#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
ANKAR	150709	genome.wustl.edu	37	2	190560903	190560903	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr2:190560903G>C	ENST00000520309.1	+	7	1604	c.1516G>C	c.(1516-1518)Gtt>Ctt	p.V506L	ANKAR_ENST00000313581.4_Missense_Mutation_p.V506L|ANKAR_ENST00000281412.6_Missense_Mutation_p.V270L|ANKAR_ENST00000438402.2_Missense_Mutation_p.V506L|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.V435L	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	506						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GAAGTCCGCTGTTGAAAGAGG	0.348																																						dbGAP											0													113.0	112.0	113.0					2																	190560903		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1516G>C	2.37:g.190560903G>C	ENSP00000427882:p.Val506Leu		Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo	p.V506L	ENST00000520309.1	37	c.1516	CCDS33351.2	2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509575	0.85282	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.14	5.14	0.70334	.	0.352327	0.20956	N	0.082648	T	0.60431	0.2268	L	0.44542	1.39	0.35135	D	0.768346	.	.	.	.	.	.	T	0.70706	-0.4798	8	0.62326	D	0.03	-17.695	17.3617	0.87353	0.0:0.0:1.0:0.0	.	.	.	.	L	506;506;506;435;270	ENSP00000427882:V506L;ENSP00000313513:V506L;ENSP00000397243:V506L;ENSP00000393043:V435L;ENSP00000281412:V270L	ENSP00000281412:V270L	V	+	1	0	ANKAR	190269148	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.690000	0.74567	2.392000	0.81423	0.460000	0.39030	GTT	ANKAR	-	NULL	ENSG00000151687		0.348	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKAR	HGNC	protein_coding	OTTHUMT00000335045.3	99	0.00	0	G	NM_144708		190560903	190560903	+1	no_errors	ENST00000313581	ensembl	human	known	69_37n	missense	24	48.94	23	SNP	1.000	C
ATP2A2	488	genome.wustl.edu	37	12	110778619	110778619	+	Silent	SNP	C	C	T			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr12:110778619C>T	ENST00000539276.2	+	14	2026	c.1917C>T	c.(1915-1917)ggC>ggT	p.G639G	ATP2A2_ENST00000395494.2_Silent_p.G612G|ATP2A2_ENST00000308664.6_Silent_p.G639G			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	639					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GCCGCATCGGCATCTTCGGGC	0.617																																						dbGAP											0													78.0	72.0	74.0					12																	110778619		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1917C>T	12.37:g.110778619C>T			A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.H530Y	ENST00000539276.2	37	c.1588	CCDS9144.1	12	.	.	.	.	.	.	.	.	.	.	C	9.761	1.169988	0.21621	.	.	ENSG00000174437	ENST00000548169	.	.	.	5.81	3.99	0.46301	.	.	.	.	.	T	0.54464	0.1860	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52019	-0.8631	4	.	.	.	.	5.4661	0.16644	0.0:0.584:0.1446:0.2714	.	.	.	.	Y	530	.	.	H	+	1	0	ATP2A2	109263002	0.982000	0.34865	1.000000	0.80357	0.995000	0.86356	0.240000	0.18042	1.456000	0.47831	0.655000	0.94253	CAT	ATP2A2	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp	ENSG00000174437		0.617	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	HGNC	protein_coding	OTTHUMT00000403539.1	38	0.00	0	C	NM_001681		110778619	110778619	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000548169	ensembl	human	novel	69_37n	missense	50	35.06	27	SNP	1.000	T
C9orf64	84267	genome.wustl.edu	37	9	86571300	86571300	+	Missense_Mutation	SNP	G	G	T	rs571879459		TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr9:86571300G>T	ENST00000376344.3	-	1	332	c.116C>A	c.(115-117)gCg>gAg	p.A39E	C9orf64_ENST00000376340.2_5'Flank|C9orf64_ENST00000314700.1_Intron	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	39										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TGGCCCCGCCGCCTTGGCCAG	0.612																																						dbGAP											0													37.0	42.0	40.0					9																	86571300		1995	4184	6179	-	-	-	SO:0001583	missense	0			AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.116C>A	9.37:g.86571300G>T	ENSP00000365522:p.Ala39Glu		B2RPI6|Q8N2B1|Q9BT18	Missense_Mutation	SNP	pfam_DUF2419	p.A39E	ENST00000376344.3	37	c.116	CCDS6666.2	9	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313626	0.40996	.	.	ENSG00000165118	ENST00000376344	.	.	.	4.59	0.326	0.15908	.	0.593501	0.17244	N	0.181418	T	0.27313	0.0670	L	0.48642	1.525	0.19300	N	0.999972	B	0.32160	0.358	B	0.25614	0.062	T	0.10042	-1.0647	9	0.35671	T	0.21	-3.7391	5.0347	0.14428	0.4411:0.1505:0.4084:0.0	.	39	Q5T6V5	CI064_HUMAN	E	39	.	ENSP00000365522:A39E	A	-	2	0	C9orf64	85761120	0.000000	0.05858	0.003000	0.11579	0.787000	0.44495	-0.142000	0.10311	0.478000	0.27488	0.462000	0.41574	GCG	C9orf64	-	NULL	ENSG00000165118		0.612	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf64	HGNC	protein_coding	OTTHUMT00000052865.1	25	0.00	0	G	NM_032307		86571300	86571300	-1	no_errors	ENST00000376344	ensembl	human	known	69_37n	missense	41	41.43	29	SNP	0.001	T
CACNA1C	775	genome.wustl.edu	37	12	2714315	2714315	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr12:2714315A>G	ENST00000347598.4	+	24	3089	c.3089A>G	c.(3088-3090)aAc>aGc	p.N1030S	CACNA1C_ENST00000399606.1_Missense_Mutation_p.N1030S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.N1010S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.N1010S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.N1010S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.N1010S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.N1010S|CACNA1C_ENST00000480911.1_Missense_Mutation_p.N1010S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.N1010S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.N1010S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.N1010S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.N1010S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.N1010S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.N1010S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.N1010S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.N1010S|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000344100.3_Missense_Mutation_p.N1010S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.N1010S|CACNA1C_ENST00000399655.1_Missense_Mutation_p.N1010S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.N1010S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.N1010S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.N1010S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.N1035S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1030					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGGCCATCAACAGGGCCAAG	0.592																																						dbGAP											0													50.0	50.0	50.0					12																	2714315		1923	4129	6052	-	-	-	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3089A>G	12.37:g.2714315A>G	ENSP00000266376:p.Asn1030Ser		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.N1010S	ENST00000347598.4	37	c.3029	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	A	22.1	4.245833	0.80024	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75	4.45	4.45	0.53987	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	L	0.41415	1.275	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.996;0.999;1.0;0.993;0.999;0.999;0.998;1.0;1.0;0.999;0.998;0.83;0.998;0.999;0.999;0.99;1.0;0.999;0.998;0.99;0.999;0.999;0.999;0.974;0.999	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.99;0.994;0.992;0.99;0.994;0.994;0.995;0.994;0.999;0.994;0.987;0.821;0.995;0.992;0.997;0.979;0.991;0.994;0.95;0.979;0.994;0.994;0.991;0.969;0.99	D	0.98660	1.0683	10	0.87932	D	0	.	14.175	0.65534	1.0:0.0:0.0:0.0	.	1010;1007;1030;1010;1010;1010;1010;1010;1010;1030;1010;981;1030;1010;1010;1010;1010;1010;1010;1010;1010;1010;1010;1010;1010	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	1035;1010;1010;1010;1010;1010;1010;1010;1010;1010;1030;1030;1010;1010;1010;1010;1010;1010;1010;1010;1010;1010;1010;851	ENSP00000336982:N1035S;ENSP00000382563:N1010S;ENSP00000437936:N1010S;ENSP00000382552:N1010S;ENSP00000382547:N1010S;ENSP00000382506:N1010S;ENSP00000382530:N1010S;ENSP00000382546:N1010S;ENSP00000382500:N1010S;ENSP00000382549:N1010S;ENSP00000266376:N1030S;ENSP00000382515:N1030S;ENSP00000382510:N1010S;ENSP00000341092:N1010S;ENSP00000382537:N1010S;ENSP00000329877:N1010S;ENSP00000382557:N1010S;ENSP00000385724:N1010S;ENSP00000382512:N1010S;ENSP00000382542:N1010S;ENSP00000382526:N1010S;ENSP00000385896:N1010S;ENSP00000382504:N1010S	ENSP00000323129:N851S	N	+	2	0	CACNA1C	2584576	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.139000	0.94554	1.987000	0.57996	0.459000	0.35465	AAC	CACNA1C	-	pfam_Ion_trans_dom	ENSG00000151067		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	32	0.00	0	A	NM_000719		2714315	2714315	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	missense	63	10.00	7	SNP	1.000	G
CASP10	843	genome.wustl.edu	37	2	202093774	202093774	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr2:202093774delC	ENST00000272879.5	+	10	1718	c.1534delC	c.(1534-1536)cccfs	p.P513fs	CASP10_ENST00000448480.1_Frame_Shift_Del_p.P470fs	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	513					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GACACCTCGACCCCCCATGCG	0.572																																						dbGAP											0													146.0	131.0	136.0					2																	202093774		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1534delC	2.37:g.202093774delC	ENSP00000272879:p.Pro513fs		Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Frame_Shift_Del	DEL	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.M514fs	ENST00000272879.5	37	c.1534	CCDS2338.1	2																																																																																			CASP10	-	smart_Pept_C14_p45_core	ENSG00000003400		0.572	CASP10-002	KNOWN	basic|CCDS	protein_coding	CASP10	HGNC	protein_coding	OTTHUMT00000256273.1	42	0.00	0	C	NM_032977		202093774	202093774	+1	no_errors	ENST00000272879	ensembl	human	known	69_37n	frame_shift_del	61	29.07	25	DEL	0.000	-
CCDC144A	9720	genome.wustl.edu	37	17	16593944	16593944	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr17:16593944G>A	ENST00000360524.8	+	1	306	c.230G>A	c.(229-231)cGc>cAc	p.R77H	CCDC144A_ENST00000399273.1_Missense_Mutation_p.R77H|CCDC144A_ENST00000340621.5_Missense_Mutation_p.R77H|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.R77H|CCDC144A_ENST00000443444.2_Missense_Mutation_p.R77H|CCDC144A_ENST00000456009.1_Missense_Mutation_p.R77H|CCDC144A_ENST00000436374.1_3'UTR|RNU6-405P_ENST00000516637.1_RNA	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	77																	CACGACGTCCGCCTGGAAGAT	0.647																																						dbGAP											0													78.0	87.0	84.0					17																	16593944		2203	4296	6499	-	-	-	SO:0001583	missense	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.230G>A	17.37:g.16593944G>A	ENSP00000353717:p.Arg77His		O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.R77H	ENST00000360524.8	37	c.230	CCDS45621.1	17	.	.	.	.	.	.	.	.	.	.	.	3.143	-0.175921	0.06421	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000436374;ENST00000399264;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14	0.311	-0.622	0.11560	.	.	.	.	.	T	0.04815	0.0130	N	0.03608	-0.345	0.09310	N	1	P	0.46457	0.878	B	0.24006	0.05	T	0.32348	-0.9910	8	0.30078	T	0.28	.	.	.	.	.	77	A2RUR9	C144A_HUMAN	H	77	ENSP00000344740:R77H;ENSP00000382215:R77H;ENSP00000439262:R77H;ENSP00000440655:R77H;ENSP00000353717:R77H;ENSP00000394201:R77H;ENSP00000353685:R77H	ENSP00000344740:R77H	R	+	2	0	CCDC144A	16534669	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	-0.728000	0.04925	-0.522000	0.06417	-0.523000	0.04350	CGC	CCDC144A	-	NULL	ENSG00000170160		0.647	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	17	0.00	0	G			16593944	16593944	+1	no_errors	ENST00000360524	ensembl	human	known	69_37n	missense	17	67.92	36	SNP	0.000	A
