00000394697.2	37	c.1203_1204	CCDS10741.1	16																																																																																			ADCY7	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000121281		0.649	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	109	0.00	0	GG			50334752	50334753	+1	no_errors	ENST00000254235	ensembl	human	known	69_37n	frame_shift_del	62	42.59	46	DEL	0.999:1.000	-
C9orf43	257169	genome.wustl.edu	37	9	116186580	116186580	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr9:116186580A>G	ENST00000288462.4	+	8	1237	c.791A>G	c.(790-792)cAc>cGc	p.H264R	C9orf43_ENST00000374165.1_Missense_Mutation_p.H264R	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	264								p.H264R(1)		breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						CTATCTATACACCGCCTCACC	0.413																																						dbGAP											1	Substitution - Missense(1)	breast(1)											152.0	158.0	156.0					9																	116186580		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.791A>G	9.37:g.116186580A>G	ENSP00000288462:p.His264Arg			Missense_Mutation	SNP	NULL	p.H264R	ENST00000288462.4	37	c.791	CCDS6796.1	9	.	.	.	.	.	.	.	.	.	.	A	15.45	2.838170	0.50951	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.51574	0.7;0.7	4.33	3.2	0.36748	.	0.292847	0.24912	N	0.034609	T	0.32285	0.0824	L	0.29908	0.895	0.23298	N	0.99796	P	0.35844	0.524	B	0.35550	0.205	T	0.20672	-1.0268	10	0.59425	D	0.04	-7.0322	6.5291	0.22316	0.8934:0.0:0.1066:0.0	.	264	Q8TAL5	CI043_HUMAN	R	264	ENSP00000363280:H264R;ENSP00000288462:H264R	ENSP00000288462:H264R	H	+	2	0	C9orf43	115226401	0.047000	0.20315	0.841000	0.33234	0.765000	0.43378	0.846000	0.27682	1.002000	0.39104	0.460000	0.39030	CAC	C9orf43	-	NULL	ENSG00000157653		0.413	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	HGNC	protein_coding	OTTHUMT00000053739.1	199	0.00	0	A	NM_152786		116186580	116186580	+1	no_errors	ENST00000288462	ensembl	human	known	69_37n	missense	152	32.89	75	SNP	0.870	G
CADM2	253559	genome.wustl.edu	37	3	85008572	85008572	+	5'Flank	SNP	G	G	T	rs544337978	byFrequency	TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr3:85008572G>T	ENST00000407528.2	+	0	0				CADM2_ENST00000485126.1_3'UTR|CADM2_ENST00000383699.3_5'UTR	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2						adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CATTCTGCGGGTGCTTTGCCG	0.677													G|||	12	0.00239617	0.0076	0.0014	5008	,	,		11546	0.0		0.0	False		,,,				2504	0.001					dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990		3.37:g.85008572G>T	Exception_encountered		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	RNA	SNP	-	NULL	ENST00000407528.2	37	NULL	CCDS54614.1	3																																																																																			CADM2	-	-	ENSG00000175161		0.677	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM2	HGNC	protein_coding	OTTHUMT00000352822.1	61	0.00	0	G	NM_153184		85008572	85008572	+1	no_errors	ENST00000473523	ensembl	human	known	69_37n	rna	27	30.00	12	SNP	1.000	T
CCDC94	55702	genome.wustl.edu	37	19	4247167	4247167	+	Splice_Site	DEL	C	C	-	rs34322392	byFrequency	TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr19:4247167delC	ENST00000262962.7	+	1	92	c.24delC	c.(22-24)aac>aa	p.N8fs		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	8										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		AAGTATTAAACGTAAGTGTTG	0.512																																						dbGAP											0													132.0	121.0	125.0					19																	4247167		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK001236	CCDS12124.1	19p13.3	2008-02-05				ENSG00000105248			25518	protein-coding gene	gene with protein product						12477932	Standard	NM_018074		Approved	FLJ10374	uc002lzv.4	Q9BW85		ENST00000262962.7:c.24+1C>-	19.37:g.4247167delC			O75270|Q9H862|Q9NW16	Frame_Shift_Del	DEL	pfam_CWC16	p.N8fs	ENST00000262962.7	37	c.24	CCDS12124.1	19																																																																																			CCDC94	-	pfam_CWC16	ENSG00000105248		0.512	CCDC94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC94	HGNC	protein_coding	OTTHUMT00000458007.2	148	0.00	0	C	NM_018074	Frame_Shift_Del	4247167	4247167	+1	no_errors	ENST00000262962	ensembl	human	known	69_37n	frame_shift_del	218	35.17	121	DEL	1.000	-
