#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACTB	60	genome.wustl.edu	37	7	5569207	5569207	+	Silent	SNP	G	G	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr7:5569207G>T	ENST00000331789.5	-	2	273	c.82C>A	c.(82-84)Cgg>Agg	p.R28R	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	28					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AAGACGGCCCGGGGGGCATCG	0.706																																						dbGAP											0													13.0	16.0	15.0					7																	5569207		2095	4154	6249	-	-	-	SO:0001819	synonymous_variant	0			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.82C>A	7.37:g.5569207G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.R28	ENST00000331789.5	37	c.82	CCDS5341.1	7																																																																																			ACTB	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like	ENSG00000075624		0.706	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	HGNC	protein_coding	OTTHUMT00000059589.4	11	0.00	0	G	NM_001101		5569207	5569207	-1	no_errors	ENST00000331789	ensembl	human	known	69_37n	silent	15	28.57	6	SNP	1.000	T
ACTB	60	genome.wustl.edu	37	7	5569207	5569207	+	Silent	SNP	G	G	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr7:5569207G>T	ENST00000331789.5	-	2	273	c.82C>A	c.(82-84)Cgg>Agg	p.R28R	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	28					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AAGACGGCCCGGGGGGCATCG	0.706																																						dbGAP											0													13.0	16.0	15.0					7																	5569207		2095	4154	6249	-	-	-	SO:0001819	synonymous_variant	0			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.82C>A	7.37:g.5569207G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.R28	ENST00000331789.5	37	c.82	CCDS5341.1	7																																																																																			ACTB	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like	ENSG00000075624		0.706	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	HGNC	protein_coding	OTTHUMT00000059589.4	19	0.00	0	G	NM_001101		5569207	5569207	-1	no_errors	ENST00000331789	ensembl	human	known	69_37n	silent	15	28.57	6	SNP	1.000	T
AHNAK	79026	genome.wustl.edu	37	11	62297977	62297977	+	Silent	SNP	T	T	C			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr11:62297977T>C	ENST00000378024.4	-	5	4186	c.3912A>G	c.(3910-3912)ggA>ggG	p.G1304G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1304					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTCAGCTTTCCTTCCGGGC	0.532																																						dbGAP											0													138.0	148.0	144.0					11																	62297977		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3912A>G	11.37:g.62297977T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G1304	ENST00000378024.4	37	c.3912	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	279	0.35	1	T	NM_024060		62297977	62297977	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	silent	227	45.06	187	SNP	0.492	C
AHNAK	79026	genome.wustl.edu	37	11	62297977	62297977	+	Silent	SNP	T	T	C			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr11:62297977T>C	ENST00000378024.4	-	5	4186	c.3912A>G	c.(3910-3912)ggA>ggG	p.G1304G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1304					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTCAGCTTTCCTTCCGGGC	0.532																																						dbGAP											0													138.0	148.0	144.0					11																	62297977		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3912A>G	11.37:g.62297977T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G1304	ENST00000378024.4	37	c.3912	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	397	0.00	0	T	NM_024060		62297977	62297977	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	silent	227	45.06	187	SNP	0.492	C
AKAP8L	26993	genome.wustl.edu	37	19	15511970	15511970	+	Silent	SNP	G	G	C			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr19:15511970G>C	ENST00000397410.5	-	5	937	c.807C>G	c.(805-807)gcC>gcG	p.A269A	AKAP8L_ENST00000595465.2_Silent_p.A208A|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	269						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTCGGAAGTCGGCTGTGGTCC	0.652																																						dbGAP											0													105.0	116.0	112.0					19																	15511970		1987	4149	6136	-	-	-	SO:0001819	synonymous_variant	0			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.807C>G	19.37:g.15511970G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Silent	SNP	pfam_AKAP95	p.A269	ENST00000397410.5	37	c.807	CCDS46005.1	19																																																																																			AKAP8L	-	NULL	ENSG00000011243		0.652	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8L	HGNC	protein_coding	OTTHUMT00000461301.2	127	0.00	0	G	NM_014371		15511970	15511970	-1	no_errors	ENST00000397410	ensembl	human	known	69_37n	silent	101	30.34	44	SNP	0.003	C
AKAP8L	26993	genome.wustl.edu	37	19	15511970	15511970	+	Silent	SNP	G	G	C			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr19:15511970G>C	ENST00000397410.5	-	5	937	c.807C>G	c.(805-807)gcC>gcG	p.A269A	AKAP8L_ENST00000595465.2_Silent_p.A208A|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	269						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTCGGAAGTCGGCTGTGGTCC	0.652																																						dbGAP											0													105.0	116.0	112.0					19																	15511970		1987	4149	6136	-	-	-	SO:0001819	synonymous_variant	0			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.807C>G	19.37:g.15511970G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Silent	SNP	pfam_AKAP95	p.A269	ENST00000397410.5	37	c.807	CCDS46005.1	19																																																																																			AKAP8L	-	NULL	ENSG00000011243		0.652	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8L	HGNC	protein_coding	OTTHUMT00000461301.2	131	0.00	0	G	NM_014371		15511970	15511970	-1	no_errors	ENST00000397410	ensembl	human	known	69_37n	silent	101	30.34	44	SNP	0.003	C
ANK1	286	genome.wustl.edu	37	8	41582042	41582042	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr8:41582042G>A	ENST00000347528.4	-	7	726	c.643C>T	c.(643-645)Cac>Tac	p.H215Y	ANK1_ENST00000265709.8_Missense_Mutation_p.H248Y|ANK1_ENST00000379758.2_Missense_Mutation_p.H215Y|ANK1_ENST00000289734.7_Missense_Mutation_p.H215Y|ANK1_ENST00000396942.1_Missense_Mutation_p.H215Y|ANK1_ENST00000352337.4_Missense_Mutation_p.H215Y|ANK1_ENST00000396945.1_Missense_Mutation_p.H215Y	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	215	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTCTCGTAGTGAGCCGCAATG	0.552																																						dbGAP											0													36.0	34.0	35.0					8																	41582042		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.643C>T	8.37:g.41582042G>A	ENSP00000339620:p.His215Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.H215Y	ENST00000347528.4	37	c.643	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587780	0.86851	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.52	5.52	0.82312	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	N	0.00707	-1.245	0.80722	D	1	D;D;P;D;D	0.89917	0.999;0.999;0.802;1.0;1.0	D;D;B;D;D	0.97110	0.999;0.998;0.394;1.0;0.999	T	0.77376	-0.2611	10	0.66056	D	0.02	.	19.4423	0.94825	0.0:0.0:1.0:0.0	.	248;215;215;215;215	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	Y	215;215;215;215;215;215;248;215	ENSP00000339620:H215Y;ENSP00000289734:H215Y;ENSP00000369082:H215Y;ENSP00000380149:H215Y;ENSP00000380147:H215Y;ENSP00000309131:H215Y;ENSP00000265709:H248Y	ENSP00000265709:H248Y	H	-	1	0	ANK1	41701199	1.000000	0.71417	0.998000	0.56505	0.590000	0.36582	9.866000	0.99616	2.588000	0.87417	0.650000	0.86243	CAC	ANK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000029534		0.552	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	100	0.00	0	G	NM_020475		41582042	41582042	-1	no_errors	ENST00000396942	ensembl	human	known	69_37n	missense	26	55.17	32	SNP	1.000	A
ANK1	286	genome.wustl.edu	37	8	41582042	41582042	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr8:41582042G>A	ENST00000347528.4	-	7	726	c.643C>T	c.(643-645)Cac>Tac	p.H215Y	ANK1_ENST00000265709.8_Missense_Mutation_p.H248Y|ANK1_ENST00000379758.2_Missense_Mutation_p.H215Y|ANK1_ENST00000289734.7_Missense_Mutation_p.H215Y|ANK1_ENST00000396942.1_Missense_Mutation_p.H215Y|ANK1_ENST00000352337.4_Missense_Mutation_p.H215Y|ANK1_ENST00000396945.1_Missense_Mutation_p.H215Y	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	215	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTCTCGTAGTGAGCCGCAATG	0.552																																						dbGAP											0													36.0	34.0	35.0					8																	41582042		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.643C>T	8.37:g.41582042G>A	ENSP00000339620:p.His215Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.H215Y	ENST00000347528.4	37	c.643	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587780	0.86851	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.52	5.52	0.82312	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	N	0.00707	-1.245	0.80722	D	1	D;D;P;D;D	0.89917	0.999;0.999;0.802;1.0;1.0	D;D;B;D;D	0.97110	0.999;0.998;0.394;1.0;0.999	T	0.77376	-0.2611	10	0.66056	D	0.02	.	19.4423	0.94825	0.0:0.0:1.0:0.0	.	248;215;215;215;215	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	Y	215;215;215;215;215;215;248;215	ENSP00000339620:H215Y;ENSP00000289734:H215Y;ENSP00000369082:H215Y;ENSP00000380149:H215Y;ENSP00000380147:H215Y;ENSP00000309131:H215Y;ENSP00000265709:H248Y	ENSP00000265709:H248Y	H	-	1	0	ANK1	41701199	1.000000	0.71417	0.998000	0.56505	0.590000	0.36582	9.866000	0.99616	2.588000	0.87417	0.650000	0.86243	CAC	ANK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000029534		0.552	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	99	0.00	0	G	NM_020475		41582042	41582042	-1	no_errors	ENST00000396942	ensembl	human	known	69_37n	missense	26	55.17	32	SNP	1.000	A
ANK3	288	genome.wustl.edu	37	10	61946501	61946501	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr10:61946501C>G	ENST00000280772.2	-	17	2248	c.2057G>C	c.(2056-2058)aGa>aCa	p.R686T	ANK3_ENST00000503366.1_Missense_Mutation_p.R669T|ANK3_ENST00000373827.2_Missense_Mutation_p.R680T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	686					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTCGCATTTCTACCGAGGAG	0.507																																						dbGAP											0													200.0	147.0	165.0					10																	61946501		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2057G>C	10.37:g.61946501C>G	ENSP00000280772:p.Arg686Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.R686T	ENST00000280772.2	37	c.2057	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368445	0.61513	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304;ENST00000536348	T;T;T	0.64438	-0.1;-0.1;-0.1	6.17	6.17	0.99709	Ankyrin repeat-containing domain (4);	0.000000	0.45606	D	0.000358	T	0.74084	0.3670	L	0.53780	1.695	0.80722	D	1	B;B;P;P;D	0.57571	0.071;0.404;0.932;0.887;0.98	B;B;P;P;P	0.56865	0.105;0.216;0.808;0.566;0.721	T	0.73965	-0.3816	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	669;347;230;680;686	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	T	686;680;669;648;347;347;230	ENSP00000280772:R686T;ENSP00000362933:R680T;ENSP00000425236:R669T	ENSP00000280772:R686T	R	-	2	0	ANK3	61616507	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	3.257000	0.51500	2.941000	0.99782	0.655000	0.94253	AGA	ANK3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151150		0.507	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	353	0.00	0	C	NM_020987		61946501	61946501	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	missense	237	38.82	151	SNP	1.000	G