COL19A1	1310	genome.wustl.edu	37	6	70733563	70733563	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr6:70733563T>G	ENST00000322773.4	+	12	1173	c.1071T>G	c.(1069-1071)aaT>aaG	p.N357K		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	357	Collagen-like 2.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTGGCCTTAATGGAGAAAATG	0.333																																						dbGAP											0													94.0	92.0	93.0					6																	70733563		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1071T>G	6.37:g.70733563T>G	ENSP00000316030:p.Asn357Lys		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.N357K	ENST00000322773.4	37	c.1071	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	T	11.42	1.633826	0.29068	.	.	ENSG00000082293	ENST00000322773	D	0.93488	-3.23	5.5	1.7	0.24286	.	0.270493	0.35179	N	0.003390	T	0.58652	0.2137	N	0.02391	-0.57	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.58183	-0.7681	10	0.02654	T	1	.	6.1111	0.20102	0.0:0.1447:0.1368:0.7184	.	357	Q14993	COJA1_HUMAN	K	357	ENSP00000316030:N357K	ENSP00000316030:N357K	N	+	3	2	COL19A1	70790284	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	1.205000	0.32308	0.057000	0.16193	0.533000	0.62120	AAT	COL19A1	-	pfam_Collagen	ENSG00000082293		0.333	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	265	0.00	0	T			70733563	70733563	+1	no_errors	ENST00000322773	ensembl	human	known	69_37n	missense	98	42.01	71	SNP	0.994	G
CTNNBL1	56259	genome.wustl.edu	37	20	36488710	36488710	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr20:36488710G>A	ENST00000361383.6	+	15	1684	c.1567G>A	c.(1567-1569)Gga>Aga	p.G523R	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000405275.2_Missense_Mutation_p.G496R|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.G271R|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.G336R	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	523					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AAACATGCGAGGAAGCTCCAT	0.443																																					Ovarian(184;582 2038 3273 4106 42608)	dbGAP											0													196.0	171.0	179.0					20																	36488710		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1567G>A	20.37:g.36488710G>A	ENSP00000355050:p.Gly523Arg		B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	pfam_DUF1716_euk,superfamily_ARM-type_fold	p.G496R	ENST00000361383.6	37	c.1486	CCDS13298.1	20	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801301	0.70567	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	T;T;T;T	0.44881	0.91;0.91;0.92;0.91	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.41650	0.1168	L	0.41027	1.25	0.80722	D	1	B;P	0.45474	0.224;0.859	B;P	0.44623	0.179;0.455	T	0.13415	-1.0510	10	0.29301	T	0.29	-18.1222	18.0467	0.89335	0.0:0.0:1.0:0.0	.	523;336	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	R	523;496;336;271	ENSP00000355050:G523R;ENSP00000384355:G496R;ENSP00000362572:G336R;ENSP00000362568:G271R	ENSP00000355050:G523R	G	+	1	0	CTNNBL1	35922124	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.375000	0.97178	2.488000	0.83962	0.655000	0.94253	GGA	CTNNBL1	-	NULL	ENSG00000132792		0.443	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CTNNBL1	HGNC	protein_coding	OTTHUMT00000079125.1	137	0.00	0	G	NM_030877		36488710	36488710	+1	no_errors	ENST00000405275	ensembl	human	known	69_37n	missense	278	24.73	92	SNP	1.000	A
DAG1	1605	genome.wustl.edu	37	3	49568483	49568483	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr3:49568483C>T	ENST00000539901.1	+	3	1097	c.539C>T	c.(538-540)tCt>tTt	p.S180F	DAG1_ENST00000545947.1_Missense_Mutation_p.S180F|DAG1_ENST00000538711.1_Missense_Mutation_p.S180F|DAG1_ENST00000515359.2_Missense_Mutation_p.S180F|DAG1_ENST00000541308.1_Missense_Mutation_p.S180F|DAG1_ENST00000308775.2_Missense_Mutation_p.S180F	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	180	O-glycosylated at one site.|Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GTGGTATCATCTGCCTGTGCT	0.557																																						dbGAP											0													75.0	69.0	71.0					3																	49568483		2203	4300	6503	-	-	-	SO:0001583	missense	0			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.539C>T	3.37:g.49568483C>T	ENSP00000439334:p.Ser180Phe		A8K6M7|Q969J9	Missense_Mutation	SNP	pfam_DAG1,superfamily_Cadherin-like,smart_Cadg	p.S180F	ENST00000539901.1	37	c.539	CCDS2799.1	3	.	.	.	.	.	.	.	.	.	.	C	9.696	1.153102	0.21371	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.92	3.91	0.45181	.	0.208186	0.51477	D	0.000099	T	0.09247	0.0228	N	0.00289	-1.7	0.36490	D	0.868376	B	0.02656	0.0	B	0.01281	0.0	T	0.10730	-1.0617	9	.	.	.	-11.9866	4.8676	0.13616	0.0:0.6182:0.0:0.3818	.	180	Q14118	DAG1_HUMAN	F	180	ENSP00000440705:S180F;ENSP00000312435:S180F;ENSP00000442600:S180F;ENSP00000440590:S180F;ENSP00000439334:S180F;ENSP00000438421:S180F	.	S	+	2	0	DAG1	49543487	0.999000	0.42202	0.912000	0.35992	0.861000	0.49209	2.905000	0.48727	1.513000	0.48852	0.655000	0.94253	TCT	DAG1	-	NULL	ENSG00000173402		0.557	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	DAG1	HGNC	protein_coding	OTTHUMT00000346326.1	34	0.00	0	C			49568483	49568483	+1	no_errors	ENST00000308775	ensembl	human	known	69_37n	missense	42	38.24	26	SNP	0.999	T
DENND1B	163486	genome.wustl.edu	37	1	197480062	197480063	+	IGR	INS	-	-	T			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr1:197480062_197480063insT								CRB1 (32477 upstream) : DENND1B (41321 downstream)																							ACCACCACAGAGGAAAGCCAGG	0.421																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															1.37:g.197480062_197480063insT				Frame_Shift_Ins	INS	NULL	p.L259fs		37	c.776_775		1																																																																																			DENND1B	-	NULL	ENSG00000213047	0	0.421					DENND1B	HGNC			33	0.00	0	-			197480062	197480063	-1	no_start_codon	ENST00000391979	ensembl	human	putative	69_37n	frame_shift_ins	3	50.00	3	INS	0.074:0.068	T
DQX1	165545	genome.wustl.edu	37	2	74746321	74746321	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr2:74746321G>T	ENST00000404568.3	-	11	2062	c.1843C>A	c.(1843-1845)Ctc>Atc	p.L615I	DQX1_ENST00000393951.2_Missense_Mutation_p.L615I	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	615						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TGGGTTAGGAGAAGGTAATTT	0.493																																						dbGAP											0													88.0	93.0	91.0					2																	74746321		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1843C>A	2.37:g.74746321G>T	ENSP00000384621:p.Leu615Ile		Q6B017|Q8NAM8	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.L615I	ENST00000404568.3	37	c.1843	CCDS1949.2	2	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294719	0.40594	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.02890	4.12;4.12	5.44	4.55	0.56014	Domain of unknown function DUF1605 (1);	0.000000	0.52532	D	0.000062	T	0.01661	0.0053	N	0.03948	-0.315	0.34694	D	0.726025	P	0.38420	0.63	B	0.34873	0.191	T	0.57219	-0.7849	10	0.54805	T	0.06	-20.8021	11.2519	0.49031	0.0:0.0:0.6677:0.3323	.	615	Q8TE96	DQX1_HUMAN	I	615	ENSP00000377523:L615I;ENSP00000384621:L615I	ENSP00000377523:L615I	L	-	1	0	DQX1	74599829	1.000000	0.71417	0.893000	0.35052	0.699000	0.40488	3.152000	0.50677	1.268000	0.44264	0.655000	0.94253	CTC	DQX1	-	pfam_DUF1605	ENSG00000144045		0.493	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DQX1	HGNC	protein_coding	OTTHUMT00000252230.3	64	0.00	0	G	NM_133637		74746321	74746321	-1	no_errors	ENST00000393951	ensembl	human	known	69_37n	missense	92	44.24	73	SNP	0.932	T
ETV3	2117	genome.wustl.edu	37	1	157105452	157105452	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr1:157105452G>A	ENST00000368192.4	-	3	159	c.95C>T	c.(94-96)tCc>tTc	p.S32F	ETV3_ENST00000326786.4_Missense_Mutation_p.S32F|ETV3_ENST00000460850.1_5'UTR	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	32					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				GATCTGCCGGGAGCCTGGGGA	0.517																																						dbGAP											0													101.0	98.0	99.0					1																	157105452		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.95C>T	1.37:g.157105452G>A	ENSP00000357175:p.Ser32Phe		B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.S32F	ENST00000368192.4	37	c.95	CCDS44250.1	1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.798222	0.70567	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	T;T	0.20463	2.21;2.07	5.32	5.32	0.75619	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.27063	0.0663	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.77557	0.986;0.99	T	0.07102	-1.0790	10	0.87932	D	0	.	18.1187	0.89564	0.0:0.0:1.0:0.0	.	32;32	P41162-2;P41162	.;ETV3_HUMAN	F	32	ENSP00000357175:S32F;ENSP00000327316:S32F	ENSP00000327316:S32F	S	-	2	0	ETV3	155372076	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.759000	0.85235	2.647000	0.89833	0.655000	0.94253	TCC	ETV3	-	NULL	ENSG00000117036		0.517	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3	HGNC	protein_coding	OTTHUMT00000082843.2	93	0.00	0	G	NM_005240		157105452	157105452	-1	no_errors	ENST00000368192	ensembl	human	known	69_37n	missense	131	41.26	92	SNP	1.000	A
AMER1	139285	genome.wustl.edu	37	X	63411643	63411643	+	Silent	SNP	G	G	A			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chrX:63411643G>A	ENST00000330258.3	-	2	1796	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	AMER1_ENST00000374869.3_Silent_p.F508F|AMER1_ENST00000403336.1_Silent_p.F508F	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	508					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTGGCTCATAGAACTCATATA	0.517																																						dbGAP											67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											49.0	45.0	47.0					X																	63411643		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1524C>T	X.37:g.63411643G>A			A2IB86|Q8N885	Silent	SNP	pfam_Uncharacterised_FAM123	p.F508	ENST00000330258.3	37	c.1524	CCDS14377.2	X																																																																																			FAM123B	-	pfam_Uncharacterised_FAM123	ENSG00000184675		0.517	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	53	0.00	0	G	NM_152424		63411643	63411643	-1	no_errors	ENST00000330258	ensembl	human	known	69_37n	silent	46	36.99	27	SNP	1.000	A