FAM73B	84895	genome.wustl.edu	37	9	131812165	131812166	+	Frame_Shift_Ins	INS	-	-	G	rs142343271		TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr9:131812165_131812166insG	ENST00000358369.4	+	6	824_825	c.598_599insG	c.(598-600)cggfs	p.R200fs	FAM73B_ENST00000406926.2_Frame_Shift_Ins_p.R200fs|FAM73B_ENST00000277475.5_Frame_Shift_Ins_p.R200fs	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	200					bone development (GO:0060348)	integral component of membrane (GO:0016021)		p.R200L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CGTGGGCCAGCGGGGGGACAGC	0.634																																						dbGAP											1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.604dupG	9.37:g.131812171_131812171dupG	ENSP00000351138:p.Arg200fs		Q8NBM3|Q8TEJ6|Q969E6	Frame_Shift_Ins	INS	pfam_DUF2217	p.D202fs	ENST00000358369.4	37	c.598_599	CCDS6917.1	9																																																																																			FAM73B	-	pfam_DUF2217	ENSG00000148343		0.634	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM73B	HGNC	protein_coding	OTTHUMT00000054542.7	34	0.00	0	-	NM_032809		131812165	131812166	+1	no_errors	ENST00000358369	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	0.991:0.981	G
GNL2	29889	genome.wustl.edu	37	1	38034775	38034775	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr1:38034775G>C	ENST00000373062.3	-	13	1643	c.1545C>G	c.(1543-1545)caC>caG	p.H515Q	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	515					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.H515Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TAGCATCACAGTGACTGTTCT	0.483																																						dbGAP											1	Substitution - Missense(1)	breast(1)											169.0	152.0	158.0					1																	38034775		2203	4300	6503	-	-	-	SO:0001583	missense	0			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1545C>G	1.37:g.38034775G>C	ENSP00000362153:p.His515Gln		Q9BWN7	Missense_Mutation	SNP	pfam_NOG2_N_dom,pfam_GTP_binding_domain,prints_GTP_binding_domain	p.H515Q	ENST00000373062.3	37	c.1545	CCDS421.1	1	.	.	.	.	.	.	.	.	.	.	G	4.292	0.053435	0.08291	.	.	ENSG00000134697	ENST00000373062	T	0.20463	2.07	6.17	-4.34	0.03666	.	2.128900	0.01416	N	0.014189	T	0.08846	0.0219	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15492	-1.0435	10	0.14252	T	0.57	5.888	1.9448	0.03354	0.4438:0.1012:0.2486:0.2065	.	515	Q13823	NOG2_HUMAN	Q	515	ENSP00000362153:H515Q	ENSP00000362153:H515Q	H	-	3	2	GNL2	37807362	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.682000	0.05185	-1.267000	0.02443	-0.890000	0.02929	CAC	GNL2	-	NULL	ENSG00000134697		0.483	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL2	HGNC	protein_coding	OTTHUMT00000012478.1	169	0.00	0	G	NM_013285		38034775	38034775	-1	no_errors	ENST00000373062	ensembl	human	known	69_37n	missense	113	29.81	48	SNP	0.000	C
HCN1	348980	genome.wustl.edu	37	5	45396610	45396610	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr5:45396610C>T	ENST00000303230.4	-	4	1271	c.1214G>A	c.(1213-1215)cGg>cAg	p.R405Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	405					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R405Q(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTGATACTGCCGCCTCGAAGA	0.448																																						dbGAP											1	Substitution - Missense(1)	breast(1)											48.0	47.0	47.0					5																	45396610		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1214G>A	5.37:g.45396610C>T	ENSP00000307342:p.Arg405Gln			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.R405Q	ENST00000303230.4	37	c.1214	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810147	0.90707	.	