ANK3	288	genome.wustl.edu	37	10	61946501	61946501	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr10:61946501C>G	ENST00000280772.2	-	17	2248	c.2057G>C	c.(2056-2058)aGa>aCa	p.R686T	ANK3_ENST00000503366.1_Missense_Mutation_p.R669T|ANK3_ENST00000373827.2_Missense_Mutation_p.R680T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	686					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTCGCATTTCTACCGAGGAG	0.507																																						dbGAP											0													200.0	147.0	165.0					10																	61946501		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2057G>C	10.37:g.61946501C>G	ENSP00000280772:p.Arg686Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.R686T	ENST00000280772.2	37	c.2057	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368445	0.61513	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304;ENST00000536348	T;T;T	0.64438	-0.1;-0.1;-0.1	6.17	6.17	0.99709	Ankyrin repeat-containing domain (4);	0.000000	0.45606	D	0.000358	T	0.74084	0.3670	L	0.53780	1.695	0.80722	D	1	B;B;P;P;D	0.57571	0.071;0.404;0.932;0.887;0.98	B;B;P;P;P	0.56865	0.105;0.216;0.808;0.566;0.721	T	0.73965	-0.3816	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	669;347;230;680;686	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	T	686;680;669;648;347;347;230	ENSP00000280772:R686T;ENSP00000362933:R680T;ENSP00000425236:R669T	ENSP00000280772:R686T	R	-	2	0	ANK3	61616507	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	3.257000	0.51500	2.941000	0.99782	0.655000	0.94253	AGA	ANK3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151150		0.507	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	405	0.00	0	C	NM_020987		61946501	61946501	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	missense	237	38.82	151	SNP	1.000	G
ARRB2	409	genome.wustl.edu	37	17	4621248	4621248	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr17:4621248C>T	ENST00000269260.2	+	8	784	c.551C>T	c.(550-552)tCa>tTa	p.S184L	ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.S205L|ARRB2_ENST00000381488.6_Missense_Mutation_p.S169L|ARRB2_ENST00000575877.1_Missense_Mutation_p.S184L|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.S169L|ARRB2_ENST00000571206.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	184					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCCCAGCCTTCAGCCGAAACC	0.632																																						dbGAP											0													44.0	43.0	43.0					17																	4621248		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.551C>T	17.37:g.4621248C>T	ENSP00000269260:p.Ser184Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.S184L	ENST00000269260.2	37	c.551	CCDS11050.1	17	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251144	0.39797	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T;T	0.15718	2.4;2.4;2.47	4.77	4.77	0.60923	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.343357	0.31542	N	0.007461	T	0.17789	0.0427	M	0.68952	2.095	0.80722	D	1	B;B;B;B;B	0.18461	0.028;0.006;0.003;0.002;0.004	B;B;B;B;B	0.16289	0.015;0.007;0.002;0.001;0.002	T	0.03587	-1.1022	10	0.27082	T	0.32	-4.0945	8.8276	0.35065	0.0:0.9007:0.0:0.0993	.	205;169;184;169;184	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	L	184;184;169;185	ENSP00000269260:S184L;ENSP00000341895:S169L;ENSP00000403701:S185L	ENSP00000269260:S184L	S	+	2	0	ARRB2	4567997	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.036000	0.49767	2.479000	0.83701	0.655000	0.94253	TCA	ARRB2	-	superfamily_Ig_E-set	ENSG00000141480		0.632	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRB2	HGNC	protein_coding	OTTHUMT00000439552.1	120	0.00	0	C	NM_004313		4621248	4621248	+1	no_errors	ENST00000269260	ensembl	human	known	69_37n	missense	43	55.21	53	SNP	0.991	T
ARRB2	409	genome.wustl.edu	37	17	4621248	4621248	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr17:4621248C>T	ENST00000269260.2	+	8	784	c.551C>T	c.(550-552)tCa>tTa	p.S184L	ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.S205L|ARRB2_ENST00000381488.6_Missense_Mutation_p.S169L|ARRB2_ENST00000575877.1_Missense_Mutation_p.S184L|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.S169L|ARRB2_ENST00000571206.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	184					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCCCAGCCTTCAGCCGAAACC	0.632																																						dbGAP											0													44.0	43.0	43.0					17																	4621248		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.551C>T	17.37:g.4621248C>T	ENSP00000269260:p.Ser184Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.S184L	ENST00000269260.2	37	c.551	CCDS11050.1	17	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251144	0.39797	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T;T	0.15718	2.4;2.4;2.47	4.77	4.77	0.60923	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.343357	0.31542	N	0.007461	T	0.17789	0.0427	M	0.68952	2.095	0.80722	D	1	B;B;B;B;B	0.18461	0.028;0.006;0.003;0.002;0.004	B;B;B;B;B	0.16289	0.015;0.007;0.002;0.001;0.002	T	0.03587	-1.1022	10	0.27082	T	0.32	-4.0945	8.8276	0.35065	0.0:0.9007:0.0:0.0993	.	205;169;184;169;184	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	L	184;184;169;185	ENSP00000269260:S184L;ENSP00000341895:S169L;ENSP00000403701:S185L	ENSP00000269260:S184L	S	+	2	0	ARRB2	4567997	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.036000	0.49767	2.479000	0.83701	0.655000	0.94253	TCA	ARRB2	-	superfamily_Ig_E-set	ENSG00000141480		0.632	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRB2	HGNC	protein_coding	OTTHUMT00000439552.1	119	0.00	0	C	NM_004313		4621248	4621248	+1	no_errors	ENST00000269260	ensembl	human	known	69_37n	missense	43	55.21	53	SNP	0.991	T
CROCCP2	84809	genome.wustl.edu	37	1	16950820	16950820	+	lincRNA	SNP	G	G	A	rs41310373		TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr1:16950820G>A	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCCGCAGGCCGCCAGCTGCAC	0.706																																						dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16950820G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.706	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	41	0.00	0	G	NR_026752.1		16950820	16950820	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	35	30.00	15	SNP	0.999	A
ATP1A1	476	genome.wustl.edu	37	1	116933404	116933404	+	Splice_Site	SNP	G	G	A			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr1:116933404G>A	ENST00000295598.5	+	10	1475	c.1223G>A	c.(1222-1224)gGt>gAt	p.G408D	ATP1A1_ENST00000369496.4_Splice_Site_p.G377D|ATP1A1_ENST00000537345.1_Splice_Site_p.G408D	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	408					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	CCTCCATCAGGTGTCTCTTTT	0.433																																						dbGAP											0													170.0	164.0	166.0					1																	116933404		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1223-1G>A	1.37:g.116933404G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.G408D	ENST00000295598.5	37	c.1223	CCDS887.1	1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919092	0.73098	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	T;T;T	0.79141	-1.24;-1.24;-1.24	4.56	4.56	0.56223	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.74390	0.3710	L	0.60455	1.87	0.80722	D	1	B;P	0.35208	0.217;0.49	B;P	0.46049	0.265;0.502	T	0.73483	-0.3968	9	.	.	.	.	16.0345	0.80612	0.0:0.0:1.0:0.0	.	408;408	F5H3A1;P05023	.;AT1A1_HUMAN	D	408;408;407;377	ENSP00000295598:G408D;ENSP00000445306:G408D;ENSP00000358508:G377D	.	G	+	2	0	ATP1A1	116734927	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.063000	0.76714	2.548000	0.85928	0.637000	0.83480	GGT	ATP1A1	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000163399		0.433	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5	490	0.20	1	G	NM_001160233	Missense_Mutation	116933404	116933404	+1	no_errors	ENST00000295598	ensembl	human	known	69_37n	missense	134	60.36	204	SNP	1.000	A
ATP1A1	476	genome.wustl.edu	37	1	116933404	116933404	+	Splice_Site	SNP	G	G	A			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr1:116933404G>A	ENST00000295598.5	+	10	1475	c.1223G>A	c.(1222-1224)gGt>gAt	p.G408D	ATP1A1_ENST00000369496.4_Splice_Site_p.G377D|ATP1A1_ENST00000537345.1_Splice_Site_p.G408D	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	408					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	CCTCCATCAGGTGTCTCTTTT	0.433																																						dbGAP											0													170.0	164.0	166.0					1																	116933404		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1223-1G>A	1.37:g.116933404G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.G408D	ENST00000295598.5	37	c.1223	CCDS887.1	1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919092	0.73098	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	T;T;T	0.79141	-1.24;-1.24;-1.24	4.56	4.56	0.56223	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.74390	0.3710	L	0.60455	1.87	0.80722	D	1	B;P	0.35208	0.217;0.49	B;P	0.46049	0.265;0.502	T	0.73483	-0.3968	9	.	.	.	.	16.0345	0.80612	0.0:0.0:1.0:0.0	.	408;408	F5H3A1;P05023	.;AT1A1_HUMAN	D	408;408;407;377	ENSP00000295598:G408D;ENSP00000445306:G408D;ENSP00000358508:G377D	.	G	+	2	0	ATP1A1	116734927	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.063000	0.76714	2.548000	0.85928	0.637000	0.83480	GGT	ATP1A1	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000163399		0.433	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5	483	0.21	1	G	NM_001160233	Missense_Mutation	116933404	116933404	+1	no_errors	ENST00000295598	ensembl	human	known	69_37n	missense	134	60.36	204	SNP	1.000	A
MICU3	286097	genome.wustl.edu	37	8	16961987	16961987	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr8:16961987G>C	ENST00000318063.5	+	10	1114	c.1072G>C	c.(1072-1074)Gaa>Caa	p.E358Q	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	358						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										GCTCAACTTTGAAGATTTTTA	0.294																																						dbGAP											0													49.0	50.0	50.0					8																	16961987		2203	4289	6492	-	-	-	SO:0001583	missense	0			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.1072G>C	8.37:g.16961987G>C	ENSP00000321455:p.Glu358Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYZ3	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E358Q	ENST00000318063.5	37	c.1072	CCDS5999.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.91|15.91	2.971367|2.971367	0.53614|0.53614	.|.	.|.	ENSG00000155970|ENSG00000155970	ENST00000318063|ENST00000519044	T|.	0.80480|.	-1.38|.	4.82|4.82	4.82|4.82	0.62117|0.62117	EF-hand-like domain (1);|.	0.112447|.	0.64402|.	D|.	0.000013|.	T|T	0.68869|0.68869	0.3048|0.3048	L|L	0.48174|0.48174	1.505|1.505	0.58432|0.58432	D|D	0.999998|0.999998	B|.	0.23442|.	0.085|.	B|.	0.21708|.	0.036|.	T|T	0.65651|0.65651	-0.6116|-0.6116	10|5	0.42905|.	T|.	0.14|.	-9.2026|-9.2026	18.7992|18.7992	0.92008|0.92008	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	358|.	Q86XE3|.	EFHA2_HUMAN|.	Q|F	358|202	ENSP00000321455:E358Q|.	ENSP00000321455:E358Q|.	E|L	+|+	1|3	0|2	EFHA2|EFHA2	17006358|17006358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.069000|6.069000	0.71209|0.71209	2.603000|2.603000	0.88011|0.88011	0.650000|0.650000	0.86243|0.86243	GAA|TTG	EFHA2	-	NULL	ENSG00000155970		0.294	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHA2	HGNC	protein_coding	OTTHUMT00000214031.1	85	0.00	0	G	NM_181723		16961987	16961987	+1	no_errors	ENST00000318063	ensembl	human	known	69_37n	missense	18	56.82	25	SNP	1.000	C
