#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABI1	10006	genome.wustl.edu	37	10	27040638	27040638	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr10:27040638G>A	ENST00000376142.2	-	11	1311	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S	ABI1_ENST00000376139.2_Missense_Mutation_p.P382S|ABI1_ENST00000376140.3_Missense_Mutation_p.P387S|ABI1_ENST00000376170.4_Missense_Mutation_p.P357S|ABI1_ENST00000376134.3_Missense_Mutation_p.P388S|ABI1_ENST00000536334.1_Missense_Mutation_p.P300S|ABI1_ENST00000359188.4_Missense_Mutation_p.P386S|ABI1_ENST00000376138.3_Missense_Mutation_p.P358S|ABI1_ENST00000376137.4_Missense_Mutation_p.P329S|ABI1_ENST00000490841.2_Missense_Mutation_p.P235S|ABI1_ENST00000346832.5_Missense_Mutation_p.P402S|ABI1_ENST00000355394.4_Missense_Mutation_p.P415S|ABI1_ENST00000376160.1_Missense_Mutation_p.P381S|ABI1_ENST00000376166.1_Missense_Mutation_p.P352S	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	414	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTGGTGGTGGGGGAGGTGGA	0.478																																						dbGAP											0													107.0	114.0	112.0					10																	27040638		2203	4300	6503	-	-	-	SO:0001583	missense	0			U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.1240C>T	10.37:g.27040638G>A	ENSP00000365312:p.Pro414Ser		A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.P415S	ENST00000376142.2	37	c.1243	CCDS7150.1	10	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522965	0.64747	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376137;ENST00000536334;ENST00000490841;ENST00000376140	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	2.31;2.31;2.31;0.93;0.92;0.93;0.96;1.0;2.31;0.81;0.98;2.31;0.87;0.93	5.18	5.18	0.71444	Src homology-3 domain (1);	0.092947	0.85682	N	0.000000	T	0.70561	0.3238	M	0.77103	2.36	0.58432	D	0.999996	P;P;P;P;B;D;D;D;D;B;D;D;D	0.89917	0.9;0.759;0.759;0.939;0.415;0.967;0.997;1.0;1.0;0.373;1.0;1.0;0.994	B;B;B;P;B;P;D;D;D;B;D;D;P	0.91635	0.245;0.245;0.245;0.565;0.132;0.698;0.986;0.999;0.999;0.221;0.987;0.997;0.802	T	0.71530	-0.4565	10	0.46703	T	0.11	-6.8213	18.6488	0.91421	0.0:0.0:1.0:0.0	.	299;328;235;294;224;352;382;386;402;358;382;387;414	B6VEX4;B6VEX3;B4DQ58;Q8IZP0-10;B4DKX2;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;.;.;.;.;ABI1_HUMAN	S	358;357;352;381;414;386;382;415;402;388;329;300;235;387	ENSP00000365308:P358S;ENSP00000365340:P357S;ENSP00000365336:P352S;ENSP00000365330:P381S;ENSP00000365312:P414S;ENSP00000352114:P386S;ENSP00000365309:P382S;ENSP00000347555:P415S;ENSP00000279599:P402S;ENSP00000365304:P388S;ENSP00000365307:P329S;ENSP00000439646:P300S;ENSP00000440101:P235S;ENSP00000365310:P387S	ENSP00000279599:P402S	P	-	1	0	ABI1	27080644	1.000000	0.71417	0.227000	0.23927	0.148000	0.21650	9.813000	0.99286	2.572000	0.86782	0.563000	0.77884	CCA	ABI1	-	superfamily_SH3_domain	ENSG00000136754		0.478	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI1	HGNC	protein_coding	OTTHUMT00000047287.1	86	0.00	0	G	NM_005470		27040638	27040638	-1	no_errors	ENST00000355394	ensembl	human	known	69_37n	missense	63	12.50	9	SNP	0.999	A
ABI1	10006	genome.wustl.edu	37	10	27040638	27040638	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr10:27040638G>A	ENST00000376142.2	-	11	1311	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S	ABI1_ENST00000376139.2_Missense_Mutation_p.P382S|ABI1_ENST00000376140.3_Missense_Mutation_p.P387S|ABI1_ENST00000376170.4_Missense_Mutation_p.P357S|ABI1_ENST00000376134.3_Missense_Mutation_p.P388S|ABI1_ENST00000536334.1_Missense_Mutation_p.P300S|ABI1_ENST00000359188.4_Missense_Mutation_p.P386S|ABI1_ENST00000376138.3_Missense_Mutation_p.P358S|ABI1_ENST00000376137.4_Missense_Mutation_p.P329S|ABI1_ENST00000490841.2_Missense_Mutation_p.P235S|ABI1_ENST00000346832.5_Missense_Mutation_p.P402S|ABI1_ENST00000355394.4_Missense_Mutation_p.P415S|ABI1_ENST00000376160.1_Missense_Mutation_p.P381S|ABI1_ENST00000376166.1_Missense_Mutation_p.P352S	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	414	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTGGTGGTGGGGGAGGTGGA	0.478																																						dbGAP											0													107.0	114.0	112.0					10																	27040638		2203	4300	6503	-	-	-	SO:0001583	missense	0			U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.1240C>T	10.37:g.27040638G>A	ENSP00000365312:p.Pro414Ser		A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.P415S	ENST00000376142.2	37	c.1243	CCDS7150.1	10	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522965	0.64747	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376137;ENST00000536334;ENST00000490841;ENST00000376140	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	2.31;2.31;2.31;0.93;0.92;0.93;0.96;1.0;2.31;0.81;0.98;2.31;0.87;0.93	5.18	5.18	0.71444	Src homology-3 domain (1);	0.092947	0.85682	N	0.000000	T	0.70561	0.3238	M	0.77103	2.36	0.58432	D	0.999996	P;P;P;P;B;D;D;D;D;B;D;D;D	0.89917	0.9;0.759;0.759;0.939;0.415;0.967;0.997;1.0;1.0;0.373;1.0;1.0;0.994	B;B;B;P;B;P;D;D;D;B;D;D;P	0.91635	0.245;0.245;0.245;0.565;0.132;0.698;0.986;0.999;0.999;0.221;0.987;0.997;0.802	T	0.71530	-0.4565	10	0.46703	T	0.11	-6.8213	18.6488	0.91421	0.0:0.0:1.0:0.0	.	299;328;235;294;224;352;382;386;402;358;382;387;414	B6VEX4;B6VEX3;B4DQ58;Q8IZP0-10;B4DKX2;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;.;.;.;.;ABI1_HUMAN	S	358;357;352;381;414;386;382;415;402;388;329;300;235;387	ENSP00000365308:P358S;ENSP00000365340:P357S;ENSP00000365336:P352S;ENSP00000365330:P381S;ENSP00000365312:P414S;ENSP00000352114:P386S;ENSP00000365309:P382S;ENSP00000347555:P415S;ENSP00000279599:P402S;ENSP00000365304:P388S;ENSP00000365307:P329S;ENSP00000439646:P300S;ENSP00000440101:P235S;ENSP00000365310:P387S	ENSP00000279599:P402S	P	-	1	0	ABI1	27080644	1.000000	0.71417	0.227000	0.23927	0.148000	0.21650	9.813000	0.99286	2.572000	0.86782	0.563000	0.77884	CCA	ABI1	-	superfamily_SH3_domain	ENSG00000136754		0.478	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI1	HGNC	protein_coding	OTTHUMT00000047287.1	56	0.00	0	G	NM_005470		27040638	27040638	-1	no_errors	ENST00000355394	ensembl	human	known	69_37n	missense	63	12.50	9	SNP	0.999	A
ACSL1	2180	genome.wustl.edu	37	4	185678828	185678828	+	Silent	SNP	C	C	T			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr4:185678828C>T	ENST00000515030.1	-	20	2242	c.1917G>A	c.(1915-1917)gtG>gtA	p.V639V	ACSL1_ENST00000437665.3_Silent_p.V468V|ACSL1_ENST00000513317.1_Silent_p.V639V|ACSL1_ENST00000507295.1_Silent_p.V605V|ACSL1_ENST00000454703.2_Silent_p.V468V|ACSL1_ENST00000504342.1_Silent_p.V639V|ACSL1_ENST00000281455.2_Silent_p.V639V			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	639					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCCCAAGTCTCACCATATCTT	0.353																																						dbGAP											0													173.0	180.0	178.0					4																	185678828		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1917G>A	4.37:g.185678828C>T			B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.V639	ENST00000515030.1	37	c.1917	CCDS3839.1	4																																																																																			ACSL1	-	NULL	ENSG00000151726		0.353	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACSL1	HGNC	protein_coding	OTTHUMT00000361112.2	643	0.00	0	C	NM_001995		185678828	185678828	-1	no_errors	ENST00000281455	ensembl	human	known	69_37n	silent	451	20.04	113	SNP	1.000	T
ACSL1	2180	genome.wustl.edu	37	4	185678828	185678828	+	Silent	SNP	C	C	T			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr4:185678828C>T	ENST00000515030.1	-	20	2242	c.1917G>A	c.(1915-1917)gtG>gtA	p.V639V	ACSL1_ENST00000437665.3_Silent_p.V468V|ACSL1_ENST00000513317.1_Silent_p.V639V|ACSL1_ENST00000507295.1_Silent_p.V605V|ACSL1_ENST00000454703.2_Silent_p.V468V|ACSL1_ENST00000504342.1_Silent_p.V639V|ACSL1_ENST00000281455.2_Silent_p.V639V			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	639					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCCCAAGTCTCACCATATCTT	0.353																																						dbGAP											0													173.0	180.0	178.0					4																	185678828		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1917G>A	4.37:g.185678828C>T			B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.V639	ENST00000515030.1	37	c.1917	CCDS3839.1	4																																																																																			ACSL1	-	NULL	ENSG00000151726		0.353	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACSL1	HGNC	protein_coding	OTTHUMT00000361112.2	377	0.00	0	C	NM_001995		185678828	185678828	-1	no_errors	ENST00000281455	ensembl	human	known	69_37n	silent	451	20.04	113	SNP	1.000	T
ALDH1A1	216	genome.wustl.edu	37	9	75533714	75533714	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr9:75533714C>A	ENST00000297785.3	-	8	826	c.772G>T	c.(772-774)Gcc>Tcc	p.A258S	ALDH1A1_ENST00000376939.1_Intron	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	258					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	CTTTTCCCGGCAGCTTCTTTG	0.463																																						dbGAP											0													90.0	88.0	88.0					9																	75533714		2203	4300	6503	-	-	-	SO:0001583	missense	0			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.772G>T	9.37:g.75533714C>A	ENSP00000297785:p.Ala258Ser		O00768|Q5SYR1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	p.A258S	ENST00000297785.3	37	c.772	CCDS6644.1	9	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412580	0.83340	.	.	ENSG00000165092	ENST00000297785;ENST00000428593	T	0.22134	1.97	5.59	4.67	0.58626	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.079586	0.52532	N	0.000078	T	0.27205	0.0667	L	0.32530	0.975	0.80722	D	1	B;B	0.25904	0.084;0.137	B;B	0.42138	0.377;0.314	T	0.11036	-1.0604	10	0.44086	T	0.13	.	15.6073	0.76682	0.1387:0.8613:0.0:0.0	.	179;258	B4DDF8;P00352	.;AL1A1_HUMAN	S	258;272	ENSP00000297785:A258S	ENSP00000297785:A258S	A	-	1	0	ALDH1A1	74723534	1.000000	0.71417	0.988000	0.46212	0.974000	0.67602	5.573000	0.67417	1.317000	0.45149	0.650000	0.86243	GCC	ALDH1A1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	ENSG00000165092		0.463	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A1	HGNC	protein_coding	OTTHUMT00000052679.1	178	0.00	0	C			75533714	75533714	-1	no_errors	ENST00000297785	ensembl	human	known	69_37n	missense	106	17.19	22	SNP	1.000	A
ALDH1A1	216	genome.wustl.edu	37	9	75533714	75533714	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr9:75533714C>A	ENST00000297785.3	-	8	826	c.772G>T	c.(772-774)Gcc>Tcc	p.A258S	ALDH1A1_ENST00000376939.1_Intron	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	258					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	CTTTTCCCGGCAGCTTCTTTG	0.463																																						dbGAP											0													90.0	88.0	88.0					9																	75533714		2203	4300	6503	-	-	-	SO:0001583	missense	0			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.772G>T	9.37:g.75533714C>A	ENSP00000297785:p.Ala258Ser		O00768|Q5SYR1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	p.A258S	ENST00000297785.3	37	c.772	CCDS6644.1	9	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412580	0.83340	.	.	ENSG00000165092	ENST00000297785;ENST00000428593	T	0.22134	1.97	5.59	4.67	0.58626	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.079586	0.52532	N	0.000078	T	0.27205	0.0667	L	0.32530	0.975	0.80722	D	1	B;B	0.25904	0.084;0.137	B;B	0.42138	0.377;0.314	T	0.11036	-1.0604	10	0.44086	T	0.13	.	15.6073	0.76682	0.1387:0.8613:0.0:0.0	.	179;258	B4DDF8;P00352	.;AL1A1_HUMAN	S	258;272	ENSP00000297785:A258S	ENSP00000297785:A258S	A	-	1	0	ALDH1A1	74723534	1.000000	0.71417	0.988000	0.46212	0.974000	0.67602	5.573000	0.67417	1.317000	0.45149	0.650000	0.86243	GCC	ALDH1A1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	ENSG00000165092		0.463	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A1	HGNC	protein_coding	OTTHUMT00000052679.1	114	0.00	0	C			75533714	75533714	-1	no_errors	ENST00000297785	ensembl	human	known	69_37n	missense	106	17.19	22	SNP	1.000	A
ARFGEF2	10564	genome.wustl.edu	37	20	47601333	47601333	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr20:47601333G>A	ENST00000371917.4	+	15	2026	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	676	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AACGTCAGTTGAAGACATAGC	0.532																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	dbGAP											0													147.0	130.0	136.0					20																	47601333		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2026G>A	20.37:g.47601333G>A	ENSP00000360985:p.Glu676Lys		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.E676K	ENST00000371917.4	37	c.2026	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445722	0.63178	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.51574	0.7	5.85	5.85	0.93711	Armadillo-type fold (1);SEC7-like (4);	0.270936	0.41712	D	0.000829	T	0.44953	0.1318	L	0.41906	1.305	0.80722	D	1	B	0.33512	0.415	B	0.39068	0.289	T	0.25293	-1.0136	10	0.29301	T	0.29	.	15.6205	0.76802	0.0:0.1368:0.8632:0.0	.	676	Q9Y6D5	BIG2_HUMAN	K	676	ENSP00000360985:E676K	ENSP00000360985:E676K	E	+	1	0	ARFGEF2	47034740	1.000000	0.71417	0.733000	0.30861	0.398000	0.30690	7.884000	0.87274	2.770000	0.95276	0.563000	0.77884	GAA	ARFGEF2	-	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	ENSG00000124198		0.532	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	139	0.00	0	G	NM_006420		47601333	47601333	+1	no_errors	ENST00000371917	ensembl	human	known	69_37n	missense	756	21.58	208	SNP	1.000	A
ARFGEF2	10564	genome.wustl.edu	37	20	47601333	47601333	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr20:47601333G>A	ENST00000371917.4	+	15	2026	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	676	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AACGTCAGTTGAAGACATAGC	0.532																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	dbGAP											0													147.0	130.0	136.0					20																	47601333		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2026G>A	20.37:g.47601333G>A	ENSP00000360985:p.Glu676Lys		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.E676K	ENST00000371917.4	37	c.2026	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445722	0.63178	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.51574	0.7	5.85	5.85	0.93711	Armadillo-type fold (1);SEC7-like (4);	0.270936	0.41712	D	0.000829	T	0.44953	0.1318	L	0.41906	1.305	0.80722	D	1	B	0.33512	0.415	B	0.39068	0.289	T	0.25293	-1.0136	10	0.29301	T	0.29	.	15.6205	0.76802	0.0:0.1368:0.8632:0.0	.	676	Q9Y6D5	BIG2_HUMAN	K	676	ENSP00000360985:E676K	ENSP00000360985:E676K	E	+	1	0	ARFGEF2	47034740	1.000000	0.71417	0.733000	0.30861	0.398000	0.30690	7.884000	0.87274	2.770000	0.95276	0.563000	0.77884	GAA	ARFGEF2	-	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	ENSG00000124198		0.532	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	221	0.00	0	G	NM_006420		47601333	47601333	+1	no_errors	ENST00000371917	ensembl	human	known	69_37n	missense	756	21.58	208	SNP	1.000	A
