#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCB7	22	genome.wustl.edu	37	X	74296386	74296386	+	Missense_Mutation	SNP	G	G	A	rs375914198		TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chrX:74296386G>A	ENST00000373394.3	-	5	564	c.557C>T	c.(556-558)gCa>gTa	p.A186V	ABCB7_ENST00000253577.3_Missense_Mutation_p.A187V|ABCB7_ENST00000339447.4_Missense_Mutation_p.A146V|ABCB7_ENST00000534570.1_5'Flank			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	186	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TGCCATGGTTGCAACTGTATT	0.413																																						dbGAP											0													200.0	156.0	171.0					X																	74296386		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.557C>T	X.37:g.74296386G>A	ENSP00000362492:p.Ala186Val		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.A187V	ENST00000373394.3	37	c.560		X	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956461	0.34565	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949;ENST00000534524	D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85	5.31	4.44	0.53790	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.048171	0.85682	D	0.000000	D	0.82476	0.5045	N	0.16708	0.43	0.58432	D	0.999994	B;B;B;B;B	0.12013	0.003;0.004;0.005;0.004;0.004	B;B;B;B;B	0.27608	0.009;0.049;0.081;0.015;0.049	T	0.76255	-0.3026	10	0.16896	T	0.51	-9.4416	12.5193	0.56050	0.0844:0.0:0.9156:0.0	.	160;146;187;186;187	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	V	160;187;146;186;160;131	ENSP00000253577:A187V;ENSP00000343849:A146V;ENSP00000362492:A186V;ENSP00000436586:A160V;ENSP00000435521:A131V	ENSP00000253577:A187V	A	-	2	0	ABCB7	74213111	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.396000	0.73234	2.206000	0.71126	0.422000	0.28245	GCA	ABCB7	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000131269		0.413	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	ABCB7	HGNC	protein_coding	OTTHUMT00000057274.1	176	0.56	1	G	NM_004299		74296386	74296386	-1	no_errors	ENST00000253577	ensembl	human	known	69_37n	missense	268	11.80	36	SNP	1.000	A
ABCB7	22	genome.wustl.edu	37	X	74296386	74296386	+	Missense_Mutation	SNP	G	G	A	rs375914198		TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chrX:74296386G>A	ENST00000373394.3	-	5	564	c.557C>T	c.(556-558)gCa>gTa	p.A186V	ABCB7_ENST00000253577.3_Missense_Mutation_p.A187V|ABCB7_ENST00000339447.4_Missense_Mutation_p.A146V|ABCB7_ENST00000534570.1_5'Flank			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	186	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TGCCATGGTTGCAACTGTATT	0.413																																						dbGAP											0													200.0	156.0	171.0					X																	74296386		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.557C>T	X.37:g.74296386G>A	ENSP00000362492:p.Ala186Val		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.A187V	ENST00000373394.3	37	c.560		X	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956461	0.34565	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949;ENST00000534524	D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85	5.31	4.44	0.53790	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.048171	0.85682	D	0.000000	D	0.82476	0.5045	N	0.16708	0.43	0.58432	D	0.999994	B;B;B;B;B	0.12013	0.003;0.004;0.005;0.004;0.004	B;B;B;B;B	0.27608	0.009;0.049;0.081;0.015;0.049	T	0.76255	-0.3026	10	0.16896	T	0.51	-9.4416	12.5193	0.56050	0.0844:0.0:0.9156:0.0	.	160;146;187;186;187	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	V	160;187;146;186;160;131	ENSP00000253577:A187V;ENSP00000343849:A146V;ENSP00000362492:A186V;ENSP00000436586:A160V;ENSP00000435521:A131V	ENSP00000253577:A187V	A	-	2	0	ABCB7	74213111	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.396000	0.73234	2.206000	0.71126	0.422000	0.28245	GCA	ABCB7	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000131269		0.413	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	ABCB7	HGNC	protein_coding	OTTHUMT00000057274.1	204	0.00	0	G	NM_004299		74296386	74296386	-1	no_errors	ENST00000253577	ensembl	human	known	69_37n	missense	268	11.80	36	SNP	1.000	A
ADCY8	114	genome.wustl.edu	37	8	131826458	131826458	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr8:131826458G>A	ENST00000286355.5	-	14	4862	c.2770C>T	c.(2770-2772)Cgc>Tgc	p.R924C	ADCY8_ENST00000377928.3_Missense_Mutation_p.R793C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	924					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.R924C(1)|p.R924G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGTCCAGGCGGGCTGTGTAC	0.507										HNSCC(32;0.087)																												dbGAP											2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|lung(1)											135.0	108.0	117.0					8																	131826458		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2770C>T	8.37:g.131826458G>A	ENSP00000286355:p.Arg924Cys			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R924C	ENST00000286355.5	37	c.2770	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079468	0.76528	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.86097	-2.07;-1.72	5.87	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.92938	0.7753	M	0.90650	3.135	0.45330	D	0.99832	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.93269	0.6650	10	0.87932	D	0	.	12.0088	0.53276	0.0:0.0:0.7613:0.2387	.	793;924	E7EVL1;P40145	.;ADCY8_HUMAN	C	924;793	ENSP00000286355:R924C;ENSP00000367161:R793C	ENSP00000286355:R924C	R	-	1	0	ADCY8	131895640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.532000	0.45659	2.941000	0.99782	0.655000	0.94253	CGC	ADCY8	-	NULL	ENSG00000155897		0.507	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	232	0.00	0	G			131826458	131826458	-1	no_errors	ENST00000286355	ensembl	human	known	69_37n	missense	254	50.00	254	SNP	1.000	A