MICU3	286097	genome.wustl.edu	37	8	16961987	16961987	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr8:16961987G>C	ENST00000318063.5	+	10	1114	c.1072G>C	c.(1072-1074)Gaa>Caa	p.E358Q	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	358						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										GCTCAACTTTGAAGATTTTTA	0.294																																						dbGAP											0													49.0	50.0	50.0					8																	16961987		2203	4289	6492	-	-	-	SO:0001583	missense	0			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.1072G>C	8.37:g.16961987G>C	ENSP00000321455:p.Glu358Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYZ3	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E358Q	ENST00000318063.5	37	c.1072	CCDS5999.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.91|15.91	2.971367|2.971367	0.53614|0.53614	.|.	.|.	ENSG00000155970|ENSG00000155970	ENST00000318063|ENST00000519044	T|.	0.80480|.	-1.38|.	4.82|4.82	4.82|4.82	0.62117|0.62117	EF-hand-like domain (1);|.	0.112447|.	0.64402|.	D|.	0.000013|.	T|T	0.68869|0.68869	0.3048|0.3048	L|L	0.48174|0.48174	1.505|1.505	0.58432|0.58432	D|D	0.999998|0.999998	B|.	0.23442|.	0.085|.	B|.	0.21708|.	0.036|.	T|T	0.65651|0.65651	-0.6116|-0.6116	10|5	0.42905|.	T|.	0.14|.	-9.2026|-9.2026	18.7992|18.7992	0.92008|0.92008	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	358|.	Q86XE3|.	EFHA2_HUMAN|.	Q|F	358|202	ENSP00000321455:E358Q|.	ENSP00000321455:E358Q|.	E|L	+|+	1|3	0|2	EFHA2|EFHA2	17006358|17006358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.069000|6.069000	0.71209|0.71209	2.603000|2.603000	0.88011|0.88011	0.650000|0.650000	0.86243|0.86243	GAA|TTG	EFHA2	-	NULL	ENSG00000155970		0.294	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHA2	HGNC	protein_coding	OTTHUMT00000214031.1	117	0.00	0	G	NM_181723		16961987	16961987	+1	no_errors	ENST00000318063	ensembl	human	known	69_37n	missense	18	56.82	25	SNP	1.000	C
EPN1	29924	genome.wustl.edu	37	19	56206663	56206663	+	Silent	SNP	C	C	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr19:56206663C>T	ENST00000270460.6	+	11	1983	c.1672C>T	c.(1672-1674)Ctg>Ttg	p.L558L	EPN1_ENST00000085079.7_Silent_p.L532L|AC010525.4_ENST00000585559.1_RNA|AC010525.7_ENST00000589698.1_lincRNA|AC010525.6_ENST00000587937.1_lincRNA|EPN1_ENST00000411543.2_Silent_p.L644L	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	558	3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GGGCCCTGGCCTGCCCCCCAT	0.697																																						dbGAP											0													8.0	9.0	9.0					19																	56206663		1874	4049	5923	-	-	-	SO:0001819	synonymous_variant	0			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1672C>T	19.37:g.56206663C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86ST3|Q9HA18	Silent	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.L644	ENST00000270460.6	37	c.1930	CCDS46199.1	19																																																																																			EPN1	-	NULL	ENSG00000063245		0.697	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1	24	0.00	0	C	NM_013333		56206663	56206663	+1	no_errors	ENST00000411543	ensembl	human	known	69_37n	silent	12	42.86	9	SNP	1.000	T
EPN1	29924	genome.wustl.edu	37	19	56206663	56206663	+	Silent	SNP	C	C	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr19:56206663C>T	ENST00000270460.6	+	11	1983	c.1672C>T	c.(1672-1674)Ctg>Ttg	p.L558L	EPN1_ENST00000085079.7_Silent_p.L532L|AC010525.4_ENST00000585559.1_RNA|AC010525.7_ENST00000589698.1_lincRNA|AC010525.6_ENST00000587937.1_lincRNA|EPN1_ENST00000411543.2_Silent_p.L644L	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	558	3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GGGCCCTGGCCTGCCCCCCAT	0.697																																						dbGAP											0													8.0	9.0	9.0					19																	56206663		1874	4049	5923	-	-	-	SO:0001819	synonymous_variant	0			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1672C>T	19.37:g.56206663C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86ST3|Q9HA18	Silent	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.L644	ENST00000270460.6	37	c.1930	CCDS46199.1	19																																																																																			EPN1	-	NULL	ENSG00000063245		0.697	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1	22	0.00	0	C	NM_013333		56206663	56206663	+1	no_errors	ENST00000411543	ensembl	human	known	69_37n	silent	12	42.86	9	SNP	1.000	T
FGFBP2	83888	genome.wustl.edu	37	4	15964689	15964689	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr4:15964689G>T	ENST00000259989.6	-	1	170	c.64C>A	c.(64-66)Ccg>Acg	p.P22T	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	22						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTTTGCCTCGGGGCCTGACCC	0.577																																						dbGAP											0													66.0	61.0	63.0					4																	15964689		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"""killer-specific secretory protein of 37 kDa"""	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.64C>A	4.37:g.15964689G>T	ENSP00000259989:p.Pro22Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_FGF1-bd	p.P22T	ENST00000259989.6	37	c.64	CCDS3419.1	4	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771523	0.49680	.	.	ENSG00000137441	ENST00000259989	T	0.13778	2.56	2.98	2.98	0.34508	.	0.466331	0.17670	U	0.166015	T	0.14184	0.0343	L	0.27053	0.805	0.09310	N	0.999995	D	0.53462	0.96	P	0.49252	0.604	T	0.08066	-1.0740	10	0.45353	T	0.12	-1.8309	12.0427	0.53462	0.0:0.0:1.0:0.0	.	22	Q9BYJ0	FGFP2_HUMAN	T	22	ENSP00000259989:P22T	ENSP00000259989:P22T	P	-	1	0	FGFBP2	15573787	0.053000	0.20554	0.002000	0.10522	0.007000	0.05969	2.029000	0.41098	1.175000	0.42826	0.650000	0.86243	CCG	FGFBP2	-	pfam_FGF1-bd	ENSG00000137441		0.577	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFBP2	HGNC	protein_coding	OTTHUMT00000250324.1	59	0.00	0	G	NM_031950		15964689	15964689	-1	no_errors	ENST00000259989	ensembl	human	known	69_37n	missense	35	38.60	22	SNP	0.162	T
FLG	2312	genome.wustl.edu	37	1	152278409	152278409	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr1:152278409A>T	ENST00000368799.1	-	3	8988	c.8953T>A	c.(8953-8955)Tca>Aca	p.S2985T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2985	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCTGCTGACTGCTGGTGG	0.552									Ichthyosis																													dbGAP											0													5.0	7.0	6.0					1																	152278409		919	2572	3491	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8953T>A	1.37:g.152278409A>T	ENSP00000357789:p.Ser2985Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S2985T	ENST00000368799.1	37	c.8953	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.332364	0.24167	.	.	ENSG00000143631	ENST00000368799	T	0.00816	5.66	3.47	1.05	0.20165	.	.	.	.	.	T	0.01092	0.0036	M	0.68952	2.095	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.51949	-0.8640	9	0.23302	T	0.38	.	4.9706	0.14113	0.7312:0.0:0.2688:0.0	.	2985	P20930	FILA_HUMAN	T	2985	ENSP00000357789:S2985T	ENSP00000357789:S2985T	S	-	1	0	FLG	150545033	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-1.664000	0.01966	0.482000	0.27582	0.369000	0.22263	TCA	FLG	-	pfam_Filaggrin	ENSG00000143631		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	20	0.00	0	A	NM_002016		152278409	152278409	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	21	41.67	15	SNP	0.002	T
FLG	2312	genome.wustl.edu	37	1	152278409	152278409	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr1:152278409A>T	ENST00000368799.1	-	3	8988	c.8953T>A	c.(8953-8955)Tca>Aca	p.S2985T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2985	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCTGCTGACTGCTGGTGG	0.552									Ichthyosis																													dbGAP											0													5.0	7.0	6.0					1																	152278409		919	2572	3491	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8953T>A	1.37:g.152278409A>T	ENSP00000357789:p.Ser2985Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S2985T	ENST00000368799.1	37	c.8953	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.332364	0.24167	.	.	ENSG00000143631	ENST00000368799	T	0.00816	5.66	3.47	1.05	0.20165	.	.	.	.	.	T	0.01092	0.0036	M	0.68952	2.095	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.51949	-0.8640	9	0.23302	T	0.38	.	4.9706	0.14113	0.7312:0.0:0.2688:0.0	.	2985	P20930	FILA_HUMAN	T	2985	ENSP00000357789:S2985T	ENSP00000357789:S2985T	S	-	1	0	FLG	150545033	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-1.664000	0.01966	0.482000	0.27582	0.369000	0.22263	TCA	FLG	-	pfam_Filaggrin	ENSG00000143631		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	22	0.00	0	A	NM_002016		152278409	152278409	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	21	41.67	15	SNP	0.002	T
GPRIN2	9721	genome.wustl.edu	37	10	46998995	46998995	+	Missense_Mutation	SNP	C	C	G	rs4926045	byFrequency	TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr10:46998995C>G	ENST00000374317.1	+	3	388	c.115C>G	c.(115-117)Ctc>Gtc	p.L39V	GPRIN2_ENST00000374314.4_Missense_Mutation_p.L39V	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	39			L -> V (in dbSNP:rs4926045).							breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GAGGCCAGAGCTCCGCAAGAC	0.711																																						dbGAP											0													33.0	43.0	40.0					10																	46998995		2202	4297	6499	-	-	-	SO:0001583	missense	0			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.115C>G	10.37:g.46998995C>G	ENSP00000363436:p.Leu39Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SVF0	Missense_Mutation	SNP	NULL	p.L39V	ENST00000374317.1	37	c.115	CCDS31192.1	10	1012	0.4633699633699634	185	0.37601626016260165	176	0.4861878453038674	282	0.493006993006993	369	0.4868073878627968	C	13.49	2.252220	0.39797	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.07444	3.19;3.19	5.44	4.53	0.55603	.	0.364802	0.20240	N	0.096305	T	0.00012	0.0000	M	0.69823	2.125	0.29865	N	0.827312	P	0.46277	0.875	P	0.47376	0.545	T	0.38757	-0.9646	10	0.66056	D	0.02	-16.6038	10.5533	0.45101	0.0:0.9103:0.0:0.0897	rs4926045	39	O60269	GRIN2_HUMAN	V	39	ENSP00000363436:L39V;ENSP00000363433:L39V	ENSP00000363433:L39V	L	+	1	0	GPRIN2	46419001	1.000000	0.71417	0.734000	0.30879	0.281000	0.26958	1.663000	0.37429	1.447000	0.47661	0.655000	0.94253	CTC	GPRIN2	-	NULL	ENSG00000204175		0.711	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1	12	0.00	0	C	NM_014696		46998995	46998995	+1	no_errors	ENST00000374314	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	0.989	G