ATP7A	538	genome.wustl.edu	37	X	77244986	77244986	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chrX:77244986T>C	ENST00000341514.6	+	4	1023	c.868T>C	c.(868-870)Tca>Cca	p.S290P	ATP7A_ENST00000343533.5_Missense_Mutation_p.S290P|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	290	HMA 3. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GCATTGTAAATCATGTGTGTC	0.378																																						dbGAP											0													177.0	158.0	164.0					X																	77244986		2203	4296	6499	-	-	-	SO:0001583	missense	0			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.868T>C	X.37:g.77244986T>C	ENSP00000345728:p.Ser290Pro		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.S290P	ENST00000341514.6	37	c.868	CCDS35339.1	X	.	.	.	.	.	.	.	.	.	.	T	19.30	3.800644	0.70567	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.86865	-2.18;-2.18	5.41	5.41	0.78517	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96571	0.8881	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98074	1.0400	10	0.66056	D	0.02	-6.0234	14.61	0.68510	0.0:0.0:0.0:1.0	.	290;300	Q04656;Q59HD1	ATP7A_HUMAN;.	P	290;290;300	ENSP00000343026:S290P;ENSP00000345728:S290P	ENSP00000345728:S290P	S	+	1	0	ATP7A	77131642	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.931000	0.87625	1.831000	0.53308	0.478000	0.44815	TCA	ATP7A	-	pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd	ENSG00000165240		0.378	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	HGNC	protein_coding	OTTHUMT00000057306.1	460	0.22	1	T	NM_000052		77244986	77244986	+1	no_errors	ENST00000341514	ensembl	human	known	69_37n	missense	297	15.86	56	SNP	1.000	C
ATP7A	538	genome.wustl.edu	37	X	77244986	77244986	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chrX:77244986T>C	ENST00000341514.6	+	4	1023	c.868T>C	c.(868-870)Tca>Cca	p.S290P	ATP7A_ENST00000343533.5_Missense_Mutation_p.S290P|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	290	HMA 3. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GCATTGTAAATCATGTGTGTC	0.378																																						dbGAP											0													177.0	158.0	164.0					X																	77244986		2203	4296	6499	-	-	-	SO:0001583	missense	0			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.868T>C	X.37:g.77244986T>C	ENSP00000345728:p.Ser290Pro		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.S290P	ENST00000341514.6	37	c.868	CCDS35339.1	X	.	.	.	.	.	.	.	.	.	.	T	19.30	3.800644	0.70567	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.86865	-2.18;-2.18	5.41	5.41	0.78517	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96571	0.8881	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98074	1.0400	10	0.66056	D	0.02	-6.0234	14.61	0.68510	0.0:0.0:0.0:1.0	.	290;300	Q04656;Q59HD1	ATP7A_HUMAN;.	P	290;290;300	ENSP00000343026:S290P;ENSP00000345728:S290P	ENSP00000345728:S290P	S	+	1	0	ATP7A	77131642	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.931000	0.87625	1.831000	0.53308	0.478000	0.44815	TCA	ATP7A	-	pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd	ENSG00000165240		0.378	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	HGNC	protein_coding	OTTHUMT00000057306.1	335	0.00	0	T	NM_000052		77244986	77244986	+1	no_errors	ENST00000341514	ensembl	human	known	69_37n	missense	297	15.86	56	SNP	1.000	C
BHLHB9	80823	genome.wustl.edu	37	X	102003966	102003967	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chrX:102003966_102003967insA	ENST00000372735.1	+	4	628_629	c.43_44insA	c.(43-45)gaafs	p.E15fs	BHLHB9_ENST00000448867.1_Frame_Shift_Ins_p.E15fs|BHLHB9_ENST00000361229.4_Frame_Shift_Ins_p.E15fs|BHLHB9_ENST00000457056.1_Frame_Shift_Ins_p.E15fs|BHLHB9_ENST00000447531.1_Frame_Shift_Ins_p.E15fs			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	15					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCCAAAACTGAAAAAAAGGCT	0.5																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.50dupA	X.37:g.102003973_102003973dupA	ENSP00000361820:p.Glu15fs		Q9C0G2	Frame_Shift_Ins	INS	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.A18fs	ENST00000372735.1	37	c.43_44	CCDS14502.1	X																																																																																			BHLHB9	-	NULL	ENSG00000198908		0.500	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHB9	HGNC	protein_coding	OTTHUMT00000057630.1	212	0.00	0	-	NM_030639		102003966	102003967	+1	no_errors	ENST00000361229	ensembl	human	known	69_37n	frame_shift_ins	147	13.02	22	INS	0.000:0.000	A
BMPR2	659	genome.wustl.edu	37	2	203417447	203417447	+	Silent	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr2:203417447G>A	ENST00000374580.4	+	11	1961	c.1422G>A	c.(1420-1422)agG>agA	p.R474R	BMPR2_ENST00000374574.2_Silent_p.R474R	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	474	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGGCAGTGAGGTCACTCAAGG	0.408																																						dbGAP											0													108.0	95.0	99.0					2																	203417447		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1422G>A	2.37:g.203417447G>A			Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R474	ENST00000374580.4	37	c.1422	CCDS33361.1	2																																																																																			BMPR2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000204217		0.408	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	108	0.00	0	G	NM_001204		203417447	203417447	+1	no_errors	ENST00000374580	ensembl	human	known	69_37n	silent	69	36.11	39	SNP	0.992	A
BMPR2	659	genome.wustl.edu	37	2	203417447	203417447	+	Silent	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr2:203417447G>A	ENST00000374580.4	+	11	1961	c.1422G>A	c.(1420-1422)agG>agA	p.R474R	BMPR2_ENST00000374574.2_Silent_p.R474R	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	474	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGGCAGTGAGGTCACTCAAGG	0.408																																						dbGAP											0													108.0	95.0	99.0					2																	203417447		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1422G>A	2.37:g.203417447G>A			Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R474	ENST00000374580.4	37	c.1422	CCDS33361.1	2																																																																																			BMPR2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000204217		0.408	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	83	0.00	0	G	NM_001204		203417447	203417447	+1	no_errors	ENST00000374580	ensembl	human	known	69_37n	silent	69	36.11	39	SNP	0.992	A
BTN3A1	11119	genome.wustl.edu	37	6	26406257	26406257	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr6:26406257G>C	ENST00000289361.6	+	3	574	c.206G>C	c.(205-207)aGt>aCt	p.S69T	BTN3A1_ENST00000414912.2_Missense_Mutation_p.S69T|BTN3A1_ENST00000476549.2_Missense_Mutation_p.S69T|BTN3A1_ENST00000425234.2_Missense_Mutation_p.S69T	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	69	Ig-like V-type 1.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AAGTGGGTGAGTTCCAGCCTA	0.572																																						dbGAP											0													91.0	146.0	128.0					6																	26406257		2201	4298	6499	-	-	-	SO:0001583	missense	0			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.206G>C	6.37:g.26406257G>C	ENSP00000289361:p.Ser69Thr		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.S69T	ENST00000289361.6	37	c.206	CCDS4608.1	6	.	.	.	.	.	.	.	.	.	.	.	16.08	3.021650	0.54576	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000450085;ENST00000425234;ENST00000506698;ENST00000414912	T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;4.25;-0.16	2.06	2.06	0.26882	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.26557	0.0649	N	0.08118	0	0.09310	N	1	P;P;P;P	0.48294	0.906;0.908;0.908;0.906	P;P;P;P	0.46796	0.527;0.473;0.496;0.527	T	0.06862	-1.0803	9	0.87932	D	0	.	4.6746	0.12706	0.1855:0.0:0.8145:0.0	.	69;69;69;69	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	T	69	ENSP00000420010:S69T;ENSP00000289361:S69T;ENSP00000394937:S69T;ENSP00000396684:S69T;ENSP00000427013:S69T;ENSP00000406667:S69T	ENSP00000289361:S69T	S	+	2	0	BTN3A1	26514236	0.009000	0.17119	0.001000	0.08648	0.651000	0.38670	1.736000	0.38187	1.461000	0.47929	0.556000	0.70494	AGT	BTN3A1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000026950		0.572	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3	119	0.00	0	G			26406257	26406257	+1	no_errors	ENST00000289361	ensembl	human	known	69_37n	missense	75	21.05	20	SNP	0.001	C
BTN3A1	11119	genome.wustl.edu	37	6	26406257	26406257	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr6:26406257G>C	ENST00000289361.6	+	3	574	c.206G>C	c.(205-207)aGt>aCt	p.S69T	BTN3A1_ENST00000414912.2_Missense_Mutation_p.S69T|BTN3A1_ENST00000476549.2_Missense_Mutation_p.S69T|BTN3A1_ENST00000425234.2_Missense_Mutation_p.S69T	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	69	Ig-like V-type 1.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AAGTGGGTGAGTTCCAGCCTA	0.572																																						dbGAP											0													91.0	146.0	128.0					6																	26406257		2201	4298	6499	-	-	-	SO:0001583	missense	0			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.206G>C	6.37:g.26406257G>C	ENSP00000289361:p.Ser69Thr		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.S69T	ENST00000289361.6	37	c.206	CCDS4608.1	6	.	.	.	.	.	.	.	.	.	.	.	16.08	3.021650	0.54576	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000450085;ENST00000425234;ENST00000506698;ENST00000414912	T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;4.25;-0.16	2.06	2.06	0.26882	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.26557	0.0649	N	0.08118	0	0.09310	N	1	P;P;P;P	0.48294	0.906;0.908;0.908;0.906	P;P;P;P	0.46796	0.527;0.473;0.496;0.527	T	0.06862	-1.0803	9	0.87932	D	0	.	4.6746	0.12706	0.1855:0.0:0.8145:0.0	.	69;69;69;69	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	T	69	ENSP00000420010:S69T;ENSP00000289361:S69T;ENSP00000394937:S69T;ENSP00000396684:S69T;ENSP00000427013:S69T;ENSP00000406667:S69T	ENSP00000289361:S69T	S	+	2	0	BTN3A1	26514236	0.009000	0.17119	0.001000	0.08648	0.651000	0.38670	1.736000	0.38187	1.461000	0.47929	0.556000	0.70494	AGT	BTN3A1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000026950		0.572	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3	154	0.00	0	G			26406257	26406257	+1	no_errors	ENST00000289361	ensembl	human	known	69_37n	missense	75	21.05	20	SNP	0.001	C
CDK12	51755	genome.wustl.edu	37	17	37687471	37687472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr17:37687471_37687472insG	ENST00000447079.4	+	14	4408_4409	c.4375_4376insG	c.(4375-4377)tggfs	p.W1459fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.W1450fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1459					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGGCCTTCACTGGGGGGGCCCA	0.559			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												dbGAP		Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0																																										-	-	-	SO:0001589	frameshift_variant	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.4382dupG	17.37:g.37687478_37687478dupG	ENSP00000398880:p.Trp1459fs		A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P1463fs	ENST00000447079.4	37	c.4375_4376	CCDS11337.1	17																																																																																			CDK12	-	NULL	ENSG00000167258		0.559	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	60	0.00	0	-	NM_016507		37687471	37687472	+1	no_errors	ENST00000447079	ensembl	human	known	69_37n	frame_shift_ins	33	13.16	5	INS	1.000:1.000	G
CLCA2	9635	genome.wustl.edu	37	1	86919248	86919248	+	Silent	SNP	T	T	G			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr1:86919248T>G	ENST00000370565.4	+	13	2514	c.2352T>G	c.(2350-2352)tcT>tcG	p.S784S	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	784					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGACCCTATCTTGGACAGCAC	0.458																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	dbGAP											0													78.0	79.0	79.0					1																	86919248		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2352T>G	1.37:g.86919248T>G			A8K2T3|Q9Y6N2	Silent	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.S784	ENST00000370565.4	37	c.2352	CCDS708.1	1																																																																																			CLCA2	-	tigrfam_CaCC_prot	ENSG00000137975		0.458	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	145	0.00	0	T	NM_006536		86919248	86919248	+1	no_errors	ENST00000370565	ensembl	human	known	69_37n	silent	89	19.09	21	SNP	0.961	G
CLCA2	9635	genome.wustl.edu	37	1	86919248	86919248	+	Silent	SNP	T	T	G			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr1:86919248T>G	ENST00000370565.4	+	13	2514	c.2352T>G	c.(2350-2352)tcT>tcG	p.S784S	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	784					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGACCCTATCTTGGACAGCAC	0.458																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	dbGAP											0													78.0	79.0	79.0					1																	86919248		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2352T>G	1.37:g.86919248T>G			A8K2T3|Q9Y6N2	Silent	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.S784	ENST00000370565.4	37	c.2352	CCDS708.1	1																																																																																			CLCA2	-	tigrfam_CaCC_prot	ENSG00000137975		0.458	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	182	0.54	1	T	NM_006536		86919248	86919248	+1	no_errors	ENST00000370565	ensembl	human	known	69_37n	silent	89	19.09	21	SNP	0.961	G