ADCY8	114	genome.wustl.edu	37	8	131826458	131826458	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr8:131826458G>A	ENST00000286355.5	-	14	4862	c.2770C>T	c.(2770-2772)Cgc>Tgc	p.R924C	ADCY8_ENST00000377928.3_Missense_Mutation_p.R793C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	924					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.R924C(1)|p.R924G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGTCCAGGCGGGCTGTGTAC	0.507										HNSCC(32;0.087)																												dbGAP											2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|lung(1)											135.0	108.0	117.0					8																	131826458		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2770C>T	8.37:g.131826458G>A	ENSP00000286355:p.Arg924Cys			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R924C	ENST00000286355.5	37	c.2770	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079468	0.76528	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.86097	-2.07;-1.72	5.87	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.92938	0.7753	M	0.90650	3.135	0.45330	D	0.99832	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.93269	0.6650	10	0.87932	D	0	.	12.0088	0.53276	0.0:0.0:0.7613:0.2387	.	793;924	E7EVL1;P40145	.;ADCY8_HUMAN	C	924;793	ENSP00000286355:R924C;ENSP00000367161:R793C	ENSP00000286355:R924C	R	-	1	0	ADCY8	131895640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.532000	0.45659	2.941000	0.99782	0.655000	0.94253	CGC	ADCY8	-	NULL	ENSG00000155897		0.507	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	265	0.00	0	G			131826458	131826458	-1	no_errors	ENST00000286355	ensembl	human	known	69_37n	missense	254	50.00	254	SNP	1.000	A
ANAPC5	51433	genome.wustl.edu	37	12	121775176	121775176	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr12:121775176T>A	ENST00000261819.3	-	6	798	c.677A>T	c.(676-678)gAt>gTt	p.D226V	ANAPC5_ENST00000441917.2_Missense_Mutation_p.D127V|ANAPC5_ENST00000344395.4_Missense_Mutation_p.D127V|ANAPC5_ENST00000536366.1_Missense_Mutation_p.D105V|ANAPC5_ENST00000544314.1_5'Flank|ANAPC5_ENST00000541887.1_Missense_Mutation_p.D226V	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	226					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTAGTCTCATCATTCTTTAG	0.353																																						dbGAP											0													74.0	75.0	74.0					12																	121775176		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.677A>T	12.37:g.121775176T>A	ENSP00000261819:p.Asp226Val		E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	smart_TPR_repeat	p.D226V	ENST00000261819.3	37	c.677	CCDS9220.1	12	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396209	0.83011	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000536366;ENST00000544442	T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.73305	0.3570	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.75932	-0.3143	10	0.87932	D	0	.	16.1492	0.81602	0.0:0.0:0.0:1.0	.	127;226	E9PFB2;Q9UJX4	.;APC5_HUMAN	V	127;226;226;127;105;127	ENSP00000415061:D127V;ENSP00000439875:D226V;ENSP00000261819:D226V;ENSP00000343787:D127V;ENSP00000445310:D105V;ENSP00000440800:D127V	ENSP00000261819:D226V	D	-	2	0	ANAPC5	120259559	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.381000	0.79718	2.272000	0.75746	0.460000	0.39030	GAT	ANAPC5	-	NULL	ENSG00000089053		0.353	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC5	HGNC	protein_coding	OTTHUMT00000402582.1	100	0.00	0	T			121775176	121775176	-1	no_errors	ENST00000261819	ensembl	human	known	69_37n	missense	66	24.14	21	SNP	1.000	A
ANAPC5	51433	genome.wustl.edu	37	12	121775176	121775176	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr12:121775176T>A	ENST00000261819.3	-	6	798	c.677A>T	c.(676-678)gAt>gTt	p.D226V	ANAPC5_ENST00000441917.2_Missense_Mutation_p.D127V|ANAPC5_ENST00000344395.4_Missense_Mutation_p.D127V|ANAPC5_ENST00000536366.1_Missense_Mutation_p.D105V|ANAPC5_ENST00000544314.1_5'Flank|ANAPC5_ENST00000541887.1_Missense_Mutation_p.D226V	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	226					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTAGTCTCATCATTCTTTAG	0.353																																						dbGAP											0													74.0	75.0	74.0					12																	121775176		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.677A>T	12.37:g.121775176T>A	ENSP00000261819:p.Asp226Val		E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	smart_TPR_repeat	p.D226V	ENST00000261819.3	37	c.677	CCDS9220.1	12	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396209	0.83011	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000536366;ENST00000544442	T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.73305	0.3570	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.75932	-0.3143	10	0.87932	D	0	.	16.1492	0.81602	0.0:0.0:0.0:1.0	.	127;226	E9PFB2;Q9UJX4	.;APC5_HUMAN	V	127;226;226;127;105;127	ENSP00000415061:D127V;ENSP00000439875:D226V;ENSP00000261819:D226V;ENSP00000343787:D127V;ENSP00000445310:D105V;ENSP00000440800:D127V	ENSP00000261819:D226V	D	-	2	0	ANAPC5	120259559	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.381000	0.79718	2.272000	0.75746	0.460000	0.39030	GAT	ANAPC5	-	NULL	ENSG00000089053		0.353	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC5	HGNC	protein_coding	OTTHUMT00000402582.1	96	0.00	0	T			121775176	121775176	-1	no_errors	ENST00000261819	ensembl	human	known	69_37n	missense	66	24.14	21	SNP	1.000	A