HAUS6	54801	genome.wustl.edu	37	9	19096691	19096691	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr9:19096691G>C	ENST00000380502.3	-	2	672	c.205C>G	c.(205-207)Ctc>Gtc	p.L69V		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	69					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCTTTGGTGAGAGACTGGTCC	0.313																																						dbGAP											0													43.0	48.0	46.0					9																	19096691		2203	4298	6501	-	-	-	SO:0001583	missense	0			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.205C>G	9.37:g.19096691G>C	ENSP00000369871:p.Leu69Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	NULL	p.L69V	ENST00000380502.3	37	c.205	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958126	0.53400	.	.	ENSG00000147874	ENST00000380502	T	0.23950	1.88	5.16	4.27	0.50696	.	0.172227	0.51477	D	0.000086	T	0.40645	0.1125	M	0.70595	2.14	0.80722	D	1	D	0.62365	0.991	P	0.56751	0.805	T	0.24584	-1.0156	10	0.20519	T	0.43	-3.0508	12.3913	0.55360	0.0825:0.0:0.9175:0.0	.	69	Q7Z4H7	HAUS6_HUMAN	V	69	ENSP00000369871:L69V	ENSP00000369871:L69V	L	-	1	0	HAUS6	19086691	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.961000	0.49168	1.302000	0.44855	0.585000	0.79938	CTC	HAUS6	-	NULL	ENSG00000147874		0.313	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	210	0.00	0	G	NM_017645		19096691	19096691	-1	no_errors	ENST00000380502	ensembl	human	known	69_37n	missense	122	30.68	54	SNP	0.991	C
HAUS6	54801	genome.wustl.edu	37	9	19096691	19096691	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr9:19096691G>C	ENST00000380502.3	-	2	672	c.205C>G	c.(205-207)Ctc>Gtc	p.L69V		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	69					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCTTTGGTGAGAGACTGGTCC	0.313																																						dbGAP											0													43.0	48.0	46.0					9																	19096691		2203	4298	6501	-	-	-	SO:0001583	missense	0			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.205C>G	9.37:g.19096691G>C	ENSP00000369871:p.Leu69Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	NULL	p.L69V	ENST00000380502.3	37	c.205	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958126	0.53400	.	.	ENSG00000147874	ENST00000380502	T	0.23950	1.88	5.16	4.27	0.50696	.	0.172227	0.51477	D	0.000086	T	0.40645	0.1125	M	0.70595	2.14	0.80722	D	1	D	0.62365	0.991	P	0.56751	0.805	T	0.24584	-1.0156	10	0.20519	T	0.43	-3.0508	12.3913	0.55360	0.0825:0.0:0.9175:0.0	.	69	Q7Z4H7	HAUS6_HUMAN	V	69	ENSP00000369871:L69V	ENSP00000369871:L69V	L	-	1	0	HAUS6	19086691	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.961000	0.49168	1.302000	0.44855	0.585000	0.79938	CTC	HAUS6	-	NULL	ENSG00000147874		0.313	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	270	0.00	0	G	NM_017645		19096691	19096691	-1	no_errors	ENST00000380502	ensembl	human	known	69_37n	missense	122	30.68	54	SNP	0.991	C
HLA-DRB6	3128	genome.wustl.edu	37	6	32522679	32522679	+	RNA	SNP	G	G	C	rs112103446	byFrequency	TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr6:32522679G>C	ENST00000411500.1	-	0	527					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		ACCACTCACAGAGCCGACCAG	0.517													G|||	1613	0.322085	0.4327	0.2709	5008	,	,		9706	0.2976		0.2873	False		,,,				2504	0.2699					dbGAP											0																																										-	-	-			0			L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522679G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000411500.1	37	NULL		6																																																																																			HLA-DRB6	-	-	ENSG00000229391		0.517	HLA-DRB6-002	KNOWN	basic	processed_transcript	HLA-DRB6	HGNC	pseudogene	OTTHUMT00000272900.1	25	0.00	0	G	NR_001298		32522679	32522679	-1	no_errors	ENST00000411500	ensembl	human	known	69_37n	rna	18	21.74	5	SNP	1.000	C
KANK2	25959	genome.wustl.edu	37	19	11277272	11277272	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr19:11277272C>T	ENST00000586659.1	-	13	2832	c.2518G>A	c.(2518-2520)Gat>Aat	p.D840N	KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000589359.1_Missense_Mutation_p.D848N|KANK2_ENST00000432929.2_Missense_Mutation_p.D848N|KANK2_ENST00000355150.5_Missense_Mutation_p.D840N			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	840					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTCTCGTCATCTGACATTGGG	0.572																																						dbGAP											0													126.0	112.0	117.0					19																	11277272		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.2518G>A	19.37:g.11277272C>T	ENSP00000465650:p.Asp840Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D848N	ENST00000586659.1	37	c.2542	CCDS12255.1	19	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724865	0.48833	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.38401	1.14;1.16	3.11	3.11	0.35812	.	1.119960	0.06773	N	0.783934	T	0.44787	0.1310	N	0.22421	0.69	0.39012	D	0.959564	D;D	0.67145	0.982;0.996	P;D	0.73708	0.758;0.981	T	0.35943	-0.9768	10	0.33141	T	0.24	-19.1967	9.977	0.41791	0.0:1.0:0.0:0.0	.	840;848	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	N	848;840	ENSP00000395650:D848N;ENSP00000347276:D840N	ENSP00000347276:D840N	D	-	1	0	KANK2	11138272	0.769000	0.28531	0.982000	0.44146	0.489000	0.33432	2.764000	0.47613	2.060000	0.61445	0.467000	0.42956	GAT	KANK2	-	NULL	ENSG00000197256		0.572	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KANK2	HGNC	protein_coding	OTTHUMT00000453066.2	250	0.00	0	C	NM_015493		11277272	11277272	-1	no_errors	ENST00000432929	ensembl	human	known	69_37n	missense	183	27.95	71	SNP	0.985	T
KANK2	25959	genome.wustl.edu	37	19	11277272	11277272	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr19:11277272C>T	ENST00000586659.1	-	13	2832	c.2518G>A	c.(2518-2520)Gat>Aat	p.D840N	KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000589359.1_Missense_Mutation_p.D848N|KANK2_ENST00000432929.2_Missense_Mutation_p.D848N|KANK2_ENST00000355150.5_Missense_Mutation_p.D840N			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	840					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTCTCGTCATCTGACATTGGG	0.572																																						dbGAP											0													126.0	112.0	117.0					19																	11277272		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.2518G>A	19.37:g.11277272C>T	ENSP00000465650:p.Asp840Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D848N	ENST00000586659.1	37	c.2542	CCDS12255.1	19	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724865	0.48833	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.38401	1.14;1.16	3.11	3.11	0.35812	.	1.119960	0.06773	N	0.783934	T	0.44787	0.1310	N	0.22421	0.69	0.39012	D	0.959564	D;D	0.67145	0.982;0.996	P;D	0.73708	0.758;0.981	T	0.35943	-0.9768	10	0.33141	T	0.24	-19.1967	9.977	0.41791	0.0:1.0:0.0:0.0	.	840;848	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	N	848;840	ENSP00000395650:D848N;ENSP00000347276:D840N	ENSP00000347276:D840N	D	-	1	0	KANK2	11138272	0.769000	0.28531	0.982000	0.44146	0.489000	0.33432	2.764000	0.47613	2.060000	0.61445	0.467000	0.42956	GAT	KANK2	-	NULL	ENSG00000197256		0.572	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KANK2	HGNC	protein_coding	OTTHUMT00000453066.2	313	0.00	0	C	NM_015493		11277272	11277272	-1	no_errors	ENST00000432929	ensembl	human	known	69_37n	missense	183	27.95	71	SNP	0.985	T
KIAA1210	57481	genome.wustl.edu	37	X	118284280	118284280	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chrX:118284280G>A	ENST00000402510.2	-	1	262	c.263C>T	c.(262-264)cCg>cTg	p.P88L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	88										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGGGAATCGCGGTGTGCAGGG	0.537													G|||	2	0.000529801	0.0015	0.0	3775	,	,		14141	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													39.0	42.0	41.0					X																	118284280		1960	4150	6110	-	-	-	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.263C>T	X.37:g.118284280G>A	ENSP00000384670:p.Pro88Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.P88L	ENST00000402510.2	37	c.263	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	G	8.830	0.939670	0.18281	.	.	ENSG00000250423	ENST00000402510	T	0.13420	2.59	3.75	-7.49	0.01355	.	.	.	.	.	T	0.04998	0.0134	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40608	-0.9554	9	0.87932	D	0	.	3.0953	0.06307	0.1782:0.4674:0.1421:0.2123	.	88	Q9ULL0	K1210_HUMAN	L	88	ENSP00000384670:P88L	ENSP00000384670:P88L	P	-	2	0	RP13-347D8.6	118168308	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.494000	0.06451	-2.153000	0.00793	-0.927000	0.02713	CCG	KIAA1210	-	NULL	ENSG00000250423		0.537	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	101	0.00	0	G	NM_020721		118284280	118284280	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	missense	99	39.26	64	SNP	0.000	A
KIAA1210	57481	genome.wustl.edu	37	X	118284280	118284280	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chrX:118284280G>A	ENST00000402510.2	-	1	262	c.263C>T	c.(262-264)cCg>cTg	p.P88L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	88										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGGGAATCGCGGTGTGCAGGG	0.537													G|||	2	0.000529801	0.0015	0.0	3775	,	,		14141	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													39.0	42.0	41.0					X																	118284280		1960	4150	6110	-	-	-	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.263C>T	X.37:g.118284280G>A	ENSP00000384670:p.Pro88Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.P88L	ENST00000402510.2	37	c.263	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	G	8.830	0.939670	0.18281	.	.	ENSG00000250423	ENST00000402510	T	0.13420	2.59	3.75	-7.49	0.01355	.	.	.	.	.	T	0.04998	0.0134	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40608	-0.9554	9	0.87932	D	0	.	3.0953	0.06307	0.1782:0.4674:0.1421:0.2123	.	88	Q9ULL0	K1210_HUMAN	L	88	ENSP00000384670:P88L	ENSP00000384670:P88L	P	-	2	0	RP13-347D8.6	118168308	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.494000	0.06451	-2.153000	0.00793	-0.927000	0.02713	CCG	KIAA1210	-	NULL	ENSG00000250423		0.537	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	112	0.00	0	G	NM_020721		118284280	118284280	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	missense	99	39.26	64	SNP	0.000	A
LAMB2	3913	genome.wustl.edu	37	3	49159432	49159432	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr3:49159432C>T	ENST00000418109.1	-	30	5032	c.4868G>A	c.(4867-4869)gGt>gAt	p.G1623D	USP19_ENST00000398898.2_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000464891.1_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.G1623D|USP19_ENST00000453664.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1623	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGGATGGCACCCTGGGCAAT	0.612																																						dbGAP											0													96.0	90.0	92.0					3																	49159432		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4868G>A	3.37:g.49159432C>T	ENSP00000388325:p.Gly1623Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16321	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.G1623D	ENST00000418109.1	37	c.4868	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414532	0.42817	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.31510	1.49;1.49	5.55	5.55	0.83447	.	0.228452	0.44902	D	0.000410	T	0.36413	0.0966	L	0.54323	1.7	0.33786	D	0.624864	D	0.59767	0.986	P	0.53954	0.738	T	0.32455	-0.9906	10	0.09590	T	0.72	.	10.6851	0.45837	0.0:0.8695:0.0:0.1305	.	1623	P55268	LAMB2_HUMAN	D	1623;1623;347	ENSP00000388325:G1623D;ENSP00000307156:G1623D	ENSP00000307156:G1623D	G	-	2	0	LAMB2	49134436	0.231000	0.23751	0.998000	0.56505	0.996000	0.88848	0.878000	0.28126	2.620000	0.88729	0.655000	0.94253	GGT	LAMB2	-	NULL	ENSG00000172037		0.612	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	102	0.00	0	C	NM_002292		49159432	49159432	-1	no_errors	ENST00000305544	ensembl	human	known	69_37n	missense	65	40.37	44	SNP	0.816	T