COBLL1	22837	genome.wustl.edu	37	2	165551456	165551456	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr2:165551456C>T	ENST00000392717.2	-	13	2678	c.2674G>A	c.(2674-2676)Gat>Aat	p.D892N	COBLL1_ENST00000194871.6_Missense_Mutation_p.D921N|COBLL1_ENST00000409184.3_Missense_Mutation_p.D854N|COBLL1_ENST00000375458.2_Missense_Mutation_p.D816N|COBLL1_ENST00000342193.4_Missense_Mutation_p.D854N			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	892						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ATGGCATCATCAGGTGAGCTC	0.448																																						dbGAP											0													114.0	109.0	110.0					2																	165551456		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2674G>A	2.37:g.165551456C>T	ENSP00000376478:p.Asp892Asn		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	pfam_Cordon-bleu_domain,pfscan_WH2_dom	p.D921N	ENST00000392717.2	37	c.2761		2	.	.	.	.	.	.	.	.	.	.	C	2.392	-0.339523	0.05243	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.17	0.0421	0.14216	.	2.116780	0.01607	N	0.022371	T	0.19927	0.0479	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.0;0.002	T	0.08452	-1.0721	9	0.22109	T	0.4	11.6793	3.1221	0.06395	0.0842:0.4507:0.2055:0.2596	.	892;921;854	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	N	816;854;854;892;921	.	ENSP00000194871:D921N	D	-	1	0	COBLL1	165259702	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.229000	0.09098	-0.298000	0.08921	0.655000	0.94253	GAT	COBLL1	-	NULL	ENSG00000082438		0.448	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		142	0.00	0	C	NM_014900		165551456	165551456	-1	no_errors	ENST00000194871	ensembl	human	known	69_37n	missense	145	20.33	37	SNP	0.000	T
COBLL1	22837	genome.wustl.edu	37	2	165551456	165551456	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr2:165551456C>T	ENST00000392717.2	-	13	2678	c.2674G>A	c.(2674-2676)Gat>Aat	p.D892N	COBLL1_ENST00000194871.6_Missense_Mutation_p.D921N|COBLL1_ENST00000409184.3_Missense_Mutation_p.D854N|COBLL1_ENST00000375458.2_Missense_Mutation_p.D816N|COBLL1_ENST00000342193.4_Missense_Mutation_p.D854N			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	892						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ATGGCATCATCAGGTGAGCTC	0.448																																						dbGAP											0													114.0	109.0	110.0					2																	165551456		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2674G>A	2.37:g.165551456C>T	ENSP00000376478:p.Asp892Asn		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	pfam_Cordon-bleu_domain,pfscan_WH2_dom	p.D921N	ENST00000392717.2	37	c.2761		2	.	.	.	.	.	.	.	.	.	.	C	2.392	-0.339523	0.05243	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.17	0.0421	0.14216	.	2.116780	0.01607	N	0.022371	T	0.19927	0.0479	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.0;0.002	T	0.08452	-1.0721	9	0.22109	T	0.4	11.6793	3.1221	0.06395	0.0842:0.4507:0.2055:0.2596	.	892;921;854	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	N	816;854;854;892;921	.	ENSP00000194871:D921N	D	-	1	0	COBLL1	165259702	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.229000	0.09098	-0.298000	0.08921	0.655000	0.94253	GAT	COBLL1	-	NULL	ENSG00000082438		0.448	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		109	0.91	1	C	NM_014900		165551456	165551456	-1	no_errors	ENST00000194871	ensembl	human	known	69_37n	missense	145	20.33	37	SNP	0.000	T
COL11A2	1302	genome.wustl.edu	37	6	33135615	33135615	+	Frame_Shift_Del	DEL	C	C	-	rs139564431	byFrequency	TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr6:33135615delC	ENST00000374708.4	-	53	3975	c.3717delG	c.(3715-3717)tcgfs	p.S1239fs	COL11A2_ENST00000374713.1_Frame_Shift_Del_p.S1278fs|COL11A2_ENST00000361917.1_Frame_Shift_Del_p.S1218fs|COL11A2_ENST00000395197.1_Frame_Shift_Del_p.S1265fs|COL11A2_ENST00000341947.2_Frame_Shift_Del_p.S1325fs|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Frame_Shift_Del_p.S1304fs|COL11A2_ENST00000374714.1_Frame_Shift_Del_p.S1299fs|COL11A2_ENST00000374712.1_Frame_Shift_Del_p.S1244fs	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1325	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CGGAACCAGGCGAGCCAGCAG	0.642																																					Melanoma(1;90 116 3946 5341 17093)	dbGAP											0													80.0	50.0	61.0					6																	33135615		1510	2708	4218	-	-	-	SO:0001589	frameshift_variant	0			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3717delG	6.37:g.33135615delC	ENSP00000363840:p.Ser1239fs		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Frame_Shift_Del	DEL	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.P1326fs	ENST00000374708.4	37	c.3975	CCDS43452.1	6																																																																																			COL11A2	-	NULL	ENSG00000204248		0.642	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2	39	0.00	0	C			33135615	33135615	-1	no_errors	ENST00000341947	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	0.991	-
CTRL	1506	genome.wustl.edu	37	16	67964902	67964902	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr16:67964902C>T	ENST00000574481.1	-	3	718	c.157G>A	c.(157-159)Gac>Aac	p.D53N	CTC-479C5.12_ENST00000573493.1_3'UTR|CTRL_ENST00000576408.1_5'UTR	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	53	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CCGCTGCTGTCCTGTGGTCAG	0.627																																						dbGAP											0													47.0	48.0	48.0					16																	67964902		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0				CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.157-1G>A	16.37:g.67964902C>T				Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D53N	ENST00000574481.1	37	c.157	CCDS10852.1	16	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848816	0.71603	.	.	ENSG00000141086	ENST00000319955	.	.	.	5.3	1.95	0.26073	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.859930	0.03181	U	0.171986	T	0.23727	0.0574	N	0.01109	-1.01	0.42169	D	0.991632	P	0.42692	0.787	P	0.47915	0.561	T	0.20438	-1.0275	9	0.36615	T	0.2	-8.5651	5.3538	0.16050	0.1202:0.4336:0.3511:0.0951	.	53	P40313	CTRL_HUMAN	N	53	.	ENSP00000322629:D53N	D	-	1	0	CTRL	66522403	0.020000	0.18652	0.222000	0.23844	0.903000	0.53119	0.150000	0.16263	0.674000	0.31244	0.655000	0.94253	GAC	CTRL	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000141086		0.627	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTRL	HGNC	protein_coding	OTTHUMT00000268886.3	29	0.00	0	C		Missense_Mutation	67964902	67964902	-1	no_errors	ENST00000574481	ensembl	human	known	69_37n	missense	7	46.15	6	SNP	0.590	T
CTRL	1506	genome.wustl.edu	37	16	67964902	67964902	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr16:67964902C>T	ENST00000574481.1	-	3	718	c.157G>A	c.(157-159)Gac>Aac	p.D53N	CTC-479C5.12_ENST00000573493.1_3'UTR|CTRL_ENST00000576408.1_5'UTR	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	53	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CCGCTGCTGTCCTGTGGTCAG	0.627																																						dbGAP											0													47.0	48.0	48.0					16																	67964902		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0				CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.157-1G>A	16.37:g.67964902C>T				Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D53N	ENST00000574481.1	37	c.157	CCDS10852.1	16	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848816	0.71603	.	.	ENSG00000141086	ENST00000319955	.	.	.	5.3	1.95	0.26073	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.859930	0.03181	U	0.171986	T	0.23727	0.0574	N	0.01109	-1.01	0.42169	D	0.991632	P	0.42692	0.787	P	0.47915	0.561	T	0.20438	-1.0275	9	0.36615	T	0.2	-8.5651	5.3538	0.16050	0.1202:0.4336:0.3511:0.0951	.	53	P40313	CTRL_HUMAN	N	53	.	ENSP00000322629:D53N	D	-	1	0	CTRL	66522403	0.020000	0.18652	0.222000	0.23844	0.903000	0.53119	0.150000	0.16263	0.674000	0.31244	0.655000	0.94253	GAC	CTRL	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000141086		0.627	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTRL	HGNC	protein_coding	OTTHUMT00000268886.3	8	0.00	0	C		Missense_Mutation	67964902	67964902	-1	no_errors	ENST00000574481	ensembl	human	known	69_37n	missense	7	46.15	6	SNP	0.590	T
DMD	1756	genome.wustl.edu	37	X	31950337	31950337	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chrX:31950337C>G	ENST00000357033.4	-	46	6828	c.6622G>C	c.(6622-6624)Gaa>Caa	p.E2208Q	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2204Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2208					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCTTTTGTTCTTCTAGCCTG	0.318																																						dbGAP											0													50.0	47.0	48.0					X																	31950337		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6622G>C	X.37:g.31950337C>G	ENSP00000354923:p.Glu2208Gln		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.E2208Q	ENST00000357033.4	37	c.6622	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	c	18.44	3.624488	0.66901	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.41758	0.99;0.99	5.81	5.81	0.92471	.	0.000000	0.35739	U	0.003013	T	0.62974	0.2472	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D;D	0.71674	0.998;0.996;0.997;0.997;0.995;0.997	D;D;D;D;D;D	0.81914	0.93;0.991;0.951;0.995;0.946;0.995	T	0.61362	-0.7078	10	0.48119	T	0.1	.	19.0034	0.92842	0.0:1.0:0.0:0.0	.	867;2200;2208;2204;867;864	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	Q	2200;867;864;2204;2208;2208;2085	ENSP00000367948:E2204Q;ENSP00000354923:E2208Q	ENSP00000354923:E2208Q	E	-	1	0	DMD	31860258	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.011000	0.70760	2.437000	0.82529	0.591000	0.81541	GAA	DMD	-	pfam_Spectrin_repeat,pirsf_Dystrophin/utrophin	ENSG00000198947		0.318	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	195	0.00	0	C	NM_004006		31950337	31950337	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	121	14.18	20	SNP	1.000	G
DMD	1756	genome.wustl.edu	37	X	31950337	31950337	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chrX:31950337C>G	ENST00000357033.4	-	46	6828	c.6622G>C	c.(6622-6624)Gaa>Caa	p.E2208Q	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2204Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2208					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCTTTTGTTCTTCTAGCCTG	0.318																																						dbGAP											0													50.0	47.0	48.0					X																	31950337		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6622G>C	X.37:g.31950337C>G	ENSP00000354923:p.Glu2208Gln		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.E2208Q	ENST00000357033.4	37	c.6622	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	c	18.44	3.624488	0.66901	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.41758	0.99;0.99	5.81	5.81	0.92471	.	0.000000	0.35739	U	0.003013	T	0.62974	0.2472	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D;D	0.71674	0.998;0.996;0.997;0.997;0.995;0.997	D;D;D;D;D;D	0.81914	0.93;0.991;0.951;0.995;0.946;0.995	T	0.61362	-0.7078	10	0.48119	T	0.1	.	19.0034	0.92842	0.0:1.0:0.0:0.0	.	867;2200;2208;2204;867;864	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	Q	2200;867;864;2204;2208;2208;2085	ENSP00000367948:E2204Q;ENSP00000354923:E2208Q	ENSP00000354923:E2208Q	E	-	1	0	DMD	31860258	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.011000	0.70760	2.437000	0.82529	0.591000	0.81541	GAA	DMD	-	pfam_Spectrin_repeat,pirsf_Dystrophin/utrophin	ENSG00000198947		0.318	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	133	0.00	0	C	NM_004006		31950337	31950337	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	121	14.18	20	SNP	1.000	G
UGT1A6	54578	genome.wustl.edu	37	2	234652466	234652466	+	Intron	SNP	C	C	T			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr2:234652466C>T	ENST00000305139.6	+	2	1000				UGT1A1_ENST00000609767.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A6_ENST00000406651.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GGGTTTTTGTCGGGGTGCCAC	0.592																																						dbGAP											0													96.0	110.0	105.0					2																	234652466		2137	4250	6387	-	-	-	SO:0001627	intron_variant	0			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23214C>T	2.37:g.234652466C>T			A6NKK6|B8K289|Q96TE7	RNA	SNP	-	NULL	ENST00000305139.6	37	NULL	CCDS2507.1	2																																																																																			DNAJB3	-	-	ENSG00000227802		0.592	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB3	HGNC	protein_coding	OTTHUMT00000130988.1	86	0.00	0	C	NM_205862		234652466	234652466	-1	no_errors	ENST00000449667	ensembl	human	known	69_37n	rna	33	36.54	19	SNP	0.997	T
UGT1A6	54578	genome.wustl.edu	37	2	234652466	234652466	+	Intron	SNP	C	C	T			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr2:234652466C>T	ENST00000305139.6	+	2	1000				UGT1A1_ENST00000609767.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A6_ENST00000406651.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GGGTTTTTGTCGGGGTGCCAC	0.592																																						dbGAP											0													96.0	110.0	105.0					2																	234652466		2137	4250	6387	-	-	-	SO:0001627	intron_variant	0			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23214C>T	2.37:g.234652466C>T			A6NKK6|B8K289|Q96TE7	RNA	SNP	-	NULL	ENST00000305139.6	37	NULL	CCDS2507.1	2																																																																																			DNAJB3	-	-	ENSG00000227802		0.592	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB3	HGNC	protein_coding	OTTHUMT00000130988.1	65	0.00	0	C	NM_205862		234652466	234652466	-1	no_errors	ENST00000449667	ensembl	human	known	69_37n	rna	33	36.54	19	SNP	0.997	T
ELK1	2002	genome.wustl.edu	37	X	47500696	47500696	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chrX:47500696G>A	ENST00000247161.3	-	2	244	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	ELK1_ENST00000343894.4_Missense_Mutation_p.R49C|ELK1_ENST00000592066.1_De_novo_Start_OutOfFrame|ELK1_ENST00000376983.3_Missense_Mutation_p.R49C	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	49					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TTGTTCTTGCGTAGCCCCCAC	0.572																																						dbGAP											0													114.0	89.0	98.0					X																	47500696		2203	4300	6503	-	-	-	SO:0001583	missense	0			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.145C>T	X.37:g.47500696G>A	ENSP00000247161:p.Arg49Cys		B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.R49C	ENST00000247161.3	37	c.145	CCDS14283.1	X	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253142	0.80135	.	.	ENSG00000126767	ENST00000247161;ENST00000376983;ENST00000343894	T;T;T	0.26957	1.7;1.7;1.7	4.89	4.89	0.63831	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.057497	0.64402	D	0.000001	T	0.41766	0.1173	M	0.93678	3.445	0.80722	D	1	P	0.37141	0.584	B	0.35312	0.2	T	0.57613	-0.7781	10	0.87932	D	0	.	14.323	0.66499	0.0:0.0:1.0:0.0	.	49	P19419	ELK1_HUMAN	C	49	ENSP00000247161:R49C;ENSP00000366182:R49C;ENSP00000345585:R49C	ENSP00000247161:R49C	R	-	1	0	ELK1	47385640	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.448000	0.66612	2.255000	0.74692	0.506000	0.49869	CGC	ELK1	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	ENSG00000126767		0.572	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELK1	HGNC	protein_coding	OTTHUMT00000056436.1	104	0.00	0	G	NM_005229		47500696	47500696	-1	no_errors	ENST00000247161	ensembl	human	known	69_37n	missense	52	20.00	13	SNP	1.000	A