ANKRD50	57182	genome.wustl.edu	37	4	125593120	125593120	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr4:125593120T>C	ENST00000504087.1	-	4	2349	c.1312A>G	c.(1312-1314)Atg>Gtg	p.M438V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.M259V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	438										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GTATAACTCATAGCCAACATT	0.373																																						dbGAP											0													124.0	121.0	122.0					4																	125593120		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1312A>G	4.37:g.125593120T>C	ENSP00000425658:p.Met438Val		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M438V	ENST00000504087.1	37	c.1312	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	T	13.01	2.109952	0.37242	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.66995	-0.24;-0.21	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	L	0.50333	1.59	0.58432	D	0.999998	P	0.39624	0.681	B	0.40741	0.339	T	0.62515	-0.6838	10	0.30078	T	0.28	.	15.5649	0.76284	0.0:0.0:0.0:1.0	.	438	Q9ULJ7	ANR50_HUMAN	V	438;259	ENSP00000425658:M438V;ENSP00000425355:M259V	ENSP00000425658:M438V	M	-	1	0	ANKRD50	125812570	1.000000	0.71417	0.978000	0.43139	0.948000	0.59901	7.365000	0.79537	2.266000	0.75297	0.454000	0.30748	ATG	ANKRD50	-	NULL	ENSG00000151458		0.373	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1	173	0.00	0	T	NM_020337		125593120	125593120	-1	no_errors	ENST00000504087	ensembl	human	known	69_37n	missense	142	11.80	19	SNP	0.998	C
ANKRD50	57182	genome.wustl.edu	37	4	125593120	125593120	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr4:125593120T>C	ENST00000504087.1	-	4	2349	c.1312A>G	c.(1312-1314)Atg>Gtg	p.M438V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.M259V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	438										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GTATAACTCATAGCCAACATT	0.373																																						dbGAP											0													124.0	121.0	122.0					4																	125593120		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1312A>G	4.37:g.125593120T>C	ENSP00000425658:p.Met438Val		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M438V	ENST00000504087.1	37	c.1312	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	T	13.01	2.109952	0.37242	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.66995	-0.24;-0.21	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	L	0.50333	1.59	0.58432	D	0.999998	P	0.39624	0.681	B	0.40741	0.339	T	0.62515	-0.6838	10	0.30078	T	0.28	.	15.5649	0.76284	0.0:0.0:0.0:1.0	.	438	Q9ULJ7	ANR50_HUMAN	V	438;259	ENSP00000425658:M438V;ENSP00000425355:M259V	ENSP00000425658:M438V	M	-	1	0	ANKRD50	125812570	1.000000	0.71417	0.978000	0.43139	0.948000	0.59901	7.365000	0.79537	2.266000	0.75297	0.454000	0.30748	ATG	ANKRD50	-	NULL	ENSG00000151458		0.373	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1	172	0.00	0	T	NM_020337		125593120	125593120	-1	no_errors	ENST00000504087	ensembl	human	known	69_37n	missense	142	11.80	19	SNP	0.998	C
ARHGAP6	395	genome.wustl.edu	37	X	11162155	11162155	+	Silent	SNP	G	G	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chrX:11162155G>A	ENST00000337414.4	-	11	2993	c.2121C>T	c.(2119-2121)ggC>ggT	p.G707G	ARHGAP6_ENST00000534860.1_Silent_p.G532G|ARHGAP6_ENST00000380718.1_Silent_p.G707G|ARHGAP6_ENST00000413512.3_3'UTR|ARHGAP6_ENST00000380736.1_Silent_p.G504G|ARHGAP6_ENST00000303025.6_Silent_p.G504G	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	707					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ACGACAAGTGGCCCACCAGCA	0.607											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													118.0	112.0	114.0					X																	11162155		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2121C>T	X.37:g.11162155G>A		670	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.G707	ENST00000337414.4	37	c.2121	CCDS14140.1	X																																																																																			ARHGAP6	-	NULL	ENSG00000047648		0.607	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	120	0.00	0	G	NM_013427		11162155	11162155	-1	no_errors	ENST00000337414	ensembl	human	known	69_37n	silent	80	27.27	30	SNP	1.000	A
ARHGAP6	395	genome.wustl.edu	37	X	11162155	11162155	+	Silent	SNP	G	G	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chrX:11162155G>A	ENST00000337414.4	-	11	2993	c.2121C>T	c.(2119-2121)ggC>ggT	p.G707G	ARHGAP6_ENST00000534860.1_Silent_p.G532G|ARHGAP6_ENST00000380718.1_Silent_p.G707G|ARHGAP6_ENST00000413512.3_3'UTR|ARHGAP6_ENST00000380736.1_Silent_p.G504G|ARHGAP6_ENST00000303025.6_Silent_p.G504G	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	707					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ACGACAAGTGGCCCACCAGCA	0.607											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													118.0	112.0	114.0					X																	11162155		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2121C>T	X.37:g.11162155G>A		670	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.G707	ENST00000337414.4	37	c.2121	CCDS14140.1	X																																																																																			ARHGAP6	-	NULL	ENSG00000047648		0.607	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	142	0.00	0	G	NM_013427		11162155	11162155	-1	no_errors	ENST00000337414	ensembl	human	known	69_37n	silent	80	27.27	30	SNP	1.000	A