.	ENSG00000164588	ENST00000303230	D	0.96554	-4.05	5.42	5.42	0.78866	Cyclic nucleotide-binding-like (1);	0.103621	0.39985	N	0.001209	D	0.93966	0.8068	M	0.68593	2.085	0.80722	D	1	P	0.50528	0.936	B	0.27796	0.083	D	0.95009	0.8150	10	0.87932	D	0	.	19.4084	0.94658	0.0:1.0:0.0:0.0	.	405	O60741	HCN1_HUMAN	Q	405	ENSP00000307342:R405Q	ENSP00000307342:R405Q	R	-	2	0	HCN1	45432367	0.930000	0.31532	0.957000	0.39632	0.997000	0.91878	7.651000	0.83577	2.820000	0.97059	0.650000	0.86243	CGG	HCN1	-	superfamily_cNMP-bd-like	ENSG00000164588		0.448	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	102	0.00	0	C	NM_021072		45396610	45396610	-1	no_errors	ENST00000303230	ensembl	human	known	69_37n	missense	89	33.08	44	SNP	1.000	T
KCNT2	343450	genome.wustl.edu	37	1	196300389	196300389	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr1:196300389T>C	ENST00000294725.9	-	18	2915	c.2000A>G	c.(1999-2001)tAt>tGt	p.Y667C	KCNT2_ENST00000451324.2_Missense_Mutation_p.Y278C|KCNT2_ENST00000367433.5_Missense_Mutation_p.Y667C|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.Y617C|KCNT2_ENST00000367431.4_Missense_Mutation_p.Y617C			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	667					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.Y667C(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACCTTTAGCATACCTGTAAAA	0.323																																						dbGAP											1	Substitution - Missense(1)	breast(1)											115.0	126.0	122.0					1																	196300389		2203	4294	6497	-	-	-	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2000A>G	1.37:g.196300389T>C	ENSP00000294725:p.Tyr667Cys		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.Y667C	ENST00000294725.9	37	c.2000	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.411674	0.25465	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	5.26	5.26	0.73747	.	0.000000	0.56097	D	0.000022	T	0.82001	0.4942	M	0.79805	2.47	0.40642	D	0.981954	B;B;B;B;B	0.19583	0.022;0.016;0.037;0.037;0.022	B;B;B;B;B	0.23419	0.013;0.018;0.046;0.046;0.013	T	0.80236	-0.1466	10	0.42905	T	0.14	-21.961	15.3291	0.74193	0.0:0.0:0.0:1.0	.	667;649;667;617;667	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	C	667;617;488;278;667	ENSP00000356403:Y667C;ENSP00000356401:Y617C;ENSP00000405474:Y278C;ENSP00000294725:Y667C	ENSP00000294725:Y667C	Y	-	2	0	KCNT2	194567012	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	0.889000	0.28282	2.216000	0.71823	0.397000	0.26171	TAT	KCNT2	-	NULL	ENSG00000162687		0.323	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	134	0.00	0	T	NM_198503		196300389	196300389	-1	no_errors	ENST00000294725	ensembl	human	known	69_37n	missense	97	70.06	227	SNP	1.000	C
GPALPP1	55425	genome.wustl.edu	37	13	45580344	45580344	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr13:45580344A>G	ENST00000379151.4	+	3	332	c.229A>G	c.(229-231)Agg>Ggg	p.R77G	GPALPP1_ENST00000357537.3_5'UTR|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000361121.2_Missense_Mutation_p.R77G	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	77								p.R77G(1)									CAGAAAACAGAGGAAAAATCA	0.318																																						dbGAP											1	Substitution - Missense(1)	breast(1)											156.0	157.0	156.0					13																	45580344		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.229A>G	13.37:g.45580344A>G	ENSP00000368447:p.Arg77Gly		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Missense_Mutation	SNP	pfam_DUF3752	p.R77G	ENST00000379151.4	37	c.229	CCDS9394.1	13	.	.	.	.	.	.	.	.	.	.	A	11.17	1.559574	0.27827	.	.	ENSG00000133114	ENST00000379151;ENST00000361121	.	.	.	4.9	4.9	0.64082	.	0.574625	0.18621	N	0.135867	T	0.53061	0.1773	M	0.62723	1.935	0.33235	D	0.556479	B	0.17038	0.02	B	0.14023	0.01	T	0.59209	-0.7497	9	0.22109	T	0.4	-0.9742	12.2844	0.54783	1.0:0.0:0.0:0.0	.	77	Q8IXQ4	K1704_HUMAN	G	77	.	ENSP00000355211:R77G	R	+	1	2	KIAA1704	44478344	1.000000	0.71417	0.978000	0.43139	0.290000	0.27261	4.345000	0.59360	1.838000	0.53458	0.533000	0.62120	AGG	KIAA1704	-	NULL	ENSG00000133114		0.318	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1704	HGNC	protein_coding	OTTHUMT00000044749.2	83	0.00	0	A	NM_018559		45580344	45580344	+1	no_errors	ENST00000361121	ensembl	human	known	69_37n	missense	87	35.07	47	SNP	0.982	G