FAM189A2	9413	genome.wustl.edu	37	9	71998865	71998865	+	Silent	SNP	A	A	T			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr9:71998865A>T	ENST00000257515.8	+	8	1047	c.627A>T	c.(625-627)ggA>ggT	p.G209G	FAM189A2_ENST00000455972.1_Silent_p.G209G|FAM189A2_ENST00000303068.7_Silent_p.G44G	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	209						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TGATGCAGGGATCTTCATTCC	0.443																																						dbGAP											0													71.0	71.0	71.0					9																	71998865		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"""chromosome 9 open reading frame 61"""	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.627A>T	9.37:g.71998865A>T			Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Silent	SNP	pfam_CD20-like	p.G209	ENST00000257515.8	37	c.627	CCDS6629.1	9																																																																																			FAM189A2	-	NULL	ENSG00000135063		0.443	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A2	HGNC	protein_coding	OTTHUMT00000052576.2	51	0.00	0	A	NM_004816		71998865	71998865	+1	no_errors	ENST00000257515	ensembl	human	known	69_37n	silent	28	34.88	15	SNP	0.998	T
FMR1	2332	genome.wustl.edu	37	X	147024827	147024827	+	Silent	SNP	C	C	T			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chrX:147024827C>T	ENST00000370475.4	+	14	1580	c.1452C>T	c.(1450-1452)cgC>cgT	p.R484R	FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370477.1_Silent_p.R463R|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000218200.8_Silent_p.R463R|FMR1_ENST00000370470.1_Silent_p.R484R|FMR1_ENST00000440235.2_Silent_p.R131R|FMR1_ENST00000439526.2_Silent_p.R461R	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	484	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R484R(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					ACGGCAGACGCGGTCCTGGAT	0.418									Fragile X syndrome																													dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											127.0	118.0	121.0					X																	147024827		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1452C>T	X.37:g.147024827C>T			A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Silent	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet,smart_KH_dom,pfscan_KH_dom_type_1	p.R484	ENST00000370475.4	37	c.1452	CCDS14682.1	X																																																																																			FMR1	-	pfam_Frag_X_MRP_fam	ENSG00000102081		0.418	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	HGNC	protein_coding	OTTHUMT00000058655.1	83	0.00	0	C	NM_002024		147024827	147024827	+1	no_errors	ENST00000370475	ensembl	human	known	69_37n	silent	93	40.38	63	SNP	0.998	T
GABRA6	2559	genome.wustl.edu	37	5	161116329	161116329	+	Silent	SNP	C	C	T	rs139264126		TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr5:161116329C>T	ENST00000274545.5	+	5	949	c.516C>T	c.(514-516)ctC>ctT	p.L172L	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Silent_p.L162L			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	172					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTTGTCCACTCAAGTTTGGGA	0.393										TCGA Ovarian(5;0.080)																												dbGAP											0													125.0	111.0	116.0					5																	161116329		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.516C>T	5.37:g.161116329C>T			A8K096|Q4VAV2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_Neur_channel	p.S112L	ENST00000274545.5	37	c.335	CCDS4356.1	5	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532850	0.45073	.	.	ENSG00000145863	ENST00000520000	.	.	.	5.74	3.92	0.45320	.	.	.	.	.	T	0.59878	0.2226	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57447	-0.7810	4	.	.	.	.	9.8376	0.40980	0.1129:0.4057:0.4814:0.0	.	.	.	.	L	112	.	.	S	+	2	0	GABRA6	161048907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.040000	0.41203	1.414000	0.47017	0.655000	0.94253	TCA	GABRA6	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd	ENSG00000145863		0.393	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	142	0.00	0	C			161116329	161116329	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000520000	ensembl	human	putative	69_37n	missense	139	35.48	77	SNP	1.000	T
GBE1	2632	genome.wustl.edu	37	3	81627203	81627203	+	Silent	SNP	G	G	A			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr3:81627203G>A	ENST00000429644.2	-	12	2134	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	GBE1_ENST00000489715.1_Silent_p.A456A	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	497					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TATACATTTCGGCATCCATCA	0.383									Glycogen Storage Disease, type IV																													dbGAP											0													84.0	78.0	80.0					3																	81627203		1921	4129	6050	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1491C>T	3.37:g.81627203G>A			B3KWV3|Q96EN0	Silent	SNP	pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.A497	ENST00000429644.2	37	c.1491	CCDS54612.1	3																																																																																			GBE1	-	superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000114480		0.383	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	HGNC	protein_coding	OTTHUMT00000352760.2	115	0.00	0	G			81627203	81627203	-1	no_errors	ENST00000429644	ensembl	human	known	69_37n	silent	57	30.49	25	SNP	0.875	A
GOLGA7B	401647	genome.wustl.edu	37	10	99619286	99619286	+	Silent	SNP	C	C	T			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr10:99619286C>T	ENST00000370602.1	+	2	149	c.84C>T	c.(82-84)agC>agT	p.S28S		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	28						Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|prostate(1)	5						GAGACTACAGCGATGGGACCA	0.577																																						dbGAP											0													84.0	78.0	80.0					10																	99619286		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265			31668	protein-coding gene	gene with protein product		614189	"""chromosome 10 open reading frame 133"", ""chromosome 10 open reading frame 132"", ""golgi autoantigen, golgin subfamily a, 7B"""	C10orf133, C10orf132			Standard	NM_001010917		Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.84C>T	10.37:g.99619286C>T			Q5T4F5	Silent	SNP	pfam_Golgin_A_7/ERF4	p.S28	ENST00000370602.1	37	c.84	CCDS31265.1	10																																																																																			GOLGA7B	-	pfam_Golgin_A_7/ERF4	ENSG00000155265		0.577	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA7B	HGNC	protein_coding	OTTHUMT00000049752.1	32	0.00	0	C	NM_001010917		99619286	99619286	+1	no_errors	ENST00000370602	ensembl	human	known	69_37n	silent	45	47.06	40	SNP	0.992	T
GPHN	10243	genome.wustl.edu	37	14	67610087	67610087	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr14:67610087A>G	ENST00000315266.5	+	17	2779	c.1658A>G	c.(1657-1659)gAc>gGc	p.D553G	GPHN_ENST00000543237.1_Missense_Mutation_p.D599G|GPHN_ENST00000478722.1_Missense_Mutation_p.D586G|GPHN_ENST00000305960.9_Missense_Mutation_p.D522G|GPHN_ENST00000544752.2_3'UTR	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	553	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AGCCCAGATGACTTACTCAAT	0.393			T	MLL	AL																																	dbGAP		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	0													216.0	218.0	217.0					14																	67610087		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1658A>G	14.37:g.67610087A>G	ENSP00000312771:p.Asp553Gly		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	pfam_Mopterin-bd,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd,tigrfam_Mo_cofactor_synthesis	p.D586G	ENST00000315266.5	37	c.1757	CCDS32103.1	14	.	.	.	.	.	.	.	.	.	.	A	16.58	3.162297	0.57368	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960;ENST00000555503	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.9	5.9	0.94986	Molybdenum cofactor synthesis (1);Molybdopterin binding (4);	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	L	0.41079	1.255	0.80722	D	1	B;P;B;B	0.38504	0.02;0.634;0.306;0.041	B;B;B;B	0.42214	0.041;0.329;0.38;0.032	T	0.71059	-0.4702	10	0.25751	T	0.34	-8.6374	15.3058	0.73990	1.0:0.0:0.0:0.0	.	522;599;553;586	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	G	553;586;599;522;78	ENSP00000312771:D553G;ENSP00000417901:D586G;ENSP00000438404:D599G;ENSP00000303019:D522G;ENSP00000452009:D78G	ENSP00000303019:D522G	D	+	2	0	GPHN	66679840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.526000	0.90588	2.254000	0.74563	0.482000	0.46254	GAC	GPHN	-	pfam_Mopterin-bd,superfamily_Mopterin-bd,smart_Mopterin-bd,tigrfam_Mo_cofactor_synthesis	ENSG00000171723		0.393	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPHN	HGNC	protein_coding	OTTHUMT00000074299.2	555	0.18	1	A	NM_020806		67610087	67610087	+1	no_errors	ENST00000478722	ensembl	human	known	69_37n	missense	241	35.90	135	SNP	1.000	G
IFI16	3428	genome.wustl.edu	37	1	159021640	159021640	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr1:159021640G>C	ENST00000295809.7	+	10	2092	c.1837G>C	c.(1837-1839)Gtg>Ctg	p.V613L	IFI16_ENST00000448393.2_Missense_Mutation_p.V501L|IFI16_ENST00000359709.3_Missense_Mutation_p.V557L|IFI16_ENST00000340979.6_Missense_Mutation_p.V501L|IFI16_ENST00000430894.2_Missense_Mutation_p.V561L|IFI16_ENST00000368131.4_Missense_Mutation_p.V557L|IFI16_ENST00000368132.3_Missense_Mutation_p.V557L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	613	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AGTCTTCCGAGTGAAGGTTTT	0.418																																						dbGAP											0													102.0	103.0	102.0					1																	159021640		2203	4300	6503	-	-	-	SO:0001583	missense	0			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1837G>C	1.37:g.159021640G>C	ENSP00000295809:p.Val613Leu		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.V613L	ENST00000295809.7	37	c.1837		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.98|14.98	2.698174|2.698174	0.48307|0.48307	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000448393|ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.|T;T;T;T;T	.|0.26223	.|1.75;1.75;1.75;1.75;1.75	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|.	.|.	.|.	.|.	T|T	0.40040|0.40040	0.1101|0.1101	M|M	0.75447|0.75447	2.3|2.3	0.24406|0.24406	N|N	0.99468|0.99468	.|D;D;D	.|0.89917	.|0.997;1.0;0.998	.|D;D;D	.|0.79108	.|0.95;0.992;0.932	T|T	0.17077|0.17077	-1.0381|-1.0381	5|9	.|0.72032	.|D	.|0.01	.|.	13.3465|13.3465	0.60575|0.60575	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|561;501;557	.|E7EPR3;Q16666-3;Q16666-2	.|.;.;.	D|L	321|613;501;557;557;561	.|ENSP00000295809:V613L;ENSP00000342741:V501L;ENSP00000357113:V557L;ENSP00000357114:V557L;ENSP00000394935:V561L	.|ENSP00000295809:V613L	E|V	+|+	3|1	2|0	IFI16|IFI16	157288264|157288264	0.994000|0.994000	0.37717|0.37717	0.951000|0.951000	0.38953|0.38953	0.099000|0.099000	0.18886|0.18886	2.180000|2.180000	0.42537|0.42537	2.507000|2.507000	0.84556|0.84556	0.609000|0.609000	0.83330|0.83330	GAG|GTG	IFI16	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x	ENSG00000163565		0.418	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	80	0.00	0	G	NM_005531		159021640	159021640	+1	no_errors	ENST00000295809	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	0.970	C