LAMB2	3913	genome.wustl.edu	37	3	49159432	49159432	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr3:49159432C>T	ENST00000418109.1	-	30	5032	c.4868G>A	c.(4867-4869)gGt>gAt	p.G1623D	USP19_ENST00000398898.2_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000464891.1_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.G1623D|USP19_ENST00000453664.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1623	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGGATGGCACCCTGGGCAAT	0.612																																						dbGAP											0													96.0	90.0	92.0					3																	49159432		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4868G>A	3.37:g.49159432C>T	ENSP00000388325:p.Gly1623Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16321	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.G1623D	ENST00000418109.1	37	c.4868	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414532	0.42817	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.31510	1.49;1.49	5.55	5.55	0.83447	.	0.228452	0.44902	D	0.000410	T	0.36413	0.0966	L	0.54323	1.7	0.33786	D	0.624864	D	0.59767	0.986	P	0.53954	0.738	T	0.32455	-0.9906	10	0.09590	T	0.72	.	10.6851	0.45837	0.0:0.8695:0.0:0.1305	.	1623	P55268	LAMB2_HUMAN	D	1623;1623;347	ENSP00000388325:G1623D;ENSP00000307156:G1623D	ENSP00000307156:G1623D	G	-	2	0	LAMB2	49134436	0.231000	0.23751	0.998000	0.56505	0.996000	0.88848	0.878000	0.28126	2.620000	0.88729	0.655000	0.94253	GGT	LAMB2	-	NULL	ENSG00000172037		0.612	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	95	0.00	0	C	NM_002292		49159432	49159432	-1	no_errors	ENST00000305544	ensembl	human	known	69_37n	missense	65	40.37	44	SNP	0.816	T
LMTK3	114783	genome.wustl.edu	37	19	49014822	49014822	+	Silent	SNP	G	G	A			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr19:49014822G>A	ENST00000600059.1	-	1	239	c.12C>T	c.(10-12)ccC>ccT	p.P4P	CTC-273B12.10_ENST00000598924.1_lincRNA|LMTK3_ENST00000270238.3_Silent_p.P33P			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	4					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TGAGGGCGCCGGGGGCAGGCA	0.756																																						dbGAP											0													7.0	10.0	9.0					19																	49014822		1812	3977	5789	-	-	-	SO:0001819	synonymous_variant	0			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.12C>T	19.37:g.49014822G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0U1	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P33	ENST00000600059.1	37	c.99		19																																																																																			LMTK3	-	NULL	ENSG00000142235		0.756	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	28	0.00	0	G	NM_052895		49014822	49014822	-1	no_errors	ENST00000270238	ensembl	human	known	69_37n	silent	20	55.56	25	SNP	0.889	A
MGA	23269	genome.wustl.edu	37	15	42002989	42002989	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr15:42002989delG	ENST00000570161.1	+	7	2526	c.2526delG	c.(2524-2526)atgfs	p.M842fs	MGA_ENST00000545763.1_Frame_Shift_Del_p.M842fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.M842fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.M842fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.M842fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	149	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAACAAGCATGGGTTTTTCTT	0.398																																						dbGAP											0													118.0	112.0	114.0					15																	42002989		1897	4114	6011	-	-	-	SO:0001589	frameshift_variant	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2526delG	15.37:g.42002989delG	ENSP00000457035:p.Met842fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.G843fs	ENST00000570161.1	37	c.2526	CCDS55959.1	15																																																																																			MGA	-	NULL	ENSG00000174197		0.398	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	315	0.32	1	G	NM_001164273.1		42002989	42002989	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	frame_shift_del	220	30.63	98	DEL	1.000	-
MGA	23269	genome.wustl.edu	37	15	42002989	42002989	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr15:42002989delG	ENST00000570161.1	+	7	2526	c.2526delG	c.(2524-2526)atgfs	p.M842fs	MGA_ENST00000545763.1_Frame_Shift_Del_p.M842fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.M842fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.M842fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.M842fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	149	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAACAAGCATGGGTTTTTCTT	0.398																																						dbGAP											0													118.0	112.0	114.0					15																	42002989		1897	4114	6011	-	-	-	SO:0001589	frameshift_variant	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2526delG	15.37:g.42002989delG	ENSP00000457035:p.Met842fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.G843fs	ENST00000570161.1	37	c.2526	CCDS55959.1	15																																																																																			MGA	-	NULL	ENSG00000174197		0.398	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	320	0.31	1	G	NM_001164273.1		42002989	42002989	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	frame_shift_del	220	30.63	98	DEL	1.000	-
MTRR	4552	genome.wustl.edu	37	5	7889262	7889262	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr5:7889262C>G	ENST00000264668.2	+	9	1312	c.1282C>G	c.(1282-1284)Cta>Gta	p.L428V	MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000440940.2_Missense_Mutation_p.L401V	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	428	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AAAGCGCAGGCTACAGGAGCT	0.507																																						dbGAP											0													126.0	112.0	116.0					5																	7889262		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1282C>G	5.37:g.7889262C>G	ENSP00000264668:p.Leu428Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin,pfscan_Flavodoxin/NO_synth	p.L428V	ENST00000264668.2	37	c.1282	CCDS3874.1	5	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768336	0.49680	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	T;T	0.64260	-0.09;-0.09	4.93	1.71	0.24356	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.074268	0.53938	D	0.000045	T	0.81945	0.4930	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83452	0.0049	10	0.87932	D	0	-8.1214	10.0181	0.42027	0.0:0.7068:0.0:0.2932	.	428	Q9UBK8	MTRR_HUMAN	V	428;401	ENSP00000264668:L428V;ENSP00000402510:L401V	ENSP00000264668:L428V	L	+	1	2	MTRR	7942262	1.000000	0.71417	0.652000	0.29579	0.451000	0.32288	3.687000	0.54692	0.492000	0.27815	-0.768000	0.03414	CTA	MTRR	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000124275		0.507	MTRR-001	KNOWN	basic|CCDS	protein_coding	MTRR	HGNC	protein_coding	OTTHUMT00000206931.1	203	0.00	0	C			7889262	7889262	+1	no_errors	ENST00000264668	ensembl	human	known	69_37n	missense	250	42.03	182	SNP	1.000	G
MTRR	4552	genome.wustl.edu	37	5	7889262	7889262	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr5:7889262C>G	ENST00000264668.2	+	9	1312	c.1282C>G	c.(1282-1284)Cta>Gta	p.L428V	MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000440940.2_Missense_Mutation_p.L401V	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	428	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AAAGCGCAGGCTACAGGAGCT	0.507																																						dbGAP											0													126.0	112.0	116.0					5																	7889262		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1282C>G	5.37:g.7889262C>G	ENSP00000264668:p.Leu428Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin,pfscan_Flavodoxin/NO_synth	p.L428V	ENST00000264668.2	37	c.1282	CCDS3874.1	5	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768336	0.49680	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	T;T	0.64260	-0.09;-0.09	4.93	1.71	0.24356	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.074268	0.53938	D	0.000045	T	0.81945	0.4930	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83452	0.0049	10	0.87932	D	0	-8.1214	10.0181	0.42027	0.0:0.7068:0.0:0.2932	.	428	Q9UBK8	MTRR_HUMAN	V	428;401	ENSP00000264668:L428V;ENSP00000402510:L401V	ENSP00000264668:L428V	L	+	1	2	MTRR	7942262	1.000000	0.71417	0.652000	0.29579	0.451000	0.32288	3.687000	0.54692	0.492000	0.27815	-0.768000	0.03414	CTA	MTRR	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000124275		0.507	MTRR-001	KNOWN	basic|CCDS	protein_coding	MTRR	HGNC	protein_coding	OTTHUMT00000206931.1	209	0.00	0	C			7889262	7889262	+1	no_errors	ENST00000264668	ensembl	human	known	69_37n	missense	250	42.03	182	SNP	1.000	G
OR10K1	391109	genome.wustl.edu	37	1	158436273	158436273	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr1:158436273A>T	ENST00000289451.2	+	1	1002	c.922A>T	c.(922-924)Act>Tct	p.T308S		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					AATCGGCCAAACTTTCTATCC	0.343																																						dbGAP											0													76.0	76.0	76.0					1																	158436273		2203	4300	6503	-	-	-	SO:0001583	missense	0			AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.922A>T	1.37:g.158436273A>T	ENSP00000289451:p.Thr308Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFS2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T308S	ENST00000289451.2	37	c.922	CCDS30897.1	1	.	.	.	.	.	.	.	.	.	.	a	5.918	0.353516	0.11182	.	.	ENSG00000173285	ENST00000289451	T	0.36340	1.26	4.24	3.06	0.35304	.	0.864707	0.09580	N	0.783032	T	0.06234	0.0161	N	0.05050	-0.12	0.09310	N	1	B	0.21905	0.062	B	0.21708	0.036	T	0.37291	-0.9712	10	0.38643	T	0.18	.	4.9362	0.13941	0.7115:0.1901:0.0983:0.0	.	308	Q8NGX5	O10K1_HUMAN	S	308	ENSP00000289451:T308S	ENSP00000289451:T308S	T	+	1	0	OR10K1	156702897	0.780000	0.28664	0.008000	0.14137	0.018000	0.09664	2.266000	0.43320	0.613000	0.30089	0.455000	0.32223	ACT	OR10K1	-	NULL	ENSG00000173285		0.343	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K1	HGNC	protein_coding	OTTHUMT00000046367.1	205	0.00	0	A			158436273	158436273	+1	no_errors	ENST00000289451	ensembl	human	known	69_37n	missense	201	30.21	87	SNP	0.009	T
OR10K1	391109	genome.wustl.edu	37	1	158436273	158436273	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr1:158436273A>T	ENST00000289451.2	+	1	1002	c.922A>T	c.(922-924)Act>Tct	p.T308S		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					AATCGGCCAAACTTTCTATCC	0.343																																						dbGAP											0													76.0	76.0	76.0					1																	158436273		2203	4300	6503	-	-	-	SO:0001583	missense	0			AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.922A>T	1.37:g.158436273A>T	ENSP00000289451:p.Thr308Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFS2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T308S	ENST00000289451.2	37	c.922	CCDS30897.1	1	.	.	.	.	.	.	.	.	.	.	a	5.918	0.353516	0.11182	.	.	ENSG00000173285	ENST00000289451	T	0.36340	1.26	4.24	3.06	0.35304	.	0.864707	0.09580	N	0.783032	T	0.06234	0.0161	N	0.05050	-0.12	0.09310	N	1	B	0.21905	0.062	B	0.21708	0.036	T	0.37291	-0.9712	10	0.38643	T	0.18	.	4.9362	0.13941	0.7115:0.1901:0.0983:0.0	.	308	Q8NGX5	O10K1_HUMAN	S	308	ENSP00000289451:T308S	ENSP00000289451:T308S	T	+	1	0	OR10K1	156702897	0.780000	0.28664	0.008000	0.14137	0.018000	0.09664	2.266000	0.43320	0.613000	0.30089	0.455000	0.32223	ACT	OR10K1	-	NULL	ENSG00000173285		0.343	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K1	HGNC	protein_coding	OTTHUMT00000046367.1	227	0.00	0	A			158436273	158436273	+1	no_errors	ENST00000289451	ensembl	human	known	69_37n	missense	201	30.21	87	SNP	0.009	T
