#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ANKRD34C	390616	genome.wustl.edu	37	15	79585975	79585975	+	Missense_Mutation	SNP	C	C	T	rs578238681		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr15:79585975C>T	ENST00000558647.2	+	1	349	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	ANKRD34C_ENST00000421388.2_Missense_Mutation_p.R117C			P0C6C1	AN34C_HUMAN	ankyrin repeat domain 34C	117										endometrium(3)|kidney(1)|skin(1)	5						CCTTGAAGATCGCACTGGGGC	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		22033	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													23.0	22.0	22.0					15																	79585975		685	1584	2269	-	-	-	SO:0001583	missense	0				CCDS53965.1	15q25.1	2013-01-10			ENSG00000235711	ENSG00000235711		"""Ankyrin repeat domain containing"""	33888	protein-coding gene	gene with protein product							Standard	NM_001146341		Approved		uc002bet.3	P0C6C1		ENST00000558647.2:c.349C>T	15.37:g.79585975C>T	ENSP00000454921:p.Arg117Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BNM1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R117C	ENST00000558647.2	37	c.349	CCDS53965.1	15	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289502	0.59976	.	.	ENSG00000235711	ENST00000421388	T	0.34472	1.36	4.38	4.38	0.52667	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.40645	0.1125	L	0.28556	0.865	0.38435	D	0.94655	D	0.76494	0.999	P	0.60886	0.88	T	0.39702	-0.9601	9	0.87932	D	0	.	8.4139	0.32659	0.0:0.8955:0.0:0.1045	.	117	P0C6C1	AN34C_HUMAN	C	117	ENSP00000401089:R117C	ENSP00000401089:R117C	R	+	1	0	ANKRD34C	77373030	0.959000	0.32827	0.615000	0.29064	0.808000	0.45660	1.768000	0.38511	2.404000	0.81709	0.561000	0.74099	CGC	ANKRD34C	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000235711		0.507	ANKRD34C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34C	HGNC	protein_coding	OTTHUMT00000416713.2	59	0.00	0	C	NM_001146341		79585975	79585975	+1	no_errors	ENST00000421388	ensembl	human	known	69_37n	missense	37	41.27	26	SNP	0.836	T
ANKRD34C	390616	genome.wustl.edu	37	15	79585975	79585975	+	Missense_Mutation	SNP	C	C	T	rs578238681		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr15:79585975C>T	ENST00000558647.2	+	1	349	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	ANKRD34C_ENST00000421388.2_Missense_Mutation_p.R117C			P0C6C1	AN34C_HUMAN	ankyrin repeat domain 34C	117										endometrium(3)|kidney(1)|skin(1)	5						CCTTGAAGATCGCACTGGGGC	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		22033	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													23.0	22.0	22.0					15																	79585975		685	1584	2269	-	-	-	SO:0001583	missense	0				CCDS53965.1	15q25.1	2013-01-10			ENSG00000235711	ENSG00000235711		"""Ankyrin repeat domain containing"""	33888	protein-coding gene	gene with protein product							Standard	NM_001146341		Approved		uc002bet.3	P0C6C1		ENST00000558647.2:c.349C>T	15.37:g.79585975C>T	ENSP00000454921:p.Arg117Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BNM1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R117C	ENST00000558647.2	37	c.349	CCDS53965.1	15	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289502	0.59976	.	.	ENSG00000235711	ENST00000421388	T	0.34472	1.36	4.38	4.38	0.52667	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.40645	0.1125	L	0.28556	0.865	0.38435	D	0.94655	D	0.76494	0.999	P	0.60886	0.88	T	0.39702	-0.9601	9	0.87932	D	0	.	8.4139	0.32659	0.0:0.8955:0.0:0.1045	.	117	P0C6C1	AN34C_HUMAN	C	117	ENSP00000401089:R117C	ENSP00000401089:R117C	R	+	1	0	ANKRD34C	77373030	0.959000	0.32827	0.615000	0.29064	0.808000	0.45660	1.768000	0.38511	2.404000	0.81709	0.561000	0.74099	CGC	ANKRD34C	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000235711		0.507	ANKRD34C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34C	HGNC	protein_coding	OTTHUMT00000416713.2	52	0.00	0	C	NM_001146341		79585975	79585975	+1	no_errors	ENST00000421388	ensembl	human	known	69_37n	missense	37	41.27	26	SNP	0.836	T
C12orf40	283461	genome.wustl.edu	37	12	40044140	40044140	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr12:40044140T>G	ENST00000324616.5	+	7	824	c.670T>G	c.(670-672)Ttt>Gtt	p.F224V	C12orf40_ENST00000398716.1_Missense_Mutation_p.F147V|C12orf40_ENST00000405531.3_Missense_Mutation_p.F224V	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	224										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TGGGACATTATTTGAAAGATT	0.323																																						dbGAP											0													63.0	57.0	59.0					12																	40044140		1812	4071	5883	-	-	-	SO:0001583	missense	0			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.670T>G	12.37:g.40044140T>G	ENSP00000317671:p.Phe224Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	NULL	p.F224V	ENST00000324616.5	37	c.670	CCDS41770.1	12	.	.	.	.	.	.	.	.	.	.	T	11.39	1.624701	0.28889	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.55413	0.52;0.54	3.61	2.45	0.29901	.	0.177602	0.27618	N	0.018563	T	0.35913	0.0948	L	0.29908	0.895	0.09310	N	0.999999	B	0.22909	0.077	B	0.17098	0.017	T	0.25082	-1.0142	10	0.51188	T	0.08	.	7.1427	0.25564	0.0:0.0:0.2294:0.7706	.	224	Q86WS4	CL040_HUMAN	V	224;147;224	ENSP00000383897:F224V;ENSP00000317671:F224V	ENSP00000317671:F224V	F	+	1	0	C12orf40	38330407	0.692000	0.27719	0.233000	0.24025	0.357000	0.29423	1.092000	0.30927	0.740000	0.32651	0.455000	0.32223	TTT	C12orf40	-	NULL	ENSG00000180116		0.323	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	265	0.00	0	T	NM_173599		40044140	40044140	+1	no_errors	ENST00000324616	ensembl	human	known	69_37n	missense	146	19.78	36	SNP	0.346	G
C12orf40	283461	genome.wustl.edu	37	12	40044140	40044140	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr12:40044140T>G	ENST00000324616.5	+	7	824	c.670T>G	c.(670-672)Ttt>Gtt	p.F224V	C12orf40_ENST00000398716.1_Missense_Mutation_p.F147V|C12orf40_ENST00000405531.3_Missense_Mutation_p.F224V	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	224										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TGGGACATTATTTGAAAGATT	0.323																																						dbGAP											0													63.0	57.0	59.0					12																	40044140		1812	4071	5883	-	-	-	SO:0001583	missense	0			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.670T>G	12.37:g.40044140T>G	ENSP00000317671:p.Phe224Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	NULL	p.F224V	ENST00000324616.5	37	c.670	CCDS41770.1	12	.	.	.	.	.	.	.	.	.	.	T	11.39	1.624701	0.28889	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.55413	0.52;0.54	3.61	2.45	0.29901	.	0.177602	0.27618	N	0.018563	T	0.35913	0.0948	L	0.29908	0.895	0.09310	N	0.999999	B	0.22909	0.077	B	0.17098	0.017	T	0.25082	-1.0142	10	0.51188	T	0.08	.	7.1427	0.25564	0.0:0.0:0.2294:0.7706	.	224	Q86WS4	CL040_HUMAN	V	224;147;224	ENSP00000383897:F224V;ENSP00000317671:F224V	ENSP00000317671:F224V	F	+	1	0	C12orf40	38330407	0.692000	0.27719	0.233000	0.24025	0.357000	0.29423	1.092000	0.30927	0.740000	0.32651	0.455000	0.32223	TTT	C12orf40	-	NULL	ENSG00000180116		0.323	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	359	0.00	0	T	NM_173599		40044140	40044140	+1	no_errors	ENST00000324616	ensembl	human	known	69_37n	missense	146	19.78	36	SNP	0.346	G
CACNA1B	774	genome.wustl.edu	37	9	140952286	140952286	+	Silent	SNP	G	G	A	rs201831671		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr9:140952286G>A	ENST00000371372.1	+	27	4216	c.4071G>A	c.(4069-4071)acG>acA	p.T1357T	CACNA1B_ENST00000371357.1_Silent_p.T1358T|CACNA1B_ENST00000371363.1_Silent_p.T1357T|CACNA1B_ENST00000371355.4_Silent_p.T1358T|CACNA1B_ENST00000277551.2_Silent_p.T1357T|CACNA1B_ENST00000277549.5_Silent_p.T553T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1357					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCTGCTGACGCTGTTCACAG	0.572																																						dbGAP											0													55.0	56.0	56.0					9																	140952286		2083	4204	6287	-	-	-	SO:0001819	synonymous_variant	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4071G>A	9.37:g.140952286G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQK5	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.T1358	ENST00000371372.1	37	c.4074	CCDS59522.1	9																																																																																			CACNA1B	-	pfam_Ion_trans_dom	ENSG00000148408		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	158	0.00	0	G	NM_000718		140952286	140952286	+1	no_errors	ENST00000371355	ensembl	human	known	69_37n	silent	113	28.57	46	SNP	0.000	A