LPHN1	22859	genome.wustl.edu	37	19	14274041	14274041	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr19:14274041T>C	ENST00000340736.6	-	6	884	c.587A>G	c.(586-588)tAc>tGc	p.Y196C	CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.Y191C	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	196	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGCGGCCACGTAGTCCTCCCA	0.637																																						dbGAP											0													88.0	67.0	74.0					19																	14274041		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.587A>G	19.37:g.14274041T>C	ENSP00000340688:p.Tyr196Cys		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.Y196C	ENST00000340736.6	37	c.587	CCDS32928.1	19	.	.	.	.	.	.	.	.	.	.	T	11.55	1.671947	0.29693	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.90069	-2.61;-2.61	5.06	4.03	0.46877	Olfactomedin-like (3);	0.071135	0.64402	D	0.000018	D	0.84442	0.5473	L	0.46157	1.445	0.43430	D	0.995592	B;B	0.14012	0.003;0.009	B;B	0.17979	0.011;0.02	T	0.79478	-0.1787	10	0.87932	D	0	.	9.378	0.38295	0.16:0.0:0.0:0.84	.	191;196	O94910-2;O94910	.;LPHN1_HUMAN	C	196;191	ENSP00000340688:Y196C;ENSP00000355328:Y191C	ENSP00000340688:Y196C	Y	-	2	0	LPHN1	14135041	0.998000	0.40836	0.996000	0.52242	0.930000	0.56654	3.205000	0.51090	0.750000	0.32877	0.533000	0.62120	TAC	LPHN1	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000072071		0.637	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	LPHN1	HGNC	protein_coding	OTTHUMT00000459696.1	15	0.00	0	T	NM_014921		14274041	14274041	-1	no_errors	ENST00000340736	ensembl	human	known	69_37n	missense	21	51.16	22	SNP	0.998	C
LRRC8A	56262	genome.wustl.edu	37	9	131670265	131670265	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr9:131670265G>C	ENST00000259324.5	+	3	1345	c.822G>C	c.(820-822)aaG>aaC	p.K274N	LRRC8A_ENST00000372599.3_Missense_Mutation_p.K274N|LRRC8A_ENST00000372600.4_Missense_Mutation_p.K274N	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	274					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGGTGATCAAGTTCATCCTCA	0.542																																						dbGAP											0													269.0	220.0	236.0					9																	131670265		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.822G>C	9.37:g.131670265G>C	ENSP00000259324:p.Lys274Asn		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.K274N	ENST00000259324.5	37	c.822	CCDS35155.1	9	.	.	.	.	.	.	.	.	.	.	G	9.904	1.207581	0.22205	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.31247	1.5;1.5;1.5	5.09	2.25	0.28309	.	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	L	0.33339	1.005	0.49213	D	0.99976	B	0.33413	0.411	B	0.24269	0.052	T	0.03750	-1.1007	10	0.51188	T	0.08	.	9.9534	0.41653	0.2246:0.0:0.7754:0.0	.	274	Q8IWT6	LRC8A_HUMAN	N	274	ENSP00000361682:K274N;ENSP00000361680:K274N;ENSP00000259324:K274N	ENSP00000259324:K274N	K	+	3	2	LRRC8A	130710086	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.940000	0.63533	0.183000	0.20059	-0.448000	0.05591	AAG	LRRC8A	-	NULL	ENSG00000136802		0.542	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2	86	0.00	0	G	NM_019594		131670265	131670265	+1	no_errors	ENST00000259324	ensembl	human	known	69_37n	missense	105	42.93	79	SNP	1.000	C
MAGEB6	158809	genome.wustl.edu	37	X	26212547	26212547	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chrX:26212547T>G	ENST00000379034.1	+	2	733	c.584T>G	c.(583-585)gTa>gGa	p.V195G		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	195	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAAGATGCTGTAAAGAAGAAG	0.468																																						dbGAP											0													75.0	64.0	68.0					X																	26212547		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.584T>G	X.37:g.26212547T>G	ENSP00000368320:p.Val195Gly		Q6GS19|Q9H219	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.V195G	ENST00000379034.1	37	c.584	CCDS14217.1	X	.	.	.	.	.	.	.	.	.	.	T	10.19	1.280699	0.23392	.	.	ENSG00000176746	ENST00000379034	T	0.01981	4.52	2.33	2.33	0.28932	.	0.645281	0.13009	U	0.421036	T	0.02083	0.0065	L	0.32530	0.975	0.09310	N	1	P	0.37176	0.586	B	0.34873	0.191	T	0.46735	-0.9170	10	0.87932	D	0	.	5.8953	0.18935	0.0:0.0:0.0:1.0	.	195	Q8N7X4	MAGB6_HUMAN	G	195	ENSP00000368320:V195G	ENSP00000368320:V195G	V	+	2	0	MAGEB6	26122468	0.003000	0.15002	0.090000	0.20809	0.001000	0.01503	2.100000	0.41777	1.179000	0.42884	0.437000	0.28790	GTA	MAGEB6	-	pfscan_MAGE	ENSG00000176746		0.468	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB6	HGNC	protein_coding	OTTHUMT00000056123.1	27	0.00	0	T	NM_173523		26212547	26212547	+1	no_errors	ENST00000379034	ensembl	human	known	69_37n	missense	31	38.00	19	SNP	0.086	G
MEN1	4221	genome.wustl.edu	37	11	64577330	64577333	+	Frame_Shift_Del	DEL	AGAC	AGAC	-	rs386134252		TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	AGAC	AGAC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr11:64577330_64577333delAGAC	ENST00000337652.1	-	2	752_755	c.249_252delGTCT	c.(247-252)ctgtctfs	p.LS83fs	MEN1_ENST00000394374.2_Frame_Shift_Del_p.LS83fs|MEN1_ENST00000312049.6_Frame_Shift_Del_p.LS83fs|MEN1_ENST00000377321.1_Frame_Shift_Del_p.LS83fs|MEN1_ENST00000377313.1_Frame_Shift_Del_p.LS83fs|MEN1_ENST00000377326.3_Frame_Shift_Del_p.LS83fs|MEN1_ENST00000315422.4_Frame_Shift_Del_p.LS83fs|MEN1_ENST00000394376.1_Frame_Shift_Del_p.LS83fs|MEN1_ENST00000443283.1_Frame_Shift_Del_p.LS83fs|MEN1_ENST00000377316.2_Frame_Shift_Del_p.LS83fs	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	83					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.I85fs*33(6)|p.I85fs*32(2)|p.L83fs*28(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CGGCGATGATAGACAGGTCGGCCA	0.672			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	dbGAP	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	9	Deletion - Frameshift(7)|Insertion - Frameshift(2)	pancreas(4)|parathyroid(2)|small_intestine(1)|NS(1)|stomach(1)	GRCh37	CD075467|CD972304|CI972638	MEN1	D|I																																				-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.249_252delGTCT	11.37:g.64577330_64577333delAGAC	ENSP00000337088:p.Leu83fs		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Frame_Shift_Del	DEL	pfam_Menin	p.I85fs	ENST00000337652.1	37	c.252_249	CCDS8083.1	11																																																																																			MEN1	-	pfam_Menin	ENSG00000133895		0.672	MEN1-201	KNOWN	basic|CCDS	protein_coding	MEN1	HGNC	protein_coding	OTTHUMT00000143881.1	23	0.00	0	AGAC			64577330	64577333	-1	no_errors	ENST00000337652	ensembl	human	known	69_37n	frame_shift_del	23	54.90	28	DEL	0.999:0.998:0.970:0.066	-
MSI2	124540	genome.wustl.edu	37	17	55478762	55478762	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr17:55478762T>A	ENST00000284073.2	+	6	544	c.335T>A	c.(334-336)aTa>aAa	p.I112K	MSI2_ENST00000322684.3_Missense_Mutation_p.I108K|MSI2_ENST00000442934.2_Missense_Mutation_p.I51K|MSI2_ENST00000579180.1_Missense_Mutation_p.I8K|MSI2_ENST00000416426.2_Missense_Mutation_p.I90K	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	112	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		ACAAAGAAAATATTTGTAGGC	0.443			T	HOXA9	CML																																	dbGAP		Dom	yes		17	17q23.2	124540	musashi homolog 2 (Drosophila)		L	0													112.0	108.0	109.0					17																	55478762		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	18585	protein-coding gene	gene with protein product		607897	"""musashi homolog 2 (Drosophila)"""			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.335T>A	17.37:g.55478762T>A	ENSP00000284073:p.Ile112Lys		Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.I112K	ENST00000284073.2	37	c.335	CCDS11596.1	17	.	.	.	.	.	.	.	.	.	.	T	27.6	4.850227	0.91277	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684;ENST00000442934	T;T;T;T	0.79033	3.03;-1.23;3.03;3.03	5.5	5.5	0.81552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.92074	0.7488	H	0.97516	4.02	0.80722	D	1	D;D;D	0.76494	0.999;0.979;0.986	D;P;P	0.68621	0.959;0.905;0.898	D	0.94793	0.7964	10	0.87932	D	0	.	15.9002	0.79369	0.0:0.0:0.0:1.0	.	90;108;112	B4DHE8;Q96DH6-2;Q96DH6	.;.;MSI2H_HUMAN	K	90;112;108;51	ENSP00000414671:I90K;ENSP00000284073:I112K;ENSP00000313616:I108K;ENSP00000392607:I51K	ENSP00000284073:I112K	I	+	2	0	MSI2	52833761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.619000	0.83057	2.219000	0.72066	0.533000	0.62120	ATA	MSI2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000153944		0.443	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSI2	HGNC	protein_coding	OTTHUMT00000441813.1	111	0.00	0	T			55478762	55478762	+1	no_errors	ENST00000284073	ensembl	human	known	69_37n	missense	237	27.30	89	SNP	1.000	A
MUC16	94025	genome.wustl.edu	37	19	8982254	8982254	+	Silent	SNP	C	C	T			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr19:8982254C>T	ENST00000397910.4	-	70	42224	c.42021G>A	c.(42019-42021)ctG>ctA	p.L14007L	MUC16_ENST00000380951.5_Silent_p.L648L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14032	SEA 13. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTGATAGGCAGACCTGGGC	0.607																																						dbGAP											0													59.0	64.0	62.0					19																	8982254		2053	4204	6257	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42021G>A	19.37:g.8982254C>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.L14007	ENST00000397910.4	37	c.42021	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	C	2.797	-0.250102	0.05867	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.89	-1.59	0.08453	.	.	.	.	.	T	0.18676	0.0448	.	.	.	.	.	.	.	.	.	.	.	.	T	0.26292	-1.0107	3	.	.	.	.	0.75	0.00989	0.1714:0.3509:0.239:0.2387	.	.	.	.	Y	847	.	.	C	-	2	0	MUC16	8843254	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.330000	0.02675	-0.131000	0.11578	-0.224000	0.12420	TGC	MUC16	-	pfam_SEA	ENSG00000181143		0.607	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	12	0.00	0	C	NM_024690		8982254	8982254	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	29	40.00	20	SNP	0.002	T
MYO1H	283446	genome.wustl.edu	37	12	109831184	109831184	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr12:109831184G>A	ENST00000431443.2	+	2	175	c.175G>A	c.(175-177)Gga>Aga	p.G59R	MYO1H_ENST00000310903.5_Missense_Mutation_p.G59R	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	59	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCAGGAGCTCGGAATCTACAC	0.463																																						dbGAP											0													103.0	98.0	100.0					12																	109831184		1905	4124	6029	-	-	-	SO:0001583	missense	0				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.175G>A	12.37:g.109831184G>A	ENSP00000444076:p.Gly59Arg		F5H3C6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.G59R	ENST00000431443.2	37	c.175		12	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026787	0.54683	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	T;T	0.72394	-0.65;-0.65	4.55	4.55	0.56014	.	.	.	.	.	T	0.70098	0.3185	L	0.55017	1.72	0.31769	N	0.632399	D	0.61080	0.989	P	0.46718	0.525	T	0.75900	-0.3154	9	0.54805	T	0.06	.	13.0568	0.58984	0.0:0.1621:0.8379:0.0	.	59	F5H3C6	.	R	59	ENSP00000439182:G59R;ENSP00000444076:G59R	ENSP00000439182:G59R	G	+	1	0	MYO1H	108315567	1.000000	0.71417	0.145000	0.22337	0.873000	0.50193	6.071000	0.71229	2.486000	0.83907	0.650000	0.86243	GGA	MYO1H	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000174527		0.463	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		142	0.00	0	G	NM_173597		109831184	109831184	+1	no_errors	ENST00000431443	ensembl	human	known	69_37n	missense	133	35.44	73	SNP	0.717	A