PDZD8	118987	genome.wustl.edu	37	10	119078457	119078457	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr10:119078457C>T	ENST00000334464.5	-	3	1263	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	342					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACATTTGCCTCTCTGTCATAG	0.323																																						dbGAP											0													108.0	105.0	106.0					10																	119078457		2203	4298	6501	-	-	-	SO:0001583	missense	0			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1024G>A	10.37:g.119078457C>T	ENSP00000334642:p.Glu342Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.E342K	ENST00000334464.5	37	c.1024	CCDS7600.1	10	.	.	.	.	.	.	.	.	.	.	C	25.3	4.629128	0.87560	.	.	ENSG00000165650	ENST00000334464	D	0.86230	-2.09	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.92038	0.7477	L	0.60455	1.87	0.53688	D	0.999975	D	0.76494	0.999	D	0.80764	0.994	D	0.91737	0.5401	10	0.51188	T	0.08	-17.1565	17.2675	0.87092	0.0:1.0:0.0:0.0	.	342	Q8NEN9	PDZD8_HUMAN	K	342	ENSP00000334642:E342K	ENSP00000334642:E342K	E	-	1	0	PDZD8	119068447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.799000	0.69101	2.685000	0.91497	0.650000	0.86243	GAG	PDZD8	-	NULL	ENSG00000165650		0.323	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD8	HGNC	protein_coding	OTTHUMT00000050565.1	377	0.26	1	C	NM_173791		119078457	119078457	-1	no_errors	ENST00000334464	ensembl	human	known	69_37n	missense	233	29.73	99	SNP	1.000	T
PDZD8	118987	genome.wustl.edu	37	10	119078457	119078457	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr10:119078457C>T	ENST00000334464.5	-	3	1263	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	342					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACATTTGCCTCTCTGTCATAG	0.323																																						dbGAP											0													108.0	105.0	106.0					10																	119078457		2203	4298	6501	-	-	-	SO:0001583	missense	0			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1024G>A	10.37:g.119078457C>T	ENSP00000334642:p.Glu342Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.E342K	ENST00000334464.5	37	c.1024	CCDS7600.1	10	.	.	.	.	.	.	.	.	.	.	C	25.3	4.629128	0.87560	.	.	ENSG00000165650	ENST00000334464	D	0.86230	-2.09	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.92038	0.7477	L	0.60455	1.87	0.53688	D	0.999975	D	0.76494	0.999	D	0.80764	0.994	D	0.91737	0.5401	10	0.51188	T	0.08	-17.1565	17.2675	0.87092	0.0:1.0:0.0:0.0	.	342	Q8NEN9	PDZD8_HUMAN	K	342	ENSP00000334642:E342K	ENSP00000334642:E342K	E	-	1	0	PDZD8	119068447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.799000	0.69101	2.685000	0.91497	0.650000	0.86243	GAG	PDZD8	-	NULL	ENSG00000165650		0.323	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD8	HGNC	protein_coding	OTTHUMT00000050565.1	471	0.00	0	C	NM_173791		119078457	119078457	-1	no_errors	ENST00000334464	ensembl	human	known	69_37n	missense	233	29.73	99	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	216	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	131	42.29	96	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	283	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	131	42.29	96	SNP	1.000	G
PLEKHG6	55200	genome.wustl.edu	37	12	6426507	6426507	+	Silent	SNP	C	C	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr12:6426507C>T	ENST00000396988.3	+	8	1025	c.795C>T	c.(793-795)ctC>ctT	p.L265L	PLEKHG6_ENST00000011684.7_Silent_p.L265L|PLEKHG6_ENST00000304581.8_5'Flank|PLEKHG6_ENST00000449001.2_Silent_p.L233L|PLEKHG6_ENST00000536531.1_Silent_p.L265L	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	265	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AGTACTGCCTCCGAGTGAAGC	0.592																																						dbGAP											0													115.0	98.0	104.0					12																	6426507		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.795C>T	12.37:g.6426507C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L265	ENST00000396988.3	37	c.795	CCDS8541.1	12																																																																																			PLEKHG6	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000008323		0.592	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHG6	HGNC	protein_coding	OTTHUMT00000399031.1	179	0.00	0	C	NM_018173		6426507	6426507	+1	no_errors	ENST00000011684	ensembl	human	known	69_37n	silent	134	33.00	66	SNP	0.868	T
PLEKHG6	55200	genome.wustl.edu	37	12	6426507	6426507	+	Silent	SNP	C	C	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr12:6426507C>T	ENST00000396988.3	+	8	1025	c.795C>T	c.(793-795)ctC>ctT	p.L265L	PLEKHG6_ENST00000011684.7_Silent_p.L265L|PLEKHG6_ENST00000304581.8_5'Flank|PLEKHG6_ENST00000449001.2_Silent_p.L233L|PLEKHG6_ENST00000536531.1_Silent_p.L265L	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	265	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AGTACTGCCTCCGAGTGAAGC	0.592																																						dbGAP											0													115.0	98.0	104.0					12																	6426507		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.795C>T	12.37:g.6426507C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L265	ENST00000396988.3	37	c.795	CCDS8541.1	12																																																																																			PLEKHG6	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000008323		0.592	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHG6	HGNC	protein_coding	OTTHUMT00000399031.1	204	0.00	0	C	NM_018173		6426507	6426507	+1	no_errors	ENST00000011684	ensembl	human	known	69_37n	silent	134	33.00	66	SNP	0.868	T
RGPD4	285190	genome.wustl.edu	37	2	108460141	108460141	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr2:108460141C>T	ENST00000408999.3	+	6	814	c.737C>T	c.(736-738)aCg>aTg	p.T246M	RGPD4_ENST00000354986.4_Missense_Mutation_p.T246M	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	246					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATGCTTCTTACGCTTTCCACT	0.393																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.737C>T	2.37:g.108460141C>T	ENSP00000386810:p.Thr246Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.T246M	ENST00000408999.3	37	c.737	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	12.26	1.886070	0.33348	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.31510	1.49;1.49	2.63	2.63	0.31362	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.49660	0.1570	L	0.60455	1.87	0.24338	N	0.994978	D	0.89917	1.0	D	0.78314	0.991	T	0.31752	-0.9932	9	0.72032	D	0.01	-7.5968	11.9066	0.52715	0.0:1.0:0.0:0.0	.	246	Q7Z3J3	RGPD4_HUMAN	M	246;246;4	ENSP00000347081:T246M;ENSP00000386810:T246M	ENSP00000347081:T246M	T	+	2	0	RGPD4	107826573	0.966000	0.33281	0.082000	0.20525	0.318000	0.28184	2.004000	0.40854	1.309000	0.44985	0.175000	0.17021	ACG	RGPD4	-	NULL	ENSG00000196862		0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	27	0.00	0	C	XM_496581		108460141	108460141	+1	no_errors	ENST00000354986	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	0.967	T
RGS12	6002	genome.wustl.edu	37	4	3432479	3432479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr4:3432479delC	ENST00000344733.5	+	17	4815	c.3911delC	c.(3910-3912)tccfs	p.S1304fs	RGS12_ENST00000382788.3_Frame_Shift_Del_p.S1304fs|RGS12_ENST00000338806.4_Frame_Shift_Del_p.S656fs|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000336727.3_Frame_Shift_Del_p.S1304fs	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1304					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACTCCCCAGTCCCCCGTCTCC	0.711																																						dbGAP											0													14.0	16.0	15.0					4																	3432479		2173	4237	6410	-	-	-	SO:0001589	frameshift_variant	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3911delC	4.37:g.3432479delC	ENSP00000339381:p.Ser1304fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Frame_Shift_Del	DEL	pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTyr_interaction_dom,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTyr_interaction_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.V1306fs	ENST00000344733.5	37	c.3911	CCDS3366.1	4																																																																																			RGS12	-	NULL	ENSG00000159788		0.711	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1	9	0.00	0	C	NM_002926		3432479	3432479	+1	no_errors	ENST00000344733	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.311	-
SEZ6	124925	genome.wustl.edu	37	17	27296863	27296863	+	Silent	SNP	G	G	A			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr17:27296863G>A	ENST00000317338.12	-	4	1394	c.966C>T	c.(964-966)gtC>gtT	p.V322V	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Silent_p.V322V|SEZ6_ENST00000360295.9_Silent_p.V322V|SEZ6_ENST00000335960.6_Silent_p.V322V			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	322					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GGCTGCGGATGACTTGGCCCC	0.657																																						dbGAP											0													23.0	30.0	28.0					17																	27296863		1890	4101	5991	-	-	-	SO:0001819	synonymous_variant	0			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.966C>T	17.37:g.27296863G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.S155L	ENST00000317338.12	37	c.464	CCDS45639.1	17																																																																																			SEZ6	-	superfamily_CUB	ENSG00000063015		0.657	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6	HGNC	protein_coding	OTTHUMT00000397475.3	82	0.00	0	G			27296863	27296863	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000540419	ensembl	human	known	69_37n	missense	115	21.62	32	SNP	1.000	A
SEZ6	124925	genome.wustl.edu	37	17	27296863	27296863	+	Silent	SNP	G	G	A			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr17:27296863G>A	ENST00000317338.12	-	4	1394	c.966C>T	c.(964-966)gtC>gtT	p.V322V	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Silent_p.V322V|SEZ6_ENST00000360295.9_Silent_p.V322V|SEZ6_ENST00000335960.6_Silent_p.V322V			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	322					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GGCTGCGGATGACTTGGCCCC	0.657																																						dbGAP											0													23.0	30.0	28.0					17																	27296863		1890	4101	5991	-	-	-	SO:0001819	synonymous_variant	0			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.966C>T	17.37:g.27296863G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.S155L	ENST00000317338.12	37	c.464	CCDS45639.1	17																																																																																			SEZ6	-	superfamily_CUB	ENSG00000063015		0.657	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6	HGNC	protein_coding	OTTHUMT00000397475.3	72	0.00	0	G			27296863	27296863	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000540419	ensembl	human	known	69_37n	missense	115	21.62	32	SNP	1.000	A