CACNA1B	774	genome.wustl.edu	37	9	140952286	140952286	+	Silent	SNP	G	G	A	rs201831671		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr9:140952286G>A	ENST00000371372.1	+	27	4216	c.4071G>A	c.(4069-4071)acG>acA	p.T1357T	CACNA1B_ENST00000371357.1_Silent_p.T1358T|CACNA1B_ENST00000371363.1_Silent_p.T1357T|CACNA1B_ENST00000371355.4_Silent_p.T1358T|CACNA1B_ENST00000277551.2_Silent_p.T1357T|CACNA1B_ENST00000277549.5_Silent_p.T553T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1357					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCTGCTGACGCTGTTCACAG	0.572																																						dbGAP											0													55.0	56.0	56.0					9																	140952286		2083	4204	6287	-	-	-	SO:0001819	synonymous_variant	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4071G>A	9.37:g.140952286G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQK5	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.T1358	ENST00000371372.1	37	c.4074	CCDS59522.1	9																																																																																			CACNA1B	-	pfam_Ion_trans_dom	ENSG00000148408		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	108	0.00	0	G	NM_000718		140952286	140952286	+1	no_errors	ENST00000371355	ensembl	human	known	69_37n	silent	113	28.57	46	SNP	0.000	A
CAT	847	genome.wustl.edu	37	11	34492955	34492955	+	Missense_Mutation	SNP	C	C	T	rs573379158		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr11:34492955C>T	ENST00000241052.4	+	13	1648	c.1559C>T	c.(1558-1560)gCg>gTg	p.A520V	CAT_ENST00000534710.1_3'UTR	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	520				A -> V (in Ref. 3; AAK29181). {ECO:0000305}.	aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TCTCACTTGGCGGCAAGGGAG	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		17446	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													118.0	110.0	113.0					11																	34492955		2202	4298	6500	-	-	-	SO:0001583	missense	0			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1559C>T	11.37:g.34492955C>T	ENSP00000241052:p.Ala520Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase	p.A520V	ENST00000241052.4	37	c.1559	CCDS7891.1	11	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776655	0.31411	.	.	ENSG00000121691	ENST00000241052	D	0.91577	-2.87	5.18	3.28	0.37604	.	0.597985	0.19142	N	0.121670	T	0.81221	0.4777	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.65348	-0.6190	10	0.23302	T	0.38	-4.4672	7.5584	0.27837	0.0:0.744:0.1659:0.0901	.	520	P04040	CATA_HUMAN	V	520	ENSP00000241052:A520V	ENSP00000241052:A520V	A	+	2	0	CAT	34449531	0.712000	0.27916	0.001000	0.08648	0.006000	0.05464	2.134000	0.42102	0.671000	0.31185	-0.215000	0.12644	GCG	CAT	-	NULL	ENSG00000121691		0.502	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAT	HGNC	protein_coding	OTTHUMT00000103197.2	290	0.00	0	C	NM_001752		34492955	34492955	+1	no_errors	ENST00000241052	ensembl	human	known	69_37n	missense	145	32.56	70	SNP	0.021	T
CAT	847	genome.wustl.edu	37	11	34492955	34492955	+	Missense_Mutation	SNP	C	C	T	rs573379158		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr11:34492955C>T	ENST00000241052.4	+	13	1648	c.1559C>T	c.(1558-1560)gCg>gTg	p.A520V	CAT_ENST00000534710.1_3'UTR	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	520				A -> V (in Ref. 3; AAK29181). {ECO:0000305}.	aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TCTCACTTGGCGGCAAGGGAG	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		17446	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													118.0	110.0	113.0					11																	34492955		2202	4298	6500	-	-	-	SO:0001583	missense	0			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1559C>T	11.37:g.34492955C>T	ENSP00000241052:p.Ala520Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase	p.A520V	ENST00000241052.4	37	c.1559	CCDS7891.1	11	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776655	0.31411	.	.	ENSG00000121691	ENST00000241052	D	0.91577	-2.87	5.18	3.28	0.37604	.	0.597985	0.19142	N	0.121670	T	0.81221	0.4777	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.65348	-0.6190	10	0.23302	T	0.38	-4.4672	7.5584	0.27837	0.0:0.744:0.1659:0.0901	.	520	P04040	CATA_HUMAN	V	520	ENSP00000241052:A520V	ENSP00000241052:A520V	A	+	2	0	CAT	34449531	0.712000	0.27916	0.001000	0.08648	0.006000	0.05464	2.134000	0.42102	0.671000	0.31185	-0.215000	0.12644	GCG	CAT	-	NULL	ENSG00000121691		0.502	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAT	HGNC	protein_coding	OTTHUMT00000103197.2	183	0.00	0	C	NM_001752		34492955	34492955	+1	no_errors	ENST00000241052	ensembl	human	known	69_37n	missense	145	32.56	70	SNP	0.021	T
CBFB	865	genome.wustl.edu	37	16	67070600	67070601	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr16:67070600_67070601delGA	ENST00000290858.6	+	3	485_486	c.224_225delGA	c.(223-225)ggafs	p.G75fs	CBFB_ENST00000412916.2_Frame_Shift_Del_p.G75fs|CBFB_ENST00000561924.2_5'UTR	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	75					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		AGCTGGCAGGGAGAACAGCGAC	0.441			T	MYH11	AML																																	dbGAP		Dom	yes		16	16q22	865	"""core-binding factor, beta subunit"""		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.224_225delGA	16.37:g.67070602_67070603delGA	ENSP00000290858:p.Gly75fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K347|Q13124|Q9HCT2	Frame_Shift_Del	DEL	pfam_CBF_beta,superfamily_CBF_beta	p.E76fs	ENST00000290858.6	37	c.224_225	CCDS10827.1	16																																																																																			CBFB	-	pfam_CBF_beta,superfamily_CBF_beta	ENSG00000067955		0.441	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	HGNC	protein_coding	OTTHUMT00000268843.2	193	0.00	0	GA	NM_001755		67070600	67070601	+1	no_errors	ENST00000290858	ensembl	human	known	69_37n	frame_shift_del	97	37.82	59	DEL	1.000:1.000	-
CBFB	865	genome.wustl.edu	37	16	67070600	67070601	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr16:67070600_67070601delGA	ENST00000290858.6	+	3	485_486	c.224_225delGA	c.(223-225)ggafs	p.G75fs	CBFB_ENST00000412916.2_Frame_Shift_Del_p.G75fs|CBFB_ENST00000561924.2_5'UTR	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	75					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		AGCTGGCAGGGAGAACAGCGAC	0.441			T	MYH11	AML																																	dbGAP		Dom	yes		16	16q22	865	"""core-binding factor, beta subunit"""		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.224_225delGA	16.37:g.67070602_67070603delGA	ENSP00000290858:p.Gly75fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K347|Q13124|Q9HCT2	Frame_Shift_Del	DEL	pfam_CBF_beta,superfamily_CBF_beta	p.E76fs	ENST00000290858.6	37	c.224_225	CCDS10827.1	16																																																																																			CBFB	-	pfam_CBF_beta,superfamily_CBF_beta	ENSG00000067955		0.441	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	HGNC	protein_coding	OTTHUMT00000268843.2	258	0.00	0	GA	NM_001755		67070600	67070601	+1	no_errors	ENST00000290858	ensembl	human	known	69_37n	frame_shift_del	97	37.82	59	DEL	1.000:1.000	-
CCDC112	153733	genome.wustl.edu	37	5	114620509	114620509	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs187304678		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr5:114620509G>A	ENST00000512261.1	-	0	252				CCDC112_ENST00000506442.1_De_novo_Start_OutOfFrame|CCDC112_ENST00000503027.1_Intron|CCDC112_ENST00000395557.4_De_novo_Start_OutOfFrame|CCDC112_ENST00000379611.5_Missense_Mutation_p.R72C			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112									p.R72C(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TCTGCTGTGCGTACAAATTCT	0.313													G|||	1	0.000199681	0.0	0.0	5008	,	,		16473	0.0		0.001	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	kidney(1)											60.0	58.0	59.0					5																	114620509		2202	4300	6502	-	-	-			0			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.-165C>T	5.37:g.114620509G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6A334	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.R72C	ENST00000512261.1	37	c.214	CCDS4117.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.1	3.938636	0.73557	.	.	ENSG00000164221	ENST00000379611	T	0.27890	1.64	5.57	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.53769	0.1817	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.56823	-0.7915	9	0.87932	D	0	-0.6437	14.1589	0.65434	0.0:0.0:0.783:0.217	.	72	Q8NEF3-2	.	C	72	ENSP00000368931:R72C	ENSP00000368931:R72C	R	-	1	0	CCDC112	114648408	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	2.760000	0.47581	2.785000	0.95823	0.655000	0.94253	CGC	CCDC112	-	NULL	ENSG00000164221		0.313	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	CCDC112	HGNC	protein_coding	OTTHUMT00000370999.1	240	0.00	0	G	NM_152549		114620509	114620509	-1	no_errors	ENST00000379611	ensembl	human	known	69_37n	missense	136	29.53	57	SNP	0.952	A