ARHGEF9	23229	genome.wustl.edu	37	X	62917109	62917109	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chrX:62917109C>T	ENST00000253401.6	-	4	1257	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.E151K|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.E132K|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.E51K|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.E100K	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	153	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TAGATATCTTCAATGTTCCCA	0.468																																						dbGAP											0													125.0	97.0	106.0					X																	62917109		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.457G>A	X.37:g.62917109C>T	ENSP00000253401:p.Glu153Lys		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E153K	ENST00000253401.6	37	c.457	CCDS35315.1	X	.	.	.	.	.	.	.	.	.	.	C	32	5.107992	0.94292	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.59	5.59	0.84812	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.80613	0.4656	M	0.75884	2.315	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.994;0.999	D;D;P;D	0.65443	0.935;0.935;0.893;0.935	T	0.80493	-0.1358	10	0.41790	T	0.15	.	17.019	0.86428	0.0:1.0:0.0:0.0	.	100;151;153;153	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	K	153;151;100;51;132	ENSP00000253401:E153K;ENSP00000364012:E151K;ENSP00000399994:E100K;ENSP00000364004:E51K;ENSP00000364006:E132K	ENSP00000253401:E153K	E	-	1	0	ARHGEF9	62833834	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.296000	0.78790	2.333000	0.79357	0.513000	0.50165	GAA	ARHGEF9	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000131089		0.468	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1	247	0.40	1	C			62917109	62917109	-1	no_errors	ENST00000253401	ensembl	human	known	69_37n	missense	198	26.12	70	SNP	1.000	T
ARHGEF9	23229	genome.wustl.edu	37	X	62917109	62917109	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chrX:62917109C>T	ENST00000253401.6	-	4	1257	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.E151K|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.E132K|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.E51K|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.E100K	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	153	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TAGATATCTTCAATGTTCCCA	0.468																																						dbGAP											0													125.0	97.0	106.0					X																	62917109		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.457G>A	X.37:g.62917109C>T	ENSP00000253401:p.Glu153Lys		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E153K	ENST00000253401.6	37	c.457	CCDS35315.1	X	.	.	.	.	.	.	.	.	.	.	C	32	5.107992	0.94292	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.59	5.59	0.84812	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.80613	0.4656	M	0.75884	2.315	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.994;0.999	D;D;P;D	0.65443	0.935;0.935;0.893;0.935	T	0.80493	-0.1358	10	0.41790	T	0.15	.	17.019	0.86428	0.0:1.0:0.0:0.0	.	100;151;153;153	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	K	153;151;100;51;132	ENSP00000253401:E153K;ENSP00000364012:E151K;ENSP00000399994:E100K;ENSP00000364004:E51K;ENSP00000364006:E132K	ENSP00000253401:E153K	E	-	1	0	ARHGEF9	62833834	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.296000	0.78790	2.333000	0.79357	0.513000	0.50165	GAA	ARHGEF9	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000131089		0.468	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1	282	0.00	0	C			62917109	62917109	-1	no_errors	ENST00000253401	ensembl	human	known	69_37n	missense	198	26.12	70	SNP	1.000	T
CARD9	64170	genome.wustl.edu	37	9	139266463	139266463	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr9:139266463G>A	ENST00000371732.5	-	2	233	c.68C>T	c.(67-69)tCg>tTg	p.S23L	CARD9_ENST00000371734.3_Missense_Mutation_p.S23L|CARD9_ENST00000315908.7_Missense_Mutation_p.S23L	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	23	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)	p.S23L(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GTCGATGACCGAGGTGAGCGT	0.632																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											145.0	106.0	119.0					9																	139266463		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.68C>T	9.37:g.139266463G>A	ENSP00000360797:p.Ser23Leu		Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.S23L	ENST00000371732.5	37	c.68	CCDS6997.1	9	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945884	0.34377	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.22336	1.96;1.96;1.96	4.88	3.96	0.45880	DEATH-like (2);Caspase Recruitment (2);	0.142736	0.42821	D	0.000660	T	0.26231	0.0640	L	0.28274	0.84	0.32683	N	0.515202	D;D;D	0.67145	0.996;0.996;0.996	P;P;P	0.56042	0.685;0.79;0.79	T	0.28713	-1.0035	10	0.42905	T	0.14	-13.3286	14.1399	0.65313	0.0:0.1513:0.8487:0.0	.	23;23;23	Q9H257-2;Q5SXM5;Q9H257	.;.;CARD9_HUMAN	L	23	ENSP00000360799:S23L;ENSP00000360797:S23L;ENSP00000323719:S23L	ENSP00000323719:S23L	S	-	2	0	CARD9	138386284	1.000000	0.71417	0.701000	0.30321	0.081000	0.17604	3.161000	0.50747	1.233000	0.43693	0.549000	0.68633	TCG	CARD9	-	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	ENSG00000187796		0.632	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD9	HGNC	protein_coding	OTTHUMT00000055053.1	49	0.00	0	G	NM_052813		139266463	139266463	-1	no_errors	ENST00000371732	ensembl	human	known	69_37n	missense	87	15.53	16	SNP	0.765	A