SNTB2	6645	genome.wustl.edu	37	16	69294160	69294160	+	Silent	SNP	A	A	G			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr16:69294160A>G	ENST00000336278.4	+	3	1040	c.1002A>G	c.(1000-1002)gaA>gaG	p.E334E	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	334	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		GGCTGGCAGAACAGGTAGGCT	0.517																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)	dbGAP											0													94.0	76.0	82.0					16																	69294160		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"""syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"""	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.1002A>G	16.37:g.69294160A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BY09	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.E334	ENST00000336278.4	37	c.1002	CCDS10873.1	16																																																																																			SNTB2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000168807		0.517	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB2	HGNC	protein_coding	OTTHUMT00000268945.1	166	0.00	0	A			69294160	69294160	+1	no_errors	ENST00000336278	ensembl	human	known	69_37n	silent	45	66.67	90	SNP	1.000	G
SNTB2	6645	genome.wustl.edu	37	16	69294160	69294160	+	Silent	SNP	A	A	G			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr16:69294160A>G	ENST00000336278.4	+	3	1040	c.1002A>G	c.(1000-1002)gaA>gaG	p.E334E	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	334	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		GGCTGGCAGAACAGGTAGGCT	0.517																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)	dbGAP											0													94.0	76.0	82.0					16																	69294160		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"""syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"""	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.1002A>G	16.37:g.69294160A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BY09	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.E334	ENST00000336278.4	37	c.1002	CCDS10873.1	16																																																																																			SNTB2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000168807		0.517	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB2	HGNC	protein_coding	OTTHUMT00000268945.1	205	0.49	1	A			69294160	69294160	+1	no_errors	ENST00000336278	ensembl	human	known	69_37n	silent	45	66.67	90	SNP	1.000	G
SPIB	6689	genome.wustl.edu	37	19	50926253	50926253	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr19:50926253delC	ENST00000595883.1	+	4	323	c.298delC	c.(298-300)cctfs	p.P100fs	SPIB_ENST00000596074.1_Intron|SPIB_ENST00000439922.2_Intron|CTD-2545M3.6_ENST00000599632.1_Frame_Shift_Del_p.A234fs|SPIB_ENST00000597855.1_Frame_Shift_Del_p.P100fs|SPIB_ENST00000270632.7_Frame_Shift_Del_p.P100fs	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	100					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGCCCCGGGGCCTGGCCTCCC	0.642																																						dbGAP											0													27.0	30.0	29.0					19																	50926253		2196	4281	6477	-	-	-	SO:0001589	frameshift_variant	0				CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.298delC	19.37:g.50926253delC	ENSP00000471921:p.Pro100fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9C9|B4DUG6|Q15359	Frame_Shift_Del	DEL	pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets	p.P100fs	ENST00000595883.1	37	c.298	CCDS33080.1	19																																																																																			SPIB	-	NULL	ENSG00000142539		0.642	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIB	HGNC	protein_coding	OTTHUMT00000464744.1	12	0.00	0	C	NM_003121		50926253	50926253	+1	no_errors	ENST00000270632	ensembl	human	known	69_37n	frame_shift_del	10	37.50	6	DEL	0.982	-
SREBF1	6720	genome.wustl.edu	37	17	17716089	17716090	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr17:17716089_17716090insAG	ENST00000261646.5	-	19	3474_3475	c.3290_3291insCT	c.(3289-3291)ctgfs	p.L1097fs	SREBF1_ENST00000355815.4_Frame_Shift_Ins_p.L1127fs|SREBF1_ENST00000395757.1_Frame_Shift_Ins_p.L843fs|SREBF1_ENST00000338854.5_Intron|MIR33B_ENST00000385104.1_RNA	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1097					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						AGCCGGGGGGCAGGTAGCAGGA	0.743																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.3289_3290dupCT	17.37:g.17716090_17716091dupAG	ENSP00000261646:p.Leu1097fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Frame_Shift_Ins	INS	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.P1128fs	ENST00000261646.5	37	c.3381_3380	CCDS11189.1	17																																																																																			SREBF1	-	NULL	ENSG00000072310		0.743	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	HGNC	protein_coding	OTTHUMT00000131771.1	9	0.00	0	-	NM_004176		17716089	17716090	-1	no_errors	ENST00000355815	ensembl	human	known	69_37n	frame_shift_ins	11	26.67	4	INS	1.000:1.000	AG
SREBF1	6720	genome.wustl.edu	37	17	17716089	17716090	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr17:17716089_17716090insAG	ENST00000261646.5	-	19	3474_3475	c.3290_3291insCT	c.(3289-3291)ctgfs	p.L1097fs	SREBF1_ENST00000355815.4_Frame_Shift_Ins_p.L1127fs|SREBF1_ENST00000395757.1_Frame_Shift_Ins_p.L843fs|SREBF1_ENST00000338854.5_Intron|MIR33B_ENST00000385104.1_RNA	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1097					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						AGCCGGGGGGCAGGTAGCAGGA	0.743																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.3289_3290dupCT	17.37:g.17716090_17716091dupAG	ENSP00000261646:p.Leu1097fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Frame_Shift_Ins	INS	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.P1128fs	ENST00000261646.5	37	c.3381_3380	CCDS11189.1	17																																																																																			SREBF1	-	NULL	ENSG00000072310		0.743	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	HGNC	protein_coding	OTTHUMT00000131771.1	9	0.00	0	-	NM_004176		17716089	17716090	-1	no_errors	ENST00000355815	ensembl	human	known	69_37n	frame_shift_ins	11	26.67	4	INS	1.000:1.000	AG
SYNCRIP	10492	genome.wustl.edu	37	6	86332352	86332353	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr6:86332352_86332353delTG	ENST00000369622.3	-	8	1355_1356	c.855_856delCA	c.(853-858)aacagafs	p.NR285fs	SYNCRIP_ENST00000355238.6_Frame_Shift_Del_p.NR285fs	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	285	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R286fs(2)|p.G287fs*5(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CAAAAGCCTCTGTTTTTTTTCT	0.416																																						dbGAP											3	Complex(2)|Deletion - Frameshift(1)	central_nervous_system(3)																																								-	-	-	SO:0001589	frameshift_variant	0			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.855_856delCA	6.37:g.86332352_86332353delTG	ENSP00000358635:p.Asn285fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.N285fs	ENST00000369622.3	37	c.856_855	CCDS5005.1	6																																																																																			SYNCRIP	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000135316		0.416	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNCRIP	HGNC	protein_coding	OTTHUMT00000041396.1	405	0.00	0	TG	NM_006372		86332352	86332353	-1	no_errors	ENST00000369622	ensembl	human	known	69_37n	frame_shift_del	259	21.52	71	DEL	1.000:1.000	-
SYNCRIP	10492	genome.wustl.edu	37	6	86332352	86332353	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr6:86332352_86332353delTG	ENST00000369622.3	-	8	1355_1356	c.855_856delCA	c.(853-858)aacagafs	p.NR285fs	SYNCRIP_ENST00000355238.6_Frame_Shift_Del_p.NR285fs	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	285	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R286fs(2)|p.G287fs*5(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CAAAAGCCTCTGTTTTTTTTCT	0.416																																						dbGAP											3	Complex(2)|Deletion - Frameshift(1)	central_nervous_system(3)																																								-	-	-	SO:0001589	frameshift_variant	0			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.855_856delCA	6.37:g.86332352_86332353delTG	ENSP00000358635:p.Asn285fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.N285fs	ENST00000369622.3	37	c.856_855	CCDS5005.1	6																																																																																			SYNCRIP	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000135316		0.416	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNCRIP	HGNC	protein_coding	OTTHUMT00000041396.1	364	0.00	0	TG	NM_006372		86332352	86332353	-1	no_errors	ENST00000369622	ensembl	human	known	69_37n	frame_shift_del	259	21.52	71	DEL	1.000:1.000	-
TIPIN	54962	genome.wustl.edu	37	15	66629421	66629421	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr15:66629421C>G	ENST00000261881.4	-	8	866	c.781G>C	c.(781-783)Gac>Cac	p.D261H	TIPIN_ENST00000367709.4_Missense_Mutation_p.D160H	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	261					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						CATGGATTGTCCAGAATGTCT	0.388																																						dbGAP											0													187.0	166.0	173.0					15																	66629421		2200	4299	6499	-	-	-	SO:0001583	missense	0			BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.781G>C	15.37:g.66629421C>G	ENSP00000261881:p.Asp261His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2CW64|Q9NWZ6	Missense_Mutation	SNP	pfam_Swi3	p.D261H	ENST00000261881.4	37	c.781	CCDS10215.1	15	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425914	0.25726	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.16457	2.34;2.57	4.56	3.63	0.41609	.	0.602886	0.16728	N	0.201995	T	0.18509	0.0444	L	0.60455	1.87	0.09310	N	1	B	0.18013	0.025	B	0.16722	0.016	T	0.13388	-1.0511	10	0.49607	T	0.09	-1.6558	10.2363	0.43286	0.0:0.9033:0.0:0.0967	.	261	Q9BVW5	TIPIN_HUMAN	H	160;261	ENSP00000356682:D160H;ENSP00000261881:D261H	ENSP00000261881:D261H	D	-	1	0	TIPIN	64416475	0.006000	0.16342	0.001000	0.08648	0.008000	0.06430	1.315000	0.33608	1.016000	0.39470	0.655000	0.94253	GAC	TIPIN	-	NULL	ENSG00000075131		0.388	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIPIN	HGNC	protein_coding	OTTHUMT00000256897.2	391	0.26	1	C	NM_017858		66629421	66629421	-1	no_errors	ENST00000261881	ensembl	human	known	69_37n	missense	270	41.05	188	SNP	0.003	G