CCDC112	153733	genome.wustl.edu	37	5	114620509	114620509	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs187304678		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr5:114620509G>A	ENST00000512261.1	-	0	252				CCDC112_ENST00000506442.1_De_novo_Start_OutOfFrame|CCDC112_ENST00000503027.1_Intron|CCDC112_ENST00000395557.4_De_novo_Start_OutOfFrame|CCDC112_ENST00000379611.5_Missense_Mutation_p.R72C			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112									p.R72C(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TCTGCTGTGCGTACAAATTCT	0.313													G|||	1	0.000199681	0.0	0.0	5008	,	,		16473	0.0		0.001	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	kidney(1)											60.0	58.0	59.0					5																	114620509		2202	4300	6502	-	-	-			0			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.-165C>T	5.37:g.114620509G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6A334	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.R72C	ENST00000512261.1	37	c.214	CCDS4117.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.1	3.938636	0.73557	.	.	ENSG00000164221	ENST00000379611	T	0.27890	1.64	5.57	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.53769	0.1817	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.56823	-0.7915	9	0.87932	D	0	-0.6437	14.1589	0.65434	0.0:0.0:0.783:0.217	.	72	Q8NEF3-2	.	C	72	ENSP00000368931:R72C	ENSP00000368931:R72C	R	-	1	0	CCDC112	114648408	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	2.760000	0.47581	2.785000	0.95823	0.655000	0.94253	CGC	CCDC112	-	NULL	ENSG00000164221		0.313	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	CCDC112	HGNC	protein_coding	OTTHUMT00000370999.1	220	0.00	0	G	NM_152549		114620509	114620509	-1	no_errors	ENST00000379611	ensembl	human	known	69_37n	missense	136	29.53	57	SNP	0.952	A
DBH	1621	genome.wustl.edu	37	9	136508616	136508616	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr9:136508616G>A	ENST00000393056.2	+	4	838	c.826G>A	c.(826-828)Gtc>Atc	p.V276I		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	276					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.V276I(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GATGGACAGCGTCCCCCACTT	0.657																																						dbGAP											1	Substitution - Missense(1)	pancreas(1)											77.0	76.0	76.0					9																	136508616		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.826G>A	9.37:g.136508616G>A	ENSP00000376776:p.Val276Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T381|Q96AG2	Missense_Mutation	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.V276I	ENST00000393056.2	37	c.826	CCDS6977.2	9	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.699360	0.00725	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.29917	1.55;1.55	4.9	-8.25	0.01025	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.610624	0.17687	N	0.165404	T	0.07954	0.0199	N	0.04373	-0.215	0.19775	N	0.99995	B	0.06786	0.001	B	0.11329	0.006	T	0.25502	-1.0130	10	0.02654	T	1	-15.1191	7.9737	0.30143	0.4294:0.0:0.3685:0.2021	.	276	P09172	DOPO_HUMAN	I	276;213;213	ENSP00000376776:V276I;ENSP00000263611:V213I	ENSP00000263611:V213I	V	+	1	0	DBH	135498437	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.053000	0.03500	-1.933000	0.01052	-0.410000	0.06199	GTC	DBH	-	pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom	ENSG00000123454		0.657	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBH	HGNC	protein_coding	OTTHUMT00000054929.2	46	0.00	0	G	NM_000787		136508616	136508616	+1	no_errors	ENST00000393056	ensembl	human	known	69_37n	missense	28	17.65	6	SNP	0.017	A
DBH	1621	genome.wustl.edu	37	9	136508616	136508616	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr9:136508616G>A	ENST00000393056.2	+	4	838	c.826G>A	c.(826-828)Gtc>Atc	p.V276I		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	276					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.V276I(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GATGGACAGCGTCCCCCACTT	0.657																																						dbGAP											1	Substitution - Missense(1)	pancreas(1)											77.0	76.0	76.0					9																	136508616		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.826G>A	9.37:g.136508616G>A	ENSP00000376776:p.Val276Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T381|Q96AG2	Missense_Mutation	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.V276I	ENST00000393056.2	37	c.826	CCDS6977.2	9	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.699360	0.00725	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.29917	1.55;1.55	4.9	-8.25	0.01025	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.610624	0.17687	N	0.165404	T	0.07954	0.0199	N	0.04373	-0.215	0.19775	N	0.99995	B	0.06786	0.001	B	0.11329	0.006	T	0.25502	-1.0130	10	0.02654	T	1	-15.1191	7.9737	0.30143	0.4294:0.0:0.3685:0.2021	.	276	P09172	DOPO_HUMAN	I	276;213;213	ENSP00000376776:V276I;ENSP00000263611:V213I	ENSP00000263611:V213I	V	+	1	0	DBH	135498437	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.053000	0.03500	-1.933000	0.01052	-0.410000	0.06199	GTC	DBH	-	pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom	ENSG00000123454		0.657	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBH	HGNC	protein_coding	OTTHUMT00000054929.2	29	0.00	0	G	NM_000787		136508616	136508616	+1	no_errors	ENST00000393056	ensembl	human	known	69_37n	missense	28	17.65	6	SNP	0.017	A
EPHA5	2044	genome.wustl.edu	37	4	66201815	66201815	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr4:66201815C>T	ENST00000273854.3	-	16	3287	c.2687G>A	c.(2686-2688)cGt>cAt	p.R896H	EPHA5_ENST00000432638.2_Missense_Mutation_p.R733H|EPHA5_ENST00000354839.4_Missense_Mutation_p.R874H|EPHA5_ENST00000511294.1_Missense_Mutation_p.R897H	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	896	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GCTTGGCAGACGATAGCCTTC	0.438										TSP Lung(17;0.13)																												dbGAP											0													96.0	81.0	86.0					4																	66201815		2203	4299	6502	-	-	-	SO:0001583	missense	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2687G>A	4.37:g.66201815C>T	ENSP00000273854:p.Arg896His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R896H	ENST00000273854.3	37	c.2687	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.691528	0.96793	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.93	5.93	0.95920	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	D	0.94282	0.8163	M	0.90145	3.09	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.94480	0.7692	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	875;897;874;896	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	H	896;733;874;897	ENSP00000273854:R896H;ENSP00000389208:R733H;ENSP00000346899:R874H;ENSP00000427638:R897H	ENSP00000273854:R896H	R	-	2	0	EPHA5	65884410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CGT	EPHA5	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom	ENSG00000145242		0.438	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	281	0.00	0	C	NM_004439		66201815	66201815	-1	no_errors	ENST00000273854	ensembl	human	known	69_37n	missense	231	20.62	60	SNP	1.000	T
EPHA5	2044	genome.wustl.edu	37	4	66201815	66201815	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr4:66201815C>T	ENST00000273854.3	-	16	3287	c.2687G>A	c.(2686-2688)cGt>cAt	p.R896H	EPHA5_ENST00000432638.2_Missense_Mutation_p.R733H|EPHA5_ENST00000354839.4_Missense_Mutation_p.R874H|EPHA5_ENST00000511294.1_Missense_Mutation_p.R897H	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	896	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GCTTGGCAGACGATAGCCTTC	0.438										TSP Lung(17;0.13)																												dbGAP											0													96.0	81.0	86.0					4																	66201815		2203	4299	6502	-	-	-	SO:0001583	missense	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2687G>A	4.37:g.66201815C>T	ENSP00000273854:p.Arg896His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R896H	ENST00000273854.3	37	c.2687	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.691528	0.96793	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.93	5.93	0.95920	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	D	0.94282	0.8163	M	0.90145	3.09	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.94480	0.7692	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	875;897;874;896	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	H	896;733;874;897	ENSP00000273854:R896H;ENSP00000389208:R733H;ENSP00000346899:R874H;ENSP00000427638:R897H	ENSP00000273854:R896H	R	-	2	0	EPHA5	65884410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CGT	EPHA5	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom	ENSG00000145242		0.438	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	233	0.43	1	C	NM_004439		66201815	66201815	-1	no_errors	ENST00000273854	ensembl	human	known	69_37n	missense	231	20.62	60	SNP	1.000	T