CCR1	1230	genome.wustl.edu	37	3	46244889	46244889	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr3:46244889C>T	ENST00000296140.3	-	2	1041	c.916G>A	c.(916-918)Gag>Aag	p.E306K	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	306					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CGGAACCTCTCACCAACGAAG	0.582																																						dbGAP											0													96.0	82.0	87.0					3																	46244889		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.916G>A	3.37:g.46244889C>T	ENSP00000296140:p.Glu306Lys		Q86VA9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR1,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt	p.E306K	ENST00000296140.3	37	c.916	CCDS2737.1	3	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932089	0.34096	.	.	ENSG00000163823	ENST00000296140	T	0.30714	1.52	5.41	3.59	0.41128	.	0.279016	0.32218	N	0.006410	T	0.49558	0.1564	H	0.94503	3.545	0.58432	D	0.999997	B	0.32939	0.391	B	0.34873	0.191	T	0.62324	-0.6878	10	0.66056	D	0.02	.	16.0836	0.81023	0.0:0.7463:0.2537:0.0	.	306	P32246	CCR1_HUMAN	K	306	ENSP00000296140:E306K	ENSP00000296140:E306K	E	-	1	0	CCR1	46219893	0.981000	0.34729	0.179000	0.23059	0.005000	0.04900	2.606000	0.46291	0.747000	0.32809	0.561000	0.74099	GAG	CCR1	-	pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_NPY_rcpt	ENSG00000163823		0.582	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR1	HGNC	protein_coding	OTTHUMT00000257325.2	117	0.00	0	C	NM_001295		46244889	46244889	-1	no_errors	ENST00000296140	ensembl	human	known	69_37n	missense	99	31.25	45	SNP	0.988	T
CCR1	1230	genome.wustl.edu	37	3	46244889	46244889	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr3:46244889C>T	ENST00000296140.3	-	2	1041	c.916G>A	c.(916-918)Gag>Aag	p.E306K	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	306					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CGGAACCTCTCACCAACGAAG	0.582																																						dbGAP											0													96.0	82.0	87.0					3																	46244889		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.916G>A	3.37:g.46244889C>T	ENSP00000296140:p.Glu306Lys		Q86VA9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR1,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt	p.E306K	ENST00000296140.3	37	c.916	CCDS2737.1	3	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932089	0.34096	.	.	ENSG00000163823	ENST00000296140	T	0.30714	1.52	5.41	3.59	0.41128	.	0.279016	0.32218	N	0.006410	T	0.49558	0.1564	H	0.94503	3.545	0.58432	D	0.999997	B	0.32939	0.391	B	0.34873	0.191	T	0.62324	-0.6878	10	0.66056	D	0.02	.	16.0836	0.81023	0.0:0.7463:0.2537:0.0	.	306	P32246	CCR1_HUMAN	K	306	ENSP00000296140:E306K	ENSP00000296140:E306K	E	-	1	0	CCR1	46219893	0.981000	0.34729	0.179000	0.23059	0.005000	0.04900	2.606000	0.46291	0.747000	0.32809	0.561000	0.74099	GAG	CCR1	-	pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_NPY_rcpt	ENSG00000163823		0.582	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR1	HGNC	protein_coding	OTTHUMT00000257325.2	142	0.00	0	C	NM_001295		46244889	46244889	-1	no_errors	ENST00000296140	ensembl	human	known	69_37n	missense	99	31.25	45	SNP	0.988	T
CDC37L1	55664	genome.wustl.edu	37	9	4697194	4697194	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr9:4697194C>T	ENST00000381854.3	+	4	809	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	CDC37L1_ENST00000381858.1_Missense_Mutation_p.H203Y	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	203	Self-association and interaction with Hsp90.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		ATGGTGTTTTCACCTGGAAGC	0.353																																						dbGAP											0													138.0	131.0	133.0					9																	4697194		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"""CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1"", ""cell division cycle 37 homolog (S. cerevisiae)-like 1"""				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.607C>T	9.37:g.4697194C>T	ENSP00000371278:p.His203Tyr		B1AL70|Q9NWS3|Q9NX16	Missense_Mutation	SNP	pfam_Cdc37_Hsp90-bd	p.H203Y	ENST00000381854.3	37	c.607	CCDS6454.1	9	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306474	0.81247	.	.	ENSG00000106993	ENST00000381858;ENST00000381854	T;T	0.43294	0.95;0.95	5.81	5.81	0.92471	Cdc37, Hsp90 binding (1);	0.139397	0.64402	D	0.000005	T	0.58694	0.2140	L	0.51422	1.61	0.47862	D	0.999536	D	0.58970	0.984	P	0.61132	0.884	T	0.55055	-0.8200	10	0.51188	T	0.08	-6.0637	20.0656	0.97703	0.0:1.0:0.0:0.0	.	203	Q7L3B6	CD37L_HUMAN	Y	203	ENSP00000371282:H203Y;ENSP00000371278:H203Y	ENSP00000371278:H203Y	H	+	1	0	CDC37L1	4687194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.616000	0.61197	2.747000	0.94245	0.650000	0.86243	CAC	CDC37L1	-	pfam_Cdc37_Hsp90-bd	ENSG00000106993		0.353	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC37L1	HGNC	protein_coding	OTTHUMT00000051564.1	226	0.00	0	C	NM_017913		4697194	4697194	+1	no_errors	ENST00000381854	ensembl	human	known	69_37n	missense	185	23.55	57	SNP	1.000	T