TIPIN	54962	genome.wustl.edu	37	15	66629421	66629421	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr15:66629421C>G	ENST00000261881.4	-	8	866	c.781G>C	c.(781-783)Gac>Cac	p.D261H	TIPIN_ENST00000367709.4_Missense_Mutation_p.D160H	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	261					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						CATGGATTGTCCAGAATGTCT	0.388																																						dbGAP											0													187.0	166.0	173.0					15																	66629421		2200	4299	6499	-	-	-	SO:0001583	missense	0			BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.781G>C	15.37:g.66629421C>G	ENSP00000261881:p.Asp261His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2CW64|Q9NWZ6	Missense_Mutation	SNP	pfam_Swi3	p.D261H	ENST00000261881.4	37	c.781	CCDS10215.1	15	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425914	0.25726	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.16457	2.34;2.57	4.56	3.63	0.41609	.	0.602886	0.16728	N	0.201995	T	0.18509	0.0444	L	0.60455	1.87	0.09310	N	1	B	0.18013	0.025	B	0.16722	0.016	T	0.13388	-1.0511	10	0.49607	T	0.09	-1.6558	10.2363	0.43286	0.0:0.9033:0.0:0.0967	.	261	Q9BVW5	TIPIN_HUMAN	H	160;261	ENSP00000356682:D160H;ENSP00000261881:D261H	ENSP00000261881:D261H	D	-	1	0	TIPIN	64416475	0.006000	0.16342	0.001000	0.08648	0.008000	0.06430	1.315000	0.33608	1.016000	0.39470	0.655000	0.94253	GAC	TIPIN	-	NULL	ENSG00000075131		0.388	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIPIN	HGNC	protein_coding	OTTHUMT00000256897.2	494	0.00	0	C	NM_017858		66629421	66629421	-1	no_errors	ENST00000261881	ensembl	human	known	69_37n	missense	270	41.05	188	SNP	0.003	G
TP53	7157	genome.wustl.edu	37	17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr17:7578524G>C	ENST00000269305.4	-	5	595	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_ENST00000420246.2_Missense_Mutation_p.Q136E|TP53_ENST00000413465.2_Missense_Mutation_p.Q136E|TP53_ENST00000445888.2_Missense_Mutation_p.Q136E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.Q136E|TP53_ENST00000455263.2_Missense_Mutation_p.Q136E	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTGGCCAGTTGGCAAAACATC	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	67	Substitution - Nonsense(36)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(4)|Insertion - In frame(2)|Insertion - Frameshift(1)|Complex - deletion inframe(1)	upper_aerodigestive_tract(9)|ovary(9)|urinary_tract(8)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|breast(4)|bone(4)|large_intestine(3)|oesophagus(3)|skin(3)|lung(3)|soft_tissue(1)|endometrium(1)|pancreas(1)	GRCh37	CM971503	TP53	M							52.0	52.0	52.0					17																	7578524		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.406C>G	17.37:g.7578524G>C	ENSP00000269305:p.Gln136Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Q136E	ENST00000269305.4	37	c.406	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708589	0.89018	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	M	0.85373	2.75	0.80722	D	1	P;D;P;D;D;D;D	0.67145	0.95;0.977;0.572;0.989;0.996;0.981;0.996	P;D;B;P;D;D;D	0.69654	0.794;0.928;0.197;0.888;0.965;0.941;0.909	D	0.97401	0.9996	10	0.87932	D	0	-25.5387	17.2272	0.86973	0.0:0.0:1.0:0.0	.	97;136;136;43;136;136;136	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	136;136;136;136;136;136;125;43;4;43;4;136	ENSP00000410739:Q136E;ENSP00000352610:Q136E;ENSP00000269305:Q136E;ENSP00000398846:Q136E;ENSP00000391127:Q136E;ENSP00000391478:Q136E;ENSP00000425104:Q4E;ENSP00000423862:Q43E;ENSP00000424104:Q136E	ENSP00000269305:Q136E	Q	-	1	0	TP53	7519249	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.809000	0.99208	2.733000	0.93635	0.655000	0.94253	CAA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	138	0.00	0	G	NM_000546		7578524	7578524	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	49	59.52	75	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr17:7578524G>C	ENST00000269305.4	-	5	595	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_ENST00000420246.2_Missense_Mutation_p.Q136E|TP53_ENST00000413465.2_Missense_Mutation_p.Q136E|TP53_ENST00000445888.2_Missense_Mutation_p.Q136E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.Q136E|TP53_ENST00000455263.2_Missense_Mutation_p.Q136E	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTGGCCAGTTGGCAAAACATC	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	67	Substitution - Nonsense(36)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(4)|Insertion - In frame(2)|Insertion - Frameshift(1)|Complex - deletion inframe(1)	upper_aerodigestive_tract(9)|ovary(9)|urinary_tract(8)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|breast(4)|bone(4)|large_intestine(3)|oesophagus(3)|skin(3)|lung(3)|soft_tissue(1)|endometrium(1)|pancreas(1)	GRCh37	CM971503	TP53	M							52.0	52.0	52.0					17																	7578524		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.406C>G	17.37:g.7578524G>C	ENSP00000269305:p.Gln136Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Q136E	ENST00000269305.4	37	c.406	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708589	0.89018	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	M	0.85373	2.75	0.80722	D	1	P;D;P;D;D;D;D	0.67145	0.95;0.977;0.572;0.989;0.996;0.981;0.996	P;D;B;P;D;D;D	0.69654	0.794;0.928;0.197;0.888;0.965;0.941;0.909	D	0.97401	0.9996	10	0.87932	D	0	-25.5387	17.2272	0.86973	0.0:0.0:1.0:0.0	.	97;136;136;43;136;136;136	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	136;136;136;136;136;136;125;43;4;43;4;136	ENSP00000410739:Q136E;ENSP00000352610:Q136E;ENSP00000269305:Q136E;ENSP00000398846:Q136E;ENSP00000391127:Q136E;ENSP00000391478:Q136E;ENSP00000425104:Q4E;ENSP00000423862:Q43E;ENSP00000424104:Q136E	ENSP00000269305:Q136E	Q	-	1	0	TP53	7519249	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.809000	0.99208	2.733000	0.93635	0.655000	0.94253	CAA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	152	0.65	1	G	NM_000546		7578524	7578524	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	49	59.52	75	SNP	1.000	C
TUBA3C	7278	genome.wustl.edu	37	13	19751640	19751640	+	Silent	SNP	G	G	A	rs201681488	byFrequency	TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr13:19751640G>A	ENST00000400113.3	-	4	587	c.483C>T	c.(481-483)taC>taT	p.Y161Y		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	161					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ACTTCTTGCCGTAATCCACTG	0.592													G|||	3	0.000599042	0.0	0.0029	5008	,	,		17099	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													104.0	108.0	106.0					13																	19751640		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.483C>T	13.37:g.19751640G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.Y161	ENST00000400113.3	37	c.483	CCDS9284.1	13																																																																																			TUBA3C	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin	ENSG00000198033		0.592	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	248	0.00	0	G	NM_006001		19751640	19751640	-1	no_errors	ENST00000400113	ensembl	human	known	69_37n	silent	259	35.25	141	SNP	1.000	A
TUBA3C	7278	genome.wustl.edu	37	13	19751640	19751640	+	Silent	SNP	G	G	A	rs201681488	byFrequency	TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr13:19751640G>A	ENST00000400113.3	-	4	587	c.483C>T	c.(481-483)taC>taT	p.Y161Y		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	161					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ACTTCTTGCCGTAATCCACTG	0.592													G|||	3	0.000599042	0.0	0.0029	5008	,	,		17099	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													104.0	108.0	106.0					13																	19751640		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.483C>T	13.37:g.19751640G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.Y161	ENST00000400113.3	37	c.483	CCDS9284.1	13																																																																																			TUBA3C	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin	ENSG00000198033		0.592	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	274	0.36	1	G	NM_006001		19751640	19751640	-1	no_errors	ENST00000400113	ensembl	human	known	69_37n	silent	259	35.25	141	SNP	1.000	A
ZNF540	163255	genome.wustl.edu	37	19	38104051	38104051	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	4bca2c1c-af66-454e-a3a0-18f0e11318c8	g.chr19:38104051G>A	ENST00000592533.1	+	5	2202	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	ZNF540_ENST00000316433.4_Missense_Mutation_p.E624K|ZNF540_ENST00000589117.1_Missense_Mutation_p.E592K|ZNF540_ENST00000343599.5_Missense_Mutation_p.E624K	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	624					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACACCTTACTGAACATCAGAG	0.368																																						dbGAP											0													42.0	44.0	43.0					19																	38104051		2202	4300	6502	-	-	-	SO:0001583	missense	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1870G>A	19.37:g.38104051G>A	ENSP00000466274:p.Glu624Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E624K	ENST00000592533.1	37	c.1870	CCDS12506.1	19	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517128	0.27123	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.08193	3.12	2.8	-4.43	0.03568	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01870	0.0059	N	0.01454	-0.855	0.09310	N	1	B;B	0.20052	0.041;0.022	B;B	0.21360	0.031;0.034	T	0.42949	-0.9421	9	0.06365	T	0.9	.	2.642	0.04974	0.166:0.4209:0.2722:0.1409	.	592;624	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	K	624;592	ENSP00000324598:E624K	ENSP00000324598:E624K	E	+	1	0	ZNF540	42795891	0.000000	0.05858	0.002000	0.10522	0.884000	0.51177	-9.009000	0.00014	-0.682000	0.05197	0.305000	0.20034	GAA	ZNF540	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171817		0.368	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	73	0.00	0	G	NM_152606		38104051	38104051	+1	no_errors	ENST00000316433	ensembl	human	known	69_37n	missense	55	42.11	40	SNP	0.000	A
ZNF540	163255	genome.wustl.edu	37	19	38104051	38104051	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14Y-01A-21D-A12B-09	TCGA-E2-A14Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f63f0927-5186-4558-853d-4eed95ba0ac8	1297e0da-fbf8-4566-8f22-17095e4031f4	g.chr19:38104051G>A	ENST00000592533.1	+	5	2202	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	ZNF540_ENST00000316433.4_Missense_Mutation_p.E624K|ZNF540_ENST00000589117.1_Missense_Mutation_p.E592K|ZNF540_ENST00000343599.5_Missense_Mutation_p.E624K	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	624					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACACCTTACTGAACATCAGAG	0.368																																						dbGAP											0													42.0	44.0	43.0					19																	38104051		2202	4300	6502	-	-	-	SO:0001583	missense	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1870G>A	19.37:g.38104051G>A	ENSP00000466274:p.Glu624Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E624K	ENST00000592533.1	37	c.1870	CCDS12506.1	19	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517128	0.27123	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.08193	3.12	2.8	-4.43	0.03568	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01870	0.0059	N	0.01454	-0.855	0.09310	N	1	B;B	0.20052	0.041;0.022	B;B	0.21360	0.031;0.034	T	0.42949	-0.9421	9	0.06365	T	0.9	.	2.642	0.04974	0.166:0.4209:0.2722:0.1409	.	592;624	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	K	624;592	ENSP00000324598:E624K	ENSP00000324598:E624K	E	+	1	0	ZNF540	42795891	0.000000	0.05858	0.002000	0.10522	0.884000	0.51177	-9.009000	0.00014	-0.682000	0.05197	0.305000	0.20034	GAA	ZNF540	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171817		0.368	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	98	0.00	0	G	NM_152606		38104051	38104051	+1	no_errors	ENST00000316433	ensembl	human	known	69_37n	missense	55	42.11	40	SNP	0.000	A