GABRB2	2561	genome.wustl.edu	37	5	160753392	160753392	+	Missense_Mutation	SNP	C	C	A	rs150956270		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr5:160753392C>A	ENST00000393959.1	-	9	1173	c.1174G>T	c.(1174-1176)Gat>Tat	p.D392Y	GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000274547.2_Missense_Mutation_p.D392Y|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000353437.6_Intron			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	392					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGAGAGAAATCGTaattggta	0.383																																						dbGAP											0													116.0	113.0	114.0					5																	160753392		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1174G>T	5.37:g.160753392C>A	ENSP00000377531:p.Asp392Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel	p.D392Y	ENST00000393959.1	37	c.1174	CCDS4355.1	5	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050666	0.36181	.	.	ENSG00000145864	ENST00000393959;ENST00000274547	T;T	0.70045	-0.45;-0.45	5.23	4.36	0.52297	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.292150	0.06647	U	0.762074	T	0.57829	0.2080	N	0.24115	0.695	0.31254	N	0.693707	B	0.02656	0.0	B	0.06405	0.002	T	0.54118	-0.8341	10	0.59425	D	0.04	.	13.2573	0.60087	0.0:0.8408:0.1592:0.0	.	392	P47870	GBRB2_HUMAN	Y	392	ENSP00000377531:D392Y;ENSP00000274547:D392Y	ENSP00000274547:D392Y	D	-	1	0	GABRB2	160685970	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.291000	0.33330	1.190000	0.43042	0.563000	0.77884	GAT	GABRB2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000145864		0.383	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB2	HGNC	protein_coding	OTTHUMT00000252704.1	324	0.00	0	C			160753392	160753392	-1	no_errors	ENST00000274547	ensembl	human	known	69_37n	missense	230	29.01	94	SNP	1.000	A
GABRB2	2561	genome.wustl.edu	37	5	160753392	160753392	+	Missense_Mutation	SNP	C	C	A	rs150956270		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr5:160753392C>A	ENST00000393959.1	-	9	1173	c.1174G>T	c.(1174-1176)Gat>Tat	p.D392Y	GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000274547.2_Missense_Mutation_p.D392Y|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000353437.6_Intron			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	392					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGAGAGAAATCGTaattggta	0.383																																						dbGAP											0													116.0	113.0	114.0					5																	160753392		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1174G>T	5.37:g.160753392C>A	ENSP00000377531:p.Asp392Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel	p.D392Y	ENST00000393959.1	37	c.1174	CCDS4355.1	5	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050666	0.36181	.	.	ENSG00000145864	ENST00000393959;ENST00000274547	T;T	0.70045	-0.45;-0.45	5.23	4.36	0.52297	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.292150	0.06647	U	0.762074	T	0.57829	0.2080	N	0.24115	0.695	0.31254	N	0.693707	B	0.02656	0.0	B	0.06405	0.002	T	0.54118	-0.8341	10	0.59425	D	0.04	.	13.2573	0.60087	0.0:0.8408:0.1592:0.0	.	392	P47870	GBRB2_HUMAN	Y	392	ENSP00000377531:D392Y;ENSP00000274547:D392Y	ENSP00000274547:D392Y	D	-	1	0	GABRB2	160685970	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.291000	0.33330	1.190000	0.43042	0.563000	0.77884	GAT	GABRB2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000145864		0.383	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB2	HGNC	protein_coding	OTTHUMT00000252704.1	390	0.00	0	C			160753392	160753392	-1	no_errors	ENST00000274547	ensembl	human	known	69_37n	missense	230	29.01	94	SNP	1.000	A
KCNQ3	3786	genome.wustl.edu	37	8	133141532	133141532	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr8:133141532T>C	ENST00000388996.4	-	15	3016	c.2596A>G	c.(2596-2598)Acc>Gcc	p.T866A	KCNQ3_ENST00000519445.1_Missense_Mutation_p.T854A|KCNQ3_ENST00000521134.1_Missense_Mutation_p.T746A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	866					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TTGGAAGGGGTCCATACTGAA	0.532																																						dbGAP											0													76.0	63.0	68.0					8																	133141532		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2596A>G	8.37:g.133141532T>C	ENSP00000373648:p.Thr866Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.T866A	ENST00000388996.4	37	c.2596	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	T	7.121	0.578008	0.13686	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	T;T;T	0.40476	1.03;1.03;1.03	5.36	5.36	0.76844	.	0.111526	0.64402	D	0.000012	T	0.24851	0.0603	N	0.08118	0	0.40338	D	0.979	B;B	0.27700	0.186;0.186	B;B	0.27500	0.08;0.08	T	0.12091	-1.0561	10	0.25106	T	0.35	-25.1613	14.5351	0.67955	0.0:0.0:0.0:1.0	.	854;866	E7ET42;O43525	.;KCNQ3_HUMAN	A	866;746;854;843;745	ENSP00000373648:T866A;ENSP00000429799:T746A;ENSP00000428790:T854A	ENSP00000373648:T866A	T	-	1	0	KCNQ3	133210714	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	4.378000	0.59568	2.020000	0.59435	0.459000	0.35465	ACC	KCNQ3	-	pfam_Ankyrin-G_BS	ENSG00000184156		0.532	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	76	0.00	0	T	NM_004519		133141532	133141532	-1	no_errors	ENST00000388996	ensembl	human	known	69_37n	missense	84	20.35	23	SNP	1.000	C
KCNQ3	3786	genome.wustl.edu	37	8	133141532	133141532	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr8:133141532T>C	ENST00000388996.4	-	15	3016	c.2596A>G	c.(2596-2598)Acc>Gcc	p.T866A	KCNQ3_ENST00000519445.1_Missense_Mutation_p.T854A|KCNQ3_ENST00000521134.1_Missense_Mutation_p.T746A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	866					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TTGGAAGGGGTCCATACTGAA	0.532																																						dbGAP											0													76.0	63.0	68.0					8																	133141532		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2596A>G	8.37:g.133141532T>C	ENSP00000373648:p.Thr866Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.T866A	ENST00000388996.4	37	c.2596	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	T	7.121	0.578008	0.13686	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	T;T;T	0.40476	1.03;1.03;1.03	5.36	5.36	0.76844	.	0.111526	0.64402	D	0.000012	T	0.24851	0.0603	N	0.08118	0	0.40338	D	0.979	B;B	0.27700	0.186;0.186	B;B	0.27500	0.08;0.08	T	0.12091	-1.0561	10	0.25106	T	0.35	-25.1613	14.5351	0.67955	0.0:0.0:0.0:1.0	.	854;866	E7ET42;O43525	.;KCNQ3_HUMAN	A	866;746;854;843;745	ENSP00000373648:T866A;ENSP00000429799:T746A;ENSP00000428790:T854A	ENSP00000373648:T866A	T	-	1	0	KCNQ3	133210714	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	4.378000	0.59568	2.020000	0.59435	0.459000	0.35465	ACC	KCNQ3	-	pfam_Ankyrin-G_BS	ENSG00000184156		0.532	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	43	0.00	0	T	NM_004519		133141532	133141532	-1	no_errors	ENST00000388996	ensembl	human	known	69_37n	missense	84	20.35	23	SNP	1.000	C
MAPKBP1	23005	genome.wustl.edu	37	15	42115928	42115928	+	Silent	SNP	C	C	T			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr15:42115928C>T	ENST00000456763.2	+	30	4096	c.3900C>T	c.(3898-3900)atC>atT	p.I1300I	MAPKBP1_ENST00000221214.6_Silent_p.I1177I|MAPKBP1_ENST00000260357.7_Silent_p.I1133I|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000514566.1_Intron|RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000457542.2_Silent_p.I1294I	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1300										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCCTGGACATCCCCAAACCAC	0.657																																						dbGAP											0													78.0	79.0	78.0					15																	42115928		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.3900C>T	15.37:g.42115928C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I1300	ENST00000456763.2	37	c.3900	CCDS45239.1	15																																																																																			MAPKBP1	-	NULL	ENSG00000137802		0.657	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1	139	0.00	0	C	NM_014994		42115928	42115928	+1	no_errors	ENST00000456763	ensembl	human	known	69_37n	silent	119	19.05	28	SNP	0.995	T