CDC37L1	55664	genome.wustl.edu	37	9	4697194	4697194	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr9:4697194C>T	ENST00000381854.3	+	4	809	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	CDC37L1_ENST00000381858.1_Missense_Mutation_p.H203Y	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	203	Self-association and interaction with Hsp90.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		ATGGTGTTTTCACCTGGAAGC	0.353																																						dbGAP											0													138.0	131.0	133.0					9																	4697194		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"""CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1"", ""cell division cycle 37 homolog (S. cerevisiae)-like 1"""				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.607C>T	9.37:g.4697194C>T	ENSP00000371278:p.His203Tyr		B1AL70|Q9NWS3|Q9NX16	Missense_Mutation	SNP	pfam_Cdc37_Hsp90-bd	p.H203Y	ENST00000381854.3	37	c.607	CCDS6454.1	9	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306474	0.81247	.	.	ENSG00000106993	ENST00000381858;ENST00000381854	T;T	0.43294	0.95;0.95	5.81	5.81	0.92471	Cdc37, Hsp90 binding (1);	0.139397	0.64402	D	0.000005	T	0.58694	0.2140	L	0.51422	1.61	0.47862	D	0.999536	D	0.58970	0.984	P	0.61132	0.884	T	0.55055	-0.8200	10	0.51188	T	0.08	-6.0637	20.0656	0.97703	0.0:1.0:0.0:0.0	.	203	Q7L3B6	CD37L_HUMAN	Y	203	ENSP00000371282:H203Y;ENSP00000371278:H203Y	ENSP00000371278:H203Y	H	+	1	0	CDC37L1	4687194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.616000	0.61197	2.747000	0.94245	0.650000	0.86243	CAC	CDC37L1	-	pfam_Cdc37_Hsp90-bd	ENSG00000106993		0.353	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC37L1	HGNC	protein_coding	OTTHUMT00000051564.1	298	0.00	0	C	NM_017913		4697194	4697194	+1	no_errors	ENST00000381854	ensembl	human	known	69_37n	missense	185	23.55	57	SNP	1.000	T
CHD1	1105	genome.wustl.edu	37	5	98235337	98235337	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr5:98235337T>C	ENST00000284049.3	-	7	1081	c.932A>G	c.(931-933)aAa>aGa	p.K311R		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	311	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCCTGGTTCTTTGTTTTTTTC	0.413																																						dbGAP											0													174.0	191.0	185.0					5																	98235337		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.932A>G	5.37:g.98235337T>C	ENSP00000284049:p.Lys311Arg		Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K311R	ENST00000284049.3	37	c.932	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	T	14.48	2.548453	0.45383	.	.	ENSG00000153922	ENST00000284049	T	0.41758	0.99	5.96	5.96	0.96718	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.35067	U	0.003479	T	0.23688	0.0573	N	0.04508	-0.205	0.53688	D	0.999977	B	0.02656	0.0	B	0.06405	0.002	T	0.10894	-1.0610	10	0.19590	T	0.45	.	16.4277	0.83824	0.0:0.0:0.0:1.0	.	311	O14646	CHD1_HUMAN	R	311	ENSP00000284049:K311R	ENSP00000284049:K311R	K	-	2	0	CHD1	98263237	1.000000	0.71417	0.990000	0.47175	0.956000	0.61745	4.801000	0.62532	2.279000	0.76181	0.533000	0.62120	AAA	CHD1	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000153922		0.413	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	182	0.00	0	T	NM_001270		98235337	98235337	-1	no_errors	ENST00000284049	ensembl	human	known	69_37n	missense	133	15.29	24	SNP	1.000	C
CHD1	1105	genome.wustl.edu	37	5	98235337	98235337	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr5:98235337T>C	ENST00000284049.3	-	7	1081	c.932A>G	c.(931-933)aAa>aGa	p.K311R		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	311	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCCTGGTTCTTTGTTTTTTTC	0.413																																						dbGAP											0													174.0	191.0	185.0					5																	98235337		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.932A>G	5.37:g.98235337T>C	ENSP00000284049:p.Lys311Arg		Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K311R	ENST00000284049.3	37	c.932	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	T	14.48	2.548453	0.45383	.	.	ENSG00000153922	ENST00000284049	T	0.41758	0.99	5.96	5.96	0.96718	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.35067	U	0.003479	T	0.23688	0.0573	N	0.04508	-0.205	0.53688	D	0.999977	B	0.02656	0.0	B	0.06405	0.002	T	0.10894	-1.0610	10	0.19590	T	0.45	.	16.4277	0.83824	0.0:0.0:0.0:1.0	.	311	O14646	CHD1_HUMAN	R	311	ENSP00000284049:K311R	ENSP00000284049:K311R	K	-	2	0	CHD1	98263237	1.000000	0.71417	0.990000	0.47175	0.956000	0.61745	4.801000	0.62532	2.279000	0.76181	0.533000	0.62120	AAA	CHD1	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000153922		0.413	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	177	0.00	0	T	NM_001270		98235337	98235337	-1	no_errors	ENST00000284049	ensembl	human	known	69_37n	missense	133	15.29	24	SNP	1.000	C
CLDN5	7122	genome.wustl.edu	37	22	19511619	19511619	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr22:19511619A>G	ENST00000406028.1	-	2	1475	c.415T>C	c.(415-417)Tgc>Cgc	p.C139R	CLDN5_ENST00000403084.1_Missense_Mutation_p.C139R|CLDN5_ENST00000413119.2_Missense_Mutation_p.C139R			O00501	CLD5_HUMAN	claudin 5	54					calcium-independent cell-cell adhesion (GO:0016338)|myelination (GO:0042552)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					TGCACCACGCACGACATCCAC	0.667																																						dbGAP											0													47.0	39.0	41.0					22																	19511619		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF000959	CCDS13763.2	22q11.21	2008-08-01	2008-08-01		ENSG00000184113	ENSG00000184113		"""Claudins"""	2047	protein-coding gene	gene with protein product		602101	"""transmembrane protein deleted in velocardiofacial syndrome"""	AWAL, TMVCF		9441748, 9192844	Standard	NM_003277		Approved	CPETRL1, BEC1	uc002zpu.2	O00501	OTTHUMG00000150441	ENST00000406028.1:c.415T>C	22.37:g.19511619A>G	ENSP00000385477:p.Cys139Arg		B3KS11|Q53XW2|Q8WUW3	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin5	p.C139R	ENST00000406028.1	37	c.415	CCDS13763.2	22	.	.	.	.	.	.	.	.	.	.	A	21.8	4.209191	0.79240	.	.	ENSG00000184113	ENST00000406028;ENST00000403084;ENST00000413119	D;D;D	0.98234	-4.81;-4.81;-4.81	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.99233	0.9733	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99007	1.0813	10	0.87932	D	0	.	14.051	0.64736	1.0:0.0:0.0:0.0	.	139	D3DX19	.	R	139	ENSP00000385477:C139R;ENSP00000384554:C139R;ENSP00000400612:C139R	ENSP00000384554:C139R	C	-	1	0	CLDN5	17891619	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.253000	0.95501	1.931000	0.55961	0.460000	0.39030	TGC	CLDN5	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000184113		0.667	CLDN5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLDN5	HGNC	protein_coding	OTTHUMT00000318122.3	36	0.00	0	A	NM_003277		19511619	19511619	-1	no_errors	ENST00000403084	ensembl	human	known	69_37n	missense	50	13.79	8	SNP	1.000	G