NCOR1	9611	genome.wustl.edu	37	17	16068397	16068397	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr17:16068397delA	ENST00000268712.3	-	5	771	c.514delT	c.(514-516)tcafs	p.S172fs	NCOR1_ENST00000395848.1_Frame_Shift_Del_p.S63fs|NCOR1_ENST00000395851.1_Frame_Shift_Del_p.S172fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	172	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTGAAGGTGAAGCATTTTGA	0.398																																						dbGAP											0													97.0	93.0	95.0					17																	16068397		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.514delT	17.37:g.16068397delA	ENSP00000268712:p.Ser172fs		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Del	DEL	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S172fs	ENST00000268712.3	37	c.514	CCDS11175.1	17																																																																																			NCOR1	-	NULL	ENSG00000141027		0.398	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	283	0.00	0	A	NM_006311		16068397	16068397	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	frame_shift_del	47	54.55	60	DEL	1.000	-
NLGN1	22871	genome.wustl.edu	37	3	173998327	173998327	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr3:173998327G>T	ENST00000457714.1	+	7	2135	c.1706G>T	c.(1705-1707)cGt>cTt	p.R569L	NLGN1_ENST00000401917.3_Missense_Mutation_p.R609L|NLGN1_ENST00000361589.4_Missense_Mutation_p.R569L|NLGN1_ENST00000545397.1_Missense_Mutation_p.R569L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	586					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AAACCCAACCGTTTTGAAGAA	0.348																																						dbGAP											0													97.0	90.0	93.0					3																	173998327		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1706G>T	3.37:g.173998327G>T	ENSP00000392500:p.Arg569Leu		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.R609L	ENST00000457714.1	37	c.1826	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538667	0.85917	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.67	5.67	0.87782	.	0.108897	0.64402	D	0.000009	T	0.62901	0.2466	L	0.45051	1.395	0.80722	D	1	P	0.47604	0.898	B	0.40038	0.317	T	0.68183	-0.5476	10	0.66056	D	0.02	.	19.7714	0.96367	0.0:0.0:1.0:0.0	.	569	Q8N2Q7-2	.	L	569;569;569;609	ENSP00000392500:R569L;ENSP00000354541:R569L;ENSP00000441108:R569L;ENSP00000385750:R609L	ENSP00000354541:R569L	R	+	2	0	NLGN1	175481021	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.666000	0.90696	0.655000	0.94253	CGT	NLGN1	-	pfam_CarbesteraseB,prints_Neuroligin	ENSG00000169760		0.348	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	94	0.00	0	G	NM_014932		173998327	173998327	+1	no_errors	ENST00000401917	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	1.000	T
OAS1	4938	genome.wustl.edu	37	12	113357242	113357242	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr12:113357242C>G	ENST00000202917.5	+	6	1350	c.1087C>G	c.(1087-1089)Cag>Gag	p.Q363E	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000551241.1_Intron|OAS1_ENST00000445409.2_Intron	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	363					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CAGGAGGTATCAGAAATATGG	0.512																																						dbGAP											0													109.0	104.0	106.0					12																	113357242		2203	4300	6503	-	-	-	SO:0001583	missense	0			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.1087C>G	12.37:g.113357242C>G	ENSP00000202917:p.Gln363Glu		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.Q363E	ENST00000202917.5	37	c.1087	CCDS41838.1	12	.	.	.	.	.	.	.	.	.	.	C	0.361	-0.939334	0.02322	.	.	ENSG00000089127	ENST00000202917	T	0.04603	3.59	1.95	-1.8	0.07907	.	.	.	.	.	T	0.02119	0.0066	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44922	-0.9296	9	0.48119	T	0.1	9.6679	0.7189	0.00937	0.2379:0.3574:0.2351:0.1696	.	363	P00973	OAS1_HUMAN	E	363	ENSP00000202917:Q363E	ENSP00000202917:Q363E	Q	+	1	0	OAS1	111841625	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.858000	0.01659	-0.497000	0.06641	0.557000	0.71058	CAG	OAS1	-	NULL	ENSG00000089127		0.512	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OAS1	HGNC	protein_coding	OTTHUMT00000405896.2	41	0.00	0	C			113357242	113357242	+1	no_errors	ENST00000202917	ensembl	human	known	69_37n	missense	16	38.46	10	SNP	0.000	G
OR4M1	441670	genome.wustl.edu	37	14	20249411	20249411	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr14:20249411T>G	ENST00000315957.4	+	1	1011	c.930T>G	c.(928-930)tgT>tgG	p.C310W		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATTTTGTGTGAAGAGAAGT	0.348																																						dbGAP											0													40.0	41.0	41.0					14																	20249411		2189	4293	6482	-	-	-	SO:0001583	missense	0				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.930T>G	14.37:g.20249411T>G	ENSP00000319654:p.Cys310Trp		B9EH18|Q6IFA3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.C310W	ENST00000315957.4	37	c.930	CCDS32021.1	14	.	.	.	.	.	.	.	.	.	.	.	10.19	1.281817	0.23392	.	.	ENSG00000176299	ENST00000315957	T	0.00005	9.79	4.27	1.77	0.24775	.	0.000000	0.53938	D	0.000048	T	0.00073	0.0002	N	0.14661	0.345	0.48762	D	0.999702	D	0.56521	0.976	P	0.49752	0.621	D	0.94251	0.7493	10	0.38643	T	0.18	-11.4827	7.4505	0.27235	0.0:0.1907:0.0:0.8093	.	310	Q8NGD0	OR4M1_HUMAN	W	310	ENSP00000319654:C310W	ENSP00000319654:C310W	C	+	3	2	OR4M1	19319251	0.313000	0.24554	0.998000	0.56505	0.466000	0.32739	-0.171000	0.09883	0.261000	0.21753	0.414000	0.27820	TGT	OR4M1	-	NULL	ENSG00000176299		0.348	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4M1	HGNC	protein_coding	OTTHUMT00000409770.1	144	0.00	0	T			20249411	20249411	+1	no_errors	ENST00000315957	ensembl	human	known	69_37n	missense	75	15.73	14	SNP	0.979	G
PDE4DIP	9659	genome.wustl.edu	37	1	145075683	145075683	+	Nonsense_Mutation	SNP	C	C	T	rs2762779	byFrequency	TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr1:145075683C>T	ENST00000530740.1	-	1	218	c.180G>A	c.(178-180)tgG>tgA	p.W60*	PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.W60*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.W60*|PDE4DIP_ENST00000369345.4_Nonsense_Mutation_p.W60*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCGCTGCTGCCCAGCTCCCGG	0.711			T	PDGFRB	MPD																																	dbGAP		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0																																										-	-	-	SO:0001587	stop_gained	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.180G>A	1.37:g.145075683C>T	ENSP00000435654:p.Trp60*		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	pfam_Spindle_assoc	p.W60*	ENST00000530740.1	37	c.180		1	1092	0.5	242	0.491869918699187	184	0.5082872928176796	285	0.4982517482517482	381	0.5026385224274407	C	23.5	4.418607	0.83559	.	.	ENSG00000178104	ENST00000530740;ENST00000369359;ENST00000369348;ENST00000369345	.	.	.	3.72	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1867	0.48660	0.0:1.0:0.0:0.0	rs2762779;rs58382162	.	.	.	X	60	.	ENSP00000358351:W60X	W	-	3	0	PDE4DIP	143787040	1.000000	0.71417	0.998000	0.56505	0.220000	0.24768	2.191000	0.42640	2.068000	0.61886	0.561000	0.74099	TGG	PDE4DIP	-	NULL	ENSG00000178104		0.711	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000384663.2	8	0.00	0	C	NM_022359		145075683	145075683	-1	no_errors	ENST00000369348	ensembl	human	known	69_37n	nonsense	20	42.86	15	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	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	95	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	14	48.15	13	SNP	1.000	G
PLIN2	123	genome.wustl.edu	37	9	19126264	19126264	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr9:19126264G>A	ENST00000276914.2	-	3	253	c.74C>T	c.(73-75)aCg>aTg	p.T25M	PLIN2_ENST00000380465.3_Missense_Mutation_p.T25M|PLIN2_ENST00000411567.1_Missense_Mutation_p.T25M|PLIN2_ENST00000380464.3_Missense_Mutation_p.T25M	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	25					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						GAGGTCATACGTGGAGCTCAC	0.493																																						dbGAP											0													166.0	129.0	141.0					9																	19126264		2203	4300	6503	-	-	-	SO:0001583	missense	0			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.74C>T	9.37:g.19126264G>A	ENSP00000276914:p.Thr25Met		Q9BSC3	Missense_Mutation	SNP	pfam_Perilipin,pirsf_Perilipin	p.T25M	ENST00000276914.2	37	c.74	CCDS6490.1	9	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961360	0.92791	.	.	ENSG00000147872	ENST00000411567;ENST00000276914;ENST00000434144;ENST00000380465;ENST00000380464	T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8	5.54	5.54	0.83059	.	0.183391	0.64402	D	0.000017	T	0.42245	0.1194	M	0.88704	2.975	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.974	T	0.48445	-0.9035	10	0.72032	D	0.01	.	19.4898	0.95046	0.0:0.0:1.0:0.0	.	25;25	E9PG83;Q99541	.;PLIN2_HUMAN	M	25	ENSP00000415270:T25M;ENSP00000276914:T25M;ENSP00000403421:T25M;ENSP00000369832:T25M;ENSP00000369831:T25M	ENSP00000276914:T25M	T	-	2	0	PLIN2	19116264	1.000000	0.71417	0.705000	0.30386	0.894000	0.52154	9.670000	0.98625	2.585000	0.87301	0.561000	0.74099	ACG	PLIN2	-	pfam_Perilipin,pirsf_Perilipin	ENSG00000147872		0.493	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN2	HGNC	protein_coding	OTTHUMT00000051835.1	72	0.00	0	G	NM_001122		19126264	19126264	-1	no_errors	ENST00000276914	ensembl	human	known	69_37n	missense	92	42.86	69	SNP	1.000	A
PLXNB2	23654	genome.wustl.edu	37	22	50720419	50720421	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	GTG	GTG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr22:50720419_50720421delGTG	ENST00000449103.1	-	20	3347_3349	c.3207_3209delCAC	c.(3205-3210)ctcacg>ctg	p.T1070del	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_In_Frame_Del_p.T1070del			O15031	PLXB2_HUMAN	plexin B2	1070	IPT/TIG 3.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GATCAGCACCGTGAGGTTGTAGG	0.611																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3207_3209delCAC	22.37:g.50720419_50720421delGTG	ENSP00000409171:p.Thr1070del		A6QRH0|Q7KZU3|Q9BSU7	In_Frame_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.T1070in_frame_del	ENST00000449103.1	37	c.3209_3207	CCDS43035.1	22																																																																																			PLXNB2	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000196576		0.611	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	15	0.00	0	GTG	NM_012401		50720419	50720421	-1	no_errors	ENST00000359337	ensembl	human	known	69_37n	in_frame_del	10	58.62	17	DEL	0.999:1.000:1.000	-