ELK1	2002	genome.wustl.edu	37	X	47500696	47500696	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chrX:47500696G>A	ENST00000247161.3	-	2	244	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	ELK1_ENST00000343894.4_Missense_Mutation_p.R49C|ELK1_ENST00000592066.1_De_novo_Start_OutOfFrame|ELK1_ENST00000376983.3_Missense_Mutation_p.R49C	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	49					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TTGTTCTTGCGTAGCCCCCAC	0.572																																						dbGAP											0													114.0	89.0	98.0					X																	47500696		2203	4300	6503	-	-	-	SO:0001583	missense	0			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.145C>T	X.37:g.47500696G>A	ENSP00000247161:p.Arg49Cys		B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.R49C	ENST00000247161.3	37	c.145	CCDS14283.1	X	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253142	0.80135	.	.	ENSG00000126767	ENST00000247161;ENST00000376983;ENST00000343894	T;T;T	0.26957	1.7;1.7;1.7	4.89	4.89	0.63831	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.057497	0.64402	D	0.000001	T	0.41766	0.1173	M	0.93678	3.445	0.80722	D	1	P	0.37141	0.584	B	0.35312	0.2	T	0.57613	-0.7781	10	0.87932	D	0	.	14.323	0.66499	0.0:0.0:1.0:0.0	.	49	P19419	ELK1_HUMAN	C	49	ENSP00000247161:R49C;ENSP00000366182:R49C;ENSP00000345585:R49C	ENSP00000247161:R49C	R	-	1	0	ELK1	47385640	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.448000	0.66612	2.255000	0.74692	0.506000	0.49869	CGC	ELK1	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	ENSG00000126767		0.572	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELK1	HGNC	protein_coding	OTTHUMT00000056436.1	145	0.00	0	G	NM_005229		47500696	47500696	-1	no_errors	ENST00000247161	ensembl	human	known	69_37n	missense	52	20.00	13	SNP	1.000	A
FABP9	646480	genome.wustl.edu	37	8	82371416	82371416	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr8:82371416T>C	ENST00000379071.2	-	2	285	c.230A>G	c.(229-231)gAc>gGc	p.D77G	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	77					acrosome assembly (GO:0001675)	acrosomal vesicle (GO:0001669)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			TTTCCGGTTGTCTGCTGTAGT	0.388																																						dbGAP											0													200.0	189.0	193.0					8																	82371416		2203	4300	6503	-	-	-	SO:0001583	missense	0					8q21.13	2013-03-01			ENSG00000205186	ENSG00000205186		"""Fatty acid binding protein family"""	3563	protein-coding gene	gene with protein product						7958448	Standard	NM_001080526		Approved	PERF, T-FABP, PERF15	uc011lfo.2	Q0Z7S8	OTTHUMG00000164601	ENST00000379071.2:c.230A>G	8.37:g.82371416T>C	ENSP00000368362:p.Asp77Gly			Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.D77G	ENST00000379071.2	37	c.230		8	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688113	0.68271	.	.	ENSG00000205186	ENST00000379071	T	0.08102	3.13	4.81	3.64	0.41730	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.13457	0.0326	L	0.52364	1.645	0.58432	D	0.999999	P	0.34955	0.477	P	0.45037	0.467	T	0.02639	-1.1130	10	0.54805	T	0.06	.	9.9182	0.41448	0.0:0.083:0.0:0.917	.	77	Q0Z7S8	FABP9_HUMAN	G	77	ENSP00000368362:D77G	ENSP00000368362:D77G	D	-	2	0	FABP9	82533971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	0.958000	0.37956	0.533000	0.62120	GAC	FABP9	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	ENSG00000205186		0.388	FABP9-001	KNOWN	basic|appris_principal	protein_coding	FABP9	HGNC	protein_coding	OTTHUMT00000379367.2	192	0.52	1	T	NM_001080526		82371416	82371416	-1	no_errors	ENST00000379071	ensembl	human	known	69_37n	missense	213	14.11	35	SNP	1.000	C
FABP9	646480	genome.wustl.edu	37	8	82371416	82371416	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr8:82371416T>C	ENST00000379071.2	-	2	285	c.230A>G	c.(229-231)gAc>gGc	p.D77G	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	77					acrosome assembly (GO:0001675)	acrosomal vesicle (GO:0001669)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			TTTCCGGTTGTCTGCTGTAGT	0.388																																						dbGAP											0													200.0	189.0	193.0					8																	82371416		2203	4300	6503	-	-	-	SO:0001583	missense	0					8q21.13	2013-03-01			ENSG00000205186	ENSG00000205186		"""Fatty acid binding protein family"""	3563	protein-coding gene	gene with protein product						7958448	Standard	NM_001080526		Approved	PERF, T-FABP, PERF15	uc011lfo.2	Q0Z7S8	OTTHUMG00000164601	ENST00000379071.2:c.230A>G	8.37:g.82371416T>C	ENSP00000368362:p.Asp77Gly			Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.D77G	ENST00000379071.2	37	c.230		8	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688113	0.68271	.	.	ENSG00000205186	ENST00000379071	T	0.08102	3.13	4.81	3.64	0.41730	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.13457	0.0326	L	0.52364	1.645	0.58432	D	0.999999	P	0.34955	0.477	P	0.45037	0.467	T	0.02639	-1.1130	10	0.54805	T	0.06	.	9.9182	0.41448	0.0:0.083:0.0:0.917	.	77	Q0Z7S8	FABP9_HUMAN	G	77	ENSP00000368362:D77G	ENSP00000368362:D77G	D	-	2	0	FABP9	82533971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	0.958000	0.37956	0.533000	0.62120	GAC	FABP9	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	ENSG00000205186		0.388	FABP9-001	KNOWN	basic|appris_principal	protein_coding	FABP9	HGNC	protein_coding	OTTHUMT00000379367.2	299	0.00	0	T	NM_001080526		82371416	82371416	-1	no_errors	ENST00000379071	ensembl	human	known	69_37n	missense	213	14.11	35	SNP	1.000	C
HIVEP2	3097	genome.wustl.edu	37	6	143093972	143093972	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr6:143093972C>A	ENST00000367604.1	-	4	2543	c.1904G>T	c.(1903-1905)gGg>gTg	p.G635V	HIVEP2_ENST00000367603.2_Missense_Mutation_p.G635V|HIVEP2_ENST00000012134.2_Missense_Mutation_p.G635V			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	635					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATAGTCATACCCAACCCTGTC	0.483																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	dbGAP											0													140.0	135.0	137.0					6																	143093972		1951	4149	6100	-	-	-	SO:0001583	missense	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1904G>T	6.37:g.143093972C>A	ENSP00000356576:p.Gly635Val		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G635V	ENST00000367604.1	37	c.1904	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	0	-2.635311	0.00114	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.10192	2.9;2.9;2.9	5.24	4.37	0.52481	.	0.404999	0.28290	N	0.015896	T	0.03305	0.0096	L	0.44542	1.39	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.42120	-0.9470	10	0.15066	T	0.55	-14.6668	14.5086	0.67769	0.3765:0.6235:0.0:0.0	.	635	P31629	ZEP2_HUMAN	V	635	ENSP00000356576:G635V;ENSP00000356575:G635V;ENSP00000012134:G635V	ENSP00000012134:G635V	G	-	2	0	HIVEP2	143135665	0.123000	0.22298	0.114000	0.21550	0.012000	0.07955	1.959000	0.40412	0.608000	0.30000	-0.808000	0.03180	GGG	HIVEP2	-	NULL	ENSG00000010818		0.483	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	153	0.00	0	C			143093972	143093972	-1	no_errors	ENST00000012134	ensembl	human	known	69_37n	missense	61	28.24	24	SNP	0.030	A
HIVEP2	3097	genome.wustl.edu	37	6	143093972	143093972	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr6:143093972C>A	ENST00000367604.1	-	4	2543	c.1904G>T	c.(1903-1905)gGg>gTg	p.G635V	HIVEP2_ENST00000367603.2_Missense_Mutation_p.G635V|HIVEP2_ENST00000012134.2_Missense_Mutation_p.G635V			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	635					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATAGTCATACCCAACCCTGTC	0.483																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	dbGAP											0													140.0	135.0	137.0					6																	143093972		1951	4149	6100	-	-	-	SO:0001583	missense	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1904G>T	6.37:g.143093972C>A	ENSP00000356576:p.Gly635Val		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G635V	ENST00000367604.1	37	c.1904	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	0	-2.635311	0.00114	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.10192	2.9;2.9;2.9	5.24	4.37	0.52481	.	0.404999	0.28290	N	0.015896	T	0.03305	0.0096	L	0.44542	1.39	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.42120	-0.9470	10	0.15066	T	0.55	-14.6668	14.5086	0.67769	0.3765:0.6235:0.0:0.0	.	635	P31629	ZEP2_HUMAN	V	635	ENSP00000356576:G635V;ENSP00000356575:G635V;ENSP00000012134:G635V	ENSP00000012134:G635V	G	-	2	0	HIVEP2	143135665	0.123000	0.22298	0.114000	0.21550	0.012000	0.07955	1.959000	0.40412	0.608000	0.30000	-0.808000	0.03180	GGG	HIVEP2	-	NULL	ENSG00000010818		0.483	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	92	0.00	0	C			143093972	143093972	-1	no_errors	ENST00000012134	ensembl	human	known	69_37n	missense	61	28.24	24	SNP	0.030	A
IGHV3-23	28442	genome.wustl.edu	37	14	106725468	106725469	+	RNA	INS	-	-	C			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr14:106725468_106725469insC	ENST00000390609.2	-	0	161_162									immunoglobulin heavy variable 3-23																		GTACCAAGCCTCCCCCAGACTC	0.559																																						dbGAP											0																																										-	-	-			0			M99660		14q32.33	2012-02-08			ENSG00000211949	ENSG00000211949		"""Immunoglobulins / IGH locus"""	5588	other	immunoglobulin gene		611939					Standard	NG_001019		Approved				OTTHUMG00000152091		14.37:g.106725473_106725473dupC				Frame_Shift_Ins	INS	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.G29fs	ENST00000390609.2	37	c.84_83		14																																																																																			IGHV3-23	-	pfam_Ig_V-set	ENSG00000211949		0.559	IGHV3-23-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-23	HGNC	IG_V_gene	OTTHUMT00000325188.1	398	0.00	0	-	NG_001019		106725468	106725469	-1	no_stop_codon	ENST00000390609	ensembl	human	known	69_37n	frame_shift_ins	409	10.11	46	INS	0.002:0.002	C
IGHV3-23	28442	genome.wustl.edu	37	14	106725468	106725469	+	RNA	INS	-	-	C			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr14:106725468_106725469insC	ENST00000390609.2	-	0	161_162									immunoglobulin heavy variable 3-23																		GTACCAAGCCTCCCCCAGACTC	0.559																																						dbGAP											0																																										-	-	-			0			M99660		14q32.33	2012-02-08			ENSG00000211949	ENSG00000211949		"""Immunoglobulins / IGH locus"""	5588	other	immunoglobulin gene		611939					Standard	NG_001019		Approved				OTTHUMG00000152091		14.37:g.106725473_106725473dupC				Frame_Shift_Ins	INS	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.G29fs	ENST00000390609.2	37	c.84_83		14																																																																																			IGHV3-23	-	pfam_Ig_V-set	ENSG00000211949		0.559	IGHV3-23-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-23	HGNC	IG_V_gene	OTTHUMT00000325188.1	407	0.00	0	-	NG_001019		106725468	106725469	-1	no_stop_codon	ENST00000390609	ensembl	human	known	69_37n	frame_shift_ins	409	10.11	46	INS	0.002:0.002	C
KIAA2022	340533	genome.wustl.edu	37	X	73961666	73961666	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chrX:73961666G>A	ENST00000055682.6	-	3	3337	c.2726C>T	c.(2725-2727)gCc>gTc	p.A909V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	909					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTGGGTTGGGGCTATCTCCCT	0.453																																						dbGAP											0													68.0	59.0	62.0					X																	73961666		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2726C>T	X.37:g.73961666G>A	ENSP00000055682:p.Ala909Val		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.A909V	ENST00000055682.6	37	c.2726	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276993	0.23307	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32753	1.44;1.44	5.16	3.34	0.38264	.	0.589771	0.18937	N	0.127042	T	0.14787	0.0357	N	0.08118	0	0.19775	N	0.999959	B	0.06786	0.001	B	0.08055	0.003	T	0.18618	-1.0331	10	0.72032	D	0.01	0.0232	5.8931	0.18925	0.1618:0.0:0.6833:0.1549	.	909	Q5QGS0	K2022_HUMAN	V	909	ENSP00000362567:A909V;ENSP00000055682:A909V	ENSP00000055682:A909V	A	-	2	0	KIAA2022	73878391	0.054000	0.20591	0.297000	0.24988	0.816000	0.46133	2.379000	0.44318	0.380000	0.24823	0.529000	0.55759	GCC	KIAA2022	-	NULL	ENSG00000050030		0.453	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	377	0.00	0	G	NM_001008537		73961666	73961666	-1	no_errors	ENST00000055682	ensembl	human	known	69_37n	missense	270	16.10	52	SNP	0.344	A
KIAA2022	340533	genome.wustl.edu	37	X	73961666	73961666	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chrX:73961666G>A	ENST00000055682.6	-	3	3337	c.2726C>T	c.(2725-2727)gCc>gTc	p.A909V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	909					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTGGGTTGGGGCTATCTCCCT	0.453																																						dbGAP											0													68.0	59.0	62.0					X																	73961666		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2726C>T	X.37:g.73961666G>A	ENSP00000055682:p.Ala909Val		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.A909V	ENST00000055682.6	37	c.2726	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276993	0.23307	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32753	1.44;1.44	5.16	3.34	0.38264	.	0.589771	0.18937	N	0.127042	T	0.14787	0.0357	N	0.08118	0	0.19775	N	0.999959	B	0.06786	0.001	B	0.08055	0.003	T	0.18618	-1.0331	10	0.72032	D	0.01	0.0232	5.8931	0.18925	0.1618:0.0:0.6833:0.1549	.	909	Q5QGS0	K2022_HUMAN	V	909	ENSP00000362567:A909V;ENSP00000055682:A909V	ENSP00000055682:A909V	A	-	2	0	KIAA2022	73878391	0.054000	0.20591	0.297000	0.24988	0.816000	0.46133	2.379000	0.44318	0.380000	0.24823	0.529000	0.55759	GCC	KIAA2022	-	NULL	ENSG00000050030		0.453	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	364	0.00	0	G	NM_001008537		73961666	73961666	-1	no_errors	ENST00000055682	ensembl	human	known	69_37n	missense	270	16.10	52	SNP	0.344	A