MST1L	11223	genome.wustl.edu	37	1	17085795	17085795	+	RNA	SNP	G	G	T	rs1057379	byFrequency	TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr1:17085795G>T	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.I332I(2)|p.I342I(2)									TACAACGCCGGATCTGGTAGC	0.687																																						dbGAP											4	Substitution - coding silent(4)	kidney(2)|endometrium(2)																																								-	-	-			0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085795G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPB1|Q13209	Silent	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.I342	ENST00000455405.2	37	c.1026		1																																																																																			MST1P9	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000186715		0.687	MST1L-002	KNOWN	basic	processed_transcript	MST1P9	HGNC	pseudogene	OTTHUMT00000400328.1	25	0.00	0	G	NM_001271733		17085795	17085795	-1	no_errors	ENST00000334998	ensembl	human	known	69_37n	silent	25	19.35	6	SNP	1.000	T
MTMR12	54545	genome.wustl.edu	37	5	32233993	32233993	+	Silent	SNP	G	G	C	rs140912569		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr5:32233993G>C	ENST00000382142.3	-	15	1730	c.1560C>G	c.(1558-1560)acC>acG	p.T520T	MTMR12_ENST00000264934.5_Intron|MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000280285.5_Intron|RNU6-1079P_ENST00000362861.1_RNA	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	520	Interaction with MTM1.|Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AATCCCACACGGTGAGCAGAT	0.502																																						dbGAP											0													129.0	121.0	124.0					5																	32233993		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1560C>G	5.37:g.32233993G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Silent	SNP	pfam_Myotubularin_assoc	p.T520	ENST00000382142.3	37	c.1560	CCDS34138.1	5																																																																																			MTMR12	-	NULL	ENSG00000150712		0.502	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR12	HGNC	protein_coding	OTTHUMT00000366579.1	315	0.00	0	G	NM_019061		32233993	32233993	-1	no_errors	ENST00000382142	ensembl	human	known	69_37n	silent	285	21.21	77	SNP	0.995	C
MTMR12	54545	genome.wustl.edu	37	5	32233993	32233993	+	Silent	SNP	G	G	C	rs140912569		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr5:32233993G>C	ENST00000382142.3	-	15	1730	c.1560C>G	c.(1558-1560)acC>acG	p.T520T	MTMR12_ENST00000264934.5_Intron|MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000280285.5_Intron|RNU6-1079P_ENST00000362861.1_RNA	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	520	Interaction with MTM1.|Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AATCCCACACGGTGAGCAGAT	0.502																																						dbGAP											0													129.0	121.0	124.0					5																	32233993		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1560C>G	5.37:g.32233993G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Silent	SNP	pfam_Myotubularin_assoc	p.T520	ENST00000382142.3	37	c.1560	CCDS34138.1	5																																																																																			MTMR12	-	NULL	ENSG00000150712		0.502	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR12	HGNC	protein_coding	OTTHUMT00000366579.1	202	0.00	0	G	NM_019061		32233993	32233993	-1	no_errors	ENST00000382142	ensembl	human	known	69_37n	silent	285	21.21	77	SNP	0.995	C
MUT	4594	genome.wustl.edu	37	6	49416584	49416584	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr6:49416584T>C	ENST00000274813.3	-	7	1516	c.1389A>G	c.(1387-1389)atA>atG	p.I463M		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	463					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGTTTAGGTATTCCCTCAG	0.323																																						dbGAP											0													146.0	144.0	145.0					6																	49416584		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1389A>G	6.37:g.49416584T>C	ENSP00000274813:p.Ile463Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C	p.I463M	ENST00000274813.3	37	c.1389	CCDS4924.1	6	.	.	.	.	.	.	.	.	.	.	T	9.436	1.086920	0.20390	.	.	ENSG00000146085	ENST00000274813	D	0.98345	-4.88	5.75	-0.853	0.10709	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.097716	0.64402	D	0.000002	D	0.82751	0.5105	N	0.02916	-0.46	0.58432	D	0.999996	B	0.22276	0.067	B	0.31101	0.124	T	0.74408	-0.3675	10	0.09084	T	0.74	-4.5185	2.6229	0.04921	0.2891:0.0771:0.427:0.2068	.	463	P22033	MUTA_HUMAN	M	463	ENSP00000274813:I463M	ENSP00000274813:I463M	I	-	3	3	MUT	49524543	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.294000	0.19047	0.409000	0.25649	0.528000	0.53228	ATA	MUT	-	pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat	ENSG00000146085		0.323	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUT	HGNC	protein_coding	OTTHUMT00000040854.1	440	0.00	0	T			49416584	49416584	-1	no_errors	ENST00000274813	ensembl	human	known	69_37n	missense	209	29.29	87	SNP	0.991	C
MUT	4594	genome.wustl.edu	37	6	49416584	49416584	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr6:49416584T>C	ENST00000274813.3	-	7	1516	c.1389A>G	c.(1387-1389)atA>atG	p.I463M		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	463					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGTTTAGGTATTCCCTCAG	0.323																																						dbGAP											0													146.0	144.0	145.0					6																	49416584		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1389A>G	6.37:g.49416584T>C	ENSP00000274813:p.Ile463Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C	p.I463M	ENST00000274813.3	37	c.1389	CCDS4924.1	6	.	.	.	.	.	.	.	.	.	.	T	9.436	1.086920	0.20390	.	.	ENSG00000146085	ENST00000274813	D	0.98345	-4.88	5.75	-0.853	0.10709	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.097716	0.64402	D	0.000002	D	0.82751	0.5105	N	0.02916	-0.46	0.58432	D	0.999996	B	0.22276	0.067	B	0.31101	0.124	T	0.74408	-0.3675	10	0.09084	T	0.74	-4.5185	2.6229	0.04921	0.2891:0.0771:0.427:0.2068	.	463	P22033	MUTA_HUMAN	M	463	ENSP00000274813:I463M	ENSP00000274813:I463M	I	-	3	3	MUT	49524543	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.294000	0.19047	0.409000	0.25649	0.528000	0.53228	ATA	MUT	-	pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat	ENSG00000146085		0.323	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUT	HGNC	protein_coding	OTTHUMT00000040854.1	328	0.00	0	T			49416584	49416584	-1	no_errors	ENST00000274813	ensembl	human	known	69_37n	missense	209	29.29	87	SNP	0.991	C
NACAD	23148	genome.wustl.edu	37	7	45123859	45123859	+	Silent	SNP	G	G	A	rs72497819	byFrequency	TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr7:45123859G>A	ENST00000490531.2	-	2	1939	c.1920C>T	c.(1918-1920)tcC>tcT	p.S640S		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	640					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						GTGTCATAACGGAGTCCTGGG	0.602													G|||	1213	0.242212	0.1505	0.3415	5008	,	,		16852	0.2391		0.2853	False		,,,				2504	0.2546					dbGAP											0													5.0	6.0	5.0					7																	45123859		630	1536	2166	-	-	-	SO:0001819	synonymous_variant	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.1920C>T	7.37:g.45123859G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.S640	ENST00000490531.2	37	c.1920	CCDS47582.1	7																																																																																			NACAD	-	NULL	ENSG00000136274		0.602	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	27	0.00	0	G	NM_001146334		45123859	45123859	-1	no_errors	ENST00000490531	ensembl	human	known	69_37n	silent	51	21.54	14	SNP	0.000	A