LCTL	197021	genome.wustl.edu	37	15	66853388	66853388	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr15:66853388G>C	ENST00000341509.5	-	6	792	c.661C>G	c.(661-663)Ctc>Gtc	p.L221V	LCTL_ENST00000563438.1_5'Flank|LCTL_ENST00000537670.1_Missense_Mutation_p.L48V	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	221					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.L221V(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGCCGCGGAGCTTCAGGCCC	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											67.0	66.0	66.0					15																	66853388		2201	4299	6500	-	-	-	SO:0001583	missense	0			AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.661C>G	15.37:g.66853388G>C	ENSP00000343490:p.Leu221Val		B3KQY0	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.L221V	ENST00000341509.5	37	c.661	CCDS10220.1	15	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834337	0.32421	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.51325	0.71;1.48	5.26	5.26	0.73747	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.52126	1.63	0.53688	D	0.999972	D	0.60160	0.987	P	0.61201	0.885	T	0.49826	-0.8898	10	0.16420	T	0.52	-29.1862	18.2284	0.89926	0.0:0.0:1.0:0.0	.	221	Q6UWM7	LCTL_HUMAN	V	48;221	ENSP00000445419:L48V;ENSP00000343490:L221V	ENSP00000343490:L221V	L	-	1	0	LCTL	64640442	1.000000	0.71417	0.986000	0.45419	0.203000	0.24098	4.048000	0.57390	2.629000	0.89072	0.655000	0.94253	CTC	LCTL	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000188501		0.597	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCTL	HGNC	protein_coding	OTTHUMT00000256921.2	117	0.00	0	G	NM_207338		66853388	66853388	-1	no_errors	ENST00000341509	ensembl	human	known	69_37n	missense	44	41.33	31	SNP	1.000	C
MAPKAPK3	7867	genome.wustl.edu	37	3	50655079	50655080	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr3:50655079_50655080insG	ENST00000446044.1	+	4	679_680	c.83_84insG	c.(82-87)ccggggfs	p.PG28fs	MAPKAPK3_ENST00000357955.2_Frame_Shift_Ins_p.PG28fs	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	28			P -> S (in a glioblastoma multiforme sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)	p.R31fs*47(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GGCGGTGCTCCGGGGGGGCGGC	0.698																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)								14,4250		0,14,2118						0.6	0.0			46	10,8244		0,10,4117	no	frameshift	MAPKAPK3	NM_004635.4		0,24,6235	A1A1,A1R,RR		0.1212,0.3283,0.1917				24,12494				-	-	-	SO:0001589	frameshift_variant	0			U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.90dupG	3.37:g.50655086_50655086dupG	ENSP00000396467:p.Pro28fs		B5BU67	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R31fs	ENST00000446044.1	37	c.83_84	CCDS2832.1	3																																																																																			MAPKAPK3	-	superfamily_Kinase-like_dom	ENSG00000114738		0.698	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAPKAPK3	HGNC	protein_coding	OTTHUMT00000346237.1	42	0.00	0	-	NM_004635		50655079	50655080	+1	no_errors	ENST00000357955	ensembl	human	known	69_37n	frame_shift_ins	36	10.00	4	INS	0.000:0.000	G