KL	9365	genome.wustl.edu	37	13	33634928	33634928	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr13:33634928A>G	ENST00000380099.3	+	4	1720	c.1712A>G	c.(1711-1713)tAc>tGc	p.Y571C	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	571	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGGAAATCCTACTGTGTTGAC	0.488																																						dbGAP											0													167.0	146.0	153.0					13																	33634928		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1712A>G	13.37:g.33634928A>G	ENSP00000369442:p.Tyr571Cys		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.Y571C	ENST00000380099.3	37	c.1712	CCDS9347.1	13	.	.	.	.	.	.	.	.	.	.	A	11.99	1.804149	0.31869	.	.	ENSG00000133116	ENST00000380099	T	0.31510	1.49	5.44	4.24	0.50183	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.105696	0.64402	D	0.000004	T	0.43700	0.1259	L	0.44542	1.39	0.41104	D	0.985691	P	0.52170	0.951	P	0.61275	0.886	T	0.35076	-0.9803	10	0.66056	D	0.02	-16.1366	12.5215	0.56062	0.8604:0.1396:0.0:0.0	.	571	Q9UEF7	KLOT_HUMAN	C	571	ENSP00000369442:Y571C	ENSP00000369442:Y571C	Y	+	2	0	KL	32532928	1.000000	0.71417	0.005000	0.12908	0.292000	0.27327	9.139000	0.94554	0.886000	0.36113	0.460000	0.39030	TAC	KL	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000133116		0.488	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KL	HGNC	protein_coding	OTTHUMT00000045987.1	111	0.89	1	A			33634928	33634928	+1	no_errors	ENST00000380099	ensembl	human	known	69_37n	missense	37	33.33	19	SNP	0.937	G
KL	9365	genome.wustl.edu	37	13	33634928	33634928	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr13:33634928A>G	ENST00000380099.3	+	4	1720	c.1712A>G	c.(1711-1713)tAc>tGc	p.Y571C	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	571	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGGAAATCCTACTGTGTTGAC	0.488																																						dbGAP											0													167.0	146.0	153.0					13																	33634928		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1712A>G	13.37:g.33634928A>G	ENSP00000369442:p.Tyr571Cys		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.Y571C	ENST00000380099.3	37	c.1712	CCDS9347.1	13	.	.	.	.	.	.	.	.	.	.	A	11.99	1.804149	0.31869	.	.	ENSG00000133116	ENST00000380099	T	0.31510	1.49	5.44	4.24	0.50183	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.105696	0.64402	D	0.000004	T	0.43700	0.1259	L	0.44542	1.39	0.41104	D	0.985691	P	0.52170	0.951	P	0.61275	0.886	T	0.35076	-0.9803	10	0.66056	D	0.02	-16.1366	12.5215	0.56062	0.8604:0.1396:0.0:0.0	.	571	Q9UEF7	KLOT_HUMAN	C	571	ENSP00000369442:Y571C	ENSP00000369442:Y571C	Y	+	2	0	KL	32532928	1.000000	0.71417	0.005000	0.12908	0.292000	0.27327	9.139000	0.94554	0.886000	0.36113	0.460000	0.39030	TAC	KL	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000133116		0.488	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KL	HGNC	protein_coding	OTTHUMT00000045987.1	82	0.00	0	A			33634928	33634928	+1	no_errors	ENST00000380099	ensembl	human	known	69_37n	missense	37	33.33	19	SNP	0.937	G
LMOD3	56203	genome.wustl.edu	37	3	69168311	69168311	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr3:69168311G>A	ENST00000420581.2	-	2	1374	c.1195C>T	c.(1195-1197)Cag>Tag	p.Q399*	LMOD3_ENST00000489031.1_Nonsense_Mutation_p.Q399*|LMOD3_ENST00000475434.1_Nonsense_Mutation_p.Q399*	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	399						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TGTCGTTTCTGCCTTTGTTTA	0.502																																						dbGAP											0													122.0	117.0	119.0					3																	69168311		1936	4149	6085	-	-	-	SO:0001587	stop_gained	0			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1195C>T	3.37:g.69168311G>A	ENSP00000414670:p.Gln399*		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Nonsense_Mutation	SNP	pfam_Tropomodulin	p.Q399*	ENST00000420581.2	37	c.1195	CCDS46862.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.692033	0.97768	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-23.2742	19.7449	0.96248	0.0:0.0:1.0:0.0	.	.	.	.	X	399	.	ENSP00000414670:Q399X	Q	-	1	0	LMOD3	69251001	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.869000	0.99810	2.677000	0.91161	0.591000	0.81541	CAG	LMOD3	-	NULL	ENSG00000163380		0.502	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD3	HGNC	protein_coding	OTTHUMT00000352138.1	278	0.00	0	G	XM_067529		69168311	69168311	-1	no_errors	ENST00000420581	ensembl	human	known	69_37n	nonsense	207	15.51	38	SNP	1.000	A
LMOD3	56203	genome.wustl.edu	37	3	69168311	69168311	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr3:69168311G>A	ENST00000420581.2	-	2	1374	c.1195C>T	c.(1195-1197)Cag>Tag	p.Q399*	LMOD3_ENST00000489031.1_Nonsense_Mutation_p.Q399*|LMOD3_ENST00000475434.1_Nonsense_Mutation_p.Q399*	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	399						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TGTCGTTTCTGCCTTTGTTTA	0.502																																						dbGAP											0													122.0	117.0	119.0					3																	69168311		1936	4149	6085	-	-	-	SO:0001587	stop_gained	0			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1195C>T	3.37:g.69168311G>A	ENSP00000414670:p.Gln399*		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Nonsense_Mutation	SNP	pfam_Tropomodulin	p.Q399*	ENST00000420581.2	37	c.1195	CCDS46862.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.692033	0.97768	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-23.2742	19.7449	0.96248	0.0:0.0:1.0:0.0	.	.	.	.	X	399	.	ENSP00000414670:Q399X	Q	-	1	0	LMOD3	69251001	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.869000	0.99810	2.677000	0.91161	0.591000	0.81541	CAG	LMOD3	-	NULL	ENSG00000163380		0.502	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD3	HGNC	protein_coding	OTTHUMT00000352138.1	242	0.00	0	G	XM_067529		69168311	69168311	-1	no_errors	ENST00000420581	ensembl	human	known	69_37n	nonsense	207	15.51	38	SNP	1.000	A
MAGEB4	4115	genome.wustl.edu	37	X	30260727	30260727	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chrX:30260727G>A	ENST00000378982.2	+	1	671	c.475G>A	c.(475-477)Gag>Aag	p.E159K	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	159	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.E159K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TCAGCGCACGGAGCTGGTCTT	0.517																																						dbGAP											1	Substitution - Missense(1)	skin(1)											62.0	44.0	50.0					X																	30260727		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.475G>A	X.37:g.30260727G>A	ENSP00000368266:p.Glu159Lys		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E159K	ENST00000378982.2	37	c.475	CCDS14221.1	X	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988946	0.53934	.	.	ENSG00000120289	ENST00000378982	T	0.05139	3.49	3.2	2.3	0.28687	.	0.238996	0.32204	U	0.006435	T	0.16557	0.0398	M	0.75615	2.305	0.09310	N	1	P	0.52316	0.952	P	0.58620	0.842	T	0.02053	-1.1222	10	0.72032	D	0.01	.	7.2351	0.26066	0.0:0.2844:0.7156:0.0	.	159	O15481	MAGB4_HUMAN	K	159	ENSP00000368266:E159K	ENSP00000368266:E159K	E	+	1	0	MAGEB4	30170648	0.013000	0.17824	0.001000	0.08648	0.008000	0.06430	0.985000	0.29578	0.709000	0.31976	0.600000	0.82982	GAG	MAGEB4	-	pfam_MAGE,pfscan_MAGE	ENSG00000120289		0.517	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB4	HGNC	protein_coding	OTTHUMT00000056159.1	53	0.00	0	G	NM_002367		30260727	30260727	+1	no_errors	ENST00000378982	ensembl	human	known	69_37n	missense	39	18.75	9	SNP	0.001	A
MAGEB4	4115	genome.wustl.edu	37	X	30260727	30260727	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chrX:30260727G>A	ENST00000378982.2	+	1	671	c.475G>A	c.(475-477)Gag>Aag	p.E159K	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	159	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.E159K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TCAGCGCACGGAGCTGGTCTT	0.517																																						dbGAP											1	Substitution - Missense(1)	skin(1)											62.0	44.0	50.0					X																	30260727		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.475G>A	X.37:g.30260727G>A	ENSP00000368266:p.Glu159Lys		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E159K	ENST00000378982.2	37	c.475	CCDS14221.1	X	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988946	0.53934	.	.	ENSG00000120289	ENST00000378982	T	0.05139	3.49	3.2	2.3	0.28687	.	0.238996	0.32204	U	0.006435	T	0.16557	0.0398	M	0.75615	2.305	0.09310	N	1	P	0.52316	0.952	P	0.58620	0.842	T	0.02053	-1.1222	10	0.72032	D	0.01	.	7.2351	0.26066	0.0:0.2844:0.7156:0.0	.	159	O15481	MAGB4_HUMAN	K	159	ENSP00000368266:E159K	ENSP00000368266:E159K	E	+	1	0	MAGEB4	30170648	0.013000	0.17824	0.001000	0.08648	0.008000	0.06430	0.985000	0.29578	0.709000	0.31976	0.600000	0.82982	GAG	MAGEB4	-	pfam_MAGE,pfscan_MAGE	ENSG00000120289		0.517	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB4	HGNC	protein_coding	OTTHUMT00000056159.1	81	0.00	0	G	NM_002367		30260727	30260727	+1	no_errors	ENST00000378982	ensembl	human	known	69_37n	missense	39	18.75	9	SNP	0.001	A
MAOA	4128	genome.wustl.edu	37	X	43603045	43603046	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chrX:43603045_43603046insT	ENST00000338702.3	+	13	1390_1391	c.1267_1268insT	c.(1267-1269)attfs	p.I423fs	MAOA_ENST00000542639.1_Frame_Shift_Ins_p.I290fs	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	423					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	TTGAAGGGTGATTCGTCAACCC	0.54																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.1269dupT	X.37:g.43603047_43603047dupT	ENSP00000340684:p.Ile423fs		B4DF46|Q16426	Frame_Shift_Ins	INS	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase	p.R424fs	ENST00000338702.3	37	c.1267_1268	CCDS14260.1	X																																																																																			MAOA	-	pfam_Amino_oxidase,prints_Flavin_amine_oxidase	ENSG00000189221		0.540	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOA	HGNC	protein_coding	OTTHUMT00000056300.1	15	0.00	0	-	NM_000240		43603045	43603046	+1	no_errors	ENST00000338702	ensembl	human	known	69_37n	frame_shift_ins	2	50.00	2	INS	0.720:0.922	T
MCM4	4173	genome.wustl.edu	37	8	48887308	48887308	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr8:48887308G>A	ENST00000262105.2	+	14	2360	c.2151G>A	c.(2149-2151)atG>atA	p.M717I	MCM4_ENST00000523944.1_Missense_Mutation_p.M717I	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	717					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ATGTAGACATGAGGAAGATTG	0.418																																						dbGAP											0													164.0	173.0	170.0					8																	48887308		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2151G>A	8.37:g.48887308G>A	ENSP00000262105:p.Met717Ile		Q8NEH1|Q99658	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase	p.M717I	ENST00000262105.2	37	c.2151	CCDS6143.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.598248	0.96614	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000524276;ENST00000521261	T;T	0.06608	3.28;3.28	5.8	5.8	0.92144	.	0.068342	0.85682	D	0.000000	T	0.25457	0.0619	M	0.64567	1.98	0.58432	D	0.999994	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.00051	-1.2195	10	0.87932	D	0	-32.0994	20.0459	0.97607	0.0:0.0:1.0:0.0	.	717;717	B3KMX0;P33991	.;MCM4_HUMAN	I	717;717;704;677;1;1	ENSP00000430194:M717I;ENSP00000262105:M717I	ENSP00000262105:M717I	M	+	3	0	MCM4	49049861	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.408000	0.97327	2.748000	0.94277	0.557000	0.71058	ATG	MCM4	-	pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase	ENSG00000104738		0.418	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM4	HGNC	protein_coding	OTTHUMT00000377791.1	216	0.00	0	G	NM_005914		48887308	48887308	+1	no_errors	ENST00000262105	ensembl	human	known	69_37n	missense	154	18.95	36	SNP	1.000	A
MCM4	4173	genome.wustl.edu	37	8	48887308	48887308	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr8:48887308G>A	ENST00000262105.2	+	14	2360	c.2151G>A	c.(2149-2151)atG>atA	p.M717I	MCM4_ENST00000523944.1_Missense_Mutation_p.M717I	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	717					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ATGTAGACATGAGGAAGATTG	0.418																																						dbGAP											0													164.0	173.0	170.0					8																	48887308		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2151G>A	8.37:g.48887308G>A	ENSP00000262105:p.Met717Ile		Q8NEH1|Q99658	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase	p.M717I	ENST00000262105.2	37	c.2151	CCDS6143.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.598248	0.96614	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000524276;ENST00000521261	T;T	0.06608	3.28;3.28	5.8	5.8	0.92144	.	0.068342	0.85682	D	0.000000	T	0.25457	0.0619	M	0.64567	1.98	0.58432	D	0.999994	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.00051	-1.2195	10	0.87932	D	0	-32.0994	20.0459	0.97607	0.0:0.0:1.0:0.0	.	717;717	B3KMX0;P33991	.;MCM4_HUMAN	I	717;717;704;677;1;1	ENSP00000430194:M717I;ENSP00000262105:M717I	ENSP00000262105:M717I	M	+	3	0	MCM4	49049861	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.408000	0.97327	2.748000	0.94277	0.557000	0.71058	ATG	MCM4	-	pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase	ENSG00000104738		0.418	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM4	HGNC	protein_coding	OTTHUMT00000377791.1	235	0.00	0	G	NM_005914		48887308	48887308	+1	no_errors	ENST00000262105	ensembl	human	known	69_37n	missense	154	18.95	36	SNP	1.000	A
MUC5B	727897	genome.wustl.edu	37	11	1264631	1264631	+	Missense_Mutation	SNP	A	A	G	rs56726556		TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr11:1264631A>G	ENST00000529681.1	+	31	6579	c.6521A>G	c.(6520-6522)aAc>aGc	p.N2174S	MUC5B_ENST00000447027.1_Missense_Mutation_p.N2177S|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2174	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			N -> S (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.N2177S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		gccaccagcaacacAGTGACT	0.672																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											66.0	85.0	79.0					11																	1264631		2045	4056	6101	-	-	-	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6521A>G	11.37:g.1264631A>G	ENSP00000436812:p.Asn2174Ser		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.N2177S	ENST00000529681.1	37	c.6530	CCDS44515.2	11	435	0.19917582417582416	65	0.13211382113821138	64	0.17679558011049723	233	0.40734265734265734	73	0.09630606860158311	a	1.301	-0.604758	0.03717	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.15487	2.42;2.55	1.18	0.212	0.15240	.	.	.	.	.	T	0.00012	0.0000	N	0.00621	-1.32	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45086	-0.9285	8	0.87932	D	0	.	4.8773	0.13662	0.2376:0.5296:0.2328:0.0	rs56726556	2177	E9PBJ0	.	S	2174;2177;2175	ENSP00000436812:N2174S;ENSP00000415793:N2177S	ENSP00000343037:N2175S	N	+	2	0	MUC5B	1221207	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.864000	0.04254	-0.329000	0.08527	-2.989000	0.00078	AAC	MUC5B	-	NULL	ENSG00000117983		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	18	0.00	0	A	XM_001126093		1264631	1264631	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	missense	7	46.15	6	SNP	0.024	G