CNOT1	23019	genome.wustl.edu	37	16	58577315	58577316	+	Intron	INS	-	-	A	rs192650861|rs74558612|rs201890659|rs5817153	byFrequency	TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr16:58577315_58577316insA	ENST00000317147.5	-	31	4767				CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.L1544fs|CNOT1_ENST00000569240.1_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		gaatataacagaaaaaaaaaaa	0.277																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4434+194->T	16.37:g.58577326_58577326dupA			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Ins	INS	superfamily_ARM-type_fold	p.L1543fs	ENST00000317147.5	37	c.4630_4629	CCDS10799.1	16																																																																																			CNOT1	-	NULL	ENSG00000125107		0.277	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	35	0.00	0	-	NM_016284		58577315	58577316	-1	no_errors	ENST00000441024	ensembl	human	known	69_37n	frame_shift_ins	25	10.71	3	INS	0.004:0.000	A
COL12A1	1303	genome.wustl.edu	37	6	75834939	75834939	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr6:75834939A>C	ENST00000322507.8	-	40	6820	c.6511T>G	c.(6511-6513)Tta>Gta	p.L2171V	COL12A1_ENST00000345356.6_Missense_Mutation_p.L1007V|COL12A1_ENST00000483888.2_Missense_Mutation_p.L2171V|COL12A1_ENST00000416123.2_Missense_Mutation_p.L2171V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2171	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGATTGTGTAAGGTATATGAT	0.408																																						dbGAP											0													127.0	125.0	126.0					6																	75834939		1934	4135	6069	-	-	-	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6511T>G	6.37:g.75834939A>C	ENSP00000325146:p.Leu2171Val		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.L2171V	ENST00000322507.8	37	c.6511	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	A	15.34	2.803952	0.50315	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.22	-0.301	0.12800	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	T	0.56046	0.1959	M	0.75615	2.305	0.31720	N	0.638369	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.57825	-0.7744	10	0.66056	D	0.02	.	10.1509	0.42794	0.5917:0.0:0.4083:0.0	.	1007;2171	Q99715-2;Q99715	.;COCA1_HUMAN	V	2171;2171;1007;2171;2171	ENSP00000325146:L2171V;ENSP00000305147:L1007V;ENSP00000412864:L2171V;ENSP00000421216:L2171V	ENSP00000325146:L2171V	L	-	1	2	COL12A1	75891659	0.936000	0.31750	0.126000	0.21872	0.695000	0.40330	1.730000	0.38125	0.083000	0.17047	0.482000	0.46254	TTA	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.408	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	184	0.00	0	A	NM_004370		75834939	75834939	-1	no_errors	ENST00000322507	ensembl	human	known	69_37n	missense	201	17.62	43	SNP	0.268	C
COL12A1	1303	genome.wustl.edu	37	6	75834939	75834939	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr6:75834939A>C	ENST00000322507.8	-	40	6820	c.6511T>G	c.(6511-6513)Tta>Gta	p.L2171V	COL12A1_ENST00000345356.6_Missense_Mutation_p.L1007V|COL12A1_ENST00000483888.2_Missense_Mutation_p.L2171V|COL12A1_ENST00000416123.2_Missense_Mutation_p.L2171V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2171	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGATTGTGTAAGGTATATGAT	0.408																																						dbGAP											0													127.0	125.0	126.0					6																	75834939		1934	4135	6069	-	-	-	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6511T>G	6.37:g.75834939A>C	ENSP00000325146:p.Leu2171Val		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.L2171V	ENST00000322507.8	37	c.6511	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	A	15.34	2.803952	0.50315	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.22	-0.301	0.12800	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	T	0.56046	0.1959	M	0.75615	2.305	0.31720	N	0.638369	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.57825	-0.7744	10	0.66056	D	0.02	.	10.1509	0.42794	0.5917:0.0:0.4083:0.0	.	1007;2171	Q99715-2;Q99715	.;COCA1_HUMAN	V	2171;2171;1007;2171;2171	ENSP00000325146:L2171V;ENSP00000305147:L1007V;ENSP00000412864:L2171V;ENSP00000421216:L2171V	ENSP00000325146:L2171V	L	-	1	2	COL12A1	75891659	0.936000	0.31750	0.126000	0.21872	0.695000	0.40330	1.730000	0.38125	0.083000	0.17047	0.482000	0.46254	TTA	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.408	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	236	0.42	1	A	NM_004370		75834939	75834939	-1	no_errors	ENST00000322507	ensembl	human	known	69_37n	missense	201	17.62	43	SNP	0.268	C