MRPL2	51069	genome.wustl.edu	37	6	43022206	43022206	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr6:43022206C>A	ENST00000388752.3	-	7	1148	c.724G>T	c.(724-726)Gca>Tca	p.A242S	CUL7_ENST00000535468.1_5'Flank|CUL7_ENST00000265348.3_5'Flank|MRPL2_ENST00000489623.1_Missense_Mutation_p.S95I|MRPL2_ENST00000230413.5_Missense_Mutation_p.S217I	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	242					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.A242S(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		CCTACTGTTGCTACGCACGTT	0.542																																						dbGAP											1	Substitution - Missense(1)	breast(1)											72.0	56.0	62.0					6																	43022206		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"""Mitochondrial ribosomal proteins / large subunits"""	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.724G>T	6.37:g.43022206C>A	ENSP00000373404:p.Ala242Ser		B2RC56|Q8WUL1|Q96Q56|Q9Y311	Missense_Mutation	SNP	pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like	p.A242S	ENST00000388752.3	37	c.724	CCDS34454.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.86|16.86	3.238371|3.238371	0.58886|0.58886	.|.	.|.	ENSG00000112651|ENSG00000112651	ENST00000388752|ENST00000230413;ENST00000489623	T|.	0.62639|.	0.01|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);Ribosomal protein L2, C-terminal (1);|.	0.056145|.	0.64402|.	D|.	0.000001|.	D|D	0.85613|0.85613	0.5737|0.5737	H|H	0.95365|0.95365	3.66|3.66	0.80722|0.80722	D|D	1|1	P|.	0.46327|.	0.876|.	P|.	0.58266|.	0.836|.	D|D	0.87818|0.87818	0.2636|0.2636	10|6	0.87932|0.46703	D|T	0|0.11	-13.89|-13.89	17.7899|17.7899	0.88548|0.88548	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	242|.	Q5T653|.	RM02_HUMAN|.	S|I	242|217;95	ENSP00000373404:A242S|.	ENSP00000373404:A242S|ENSP00000230413:S217I	A|S	-|-	1|2	0|0	MRPL2|MRPL2	43130184|43130184	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.966000|0.966000	0.64601|0.64601	7.316000|7.316000	0.79007|0.79007	2.626000|2.626000	0.88956|0.88956	0.563000|0.563000	0.77884|0.77884	GCA|AGC	MRPL2	-	pfam_Ribosomal_L2_C,superfamily_Translation_prot_SH3-like	ENSG00000112651		0.542	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL2	HGNC	protein_coding	OTTHUMT00000040577.2	44	0.00	0	C			43022206	43022206	-1	no_errors	ENST00000388752	ensembl	human	known	69_37n	missense	33	46.77	29	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	92	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	111	29.30	46	SNP	1.000	G
MUC4	4585	genome.wustl.edu	37	3	195508115	195508115	+	Missense_Mutation	SNP	T	T	G	rs77145082	byFrequency	TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr3:195508115T>G	ENST00000463781.3	-	2	10795	c.10336A>C	c.(10336-10338)Act>Cct	p.T3446P	MUC4_ENST00000475231.1_Missense_Mutation_p.T3446P|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGTGCTGGTGACA	0.597													.|||	46	0.0091853	0.0015	0.0014	5008	,	,		20035	0.001		0.002	False		,,,				2504	0.0409					dbGAP											0													27.0	23.0	24.0					3																	195508115		684	1577	2261	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10336A>C	3.37:g.195508115T>G	ENSP00000417498:p.Thr3446Pro		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.T3446P	ENST00000463781.3	37	c.10336	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	t	3.677	-0.066237	0.07273	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37915	1.17;1.23	0.743	-1.49	0.08718	.	.	.	.	.	T	0.19167	0.0460	N	0.03608	-0.345	0.09310	N	1	D	0.57257	0.979	P	0.51487	0.671	T	0.37314	-0.9711	8	.	.	.	.	3.3392	0.07113	0.0:0.4056:0.2303:0.3641	.	3318	E7ESK3	.	P	3446	ENSP00000417498:T3446P;ENSP00000420243:T3446P	.	T	-	1	0	MUC4	196992894	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.063000	0.14410	-4.128000	0.00071	-4.106000	0.00011	ACT	MUC4	-	NULL	ENSG00000145113		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	12	0.00	0	T	NM_018406		195508115	195508115	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	16	22.73	5	SNP	0.077	G