NF1	4763	genome.wustl.edu	37	17	29685563	29685563	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr17:29685563A>G	ENST00000358273.4	+	55	8419	c.8036A>G	c.(8035-8037)aAt>aGt	p.N2679S	NF1_ENST00000444181.2_Missense_Mutation_p.N472S|NF1_ENST00000356175.3_Missense_Mutation_p.N2658S|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2679					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATTTGTTAAATCCAATCCAT	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												dbGAP	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											119.0	109.0	113.0					17																	29685563		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8036A>G	17.37:g.29685563A>G	ENSP00000351015:p.Asn2679Ser		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.N2679S	ENST00000358273.4	37	c.8036	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	A	16.21	3.058698	0.55325	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.64803	3.23;-0.12;3.07;-0.12	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.69378	0.3104	L	0.33189	0.99	0.80722	D	1	B;D;P	0.56035	0.355;0.974;0.533	B;D;B	0.70487	0.385;0.969;0.133	T	0.66200	-0.5983	10	0.28530	T	0.3	.	15.6272	0.76870	1.0:0.0:0.0:0.0	.	472;2658;2679	B4DXH1;P21359-2;P21359	.;.;NF1_HUMAN	S	2679;2658;2324;472	ENSP00000351015:N2679S;ENSP00000348498:N2658S;ENSP00000389907:N2324S;ENSP00000396481:N472S	ENSP00000348498:N2658S	N	+	2	0	NF1	26709689	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.789000	0.91839	2.285000	0.76669	0.528000	0.53228	AAT	NF1	-	NULL	ENSG00000196712		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	139	0.00	0	A	NM_000267		29685563	29685563	+1	no_errors	ENST00000358273	ensembl	human	known	69_37n	missense	114	12.98	17	SNP	1.000	G
NF1	4763	genome.wustl.edu	37	17	29685563	29685563	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr17:29685563A>G	ENST00000358273.4	+	55	8419	c.8036A>G	c.(8035-8037)aAt>aGt	p.N2679S	NF1_ENST00000444181.2_Missense_Mutation_p.N472S|NF1_ENST00000356175.3_Missense_Mutation_p.N2658S|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2679					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATTTGTTAAATCCAATCCAT	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												dbGAP	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											119.0	109.0	113.0					17																	29685563		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8036A>G	17.37:g.29685563A>G	ENSP00000351015:p.Asn2679Ser		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.N2679S	ENST00000358273.4	37	c.8036	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	A	16.21	3.058698	0.55325	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.64803	3.23;-0.12;3.07;-0.12	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.69378	0.3104	L	0.33189	0.99	0.80722	D	1	B;D;P	0.56035	0.355;0.974;0.533	B;D;B	0.70487	0.385;0.969;0.133	T	0.66200	-0.5983	10	0.28530	T	0.3	.	15.6272	0.76870	1.0:0.0:0.0:0.0	.	472;2658;2679	B4DXH1;P21359-2;P21359	.;.;NF1_HUMAN	S	2679;2658;2324;472	ENSP00000351015:N2679S;ENSP00000348498:N2658S;ENSP00000389907:N2324S;ENSP00000396481:N472S	ENSP00000348498:N2658S	N	+	2	0	NF1	26709689	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.789000	0.91839	2.285000	0.76669	0.528000	0.53228	AAT	NF1	-	NULL	ENSG00000196712		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	178	0.00	0	A	NM_000267		29685563	29685563	+1	no_errors	ENST00000358273	ensembl	human	known	69_37n	missense	114	12.98	17	SNP	1.000	G
NOC3L	64318	genome.wustl.edu	37	10	96121599	96121599	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr10:96121599G>A	ENST00000371361.3	-	2	140	c.40C>T	c.(40-42)Cgc>Tgc	p.R14C	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.R14C	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	14					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATTAACTTGCGAAAGCTTGGG	0.303																																						dbGAP											0													101.0	91.0	95.0					10																	96121599		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.40C>T	10.37:g.96121599G>A	ENSP00000360412:p.Arg14Cys		Q9H5M6|Q9H9D8	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3	p.R14C	ENST00000371361.3	37	c.40	CCDS7433.1	10	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409332	0.62399	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.13778	2.57;2.56	4.77	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	L	0.29908	0.895	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.01697	-1.1293	10	0.87932	D	0	-4.8348	12.9386	0.58329	0.0787:0.0:0.9213:0.0	.	14	Q8WTT2	NOC3L_HUMAN	C	14	ENSP00000360412:R14C;ENSP00000360401:R14C	ENSP00000360401:R14C	R	-	1	0	NOC3L	96111589	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	6.239000	0.72356	1.001000	0.39076	-0.258000	0.10820	CGC	NOC3L	-	pirsf_Nucleolar_cplx-assoc_3	ENSG00000173145		0.303	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOC3L	HGNC	protein_coding	OTTHUMT00000049466.1	123	0.00	0	G	NM_022451		96121599	96121599	-1	no_errors	ENST00000371350	ensembl	human	known	69_37n	missense	108	24.31	35	SNP	1.000	A
NOC3L	64318	genome.wustl.edu	37	10	96121599	96121599	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr10:96121599G>A	ENST00000371361.3	-	2	140	c.40C>T	c.(40-42)Cgc>Tgc	p.R14C	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.R14C	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	14					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATTAACTTGCGAAAGCTTGGG	0.303																																						dbGAP											0													101.0	91.0	95.0					10																	96121599		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.40C>T	10.37:g.96121599G>A	ENSP00000360412:p.Arg14Cys		Q9H5M6|Q9H9D8	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3	p.R14C	ENST00000371361.3	37	c.40	CCDS7433.1	10	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409332	0.62399	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.13778	2.57;2.56	4.77	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	L	0.29908	0.895	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.01697	-1.1293	10	0.87932	D	0	-4.8348	12.9386	0.58329	0.0787:0.0:0.9213:0.0	.	14	Q8WTT2	NOC3L_HUMAN	C	14	ENSP00000360412:R14C;ENSP00000360401:R14C	ENSP00000360401:R14C	R	-	1	0	NOC3L	96111589	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	6.239000	0.72356	1.001000	0.39076	-0.258000	0.10820	CGC	NOC3L	-	pirsf_Nucleolar_cplx-assoc_3	ENSG00000173145		0.303	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOC3L	HGNC	protein_coding	OTTHUMT00000049466.1	107	0.00	0	G	NM_022451		96121599	96121599	-1	no_errors	ENST00000371350	ensembl	human	known	69_37n	missense	108	24.31	35	SNP	1.000	A
OBFC1	79991	genome.wustl.edu	37	10	105664860	105664860	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr10:105664860T>C	ENST00000224950.3	-	4	451	c.284A>G	c.(283-285)gAg>gGg	p.E95G	OBFC1_ENST00000369764.1_Missense_Mutation_p.E95G|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	95					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TGATACAGACTCAGTATTCAA	0.368																																						dbGAP											0													170.0	180.0	176.0					10																	105664860		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.284A>G	10.37:g.105664860T>C	ENSP00000224950:p.Glu95Gly		D3DR99|Q5TCZ0	Missense_Mutation	SNP	pfam_DUF1879_CST_STN1,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_CST_STN1	p.E95G	ENST00000224950.3	37	c.284	CCDS7552.1	10	.	.	.	.	.	.	.	.	.	.	T	10.81	1.456016	0.26161	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.33654	1.4;1.4	5.43	3.03	0.35002	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	3.536600	0.00695	N	0.000749	T	0.31918	0.0812	L	0.36672	1.1	0.09310	N	1	B	0.24317	0.101	B	0.28916	0.096	T	0.17107	-1.0380	10	0.23302	T	0.38	0.3169	5.1341	0.14926	0.1576:0.0861:0.0:0.7564	.	95	Q9H668	STN1_HUMAN	G	95	ENSP00000224950:E95G;ENSP00000358779:E95G	ENSP00000224950:E95G	E	-	2	0	OBFC1	105654850	0.001000	0.12720	0.004000	0.12327	0.350000	0.29205	0.930000	0.28858	0.419000	0.25927	0.459000	0.35465	GAG	OBFC1	-	pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_CST_STN1	ENSG00000107960		0.368	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OBFC1	HGNC	protein_coding	OTTHUMT00000050174.1	278	0.00	0	T	NM_024928		105664860	105664860	-1	no_errors	ENST00000224950	ensembl	human	known	69_37n	missense	133	16.88	27	SNP	0.004	C
OBFC1	79991	genome.wustl.edu	37	10	105664860	105664860	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr10:105664860T>C	ENST00000224950.3	-	4	451	c.284A>G	c.(283-285)gAg>gGg	p.E95G	OBFC1_ENST00000369764.1_Missense_Mutation_p.E95G|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	95					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TGATACAGACTCAGTATTCAA	0.368																																						dbGAP											0													170.0	180.0	176.0					10																	105664860		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.284A>G	10.37:g.105664860T>C	ENSP00000224950:p.Glu95Gly		D3DR99|Q5TCZ0	Missense_Mutation	SNP	pfam_DUF1879_CST_STN1,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_CST_STN1	p.E95G	ENST00000224950.3	37	c.284	CCDS7552.1	10	.	.	.	.	.	.	.	.	.	.	T	10.81	1.456016	0.26161	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.33654	1.4;1.4	5.43	3.03	0.35002	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	3.536600	0.00695	N	0.000749	T	0.31918	0.0812	L	0.36672	1.1	0.09310	N	1	B	0.24317	0.101	B	0.28916	0.096	T	0.17107	-1.0380	10	0.23302	T	0.38	0.3169	5.1341	0.14926	0.1576:0.0861:0.0:0.7564	.	95	Q9H668	STN1_HUMAN	G	95	ENSP00000224950:E95G;ENSP00000358779:E95G	ENSP00000224950:E95G	E	-	2	0	OBFC1	105654850	0.001000	0.12720	0.004000	0.12327	0.350000	0.29205	0.930000	0.28858	0.419000	0.25927	0.459000	0.35465	GAG	OBFC1	-	pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_CST_STN1	ENSG00000107960		0.368	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OBFC1	HGNC	protein_coding	OTTHUMT00000050174.1	342	0.00	0	T	NM_024928		105664860	105664860	-1	no_errors	ENST00000224950	ensembl	human	known	69_37n	missense	133	16.88	27	SNP	0.004	C
PCDHB16	57717	genome.wustl.edu	37	5	140563931	140563931	+	Silent	SNP	T	T	C	rs13158239	byFrequency	TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr5:140563931T>C	ENST00000361016.2	+	1	2952	c.1797T>C	c.(1795-1797)aaT>aaC	p.N599N		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	599	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGCCAGAATGCCTGGCTGT	0.711																																						dbGAP											0													25.0	26.0	26.0					5																	140563931		2066	3853	5919	-	-	-	SO:0001819	synonymous_variant	0			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1797T>C	5.37:g.140563931T>C			B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N599	ENST00000361016.2	37	c.1797	CCDS4251.1	5																																																																																			PCDHB16	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196963		0.711	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	12	0.00	0	T	NM_020957		140563931	140563931	+1	no_errors	ENST00000361016	ensembl	human	known	69_37n	silent	7	53.33	8	SNP	0.988	C
PCDHGA3	56112	genome.wustl.edu	37	5	140724038	140724038	+	Silent	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr5:140724038G>A	ENST00000253812.6	+	1	438	c.438G>A	c.(436-438)acG>acA	p.T146T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	146	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T146T(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAACTAACGGTTCCTGGAA	0.353																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											49.0	48.0	48.0					5																	140724038		1851	4103	5954	-	-	-	SO:0001819	synonymous_variant	0			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.438G>A	5.37:g.140724038G>A			Q9Y5D4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T146	ENST00000253812.6	37	c.438	CCDS47290.1	5																																																																																			PCDHGA3	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000254245		0.353	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	152	0.00	0	G	NM_018916		140724038	140724038	+1	no_errors	ENST00000253812	ensembl	human	known	69_37n	silent	104	14.75	18	SNP	0.000	A
PCDHGA3	56112	genome.wustl.edu	37	5	140724038	140724038	+	Silent	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr5:140724038G>A	ENST00000253812.6	+	1	438	c.438G>A	c.(436-438)acG>acA	p.T146T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	146	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T146T(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAACTAACGGTTCCTGGAA	0.353																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											49.0	48.0	48.0					5																	140724038		1851	4103	5954	-	-	-	SO:0001819	synonymous_variant	0			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.438G>A	5.37:g.140724038G>A			Q9Y5D4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T146	ENST00000253812.6	37	c.438	CCDS47290.1	5																																																																																			PCDHGA3	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000254245		0.353	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	115	0.00	0	G	NM_018916		140724038	140724038	+1	no_errors	ENST00000253812	ensembl	human	known	69_37n	silent	104	14.75	18	SNP	0.000	A