OPRD1	4985	genome.wustl.edu	37	1	29189416	29189416	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr1:29189416C>T	ENST00000234961.2	+	3	982	c.740C>T	c.(739-741)tCg>tTg	p.S247L		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	247					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CGCCTGCTGTCGGGCTCCAAG	0.632																																						dbGAP											0													77.0	63.0	67.0					1																	29189416		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.740C>T	1.37:g.29189416C>T	ENSP00000234961:p.Ser247Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B5B0B8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_Somatstn_rcpt,prints_P2_purnocptor,prints_NPY_rcpt	p.S247L	ENST00000234961.2	37	c.740	CCDS329.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828392	0.90955	.	.	ENSG00000116329	ENST00000234961	T	0.41400	1.0	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	M	0.73753	2.245	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	T	0.68081	-0.5503	10	0.72032	D	0.01	.	14.2291	0.65879	0.0:1.0:0.0:0.0	.	247	P41143	OPRD_HUMAN	L	247	ENSP00000234961:S247L	ENSP00000234961:S247L	S	+	2	0	OPRD1	29062003	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.651000	0.83577	2.205000	0.71048	0.462000	0.41574	TCG	OPRD1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Opioid_rcpt,prints_Neuropept_W_rcpt	ENSG00000116329		0.632	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPRD1	HGNC	protein_coding	OTTHUMT00000010330.1	112	0.00	0	C	NM_000911		29189416	29189416	+1	no_errors	ENST00000234961	ensembl	human	known	69_37n	missense	68	37.04	40	SNP	1.000	T
OPRD1	4985	genome.wustl.edu	37	1	29189416	29189416	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr1:29189416C>T	ENST00000234961.2	+	3	982	c.740C>T	c.(739-741)tCg>tTg	p.S247L		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	247					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CGCCTGCTGTCGGGCTCCAAG	0.632																																						dbGAP											0													77.0	63.0	67.0					1																	29189416		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.740C>T	1.37:g.29189416C>T	ENSP00000234961:p.Ser247Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B5B0B8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_Somatstn_rcpt,prints_P2_purnocptor,prints_NPY_rcpt	p.S247L	ENST00000234961.2	37	c.740	CCDS329.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828392	0.90955	.	.	ENSG00000116329	ENST00000234961	T	0.41400	1.0	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	M	0.73753	2.245	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	T	0.68081	-0.5503	10	0.72032	D	0.01	.	14.2291	0.65879	0.0:1.0:0.0:0.0	.	247	P41143	OPRD_HUMAN	L	247	ENSP00000234961:S247L	ENSP00000234961:S247L	S	+	2	0	OPRD1	29062003	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.651000	0.83577	2.205000	0.71048	0.462000	0.41574	TCG	OPRD1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Opioid_rcpt,prints_Neuropept_W_rcpt	ENSG00000116329		0.632	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPRD1	HGNC	protein_coding	OTTHUMT00000010330.1	35	0.00	0	C	NM_000911		29189416	29189416	+1	no_errors	ENST00000234961	ensembl	human	known	69_37n	missense	68	37.04	40	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, 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.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	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"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	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.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	375	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	180	22.41	52	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, 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.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	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"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	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.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	316	0.32	1	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	180	22.41	52	SNP	1.000	A
RLTPR	146206	genome.wustl.edu	37	16	67685827	67685827	+	Silent	SNP	C	C	T			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr16:67685827C>T	ENST00000334583.6	+	26	2920	c.2592C>T	c.(2590-2592)gaC>gaT	p.D864D	RLTPR_ENST00000545661.1_Silent_p.D828D	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	864					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCCTTAGGGACATGCGGCTAT	0.607																																						dbGAP											0													115.0	119.0	118.0					16																	67685827		2083	4209	6292	-	-	-	SO:0001819	synonymous_variant	0			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2592C>T	16.37:g.67685827C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B8X2Z3	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.D864	ENST00000334583.6	37	c.2592	CCDS45513.1	16																																																																																			RLTPR	-	NULL	ENSG00000159753		0.607	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	163	0.00	0	C	NM_001013838		67685827	67685827	+1	no_errors	ENST00000334583	ensembl	human	known	69_37n	silent	93	41.51	66	SNP	0.968	T
RLTPR	146206	genome.wustl.edu	37	16	67685827	67685827	+	Silent	SNP	C	C	T			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr16:67685827C>T	ENST00000334583.6	+	26	2920	c.2592C>T	c.(2590-2592)gaC>gaT	p.D864D	RLTPR_ENST00000545661.1_Silent_p.D828D	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	864					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCCTTAGGGACATGCGGCTAT	0.607																																						dbGAP											0													115.0	119.0	118.0					16																	67685827		2083	4209	6292	-	-	-	SO:0001819	synonymous_variant	0			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2592C>T	16.37:g.67685827C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B8X2Z3	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.D864	ENST00000334583.6	37	c.2592	CCDS45513.1	16																																																																																			RLTPR	-	NULL	ENSG00000159753		0.607	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	70	0.00	0	C	NM_001013838		67685827	67685827	+1	no_errors	ENST00000334583	ensembl	human	known	69_37n	silent	93	41.51	66	SNP	0.968	T
SYCP1	6847	genome.wustl.edu	37	1	115454161	115454161	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr1:115454161C>T	ENST00000369522.3	+	18	1727	c.1487C>T	c.(1486-1488)tCa>tTa	p.S496L	SYCP1_ENST00000369518.1_Missense_Mutation_p.S496L	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	496				IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586). {ECO:0000305}.	chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTATTATTCAAAAGAGGTT	0.294																																						dbGAP											0													67.0	69.0	68.0					1																	115454161		2202	4288	6490	-	-	-	SO:0001583	missense	0			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1487C>T	1.37:g.115454161C>T	ENSP00000358535:p.Ser496Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O14963|Q5VXJ6	Missense_Mutation	SNP	pfam_SCP-1	p.S496L	ENST00000369522.3	37	c.1487	CCDS879.1	1	.	.	.	.	.	.	.	.	.	.	C	8.923	0.961595	0.18583	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.40756	1.02;1.02;1.02	5.6	-0.36	0.12568	.	0.442567	0.21796	N	0.068983	T	0.07683	0.0193	N	0.12746	0.255	0.32331	N	0.561122	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.28808	-1.0032	10	0.23302	T	0.38	0.2552	7.9002	0.29729	0.0:0.3971:0.0:0.6029	.	496;496	B7ZLS9;Q15431	.;SYCP1_HUMAN	L	496	ENSP00000358535:S496L;ENSP00000410011:S496L;ENSP00000358531:S496L	ENSP00000358531:S496L	S	+	2	0	SYCP1	115255684	0.986000	0.35501	0.881000	0.34555	0.095000	0.18619	0.580000	0.23803	0.041000	0.15688	0.585000	0.79938	TCA	SYCP1	-	pfam_SCP-1	ENSG00000198765		0.294	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1	370	0.00	0	C	NM_003176		115454161	115454161	+1	no_errors	ENST00000369518	ensembl	human	known	69_37n	missense	210	28.08	82	SNP	0.953	T