RYR2	6262	genome.wustl.edu	37	1	237955580	237955580	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr1:237955580C>T	ENST00000366574.2	+	94	14056	c.13739C>T	c.(13738-13740)aCg>aTg	p.T4580M	RYR2_ENST00000542537.1_Missense_Mutation_p.T4564M|RYR2_ENST00000360064.6_Missense_Mutation_p.T4586M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4580					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.T4578M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTCTGCACACGGTCATTTCT	0.473																																						dbGAP											1	Substitution - Missense(1)	breast(1)											68.0	74.0	72.0					1																	237955580		2062	4189	6251	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13739C>T	1.37:g.237955580C>T	ENSP00000355533:p.Thr4580Met		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.T4586M	ENST00000366574.2	37	c.13757	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550742	0.86127	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.94966	-3.57;-3.57;-3.57	5.49	5.49	0.81192	Ryanodine Receptor TM 4-6 (1);	0.000000	0.64402	U	0.000011	D	0.96864	0.8976	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.982;1.0	P;D	0.87578	0.891;0.998	D	0.97081	0.9784	10	0.87932	D	0	-16.0107	19.7468	0.96255	0.0:1.0:0.0:0.0	.	13;4580	F5H3C7;Q92736	.;RYR2_HUMAN	M	4580;4586;4564;13	ENSP00000355533:T4580M;ENSP00000353174:T4586M;ENSP00000443798:T4564M	ENSP00000353174:T4586M	T	+	2	0	RYR2	236022203	1.000000	0.71417	0.963000	0.40424	0.711000	0.40976	7.773000	0.85462	2.731000	0.93534	0.650000	0.86243	ACG	RYR2	-	pfam_Ryanrecept_TM4-6	ENSG00000198626		0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	80	0.00	0	C	NM_001035		237955580	237955580	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	99	20.16	25	SNP	1.000	T
SHANK2	22941	genome.wustl.edu	37	11	70332515	70332515	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr11:70332515T>C	ENST00000423696.2	-	15	2782	c.2746A>G	c.(2746-2748)Aag>Gag	p.K916E	SHANK2_ENST00000409161.1_Missense_Mutation_p.K699E|SHANK2_ENST00000338508.4_Missense_Mutation_p.K1296E|SHANK2_ENST00000449833.2_Missense_Mutation_p.K700E			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	916					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.K1296E(1)|p.K700E(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATGTTCTTCTTGTCATCGCCT	0.617																																						dbGAP											2	Substitution - Missense(2)	breast(2)											127.0	117.0	120.0					11																	70332515		2200	4294	6494	-	-	-	SO:0001583	missense	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2746A>G	11.37:g.70332515T>C	ENSP00000394536:p.Lys916Glu		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.K1296E	ENST00000423696.2	37	c.3886		11	.	.	.	.	.	.	.	.	.	.	T	12.18	1.860200	0.32884	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53	5.19	2.72	0.32119	.	0.605830	0.19101	N	0.122689	T	0.55955	0.1953	M	0.79475	2.455	0.80722	D	1	B;P;B	0.39903	0.258;0.694;0.374	B;B;B	0.43783	0.195;0.431;0.147	T	0.53528	-0.8426	10	0.56958	D	0.05	.	7.8887	0.29665	0.0:0.0725:0.1375:0.79	.	916;1295;700	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	E	700;699;574;1296;916;934;919	ENSP00000399423:K700E;ENSP00000386491:K699E;ENSP00000402944:K574E;ENSP00000345193:K1296E;ENSP00000394536:K916E;ENSP00000294018:K919E	ENSP00000294018:K919E	K	-	1	0	SHANK2	70010163	1.000000	0.71417	0.965000	0.40720	0.949000	0.60115	2.963000	0.49184	0.245000	0.21373	0.459000	0.35465	AAG	SHANK2	-	NULL	ENSG00000162105		0.617	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		51	0.00	0	T	NM_012309		70332515	70332515	-1	no_errors	ENST00000338508	ensembl	human	known	69_37n	missense	301	11.21	38	SNP	1.000	C
SORCS1	114815	genome.wustl.edu	37	10	108337210	108337210	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr10:108337210G>A	ENST00000263054.6	-	26	3482	c.3475C>T	c.(3475-3477)Cgg>Tgg	p.R1159W	SORCS1_ENST00000369698.1_3'UTR|SORCS1_ENST00000344440.6_Intron	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1159					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.R1159W(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCAGATCCCCGCTTTGGCGTT	0.522																																						dbGAP											1	Substitution - Missense(1)	breast(1)											115.0	113.0	114.0					10																	108337210		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3475C>T	10.37:g.108337210G>A	ENSP00000263054:p.Arg1159Trp		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.R1159W	ENST00000263054.6	37	c.3475	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212592	0.58452	.	