TENM2	57451	genome.wustl.edu	37	5	167671462	167671462	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr5:167671462G>A	ENST00000518659.1	+	26	5597	c.5558G>A	c.(5557-5559)cGa>cAa	p.R1853Q	TENM2_ENST00000545108.1_Missense_Mutation_p.R1852Q|TENM2_ENST00000520394.1_Missense_Mutation_p.R1614Q|TENM2_ENST00000519204.1_Missense_Mutation_p.R1732Q|TENM2_ENST00000403607.2_Missense_Mutation_p.R1677Q	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1853					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GACTATGATCGAAATATTCGG	0.507																																						dbGAP											0													66.0	60.0	62.0					5																	167671462		1900	4128	6028	-	-	-	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5558G>A	5.37:g.167671462G>A	ENSP00000429430:p.Arg1853Gln		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R1853Q	ENST00000518659.1	37	c.5558		5	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749284	0.89753	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.88818	-1.96;-1.95;-2.06;-2.41;-2.43	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.92922	0.7748	L	0.60845	1.875	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.975	D	0.91478	0.5202	10	0.28530	T	0.3	.	17.8465	0.88731	0.0:0.0:1.0:0.0	.	1852;1853;1614	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	Q	1853;1852;1732;1614;1677	ENSP00000429430:R1853Q;ENSP00000438635:R1852Q;ENSP00000428964:R1732Q;ENSP00000427874:R1614Q;ENSP00000384905:R1677Q	ENSP00000384905:R1677Q	R	+	2	0	ODZ2	167604040	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.965000	0.87945	2.214000	0.71695	0.561000	0.74099	CGA	ODZ2	-	superfamily_ConA-like_lec_gl	ENSG00000145934		0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ODZ2	HGNC	protein_coding	OTTHUMT00000376096.1	31	0.00	0	G	NM_001122679		167671462	167671462	+1	no_errors	ENST00000518659	ensembl	human	known	69_37n	missense	13	40.91	9	SNP	1.000	A
TENM2	57451	genome.wustl.edu	37	5	167671462	167671462	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr5:167671462G>A	ENST00000518659.1	+	26	5597	c.5558G>A	c.(5557-5559)cGa>cAa	p.R1853Q	TENM2_ENST00000545108.1_Missense_Mutation_p.R1852Q|TENM2_ENST00000520394.1_Missense_Mutation_p.R1614Q|TENM2_ENST00000519204.1_Missense_Mutation_p.R1732Q|TENM2_ENST00000403607.2_Missense_Mutation_p.R1677Q	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1853					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GACTATGATCGAAATATTCGG	0.507																																						dbGAP											0													66.0	60.0	62.0					5																	167671462		1900	4128	6028	-	-	-	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5558G>A	5.37:g.167671462G>A	ENSP00000429430:p.Arg1853Gln		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R1853Q	ENST00000518659.1	37	c.5558		5	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749284	0.89753	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.88818	-1.96;-1.95;-2.06;-2.41;-2.43	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.92922	0.7748	L	0.60845	1.875	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.975	D	0.91478	0.5202	10	0.28530	T	0.3	.	17.8465	0.88731	0.0:0.0:1.0:0.0	.	1852;1853;1614	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	Q	1853;1852;1732;1614;1677	ENSP00000429430:R1853Q;ENSP00000438635:R1852Q;ENSP00000428964:R1732Q;ENSP00000427874:R1614Q;ENSP00000384905:R1677Q	ENSP00000384905:R1677Q	R	+	2	0	ODZ2	167604040	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.965000	0.87945	2.214000	0.71695	0.561000	0.74099	CGA	ODZ2	-	superfamily_ConA-like_lec_gl	ENSG00000145934		0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ODZ2	HGNC	protein_coding	OTTHUMT00000376096.1	23	0.00	0	G	NM_001122679		167671462	167671462	+1	no_errors	ENST00000518659	ensembl	human	known	69_37n	missense	13	40.91	9	SNP	1.000	A
PLCL2	23228	genome.wustl.edu	37	3	17052713	17052713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr3:17052713C>A	ENST00000418129.2	+	2	1962	c.1497C>A	c.(1495-1497)tgC>tgA	p.C499*	PLCL2_ENST00000432376.1_Nonsense_Mutation_p.C499*|PLCL2_ENST00000396755.2_Nonsense_Mutation_p.C499*	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	625	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TCAGCATCTGCAAATCAGTTC	0.438																																						dbGAP											0													83.0	87.0	86.0					3																	17052713		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1497C>A	3.37:g.17052713C>A	ENSP00000409637:p.Cys499*		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Nonsense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.C499*	ENST00000418129.2	37	c.1497	CCDS33713.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.930630|6.930630	0.97944|0.97944	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|.	.|.	.|.	5.63|5.63	-4.89|-4.89	0.03103|0.03103	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.31167|.	0.0788|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39121|.	-0.9629|.	3|.	.|0.02654	.|T	.|1	.|.	16.7246|16.7246	0.85418|0.85418	0.0:0.2334:0.0:0.7666|0.0:0.2334:0.0:0.7666	.|.	.|.	.|.	.|.	E|X	243|499;626;499;499	.|.	.|ENSP00000285094:C626X	A|C	+|+	2|3	0|2	PLCL2|PLCL2	17027717|17027717	0.769000|0.769000	0.28531|0.28531	0.190000|0.190000	0.23270|0.23270	0.967000|0.967000	0.64934|0.64934	-0.093000|-0.093000	0.11111|0.11111	-1.215000|-1.215000	0.02610|0.02610	-0.355000|-0.355000	0.07637|0.07637	GCA|TGC	PLCL2	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000154822		0.438	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	126	0.00	0	C			17052713	17052713	+1	no_errors	ENST00000418129	ensembl	human	known	69_37n	nonsense	88	21.43	24	SNP	0.869	A
PLCL2	23228	genome.wustl.edu	37	3	17052713	17052713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr3:17052713C>A	ENST00000418129.2	+	2	1962	c.1497C>A	c.(1495-1497)tgC>tgA	p.C499*	PLCL2_ENST00000432376.1_Nonsense_Mutation_p.C499*|PLCL2_ENST00000396755.2_Nonsense_Mutation_p.C499*	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	625	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TCAGCATCTGCAAATCAGTTC	0.438																																						dbGAP											0													83.0	87.0	86.0					3																	17052713		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1497C>A	3.37:g.17052713C>A	ENSP00000409637:p.Cys499*		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Nonsense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.C499*	ENST00000418129.2	37	c.1497	CCDS33713.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.930630|6.930630	0.97944|0.97944	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|.	.|.	.|.	5.63|5.63	-4.89|-4.89	0.03103|0.03103	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.31167|.	0.0788|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39121|.	-0.9629|.	3|.	.|0.02654	.|T	.|1	.|.	16.7246|16.7246	0.85418|0.85418	0.0:0.2334:0.0:0.7666|0.0:0.2334:0.0:0.7666	.|.	.|.	.|.	.|.	E|X	243|499;626;499;499	.|.	.|ENSP00000285094:C626X	A|C	+|+	2|3	0|2	PLCL2|PLCL2	17027717|17027717	0.769000|0.769000	0.28531|0.28531	0.190000|0.190000	0.23270|0.23270	0.967000|0.967000	0.64934|0.64934	-0.093000|-0.093000	0.11111|0.11111	-1.215000|-1.215000	0.02610|0.02610	-0.355000|-0.355000	0.07637|0.07637	GCA|TGC	PLCL2	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000154822		0.438	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	86	0.00	0	C			17052713	17052713	+1	no_errors	ENST00000418129	ensembl	human	known	69_37n	nonsense	88	21.43	24	SNP	0.869	A
PIK3CA	5290	genome.wustl.edu	37	3	178951964	178951964	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr3:178951964G>C	ENST00000263967.3	+	21	3176	c.3019G>C	c.(3019-3021)Ggc>Cgc	p.G1007R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1007	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		G -> R (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.		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.G1007R(8)		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)	AATGATGCTTGGCTCTGGAAT	0.378		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"""	8	Substitution - Missense(8)	lung(3)|endometrium(3)|urinary_tract(1)|large_intestine(1)											114.0	103.0	106.0					3																	178951964		1886	4108	5994	-	-	-	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.3019G>C	3.37:g.178951964G>C	ENSP00000263967:p.Gly1007Arg		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.G1007R	ENST00000263967.3	37	c.3019	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856328	0.71834	.	.	ENSG00000121879	ENST00000263967	T	0.79749	-1.3	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.112145	0.64402	D	0.000010	D	0.84844	0.5562	L	0.46947	1.48	0.80722	D	1	D	0.62365	0.991	P	0.56398	0.797	D	0.83385	0.0014	10	0.41790	T	0.15	-8.1028	20.0716	0.97726	0.0:0.0:1.0:0.0	.	1007	P42336	PK3CA_HUMAN	R	1007	ENSP00000263967:G1007R	ENSP00000263967:G1007R	G	+	1	0	PIK3CA	180434658	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.237000	0.95368	2.741000	0.93983	0.585000	0.79938	GGC	PIK3CA	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	168	0.00	0	G			178951964	178951964	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	162	35.20	88	SNP	1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178951964	178951964	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr3:178951964G>C	ENST00000263967.3	+	21	3176	c.3019G>C	c.(3019-3021)Ggc>Cgc	p.G1007R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1007	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		G -> R (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.		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.G1007R(8)		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)	AATGATGCTTGGCTCTGGAAT	0.378		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"""	8	Substitution - Missense(8)	lung(3)|endometrium(3)|urinary_tract(1)|large_intestine(1)											114.0	103.0	106.0					3																	178951964		1886	4108	5994	-	-	-	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.3019G>C	3.37:g.178951964G>C	ENSP00000263967:p.Gly1007Arg		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.G1007R	ENST00000263967.3	37	c.3019	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856328	0.71834	.	.	ENSG00000121879	ENST00000263967	T	0.79749	-1.3	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.112145	0.64402	D	0.000010	D	0.84844	0.5562	L	0.46947	1.48	0.80722	D	1	D	0.62365	0.991	P	0.56398	0.797	D	0.83385	0.0014	10	0.41790	T	0.15	-8.1028	20.0716	0.97726	0.0:0.0:1.0:0.0	.	1007	P42336	PK3CA_HUMAN	R	1007	ENSP00000263967:G1007R	ENSP00000263967:G1007R	G	+	1	0	PIK3CA	180434658	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.237000	0.95368	2.741000	0.93983	0.585000	0.79938	GGC	PIK3CA	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	297	0.00	0	G			178951964	178951964	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	162	35.20	88	SNP	1.000	C
PRUNE2	158471	genome.wustl.edu	37	9	79259823	79259823	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr9:79259823G>T	ENST00000376718.3	-	12	8683	c.8560C>A	c.(8560-8562)Ccc>Acc	p.P2854T	PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000223609.6_Missense_Mutation_p.P119T|PRUNE2_ENST00000428286.1_Missense_Mutation_p.P2496T|PRUNE2_ENST00000443509.2_Missense_Mutation_p.P103T	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2854					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTGGCTGTGGGATCTTCTGGA	0.493																																						dbGAP											0													75.0	64.0	67.0					9																	79259823		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8560C>A	9.37:g.79259823G>T	ENSP00000365908:p.Pro2854Thr		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.P2496T	ENST00000376718.3	37	c.7486	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.70|11.70	1.718287|1.718287	0.30503|0.30503	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000424866;ENST00000223609;ENST00000422033|ENST00000426088	T;T;T;T;T;T|.	0.56275|.	0.86;0.76;0.85;0.81;0.47;0.87|.	6.06|6.06	-4.29|-4.29	0.03721|0.03721	.|.	0.890466|.	0.09875|.	N|.	0.744396|.	T|T	0.53174|0.53174	0.1780|0.1780	M|M	0.64404|0.64404	1.975|1.975	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;B|.	0.26902|.	0.0;0.002;0.001;0.024;0.163|.	B;B;B;B;B|.	0.30105|.	0.007;0.016;0.003;0.037;0.111|.	T|T	0.54098|0.54098	-0.8344|-0.8344	10|5	0.21014|.	T|.	0.42|.	0.9635|0.9635	17.1299|17.1299	0.86724|0.86724	0.111:0.0:0.889:0.0|0.111:0.0:0.889:0.0	.|.	119;118;103;2855;2854|.	B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3-3;Q8WUY3|.	.;.;.;.;PRUN2_HUMAN|.	T|Y	119;2854;2496;72;103;24;119;2854|2175	ENSP00000365907:P119T;ENSP00000365908:P2854T;ENSP00000397425:P2496T;ENSP00000393843:P103T;ENSP00000393657:P24T;ENSP00000223609:P119T|.	ENSP00000223609:P119T|.	P|S	-|-	1|2	0|0	PRUNE2|PRUNE2	78449643|78449643	0.222000|0.222000	0.23652|0.23652	0.005000|0.005000	0.12908|0.12908	0.934000|0.934000	0.57294|0.57294	1.074000|1.074000	0.30703|0.30703	-1.340000|-1.340000	0.02227|0.02227	-0.806000|-0.806000	0.03193|0.03193	CCC|TCC	PRUNE2	-	pfam_Bcl2-/adenovirus-E1B	ENSG00000106772		0.493	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	90	0.00	0	G	NM_138818		79259823	79259823	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	64	16.88	13	SNP	0.030	T
PRUNE2	158471	genome.wustl.edu	37	9	79259823	79259823	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr9:79259823G>T	ENST00000376718.3	-	12	8683	c.8560C>A	c.(8560-8562)Ccc>Acc	p.P2854T	PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000223609.6_Missense_Mutation_p.P119T|PRUNE2_ENST00000428286.1_Missense_Mutation_p.P2496T|PRUNE2_ENST00000443509.2_Missense_Mutation_p.P103T	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2854					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTGGCTGTGGGATCTTCTGGA	0.493																																						dbGAP											0													75.0	64.0	67.0					9																	79259823		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8560C>A	9.37:g.79259823G>T	ENSP00000365908:p.Pro2854Thr		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.P2496T	ENST00000376718.3	37	c.7486	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.70|11.70	1.718287|1.718287	0.30503|0.30503	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000424866;ENST00000223609;ENST00000422033|ENST00000426088	T;T;T;T;T;T|.	0.56275|.	0.86;0.76;0.85;0.81;0.47;0.87|.	6.06|6.06	-4.29|-4.29	0.03721|0.03721	.|.	0.890466|.	0.09875|.	N|.	0.744396|.	T|T	0.53174|0.53174	0.1780|0.1780	M|M	0.64404|0.64404	1.975|1.975	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;B|.	0.26902|.	0.0;0.002;0.001;0.024;0.163|.	B;B;B;B;B|.	0.30105|.	0.007;0.016;0.003;0.037;0.111|.	T|T	0.54098|0.54098	-0.8344|-0.8344	10|5	0.21014|.	T|.	0.42|.	0.9635|0.9635	17.1299|17.1299	0.86724|0.86724	0.111:0.0:0.889:0.0|0.111:0.0:0.889:0.0	.|.	119;118;103;2855;2854|.	B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3-3;Q8WUY3|.	.;.;.;.;PRUN2_HUMAN|.	T|Y	119;2854;2496;72;103;24;119;2854|2175	ENSP00000365907:P119T;ENSP00000365908:P2854T;ENSP00000397425:P2496T;ENSP00000393843:P103T;ENSP00000393657:P24T;ENSP00000223609:P119T|.	ENSP00000223609:P119T|.	P|S	-|-	1|2	0|0	PRUNE2|PRUNE2	78449643|78449643	0.222000|0.222000	0.23652|0.23652	0.005000|0.005000	0.12908|0.12908	0.934000|0.934000	0.57294|0.57294	1.074000|1.074000	0.30703|0.30703	-1.340000|-1.340000	0.02227|0.02227	-0.806000|-0.806000	0.03193|0.03193	CCC|TCC	PRUNE2	-	pfam_Bcl2-/adenovirus-E1B	ENSG00000106772		0.493	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	87	0.00	0	G	NM_138818		79259823	79259823	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	64	16.88	13	SNP	0.030	T