POLI	11201	genome.wustl.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs78943519|rs10584411|rs3729509	byFrequency	TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	CGA	CGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_ENST00000579434.1_5'UTR|POLI_ENST00000406285.3_In_Frame_Del_p.D17del|POLI_ENST00000217800.5_5'Flank	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	17					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)						3926	0.783946	0.9705	0.6427	5008	,	,		12312	0.7054		0.7078	False		,,,				2504	0.7914					dbGAP											1	Deletion - In frame(1)	large_intestine(1)								3523,343		1644,235,54						1.5	0.0		dbSNP_119	14	5235,2405		1985,1265,570	no	coding	POLI	NM_007195.2		3629,1500,624	A1A1,A1R,RR		31.4791,8.8722,23.8832				8758,2748				-	-	-	SO:0001651	inframe_deletion	0				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.42_44delCGA	18.37:g.51795967_51795969delCGA	ENSP00000462664:p.Asp17del		Q8N590|Q9H0S1|Q9NYH6	In_Frame_Del	DEL	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pfscan_DNA_repair_prot_UmuC-like_N	p.D17in_frame_del	ENST00000579534.1	37	c.42_44	CCDS11954.2	18																																																																																			POLI	-	NULL	ENSG00000101751		0.729	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLI	HGNC	protein_coding	OTTHUMT00000256002.3	11	0.00	0	CGA	NM_007195		51795958	51795960	+1	no_errors	ENST00000579534	ensembl	human	known	69_37n	in_frame_del	16	30.43	7	DEL	0.000:0.000:0.000	-
PRKG1	5592	genome.wustl.edu	37	10	52834557	52834557	+	Intron	SNP	G	G	T			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr10:52834557G>T	ENST00000401604.2	+	2	460				PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Missense_Mutation_p.Q69H			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I						actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GCACCTTGCAGGGCGAGCCGC	0.647																																						dbGAP											0													197.0	130.0	152.0					10																	52834557		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.267-78367G>T	10.37:g.52834557G>T			A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom	p.Q69H	ENST00000401604.2	37	c.207	CCDS44399.1	10	.	.	.	.	.	.	.	.	.	.	g	12.32	1.903228	0.33628	.	.	ENSG00000185532	ENST00000373980	T	0.68025	-0.3	5.47	2.58	0.30949	.	0.478331	0.21576	N	0.072326	T	0.55049	0.1896	L	0.42245	1.32	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47156	-0.9139	10	0.42905	T	0.14	-8.3755	8.9671	0.35883	0.2521:0.0:0.7479:0.0	.	69	Q13976-2	.	H	69	ENSP00000363092:Q69H	ENSP00000363092:Q69H	Q	+	3	2	PRKG1	52504563	1.000000	0.71417	0.973000	0.42090	0.918000	0.54935	1.811000	0.38942	0.354000	0.24105	-0.119000	0.15052	CAG	PRKG1	-	pirsf_cGMP-dependent_protein_kinase	ENSG00000185532		0.647	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG1	HGNC	protein_coding		46	0.00	0	G			52834557	52834557	+1	no_errors	ENST00000373980	ensembl	human	known	69_37n	missense	106	43.62	82	SNP	0.996	T
RBM44	375316	genome.wustl.edu	37	2	238726899	238726900	+	Frame_Shift_Ins	INS	-	-	CCAC	rs375510231		TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr2:238726899_238726900insCCAC	ENST00000409864.1	+	3	1594_1595	c.1340_1341insCCAC	c.(1339-1344)ataggafs	p.G448fs	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Frame_Shift_Ins_p.G448fs			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	447						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TTTCACAATATAGGAGAAATGT	0.381																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	Exception_encountered	2.37:g.238726899_238726900insCCAC	ENSP00000386727:p.Gly448fs		A0AUW3	Frame_Shift_Ins	INS	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G448fs	ENST00000409864.1	37	c.1340_1341	CCDS46554.1	2																																																																																			RBM44	-	NULL	ENSG00000177483		0.381	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM44	HGNC	protein_coding	OTTHUMT00000328733.2	67	0.00	0	-	NM_001080504		238726899	238726900	+1	no_errors	ENST00000316997	ensembl	human	known	69_37n	frame_shift_ins	6	33.33	3	INS	0.000:0.001	CCAC
RBM44	375316	genome.wustl.edu	37	2	238726902	238726903	+	Frame_Shift_Ins	INS	-	-	C	rs143654945	byFrequency	TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr2:238726902_238726903insC	ENST00000409864.1	+	3	1597_1598	c.1343_1344insC	c.(1342-1347)ggagaafs	p.E449fs	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Frame_Shift_Ins_p.E449fs			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	448						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CACAATATAGGAGAAATGTGTA	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	Exception_encountered	2.37:g.238726902_238726903insC	ENSP00000386727:p.Glu449fs		A0AUW3	Frame_Shift_Ins	INS	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E449fs	ENST00000409864.1	37	c.1343_1344	CCDS46554.1	2																																																																																			RBM44	-	NULL	ENSG00000177483		0.386	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM44	HGNC	protein_coding	OTTHUMT00000328733.2	68	0.00	0	-	NM_001080504		238726902	238726903	+1	no_errors	ENST00000316997	ensembl	human	known	69_37n	frame_shift_ins	6	33.33	3	INS	0.010:0.002	C
RP1	6101	genome.wustl.edu	37	8	55539493	55539493	+	Silent	SNP	G	G	A	rs199573371		TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr8:55539493G>A	ENST00000220676.1	+	4	3199	c.3051G>A	c.(3049-3051)ttG>ttA	p.L1017L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1017					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATGCTTATTTGGTTCCCCTGC	0.373																																					Colon(91;1014 1389 7634 14542 40420)	dbGAP											0													214.0	231.0	226.0					8																	55539493		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3051G>A	8.37:g.55539493G>A				Silent	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.L1017	ENST00000220676.1	37	c.3051	CCDS6160.1	8																																																																																			RP1	-	NULL	ENSG00000104237		0.373	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	136	0.00	0	G	NM_006269		55539493	55539493	+1	no_errors	ENST00000220676	ensembl	human	known	69_37n	silent	78	40.91	54	SNP	0.000	A
RTEL1	51750	genome.wustl.edu	37	20	62309515	62309516	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr20:62309515_62309516insA	ENST00000360203.5	+	11	1262_1263	c.937_938insA	c.(937-939)gaafs	p.E313fs	RTEL1-TNFRSF6B_ENST00000482936.1_Frame_Shift_Ins_p.E313fs|RTEL1_ENST00000318100.4_Frame_Shift_Ins_p.E313fs|RTEL1_ENST00000370018.3_Frame_Shift_Ins_p.E313fs|RTEL1_ENST00000508582.2_Frame_Shift_Ins_p.E337fs					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CATGGAGCTGGAAGACATTGCA	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.939dupA	20.37:g.62309517_62309517dupA	ENSP00000353332:p.Glu313fs			Frame_Shift_Ins	INS	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.D314fs	ENST00000360203.5	37	c.937_938		20																																																																																			RTEL1	-	NULL	ENSG00000258366		0.599	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1	57	0.00	0	-	NM_032957		62309515	62309516	+1	no_errors	ENST00000318100	ensembl	human	known	69_37n	frame_shift_ins	564	10.62	67	INS	1.000:1.000	A
RTEL1	51750	genome.wustl.edu	37	20	62311271	62311271	+	Silent	SNP	G	G	A			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr20:62311271G>A	ENST00000360203.5	+	13	1432	c.1107G>A	c.(1105-1107)ctG>ctA	p.L369L	RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L369L|RTEL1_ENST00000318100.4_Silent_p.L369L|RTEL1_ENST00000370018.3_Silent_p.L369L|RTEL1_ENST00000508582.2_Silent_p.L393L					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TGGACTCGCTGGACCAGATCA	0.597																																						dbGAP											0													69.0	60.0	63.0					20																	62311271		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.1107G>A	20.37:g.62311271G>A				Silent	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.L369	ENST00000360203.5	37	c.1107		20																																																																																			RTEL1	-	NULL	ENSG00000258366		0.597	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1	39	0.00	0	G	NM_032957		62311271	62311271	+1	no_errors	ENST00000318100	ensembl	human	known	69_37n	silent	296	12.68	43	SNP	1.000	A
RTEL1	51750	genome.wustl.edu	37	20	62312019	62312019	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr20:62312019G>A	ENST00000360203.5	+	14	1463	c.1138G>A	c.(1138-1140)Gct>Act	p.A380T	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A380T|RTEL1_ENST00000318100.4_Missense_Mutation_p.A380T|RTEL1_ENST00000370018.3_Missense_Mutation_p.A380T|RTEL1_ENST00000508582.2_Missense_Mutation_p.A404T					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCCTCCAGGTGCTGGAGTGTT	0.682																																						dbGAP											0													95.0	86.0	89.0					20																	62312019		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.1138G>A	20.37:g.62312019G>A	ENSP00000353332:p.Ala380Thr			Missense_Mutation	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.A380T	ENST00000360203.5	37	c.1138		20	.	.	.	.	.	.	.	.	.	.	G	1.664	-0.510674	0.04231	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203	T;T;T;T	0.81330	-1.47;-1.48;-1.42;-1.47	4.39	0.434	0.16539	.	0.393509	0.28360	N	0.015630	T	0.48333	0.1494	N	0.03608	-0.345	0.09310	N	0.999999	B;B;B	0.18741	0.002;0.007;0.03	B;B;B	0.15052	0.009;0.002;0.012	T	0.44375	-0.9332	10	0.02654	T	1	-3.5128	4.7975	0.13279	0.5105:0.0:0.3417:0.1478	.	404;380;380	Q9NZ71-7;Q9NZ71;Q9NZ71-6	.;RTEL1_HUMAN;.	T	380;380;404;380	ENSP00000359035:A380T;ENSP00000322287:A380T;ENSP00000424307:A404T;ENSP00000353332:A380T	ENSP00000353332:A380T	A	+	1	0	AL353715.1	61782463	0.000000	0.05858	0.255000	0.24374	0.111000	0.19643	-0.409000	0.07160	-0.012000	0.14223	-0.140000	0.14226	GCT	RTEL1	-	NULL	ENSG00000258366		0.682	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1	26	0.00	0	G	NM_032957		62312019	62312019	+1	no_errors	ENST00000318100	ensembl	human	known	69_37n	missense	208	11.81	28	SNP	0.190	A