SYCP1	6847	genome.wustl.edu	37	1	115454161	115454161	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr1:115454161C>T	ENST00000369522.3	+	18	1727	c.1487C>T	c.(1486-1488)tCa>tTa	p.S496L	SYCP1_ENST00000369518.1_Missense_Mutation_p.S496L	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	496				IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586). {ECO:0000305}.	chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTATTATTCAAAAGAGGTT	0.294																																						dbGAP											0													67.0	69.0	68.0					1																	115454161		2202	4288	6490	-	-	-	SO:0001583	missense	0			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1487C>T	1.37:g.115454161C>T	ENSP00000358535:p.Ser496Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O14963|Q5VXJ6	Missense_Mutation	SNP	pfam_SCP-1	p.S496L	ENST00000369522.3	37	c.1487	CCDS879.1	1	.	.	.	.	.	.	.	.	.	.	C	8.923	0.961595	0.18583	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.40756	1.02;1.02;1.02	5.6	-0.36	0.12568	.	0.442567	0.21796	N	0.068983	T	0.07683	0.0193	N	0.12746	0.255	0.32331	N	0.561122	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.28808	-1.0032	10	0.23302	T	0.38	0.2552	7.9002	0.29729	0.0:0.3971:0.0:0.6029	.	496;496	B7ZLS9;Q15431	.;SYCP1_HUMAN	L	496	ENSP00000358535:S496L;ENSP00000410011:S496L;ENSP00000358531:S496L	ENSP00000358531:S496L	S	+	2	0	SYCP1	115255684	0.986000	0.35501	0.881000	0.34555	0.095000	0.18619	0.580000	0.23803	0.041000	0.15688	0.585000	0.79938	TCA	SYCP1	-	pfam_SCP-1	ENSG00000198765		0.294	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1	356	0.00	0	C	NM_003176		115454161	115454161	+1	no_errors	ENST00000369518	ensembl	human	known	69_37n	missense	210	28.08	82	SNP	0.953	T
TLL2	7093	genome.wustl.edu	37	10	98129947	98129947	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr10:98129947C>T	ENST00000357947.3	-	20	3013	c.2788G>A	c.(2788-2790)Ggc>Agc	p.G930S		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	930	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGCTCCACGCCGTAGCCGTCC	0.612																																						dbGAP											0													99.0	81.0	87.0					10																	98129947		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2788G>A	10.37:g.98129947C>T	ENSP00000350630:p.Gly930Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.G930S	ENST00000357947.3	37	c.2788	CCDS7449.1	10	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821326	0.71028	.	.	ENSG00000095587	ENST00000357947	T	0.16073	2.37	4.04	3.11	0.35812	CUB (5);	0.000000	0.46442	D	0.000282	T	0.17959	0.0431	L	0.38692	1.165	0.58432	D	0.999999	P	0.50369	0.934	P	0.51101	0.659	T	0.02431	-1.1160	10	0.07482	T	0.82	.	13.0226	0.58796	0.0:0.8366:0.1634:0.0	.	930	Q9Y6L7	TLL2_HUMAN	S	930	ENSP00000350630:G930S	ENSP00000350630:G930S	G	-	1	0	TLL2	98119937	0.984000	0.35163	0.901000	0.35422	0.885000	0.51271	2.540000	0.45727	1.010000	0.39314	0.511000	0.50034	GGC	TLL2	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB	ENSG00000095587		0.612	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL2	HGNC	protein_coding	OTTHUMT00000049608.1	74	0.00	0	C			98129947	98129947	-1	no_errors	ENST00000357947	ensembl	human	known	69_37n	missense	62	19.48	15	SNP	1.000	T
TLL2	7093	genome.wustl.edu	37	10	98129947	98129947	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr10:98129947C>T	ENST00000357947.3	-	20	3013	c.2788G>A	c.(2788-2790)Ggc>Agc	p.G930S		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	930	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGCTCCACGCCGTAGCCGTCC	0.612																																						dbGAP											0													99.0	81.0	87.0					10																	98129947		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2788G>A	10.37:g.98129947C>T	ENSP00000350630:p.Gly930Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.G930S	ENST00000357947.3	37	c.2788	CCDS7449.1	10	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821326	0.71028	.	.	ENSG00000095587	ENST00000357947	T	0.16073	2.37	4.04	3.11	0.35812	CUB (5);	0.000000	0.46442	D	0.000282	T	0.17959	0.0431	L	0.38692	1.165	0.58432	D	0.999999	P	0.50369	0.934	P	0.51101	0.659	T	0.02431	-1.1160	10	0.07482	T	0.82	.	13.0226	0.58796	0.0:0.8366:0.1634:0.0	.	930	Q9Y6L7	TLL2_HUMAN	S	930	ENSP00000350630:G930S	ENSP00000350630:G930S	G	-	1	0	TLL2	98119937	0.984000	0.35163	0.901000	0.35422	0.885000	0.51271	2.540000	0.45727	1.010000	0.39314	0.511000	0.50034	GGC	TLL2	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB	ENSG00000095587		0.612	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL2	HGNC	protein_coding	OTTHUMT00000049608.1	51	0.00	0	C			98129947	98129947	-1	no_errors	ENST00000357947	ensembl	human	known	69_37n	missense	62	19.48	15	SNP	1.000	T
TRIM74	378108	genome.wustl.edu	37	7	72436307	72436307	+	Missense_Mutation	SNP	C	C	T	rs3852229		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr7:72436307C>T	ENST00000285805.3	-	2	581	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TRIM74_ENST00000395244.1_Missense_Mutation_p.V128I	NM_198853.1	NP_942150.1	Q86UV6	TRI74_HUMAN	tripartite motif containing 74	128				V -> I (in Ref. 3; AAH33871). {ECO:0000305}.		intracellular (GO:0005622)	zinc ion binding (GO:0008270)			prostate(1)	1						CGGCTGCAGACGGTGGAGACG	0.672																																						dbGAP											0													3.0	3.0	3.0					7																	72436307		847	2073	2920	-	-	-	SO:0001583	missense	0			AF498999	CCDS5545.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000155428	ENSG00000155428		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	17453	protein-coding gene	gene with protein product		612550	"""tripartite motif-containing 50C"", ""tripartite motif-containing 74"""	TRIM50C			Standard	NM_198853		Approved	MGC45440		Q86UV6	OTTHUMG00000129851	ENST00000285805.3:c.382G>A	7.37:g.72436307C>T	ENSP00000285805:p.Val128Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WP46	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.V128I	ENST00000285805.3	37	c.382	CCDS5545.1	7	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315663	0.23908	.	.	ENSG00000155428	ENST00000395244;ENST00000285805	T;T	0.57107	0.42;0.42	1.93	1.93	0.25924	.	0.119478	0.36519	N	0.002554	T	0.37376	0.1001	N	0.24115	0.695	0.23351	N	0.997853	D	0.53462	0.96	B	0.43225	0.412	T	0.31251	-0.9950	10	0.46703	T	0.11	.	11.4209	0.49980	0.0:1.0:0.0:0.0	.	128	Q86UV6-2	.	I	128	ENSP00000378665:V128I;ENSP00000285805:V128I	ENSP00000285805:V128I	V	-	1	0	TRIM74	72074243	0.146000	0.22672	0.997000	0.53966	0.212000	0.24457	1.560000	0.36331	1.412000	0.46977	0.184000	0.17185	GTC	TRIM74	-	NULL	ENSG00000155428		0.672	TRIM74-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM74	HGNC	protein_coding	OTTHUMT00000252093.1	10	0.00	0	C	NM_198853		72436307	72436307	-1	no_errors	ENST00000285805	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	1.000	T
TRMT5	57570	genome.wustl.edu	37	14	61444282	61444282	+	Nonsense_Mutation	SNP	G	G	A	rs200346213		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr14:61444282G>A	ENST00000261249.6	-	3	1126	c.742C>T	c.(742-744)Cga>Tga	p.R248*	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5											NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TGGAAATTTCGGTACATATTG	0.303																																						dbGAP											0													78.0	80.0	80.0					14																	61444282		2203	4294	6497	-	-	-	SO:0001587	stop_gained	0			AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"""tRNA (guanine(37)-N1)-methyltransferase"""	611023	"""KIAA1393"", ""tRNA methyltransferase 5 homolog (S. cerevisiae)"""	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.742C>T	14.37:g.61444282G>A	ENSP00000261249:p.Arg248*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_tRNA_Trfase_Trm5/Tyw2	p.R248*	ENST00000261249.6	37	c.742	CCDS32092.1	14	.	.	.	.	.	.	.	.	.	.	G	39	7.337196	0.98221	.	.	ENSG00000126814	ENST00000261249	.	.	.	5.05	3.0	0.34707	.	0.051654	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6272	12.8755	0.57988	0.0:0.0:0.5493:0.4507	.	.	.	.	X	248	.	ENSP00000261249:R248X	R	-	1	2	TRMT5	60514035	1.000000	0.71417	0.997000	0.53966	0.915000	0.54546	2.455000	0.44988	1.288000	0.44600	0.491000	0.48974	CGA	TRMT5	-	pfam_tRNA_Trfase_Trm5/Tyw2	ENSG00000126814		0.303	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT5	HGNC	protein_coding	OTTHUMT00000412831.1	355	0.00	0	G	NM_02081		61444282	61444282	-1	no_errors	ENST00000261249	ensembl	human	known	69_37n	nonsense	235	26.56	85	SNP	1.000	A
TRMT5	57570	genome.wustl.edu	37	14	61444282	61444282	+	Nonsense_Mutation	SNP	G	G	A	rs200346213		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr14:61444282G>A	ENST00000261249.6	-	3	1126	c.742C>T	c.(742-744)Cga>Tga	p.R248*	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5											NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TGGAAATTTCGGTACATATTG	0.303																																						dbGAP											0													78.0	80.0	80.0					14																	61444282		2203	4294	6497	-	-	-	SO:0001587	stop_gained	0			AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"""tRNA (guanine(37)-N1)-methyltransferase"""	611023	"""KIAA1393"", ""tRNA methyltransferase 5 homolog (S. cerevisiae)"""	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.742C>T	14.37:g.61444282G>A	ENSP00000261249:p.Arg248*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_tRNA_Trfase_Trm5/Tyw2	p.R248*	ENST00000261249.6	37	c.742	CCDS32092.1	14	.	.	.	.	.	.	.	.	.	.	G	39	7.337196	0.98221	.	.	ENSG00000126814	ENST00000261249	.	.	.	5.05	3.0	0.34707	.	0.051654	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6272	12.8755	0.57988	0.0:0.0:0.5493:0.4507	.	.	.	.	X	248	.	ENSP00000261249:R248X	R	-	1	2	TRMT5	60514035	1.000000	0.71417	0.997000	0.53966	0.915000	0.54546	2.455000	0.44988	1.288000	0.44600	0.491000	0.48974	CGA	TRMT5	-	pfam_tRNA_Trfase_Trm5/Tyw2	ENSG00000126814		0.303	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT5	HGNC	protein_coding	OTTHUMT00000412831.1	301	0.66	2	G	NM_02081		61444282	61444282	-1	no_errors	ENST00000261249	ensembl	human	known	69_37n	nonsense	235	26.56	85	SNP	1.000	A