PTHLH	5744	genome.wustl.edu	37	12	28114898	28114898	+	Intron	DEL	T	T	-	rs377014358		TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr12:28114898delT	ENST00000545234.1	-	5	1065				PTHLH_ENST00000354417.3_Frame_Shift_Del_p.K186fs|PTHLH_ENST00000395872.1_Intron|PTHLH_ENST00000538310.1_Frame_Shift_Del_p.K186fs|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000539239.1_Intron			P12272	PTHR_HUMAN	parathyroid hormone-like hormone						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GTTGTTTTCCTTTTTTTTTTT	0.333																																						dbGAP											0													16.0	16.0	16.0					12																	28114898		875	1991	2866	-	-	-	SO:0001627	intron_variant	0				CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.524+1382A>-	12.37:g.28114898delT			Q15251|Q6FH74	Frame_Shift_Del	DEL	pfam_PTH/PTH-rel,smart_PTH/PTH-rel	p.K186fs	ENST00000545234.1	37	c.557	CCDS44853.1	12																																																																																			PTHLH	-	NULL	ENSG00000087494		0.333	PTHLH-001	KNOWN	basic|CCDS	protein_coding	PTHLH	HGNC	protein_coding	OTTHUMT00000402913.1	25	0.00	0	T	NM_198965		28114898	28114898	-1	no_errors	ENST00000354417	ensembl	human	known	69_37n	frame_shift_del	22	15.38	4	DEL	0.135	-
RIMS2	9699	genome.wustl.edu	37	8	104709351	104709351	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr8:104709351G>A	ENST00000406091.3	+	2	214	c.214G>A	c.(214-216)Gta>Ata	p.V72I		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	103	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAAAGAGCAGGTAAAGAAGAT	0.393										HNSCC(12;0.0054)																												dbGAP											0													87.0	86.0	87.0					8																	104709351		1910	4122	6032	-	-	-	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.214G>A	8.37:g.104709351G>A	ENSP00000384892:p.Val72Ile		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.V72I	ENST00000406091.3	37	c.214	CCDS55269.1	8	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075992	0.76415	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.38722	1.12;1.12	5.57	5.57	0.84162	.	.	.	.	.	T	0.59293	0.2183	L	0.46157	1.445	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.51601	-0.8685	9	0.31617	T	0.26	.	19.6154	0.95632	0.0:0.0:1.0:0.0	.	72	F8WD47	.	I	72;103;72;103	ENSP00000427018:V72I;ENSP00000384892:V72I	ENSP00000332184:V103I	V	+	1	0	RIMS2	104778527	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.059000	0.89462	2.630000	0.89119	0.556000	0.70494	GTA	RIMS2	-	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	ENSG00000176406		0.393	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS2	HGNC	protein_coding		268	0.00	0	G	NM_001100117		104709351	104709351	+1	no_errors	ENST00000406091	ensembl	human	known	69_37n	missense	327	10.66	39	SNP	1.000	A
RIMS2	9699	genome.wustl.edu	37	8	104709351	104709351	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr8:104709351G>A	ENST00000406091.3	+	2	214	c.214G>A	c.(214-216)Gta>Ata	p.V72I		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	103	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAAAGAGCAGGTAAAGAAGAT	0.393										HNSCC(12;0.0054)																												dbGAP											0													87.0	86.0	87.0					8																	104709351		1910	4122	6032	-	-	-	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.214G>A	8.37:g.104709351G>A	ENSP00000384892:p.Val72Ile		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.V72I	ENST00000406091.3	37	c.214	CCDS55269.1	8	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075992	0.76415	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.38722	1.12;1.12	5.57	5.57	0.84162	.	.	.	.	.	T	0.59293	0.2183	L	0.46157	1.445	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.51601	-0.8685	9	0.31617	T	0.26	.	19.6154	0.95632	0.0:0.0:1.0:0.0	.	72	F8WD47	.	I	72;103;72;103	ENSP00000427018:V72I;ENSP00000384892:V72I	ENSP00000332184:V103I	V	+	1	0	RIMS2	104778527	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.059000	0.89462	2.630000	0.89119	0.556000	0.70494	GTA	RIMS2	-	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	ENSG00000176406		0.393	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS2	HGNC	protein_coding		245	0.00	0	G	NM_001100117		104709351	104709351	+1	no_errors	ENST00000406091	ensembl	human	known	69_37n	missense	327	10.66	39	SNP	1.000	A
SHROOM2	357	genome.wustl.edu	37	X	9905450	9905451	+	Frame_Shift_Ins	INS	-	-	C	rs200823186		TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chrX:9905450_9905451insC	ENST00000380913.3	+	7	3954_3955	c.3864_3865insC	c.(3865-3867)cccfs	p.P1289fs	SHROOM2_ENST00000418909.2_Frame_Shift_Ins_p.P124fs	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1289					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCACCCAGGTGCCCCCCGAGAA	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3870dupC	X.37:g.9905456_9905456dupC	ENSP00000370299:p.Pro1289fs		B9EIQ7	Frame_Shift_Ins	INS	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1290fs	ENST00000380913.3	37	c.3864_3865	CCDS14135.1	X																																																																																			SHROOM2	-	NULL	ENSG00000146950		0.653	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	13	0.00	0	-	NM_001649		9905450	9905451	+1	no_errors	ENST00000380913	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	0.000:0.001	C
TTN	7273	genome.wustl.edu	37	2	179604078	179604078	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr2:179604078A>G	ENST00000591111.1	-	46	13155	c.12931T>C	c.(12931-12933)Tcc>Ccc	p.S4311P	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S4457P|TTN_ENST00000589042.1_Missense_Mutation_p.S4628P|TTN_ENST00000359218.5_Missense_Mutation_p.S4390P|TTN_ENST00000460472.2_Missense_Mutation_p.S4265P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12074	Ig-like 23.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTTATGGATGTTGTGAGG	0.393																																						dbGAP											0													147.0	131.0	136.0					2																	179604078		1916	4134	6050	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12931T>C	2.37:g.179604078A>G	ENSP00000465570:p.Ser4311Pro		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S4457P	ENST00000591111.1	37	c.13369		2	.	.	.	.	.	.	.	.	.	.	A	11.85	1.762169	0.31228	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.67865	-0.29;-0.29;-0.29	5.93	2.09	0.27110	.	.	.	.	.	T	0.63141	0.2486	M	0.71036	2.16	0.09310	N	1	B;B;B	0.24576	0.106;0.106;0.106	B;B;B	0.34346	0.18;0.18;0.18	T	0.61931	-0.6961	9	0.87932	D	0	.	1.34	0.02153	0.4391:0.2587:0.1798:0.1225	.	4265;4390;4457	D3DPF9;E7EQE6;E7ET18	.;.;.	P	4265;4457;4390;4265	ENSP00000434586:S4265P;ENSP00000340554:S4457P;ENSP00000352154:S4390P	ENSP00000340554:S4457P	S	-	1	0	TTN	179312323	0.991000	0.36638	0.956000	0.39512	0.983000	0.72400	2.326000	0.43849	1.077000	0.40990	0.533000	0.62120	TCC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	192	0.00	0	A	NM_133378		179604078	179604078	-1	no_errors	ENST00000342175	ensembl	human	known	69_37n	missense	168	12.04	23	SNP	0.222	G
TTN	7273	genome.wustl.edu	37	2	179604078	179604078	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr2:179604078A>G	ENST00000591111.1	-	46	13155	c.12931T>C	c.(12931-12933)Tcc>Ccc	p.S4311P	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S4457P|TTN_ENST00000589042.1_Missense_Mutation_p.S4628P|TTN_ENST00000359218.5_Missense_Mutation_p.S4390P|TTN_ENST00000460472.2_Missense_Mutation_p.S4265P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12074	Ig-like 23.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTTATGGATGTTGTGAGG	0.393																																						dbGAP											0													147.0	131.0	136.0					2																	179604078		1916	4134	6050	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12931T>C	2.37:g.179604078A>G	ENSP00000465570:p.Ser4311Pro		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S4457P	ENST00000591111.1	37	c.13369		2	.	.	.	.	.	.	.	.	.	.	A	11.85	1.762169	0.31228	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.67865	-0.29;-0.29;-0.29	5.93	2.09	0.27110	.	.	.	.	.	T	0.63141	0.2486	M	0.71036	2.16	0.09310	N	1	B;B;B	0.24576	0.106;0.106;0.106	B;B;B	0.34346	0.18;0.18;0.18	T	0.61931	-0.6961	9	0.87932	D	0	.	1.34	0.02153	0.4391:0.2587:0.1798:0.1225	.	4265;4390;4457	D3DPF9;E7EQE6;E7ET18	.;.;.	P	4265;4457;4390;4265	ENSP00000434586:S4265P;ENSP00000340554:S4457P;ENSP00000352154:S4390P	ENSP00000340554:S4457P	S	-	1	0	TTN	179312323	0.991000	0.36638	0.956000	0.39512	0.983000	0.72400	2.326000	0.43849	1.077000	0.40990	0.533000	0.62120	TCC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	154	0.00	0	A	NM_133378		179604078	179604078	-1	no_errors	ENST00000342175	ensembl	human	known	69_37n	missense	168	12.04	23	SNP	0.222	G
USP54	159195	genome.wustl.edu	37	10	75277121	75277121	+	Silent	SNP	A	A	C			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr10:75277121A>C	ENST00000339859.4	-	19	3163	c.3063T>G	c.(3061-3063)gcT>gcG	p.A1021A	USP54_ENST00000428547.1_Silent_p.A871A|USP54_ENST00000408019.1_Silent_p.A1021A|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000422491.2_Silent_p.A203A|USP54_ENST00000394811.2_Silent_p.A109A|RP11-137L10.6_ENST00000597958.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1021					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GCTGTTCTTGAGCAATGCCTC	0.547																																					Colon(195;880 2046 8854 25025 38456)	dbGAP											0													117.0	118.0	118.0					10																	75277121		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.3063T>G	10.37:g.75277121A>C			A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.A1021	ENST00000339859.4	37	c.3063	CCDS7329.2	10																																																																																			USP54	-	NULL	ENSG00000166348		0.547	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2	81	0.00	0	A	NM_152586		75277121	75277121	-1	no_errors	ENST00000339859	ensembl	human	known	69_37n	silent	51	16.39	10	SNP	0.800	C
USP54	159195	genome.wustl.edu	37	10	75277121	75277121	+	Silent	SNP	A	A	C			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr10:75277121A>C	ENST00000339859.4	-	19	3163	c.3063T>G	c.(3061-3063)gcT>gcG	p.A1021A	USP54_ENST00000428547.1_Silent_p.A871A|USP54_ENST00000408019.1_Silent_p.A1021A|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000422491.2_Silent_p.A203A|USP54_ENST00000394811.2_Silent_p.A109A|RP11-137L10.6_ENST00000597958.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1021					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GCTGTTCTTGAGCAATGCCTC	0.547																																					Colon(195;880 2046 8854 25025 38456)	dbGAP											0													117.0	118.0	118.0					10																	75277121		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.3063T>G	10.37:g.75277121A>C			A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.A1021	ENST00000339859.4	37	c.3063	CCDS7329.2	10																																																																																			USP54	-	NULL	ENSG00000166348		0.547	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2	137	0.00	0	A	NM_152586		75277121	75277121	-1	no_errors	ENST00000339859	ensembl	human	known	69_37n	silent	51	16.39	10	SNP	0.800	C
TSIX	9383	genome.wustl.edu	37	X	73043145	73043145	+	lincRNA	DEL	T	T	-	rs375977945		TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chrX:73043145delT	ENST00000604411.1	+	0	31106				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		tttttctttcttttttttttt	0.348													|||unknown(HR)	989	0.261987	0.3207	0.2032	3775	,	,		11900	0.1071		0.1491	False		,,,				2504	0.1697					dbGAP											0													2.0	2.0	2.0					X																	73043145		660	1494	2154	-	-	-			0					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73043145delT				RNA	DEL	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-	ENSG00000229807		0.348	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	25	0.00	0	T	NR_003255		73043145	73043145	-1	no_errors	ENST00000429829	ensembl	human	known	69_37n	rna	70	13.25	11	DEL	0.001	-
ZNF124	7678	genome.wustl.edu	37	1	247320267	247320267	+	Silent	SNP	A	A	G			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-11A-22W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	50589b20-69ac-484a-9fe8-d988a891d86e	g.chr1:247320267A>G	ENST00000543802.2	-	4	746	c.657T>C	c.(655-657)aaT>aaC	p.N219N	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000340684.6_Silent_p.N157N			Q15973	ZN124_HUMAN	zinc finger protein 124	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			AATGAAGGCAATTGGAGTAAC	0.448																																						dbGAP											0													126.0	124.0	124.0					1																	247320267		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.657T>C	1.37:g.247320267A>G			B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N219	ENST00000543802.2	37	c.657		1																																																																																			ZNF124	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196418		0.448	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	ZNF124	HGNC	protein_coding	OTTHUMT00000447393.1	243	0.00	0	A	NM_003431		247320267	247320267	-1	no_errors	ENST00000543802	ensembl	human	known	69_37n	silent	245	24.62	80	SNP	0.009	G
ZNF124	7678	genome.wustl.edu	37	1	247320267	247320267	+	Silent	SNP	A	A	G			TCGA-BH-A0H9-01A-11W-A071-09	TCGA-BH-A0H9-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6be3dccb-12f8-4ef5-962f-21a0b26f81ad	71bbe21d-80fd-49be-ae4b-041f0ed1e617	g.chr1:247320267A>G	ENST00000543802.2	-	4	746	c.657T>C	c.(655-657)aaT>aaC	p.N219N	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000340684.6_Silent_p.N157N			Q15973	ZN124_HUMAN	zinc finger protein 124	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			AATGAAGGCAATTGGAGTAAC	0.448																																						dbGAP											0													126.0	124.0	124.0					1																	247320267		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.657T>C	1.37:g.247320267A>G			B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N219	ENST00000543802.2	37	c.657		1																																																																																			ZNF124	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196418		0.448	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	ZNF124	HGNC	protein_coding	OTTHUMT00000447393.1	196	0.00	0	A	NM_003431		247320267	247320267	-1	no_errors	ENST00000543802	ensembl	human	known	69_37n	silent	245	24.62	80	SNP	0.009	G