SAG	6295	genome.wustl.edu	37	2	234235788	234235788	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr2:234235788G>C	ENST00000409110.1	+	7	687	c.457G>C	c.(457-459)Gtc>Ctc	p.V153L	SAG_ENST00000449594.2_Missense_Mutation_p.V19L	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	153					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TGACTTTGAGGTCAAAGCATT	0.592																																						dbGAP											0													111.0	113.0	113.0					2																	234235788		2077	4217	6294	-	-	-	SO:0001583	missense	0				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.457G>C	2.37:g.234235788G>C	ENSP00000386444:p.Val153Leu		A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.V153L	ENST00000409110.1	37	c.457	CCDS46545.1	2	.	.	.	.	.	.	.	.	.	.	G	5.297	0.240274	0.10023	.	.	ENSG00000130561	ENST00000252857;ENST00000447536;ENST00000409110;ENST00000449594	T;T;T	0.21031	2.03;2.03;2.03	3.96	3.08	0.35506	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.274071	0.36628	N	0.002494	T	0.12347	0.0300	N	0.20357	0.565	0.41293	D	0.986992	B;B	0.22080	0.012;0.064	B;B	0.27796	0.006;0.083	T	0.12293	-1.0553	10	0.20519	T	0.43	-20.7646	7.9458	0.29985	0.1916:0.0:0.8084:0.0	.	19;153	B7Z7L5;P10523	.;ARRS_HUMAN	L	153;153;153;19	ENSP00000408937:V153L;ENSP00000386444:V153L;ENSP00000392889:V19L	ENSP00000252857:V153L	V	+	1	0	SAG	233900527	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	2.086000	0.41643	1.010000	0.39314	0.555000	0.69702	GTC	SAG	-	pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000130561		0.592	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAG	HGNC	protein_coding	OTTHUMT00000330126.1	30	0.00	0	G	NM_000541		234235788	234235788	+1	no_errors	ENST00000409110	ensembl	human	known	69_37n	missense	61	35.79	34	SNP	1.000	C
SDK1	221935	genome.wustl.edu	37	7	4056882	4056882	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr7:4056882G>A	ENST00000404826.2	+	17	2639	c.2500G>A	c.(2500-2502)Gac>Aac	p.D834N	SDK1_ENST00000389531.3_Missense_Mutation_p.D834N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	834	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTGGTGACAGACCTGATCAT	0.622																																						dbGAP											0													85.0	70.0	75.0					7																	4056882		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2500G>A	7.37:g.4056882G>A	ENSP00000385899:p.Asp834Asn		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D834N	ENST00000404826.2	37	c.2500	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.318063	0.95682	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57107	0.42;0.42	6.07	6.07	0.98685	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.137059	0.48286	D	0.000187	T	0.57917	0.2086	N	0.17922	0.545	0.80722	D	1	D;P	0.58620	0.983;0.928	P;P	0.60473	0.875;0.715	T	0.52290	-0.8595	10	0.30078	T	0.28	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	834;834	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	N	834	ENSP00000385899:D834N;ENSP00000374182:D834N	ENSP00000374182:D834N	D	+	1	0	SDK1	4023408	1.000000	0.71417	0.970000	0.41538	0.983000	0.72400	7.916000	0.87491	2.884000	0.98904	0.655000	0.94253	GAC	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.622	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	26	0.00	0	G	NM_152744		4056882	4056882	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	missense	37	58.89	53	SNP	1.000	A
SDK1	221935	genome.wustl.edu	37	7	4056981	4056982	+	Missense_Mutation	DNP	GG	GG	AC			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr7:4056981_4056982GG>AC	ENST00000404826.2	+	17	2738_2739	c.2599_2600GG>AC	c.(2599-2601)GGa>ACa	p.G867T	SDK1_ENST00000389531.3_Missense_Mutation_p.G867T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	867	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACCTTGCAGGGAGGTAAGCTT	0.535																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	Exception_encountered	7.37:g.4056981_4056982delinsAC	ENSP00000385899:p.Gly867Thr		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G867R|p.G867A	ENST00000404826.2	37	c.2599|c.2600	CCDS34590.1	7																																																																																			SDK1	-	superfamily_Fibronectin_type3	ENSG00000146555		0.535	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	24	0.00	0	G	NM_152744		4056981|4056982	4056981|4056982	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	missense	43	58.25|58.65	60|61	SNP	1.000	A|C
SHISA2	387914	genome.wustl.edu	37	13	26621019	26621019	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr13:26621019G>A	ENST00000319420.3	-	2	575	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	174					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GACGACCCCCGGGAGGTGCTG	0.657																																						dbGAP											0													42.0	48.0	46.0					13																	26621019		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"""Shisa homologs"""	20366	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 13"", ""transmembrane protein 46"", ""shisa homolog 2 (Xenopus laevis)"""	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.520C>T	13.37:g.26621019G>A	ENSP00000313079:p.Arg174Trp		B9EH70|Q5W0G8	Missense_Mutation	SNP	NULL	p.R174W	ENST00000319420.3	37	c.520	CCDS31951.1	13	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751820	0.49362	.	.	ENSG00000180730	ENST00000319420	T	0.43688	0.94	4.83	3.06	0.35304	.	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.56396	-0.7986	10	0.66056	D	0.02	-28.8004	13.802	0.63206	0.0:0.0:0.7221:0.2779	.	174	Q6UWI4	SHSA2_HUMAN	W	174	ENSP00000313079:R174W	ENSP00000313079:R174W	R	-	1	2	SHISA2	25519019	1.000000	0.71417	0.017000	0.16124	0.478000	0.33099	3.624000	0.54231	0.426000	0.26116	0.557000	0.71058	CGG	SHISA2	-	NULL	ENSG00000180730		0.657	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHISA2	HGNC	protein_coding	OTTHUMT00000044239.2	37	0.00	0	G	NM_001007538		26621019	26621019	-1	no_errors	ENST00000319420	ensembl	human	known	69_37n	missense	41	33.87	21	SNP	0.972	A
SLC10A2	6555	genome.wustl.edu	37	13	103698518	103698518	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr13:103698518T>C	ENST00000245312.3	-	6	1608	c.1012A>G	c.(1012-1014)Aag>Gag	p.K338E		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	338					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	CCATTTGCCTTATAAAACGAT	0.358																																						dbGAP											0													154.0	130.0	138.0					13																	103698518		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.1012A>G	13.37:g.103698518T>C	ENSP00000245312:p.Lys338Glu		A1L4F4|Q13839	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.K338E	ENST00000245312.3	37	c.1012	CCDS9506.1	13	.	.	.	.	.	.	.	.	.	.	T	1.500	-0.552338	0.03996	.	.	ENSG00000125255	ENST00000245312	T	0.08193	3.12	5.45	-1.57	0.08506	.	0.754985	0.13348	N	0.394649	T	0.03651	0.0104	N	0.11756	0.17	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46527	-0.9185	10	0.15066	T	0.55	-25.4261	6.9388	0.24481	0.0:0.1685:0.5303:0.3012	.	338	Q12908	NTCP2_HUMAN	E	338	ENSP00000245312:K338E	ENSP00000245312:K338E	K	-	1	0	SLC10A2	102496519	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.047000	0.14056	-0.396000	0.07703	0.528000	0.53228	AAG	SLC10A2	-	NULL	ENSG00000125255		0.358	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A2	HGNC	protein_coding	OTTHUMT00000045716.1	268	0.00	0	T			103698518	103698518	-1	no_errors	ENST00000245312	ensembl	human	known	69_37n	missense	45	43.04	34	SNP	0.000	C
SLC4A11	83959	genome.wustl.edu	37	20	3209309	3209309	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr20:3209309C>T	ENST00000380056.3	-	17	2332	c.2285G>A	c.(2284-2286)aGc>aAc	p.S762N	SLC4A11_ENST00000539553.2_Missense_Mutation_p.S746N|SLC4A11_ENST00000380059.3_Missense_Mutation_p.S789N|SLC4A11_ENST00000488544.1_5'Flank	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	762	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CACCAGGACGCTGGCGCCCAG	0.672																																					NSCLC(190;922 2139 10266 10292 38692)	dbGAP											0													62.0	58.0	59.0					20																	3209309		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.2285G>A	20.37:g.3209309C>T	ENSP00000369396:p.Ser762Asn		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk	p.S789N	ENST00000380056.3	37	c.2366	CCDS13052.1	20	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054669	0.36277	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.79141	-1.24;-1.24;-1.24	5.52	3.57	0.40892	Bicarbonate transporter, C-terminal (1);	0.045428	0.85682	D	0.000000	T	0.49474	0.1559	N	0.05177	-0.1	0.33285	D	0.562759	B;B;B	0.12630	0.005;0.006;0.006	B;B;B	0.18263	0.012;0.021;0.021	T	0.51694	-0.8673	10	0.07030	T	0.85	.	6.1253	0.20176	0.0:0.7134:0.0:0.2866	.	746;789;762	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	N	789;762;746	ENSP00000369399:S789N;ENSP00000369396:S762N;ENSP00000441370:S746N	ENSP00000369396:S762N	S	-	2	0	SLC4A11	3157309	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	3.944000	0.56629	2.598000	0.87819	0.462000	0.41574	AGC	SLC4A11	-	pfam_HCO3_transpt_C	ENSG00000088836		0.672	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	SLC4A11	HGNC	protein_coding	OTTHUMT00000077728.1	15	0.00	0	C			3209309	3209309	-1	no_errors	ENST00000380059	ensembl	human	known	69_37n	missense	14	44.00	11	SNP	1.000	T
STX7	8417	genome.wustl.edu	37	6	132792638	132792638	+	Silent	SNP	C	C	T			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr6:132792638C>T	ENST00000367941.2	-	5	464	c.351G>A	c.(349-351)gaG>gaA	p.E117E	STX7_ENST00000448348.3_5'UTR|STX7_ENST00000367937.4_Silent_p.E117E	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	117					intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		GAGCAACAAACTCTTTCTCTC	0.433																																						dbGAP											0													150.0	142.0	145.0					6																	132792638		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.351G>A	6.37:g.132792638C>T			E1P579|Q5SZW2|Q96ES9	Silent	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.E117	ENST00000367941.2	37	c.351	CCDS5153.1	6																																																																																			STX7	-	superfamily_t-SNARE	ENSG00000079950		0.433	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STX7	HGNC	protein_coding	OTTHUMT00000042252.2	124	0.00	0	C			132792638	132792638	-1	no_errors	ENST00000367941	ensembl	human	known	69_37n	silent	55	29.49	23	SNP	0.970	T
TCF7	6932	genome.wustl.edu	37	5	133473797	133473797	+	Silent	SNP	C	C	T			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr5:133473797C>T	ENST00000321584.4	+	4	685	c.489C>T	c.(487-489)taC>taT	p.Y163Y	TCF7_ENST00000395023.1_Silent_p.Y48Y|TCF7_ENST00000395029.1_Silent_p.Y163Y|TCF7_ENST00000321603.6_Silent_p.Y163Y|TCF7_ENST00000432532.2_Silent_p.Y48Y|TCF7_ENST00000517478.1_3'UTR|TCF7_ENST00000520958.1_Silent_p.Y48Y|TCF7_ENST00000342854.5_Silent_p.Y163Y|TCF7_ENST00000378564.1_Silent_p.Y163Y|TCF7_ENST00000518915.1_Silent_p.Y48Y|TCF7_ENST00000378560.4_Silent_p.Y48Y			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	163					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTCTCTCTACGAACATTTCA	0.592																																						dbGAP											0													129.0	120.0	123.0					5																	133473797		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.489C>T	5.37:g.133473797C>T			B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	NULL	p.T66M	ENST00000321584.4	37	c.197		5																																																																																			TCF7	-	NULL	ENSG00000081059		0.592	TCF7-201	KNOWN	basic	protein_coding	TCF7	HGNC	protein_coding		91	0.00	0	C	NM_201634		133473797	133473797	+1	no_errors	ENST00000517741	ensembl	human	known	69_37n	missense	181	39.26	117	SNP	0.995	T