.	ENSG00000108018	ENST00000263054	T	0.17213	2.29	5.47	4.56	0.56223	.	.	.	.	.	T	0.10508	0.0257	N	0.22421	0.69	0.80722	D	1	D	0.57571	0.98	B	0.41271	0.352	T	0.03148	-1.1067	8	.	.	.	.	8.3539	0.32318	0.0813:0.0:0.7522:0.1664	.	1159	Q8WY21	SORC1_HUMAN	W	1159	ENSP00000263054:R1159W	.	R	-	1	2	SORCS1	108327200	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.863000	0.48396	2.736000	0.93811	0.305000	0.20034	CGG	SORCS1	-	NULL	ENSG00000108018		0.522	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	222	0.00	0	G	NM_052918		108337210	108337210	-1	no_errors	ENST00000263054	ensembl	human	known	69_37n	missense	176	30.86	79	SNP	1.000	A
TRIM64B	642446	genome.wustl.edu	37	11	89609144	89609144	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr11:89609144A>C	ENST00000329862.6	-	1	41	c.42T>G	c.(40-42)atT>atG	p.I14M		NM_001136486.1|NM_001164397.1	NP_001129958.1|NP_001157869.1	A6NI03	TR64B_HUMAN	tripartite motif containing 64B	14						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.I14M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)	2						AAATGCAGCAAATGAGCTCAT	0.423																																						dbGAP											1	Substitution - Missense(1)	breast(1)											18.0	13.0	14.0					11																	89609144		690	1559	2249	-	-	-	SO:0001583	missense	0				CCDS53693.1	11q14.3	2014-04-02	2011-01-25		ENSG00000189253	ENSG00000189253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	37147	protein-coding gene	gene with protein product			"""tripartite motif-containing 64B"""				Standard	NM_001164397		Approved		uc021qoo.1	A6NI03	OTTHUMG00000167638	ENST00000329862.6:c.42T>G	11.37:g.89609144A>C	ENSP00000332969:p.Ile14Met			Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.I14M	ENST00000329862.6	37	c.42	CCDS53693.1	11	.	.	.	.	.	.	.	.	.	.	.	8.776	0.927131	0.18056	.	.	ENSG00000189253	ENST00000329862	T	0.18174	2.23	2.06	-1.67	0.08238	.	.	.	.	.	T	0.07818	0.0196	N	0.20328	0.56	0.09310	N	1	.	.	.	.	.	.	T	0.36261	-0.9755	6	.	.	.	.	0.2034	0.00147	0.3152:0.2074:0.2675:0.2098	.	.	.	.	M	14	ENSP00000332969:I14M	.	I	-	3	3	TRIM64B	89248792	0.000000	0.05858	0.001000	0.08648	0.387000	0.30353	-1.275000	0.02817	-0.215000	0.10063	-0.570000	0.04155	ATT	TRIM64B	-	NULL	ENSG00000189253		0.423	TRIM64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM64B	HGNC	protein_coding	OTTHUMT00000395440.1	104	0.00	0	A			89609144	89609144	-1	no_errors	ENST00000329862	ensembl	human	known	69_37n	missense	92	25.81	32	SNP	0.100	C
UBR5	51366	genome.wustl.edu	37	8	103298799	103298799	+	Silent	SNP	C	C	A			TCGA-BH-A0BD-01A-11W-A050-09	TCGA-BH-A0BD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	eba2178f-6235-49c1-a49e-98de8ffdc6a0	0558481f-51c7-4181-9032-e02c3e8e265d	g.chr8:103298799C>A	ENST00000520539.1	-	38	5610	c.5004G>T	c.(5002-5004)tcG>tcT	p.S1668S	UBR5_ENST00000521922.1_Silent_p.S1662S|UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Silent_p.S1668S	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1668					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.S1668S(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTGAGTCATTCGATTGAGAAT	0.338																																					Ovarian(131;96 1741 5634 7352 27489)	dbGAP											1	Substitution - coding silent(1)	breast(1)											104.0	95.0	98.0					8																	103298799		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5004G>T	8.37:g.103298799C>A			B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.S1668	ENST00000520539.1	37	c.5004	CCDS34933.1	8																																																																																			UBR5	-	NULL	ENSG00000104517		0.338	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	220	0.90	2	C	NM_015902		103298799	103298799	-1	no_errors	ENST00000520539	ensembl	human	known	69_37n	silent	169	43.33	130	SNP	0.976	A