UBE3D	90025	genome.wustl.edu	37	6	83667047	83667047	+	Missense_Mutation	SNP	C	C	T	rs557165335		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chr6:83667047C>T	ENST00000369747.3	-	9	1255	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	378	HECT-like.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										GGAATTCACACGGCGAAGGGA	0.463													T|||	1	0.000199681	0.0	0.0	5008	,	,		17808	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													118.0	97.0	104.0					6																	83667047		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.1133G>A	6.37:g.83667047C>T	ENSP00000358762:p.Arg378His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	pfam_UBQ-conj_enz_E2-bd_prot	p.R378H	ENST00000369747.3	37	c.1133	CCDS34491.1	6	.	.	.	.	.	.	.	.	.	.	T	0.816	-0.750263	0.03041	.	.	ENSG00000118420	ENST00000369747	T	0.28895	1.59	5.57	-8.9	0.00782	.	0.689394	0.16128	N	0.228309	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	0.999996	B	0.06786	0.001	B	0.06405	0.002	T	0.27331	-1.0077	10	0.15499	T	0.54	10.6038	10.3705	0.44051	0.2054:0.6096:0.0:0.1851	.	378	Q7Z6J8	UB2CB_HUMAN	H	378	ENSP00000358762:R378H	ENSP00000358762:R378H	R	-	2	0	UBE2CBP	83723766	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-1.325000	0.02687	-2.392000	0.00585	-1.390000	0.01156	CGT	UBE3D	-	pfam_UBQ-conj_enz_E2-bd_prot	ENSG00000118420		0.463	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3D	HGNC	protein_coding	OTTHUMT00000041347.7	206	0.48	1	C	NM_198920		83667047	83667047	-1	no_errors	ENST00000369747	ensembl	human	known	69_37n	missense	128	21.95	36	SNP	0.000	T
UBE3D	90025	genome.wustl.edu	37	6	83667047	83667047	+	Missense_Mutation	SNP	C	C	T	rs557165335		TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chr6:83667047C>T	ENST00000369747.3	-	9	1255	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	378	HECT-like.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										GGAATTCACACGGCGAAGGGA	0.463													T|||	1	0.000199681	0.0	0.0	5008	,	,		17808	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													118.0	97.0	104.0					6																	83667047		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.1133G>A	6.37:g.83667047C>T	ENSP00000358762:p.Arg378His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	pfam_UBQ-conj_enz_E2-bd_prot	p.R378H	ENST00000369747.3	37	c.1133	CCDS34491.1	6	.	.	.	.	.	.	.	.	.	.	T	0.816	-0.750263	0.03041	.	.	ENSG00000118420	ENST00000369747	T	0.28895	1.59	5.57	-8.9	0.00782	.	0.689394	0.16128	N	0.228309	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	0.999996	B	0.06786	0.001	B	0.06405	0.002	T	0.27331	-1.0077	10	0.15499	T	0.54	10.6038	10.3705	0.44051	0.2054:0.6096:0.0:0.1851	.	378	Q7Z6J8	UB2CB_HUMAN	H	378	ENSP00000358762:R378H	ENSP00000358762:R378H	R	-	2	0	UBE2CBP	83723766	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-1.325000	0.02687	-2.392000	0.00585	-1.390000	0.01156	CGT	UBE3D	-	pfam_UBQ-conj_enz_E2-bd_prot	ENSG00000118420		0.463	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3D	HGNC	protein_coding	OTTHUMT00000041347.7	120	0.00	0	C	NM_198920		83667047	83667047	-1	no_errors	ENST00000369747	ensembl	human	known	69_37n	missense	128	21.95	36	SNP	0.000	T
ZNF41	7592	genome.wustl.edu	37	X	47326822	47326822	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-11A-31D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	527161e1-3015-4b27-9f4b-53d6d2a05079	g.chrX:47326822C>A	ENST00000377065.4	-	2	698	c.59G>T	c.(58-60)gGc>gTc	p.G20V	ZNF41_ENST00000313116.7_Missense_Mutation_p.G20V|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Missense_Mutation_p.A17S	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ACATGAGCTGCCACGTCCCTC	0.617																																						dbGAP											0													39.0	31.0	33.0					X																	47326822		2198	4292	6490	-	-	-	SO:0001583	missense	0			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.59G>T	X.37:g.47326822C>A	ENSP00000366265:p.Gly20Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	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.A17S	ENST00000377065.4	37	c.49	CCDS14279.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.43|12.43	1.937134|1.937134	0.34189|0.34189	.|.	.|.	ENSG00000147124|ENSG00000147124	ENST00000397050;ENST00000432977|ENST00000313116;ENST00000377065	T;T|T;T	0.06528|0.07444	3.29;5.93|3.19;3.19	3.95|3.95	3.09|3.09	0.35607|0.35607	.|.	.|.	.|.	.|.	.|.	T|T	0.07143|0.07143	0.0181|0.0181	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|P;D;D	0.28971|0.57899	0.229;0.229|0.911;0.981;0.967	B;B|P;P;P	0.29176|0.53689	0.099;0.099|0.628;0.732;0.543	T|T	0.33727|0.33727	-0.9857|-0.9857	9|9	0.02654|0.30078	T|T	1|0.28	.|.	6.5051|6.5051	0.22190|0.22190	0.0:0.8667:0.0:0.1333|0.0:0.8667:0.0:0.1333	.|.	17;17|20;20;20	P51814-2;P51814-3|P51814-6;P51814-5;P51814	.;.|.;.;ZNF41_HUMAN	S|V	17|20	ENSP00000380243:A17S;ENSP00000390385:A17S|ENSP00000315173:G20V;ENSP00000366265:G20V	ENSP00000380243:A17S|ENSP00000315173:G20V	A|G	-|-	1|2	0|0	ZNF41|ZNF41	47211766|47211766	0.230000|0.230000	0.23740|0.23740	0.003000|0.003000	0.11579|0.11579	0.582000|0.582000	0.36321|0.36321	1.065000|1.065000	0.30592|0.30592	1.013000|1.013000	0.39391|0.39391	0.600000|0.600000	0.82982|0.82982	GCA|GGC	ZNF41	-	NULL	ENSG00000147124		0.617	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	83	0.00	0	C	NM_153380		47326822	47326822	-1	no_errors	ENST00000397050	ensembl	human	known	69_37n	missense	65	21.69	18	SNP	0.002	A
ZNF41	7592	genome.wustl.edu	37	X	47326822	47326822	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A153-01A-12D-A12B-09	TCGA-E2-A153-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5087c0d3-3b55-4713-a448-4869ffccdde5	66529b84-d110-45b3-acb9-fe08f97a7cce	g.chrX:47326822C>A	ENST00000377065.4	-	2	698	c.59G>T	c.(58-60)gGc>gTc	p.G20V	ZNF41_ENST00000313116.7_Missense_Mutation_p.G20V|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Missense_Mutation_p.A17S	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ACATGAGCTGCCACGTCCCTC	0.617																																						dbGAP											0													39.0	31.0	33.0					X																	47326822		2198	4292	6490	-	-	-	SO:0001583	missense	0			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.59G>T	X.37:g.47326822C>A	ENSP00000366265:p.Gly20Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	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.A17S	ENST00000377065.4	37	c.49	CCDS14279.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.43|12.43	1.937134|1.937134	0.34189|0.34189	.|.	.|.	ENSG00000147124|ENSG00000147124	ENST00000397050;ENST00000432977|ENST00000313116;ENST00000377065	T;T|T;T	0.06528|0.07444	3.29;5.93|3.19;3.19	3.95|3.95	3.09|3.09	0.35607|0.35607	.|.	.|.	.|.	.|.	.|.	T|T	0.07143|0.07143	0.0181|0.0181	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|P;D;D	0.28971|0.57899	0.229;0.229|0.911;0.981;0.967	B;B|P;P;P	0.29176|0.53689	0.099;0.099|0.628;0.732;0.543	T|T	0.33727|0.33727	-0.9857|-0.9857	9|9	0.02654|0.30078	T|T	1|0.28	.|.	6.5051|6.5051	0.22190|0.22190	0.0:0.8667:0.0:0.1333|0.0:0.8667:0.0:0.1333	.|.	17;17|20;20;20	P51814-2;P51814-3|P51814-6;P51814-5;P51814	.;.|.;.;ZNF41_HUMAN	S|V	17|20	ENSP00000380243:A17S;ENSP00000390385:A17S|ENSP00000315173:G20V;ENSP00000366265:G20V	ENSP00000380243:A17S|ENSP00000315173:G20V	A|G	-|-	1|2	0|0	ZNF41|ZNF41	47211766|47211766	0.230000|0.230000	0.23740|0.23740	0.003000|0.003000	0.11579|0.11579	0.582000|0.582000	0.36321|0.36321	1.065000|1.065000	0.30592|0.30592	1.013000|1.013000	0.39391|0.39391	0.600000|0.600000	0.82982|0.82982	GCA|GGC	ZNF41	-	NULL	ENSG00000147124		0.617	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	40	0.00	0	C	NM_153380		47326822	47326822	-1	no_errors	ENST00000397050	ensembl	human	known	69_37n	missense	65	21.69	18	SNP	0.002	A