TKT	7086	genome.wustl.edu	37	3	53263320	53263320	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr3:53263320C>T	ENST00000462138.1	-	9	1328	c.1240G>A	c.(1240-1242)Ggc>Agc	p.G414S	TKT_ENST00000423516.1_Missense_Mutation_p.G422S|TKT_ENST00000423525.2_Missense_Mutation_p.G414S|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000296289.6_Missense_Mutation_p.G367S			P29401	TKT_HUMAN	transketolase	414					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CAGTGGGAGCCGCAGAGGTTG	0.592																																					Colon(133;1506 2347 35238 42177)	dbGAP											0													51.0	50.0	51.0					3																	53263320		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1240G>A	3.37:g.53263320C>T	ENSP00000417773:p.Gly414Ser		A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.G414S	ENST00000462138.1	37	c.1240	CCDS2871.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.740809	0.96873	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	5.33	5.33	0.75918	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96728	0.8932	H	0.94582	3.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96316	0.9232	10	0.35671	T	0.21	-14.407	19.0493	0.93036	0.0:1.0:0.0:0.0	.	422;331;414	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	S	414;414;422;367;248	ENSP00000417773:G414S;ENSP00000405455:G414S;ENSP00000391481:G422S;ENSP00000296289:G367S	ENSP00000296289:G367S	G	-	1	0	TKT	53238360	1.000000	0.71417	0.938000	0.37757	0.947000	0.59692	7.818000	0.86416	2.490000	0.84030	0.655000	0.94253	GGC	TKT	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd	ENSG00000163931		0.592	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKT	HGNC	protein_coding	OTTHUMT00000350356.1	26	0.00	0	C			53263320	53263320	-1	no_errors	ENST00000423525	ensembl	human	known	69_37n	missense	54	34.52	29	SNP	1.000	T
TLR8	51311	genome.wustl.edu	37	X	12937622	12937622	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chrX:12937622C>T	ENST00000218032.6	+	2	550	c.463C>T	c.(463-465)Caa>Taa	p.Q155*	TLR8_ENST00000311912.5_Nonsense_Mutation_p.Q173*	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	155					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TAGTCTAATTCAAAACAATAT	0.363																																						dbGAP											0													56.0	58.0	57.0					X																	12937622		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.463C>T	X.37:g.12937622C>T	ENSP00000218032:p.Gln155*		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.Q155*	ENST00000218032.6	37	c.463	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551999	0.45487	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	.	.	.	5.09	5.09	0.68999	.	0.205951	0.24309	N	0.039648	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	7.3859	0.26882	0.0:0.6643:0.2396:0.096	.	.	.	.	X	155;173	.	ENSP00000218032:Q155X	Q	+	1	0	TLR8	12847543	0.000000	0.05858	0.772000	0.31596	0.062000	0.15995	0.265000	0.18515	2.120000	0.65058	0.523000	0.50628	CAA	TLR8	-	NULL	ENSG00000101916		0.363	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	86	0.00	0	C	NM_016610		12937622	12937622	+1	no_errors	ENST00000218032	ensembl	human	known	69_37n	nonsense	20	40.00	14	SNP	0.013	T
UNC79	57578	genome.wustl.edu	37	14	94097185	94097185	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr14:94097185C>T	ENST00000393151.2	+	31	5647	c.5647C>T	c.(5647-5649)Cga>Tga	p.R1883*	UNC79_ENST00000555664.1_Nonsense_Mutation_p.R1883*|UNC79_ENST00000553484.1_Nonsense_Mutation_p.R1905*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.R1706*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1883					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGAAATGCCACGAGAATCTTC	0.373																																						dbGAP											0													109.0	98.0	101.0					14																	94097185		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5647C>T	14.37:g.94097185C>T	ENSP00000376858:p.Arg1883*		B5MDL6|Q6ZUT7	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.R1905*	ENST00000393151.2	37	c.5713		14	.	.	.	.	.	.	.	.	.	.	C	45	11.760722	0.99599	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.23	4.22	0.49857	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3214	10.9569	0.47362	0.4043:0.5957:0.0:0.0	.	.	.	.	X	1706;1883;1905;1883;1905	.	ENSP00000256339:R1706X	R	+	1	2	KIAA1409	93166938	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.416000	0.44644	2.603000	0.88011	0.650000	0.86243	CGA	UNC79	-	superfamily_ARM-type_fold	ENSG00000133958		0.373	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	97	0.00	0	C	XM_028395		94097185	94097185	+1	no_errors	ENST00000553484	ensembl	human	known	69_37n	nonsense	82	32.79	40	SNP	1.000	T
VCAN	1462	genome.wustl.edu	37	5	82837519	82837520	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr5:82837519_82837520insG	ENST00000265077.3	+	8	9262_9263	c.8697_8698insG	c.(8698-8700)cctfs	p.P2900fs	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Frame_Shift_Ins_p.P1913fs|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2900	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CAAAATTAGAACCTTCAGAAGA	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	Exception_encountered	5.37:g.82837519_82837520insG	ENSP00000265077:p.Pro2900fs		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Frame_Shift_Ins	INS	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.P2899fs	ENST00000265077.3	37	c.8697_8698	CCDS4060.1	5																																																																																			VCAN	-	NULL	ENSG00000038427		0.386	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	53	0.00	0	-	NM_004385		82837519	82837520	+1	no_errors	ENST00000265077	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	0.003:0.000	G
ZCCHC8	55596	genome.wustl.edu	37	12	122966134	122966134	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr12:122966134T>C	ENST00000336229.4	-	10	1083	c.953A>G	c.(952-954)tAc>tGc	p.Y318C	ZCCHC8_ENST00000543897.1_Missense_Mutation_p.Y80C|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.Y80C	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	318					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CCCTGGTGGGTACCCTAGCTG	0.443																																						dbGAP											0													100.0	100.0	100.0					12																	122966134		1830	4093	5923	-	-	-	SO:0001583	missense	0			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.953A>G	12.37:g.122966134T>C	ENSP00000337313:p.Tyr318Cys		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.Y318C	ENST00000336229.4	37	c.953		12	.	.	.	.	.	.	.	.	.	.	T	27.0	4.787421	0.90367	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000544054;ENST00000536663	T;T;T	0.79554	-0.97;-0.97;-1.28	5.47	5.47	0.80525	PSP, proline-rich (2);	0.000000	0.85682	D	0.000000	D	0.90508	0.7026	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92091	0.5680	10	0.87932	D	0	-13.8663	15.5541	0.76177	0.0:0.0:0.0:1.0	.	318	Q6NZY4	ZCHC8_HUMAN	C	80;80;318;80;80	ENSP00000441423:Y80C;ENSP00000438993:Y80C;ENSP00000337313:Y318C	ENSP00000337313:Y318C	Y	-	2	0	ZCCHC8	121532087	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	7.340000	0.79292	2.080000	0.62538	0.374000	0.22700	TAC	ZCCHC8	-	pfam_PSP,smart_PSP	ENSG00000033030		0.443	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding		111	0.00	0	T	NM_017612		122966134	122966134	-1	no_errors	ENST00000336229	ensembl	human	known	69_37n	missense	56	40.82	40	SNP	1.000	C
ZNF18	7566	genome.wustl.edu	37	17	11881385	11881385	+	Silent	SNP	A	A	G			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr17:11881385A>G	ENST00000322748.3	-	9	2143	c.1539T>C	c.(1537-1539)gtT>gtC	p.V513V	ZNF18_ENST00000454073.3_Silent_p.V512V|RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000580306.2_Silent_p.V513V	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	513					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CTCCAGTGTGAACCCTCTGAT	0.423																																						dbGAP											0													114.0	116.0	115.0					17																	11881385		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1539T>C	17.37:g.11881385A>G			Q5QHQ3|Q8IYC4|Q8NAH6	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.V513	ENST00000322748.3	37	c.1539	CCDS32568.1	17																																																																																			ZNF18	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000154957		0.423	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF18	HGNC	protein_coding	OTTHUMT00000441450.2	269	0.37	1	A	XM_085596		11881385	11881385	-1	no_errors	ENST00000322748	ensembl	human	known	69_37n	silent	27	64.56	51	SNP	0.973	G
ZNF804B	219578	genome.wustl.edu	37	7	88962693	88962693	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr7:88962693delC	ENST00000333190.4	+	4	1006	c.397delC	c.(397-399)ccafs	p.P133fs		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	133							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGGAAATGGACCAGCATACAA	0.363										HNSCC(36;0.09)																												dbGAP											0													26.0	28.0	27.0					7																	88962693		2199	4297	6496	-	-	-	SO:0001589	frameshift_variant	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.397delC	7.37:g.88962693delC	ENSP00000329638:p.Pro133fs		B2RTV2|Q7Z714|Q96MN7	Frame_Shift_Del	DEL	pfam_Znf_C2H2_jaz	p.P133fs	ENST00000333190.4	37	c.397	CCDS5613.1	7																																																																																			ZNF804B	-	NULL	ENSG00000182348		0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	44	0.00	0	C	NM_181646		88962693	88962693	+1	no_errors	ENST00000333190	ensembl	human	known	69_37n	frame_shift_del	9	18.18	2	DEL	1.000	-
ZNF814	730051	genome.wustl.edu	37	19	58384888	58384888	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A105-01A-11D-A10M-09	TCGA-E2-A105-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2441f3e0-2016-4313-8c05-486759f5dd0f	5d595e01-bc5f-4480-8729-3b2806bda80a	g.chr19:58384888G>A	ENST00000435989.2	-	3	2104	c.1870C>T	c.(1870-1872)Cgc>Tgc	p.R624C	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	624					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GTGTGCATGCGCTGATGGTGA	0.463																																						dbGAP											0													76.0	61.0	66.0					19																	58384888		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1870C>T	19.37:g.58384888G>A	ENSP00000410545:p.Arg624Cys		A6NF35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R624C	ENST00000435989.2	37	c.1870	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	12.75	2.030231	0.35797	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.25749	1.78	2.04	-0.562	0.11781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43678	0.1258	M	0.85462	2.755	0.09310	N	1	D	0.89917	1.0	P	0.56474	0.799	T	0.32428	-0.9907	9	0.72032	D	0.01	.	7.8236	0.29303	0.0:0.0:0.4397:0.5603	.	624	B7Z6K7	ZN814_HUMAN	C	624;374	ENSP00000410545:R624C	ENSP00000365378:R374C	R	-	1	0	ZNF814	63076700	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-3.546000	0.00435	-0.367000	0.08052	0.305000	0.20034	CGC	ZNF814	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204514		0.463	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	138	0.72	1	G	XM_001725708		58384888	58384888	-1	no_errors	ENST00000435989	ensembl	human	known	69_37n	missense	89	38.62	56	SNP	0.030	A