FAM153B	202134	genome.wustl.edu	37	5	175511989	175511989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr5:175511989C>A	ENST00000253490.4	+	1	81	c.24C>A	c.(22-24)tgC>tgA	p.C8*	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Intron|FAM153B_ENST00000510151.1_Intron			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	8										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		ATAGTTGTTGCCTCGAAGGTA	0.388																																						dbGAP											0													88.0	72.0	77.0					5																	175511989		1832	4077	5909	-	-	-	SO:0001587	stop_gained	0			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.24C>A	5.37:g.175511989C>A	ENSP00000253490:p.Cys8*		A8MTI1	Nonsense_Mutation	SNP	prints_FAM153	p.C8*	ENST00000253490.4	37	c.24		5	.	.	.	.	.	.	.	.	.	.	C	11.71	1.721290	0.30503	.	.	ENSG00000182230	ENST00000253490	.	.	.	0.622	-1.24	0.09435	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	8	.	ENSP00000253490:C8X	C	+	3	2	FAM153B	175444595	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.813000	0.01725	-1.406000	0.02045	-1.038000	0.02383	TGC	FAM153B	-	NULL	ENSG00000182230		0.388	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM153B	HGNC	protein_coding		231	0.00	0	C	NM_001079529		175511989	175511989	+1	no_errors	ENST00000253490	ensembl	human	known	69_37n	nonsense	326	12.13	45	SNP	0.000	A
FAM153B	202134	genome.wustl.edu	37	5	175511989	175511989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr5:175511989C>A	ENST00000253490.4	+	1	81	c.24C>A	c.(22-24)tgC>tgA	p.C8*	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Intron|FAM153B_ENST00000510151.1_Intron			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	8										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		ATAGTTGTTGCCTCGAAGGTA	0.388																																						dbGAP											0													88.0	72.0	77.0					5																	175511989		1832	4077	5909	-	-	-	SO:0001587	stop_gained	0			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.24C>A	5.37:g.175511989C>A	ENSP00000253490:p.Cys8*		A8MTI1	Nonsense_Mutation	SNP	prints_FAM153	p.C8*	ENST00000253490.4	37	c.24		5	.	.	.	.	.	.	.	.	.	.	C	11.71	1.721290	0.30503	.	.	ENSG00000182230	ENST00000253490	.	.	.	0.622	-1.24	0.09435	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	8	.	ENSP00000253490:C8X	C	+	3	2	FAM153B	175444595	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.813000	0.01725	-1.406000	0.02045	-1.038000	0.02383	TGC	FAM153B	-	NULL	ENSG00000182230		0.388	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM153B	HGNC	protein_coding		303	0.00	0	C	NM_001079529		175511989	175511989	+1	no_errors	ENST00000253490	ensembl	human	known	69_37n	nonsense	326	12.13	45	SNP	0.000	A
GHITM	27069	genome.wustl.edu	37	10	85902493	85902493	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr10:85902493T>C	ENST00000372134.3	+	3	405	c.212T>C	c.(211-213)aTg>aCg	p.M71T	RP11-338I21.1_ENST00000606511.1_RNA	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	71					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						GAACCATCGATGGAAAAAATA	0.383																																						dbGAP											0													85.0	87.0	87.0					10																	85902493		1843	4100	5943	-	-	-	SO:0001583	missense	0			AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.212T>C	10.37:g.85902493T>C	ENSP00000361207:p.Met71Thr		A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Missense_Mutation	SNP	pfam_Bax_inhibitor_1-related	p.M71T	ENST00000372134.3	37	c.212	CCDS41542.1	10	.	.	.	.	.	.	.	.	.	.	T	0.128	-1.117116	0.01799	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000436406;ENST00000339736	.	.	.	6.06	3.44	0.39384	.	0.762080	0.13279	N	0.399852	T	0.22898	0.0553	N	0.13043	0.29	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.17137	-1.0379	9	0.07813	T	0.8	-18.2994	10.4841	0.44711	0.0:0.156:0.0:0.844	.	71	Q9H3K2	GHITM_HUMAN	T	71;58;71;71	.	ENSP00000342214:M71T	M	+	2	0	GHITM	85892473	0.718000	0.27976	0.664000	0.29753	0.952000	0.60782	1.624000	0.37018	1.116000	0.41820	0.533000	0.62120	ATG	GHITM	-	NULL	ENSG00000165678		0.383	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHITM	HGNC	protein_coding	OTTHUMT00000049125.1	125	0.00	0	T	NM_014394		85902493	85902493	+1	no_errors	ENST00000372134	ensembl	human	known	69_37n	missense	109	15.50	20	SNP	0.103	C
GHITM	27069	genome.wustl.edu	37	10	85902493	85902493	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr10:85902493T>C	ENST00000372134.3	+	3	405	c.212T>C	c.(211-213)aTg>aCg	p.M71T	RP11-338I21.1_ENST00000606511.1_RNA	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	71					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						GAACCATCGATGGAAAAAATA	0.383																																						dbGAP											0													85.0	87.0	87.0					10																	85902493		1843	4100	5943	-	-	-	SO:0001583	missense	0			AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.212T>C	10.37:g.85902493T>C	ENSP00000361207:p.Met71Thr		A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Missense_Mutation	SNP	pfam_Bax_inhibitor_1-related	p.M71T	ENST00000372134.3	37	c.212	CCDS41542.1	10	.	.	.	.	.	.	.	.	.	.	T	0.128	-1.117116	0.01799	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000436406;ENST00000339736	.	.	.	6.06	3.44	0.39384	.	0.762080	0.13279	N	0.399852	T	0.22898	0.0553	N	0.13043	0.29	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.17137	-1.0379	9	0.07813	T	0.8	-18.2994	10.4841	0.44711	0.0:0.156:0.0:0.844	.	71	Q9H3K2	GHITM_HUMAN	T	71;58;71;71	.	ENSP00000342214:M71T	M	+	2	0	GHITM	85892473	0.718000	0.27976	0.664000	0.29753	0.952000	0.60782	1.624000	0.37018	1.116000	0.41820	0.533000	0.62120	ATG	GHITM	-	NULL	ENSG00000165678		0.383	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHITM	HGNC	protein_coding	OTTHUMT00000049125.1	148	0.00	0	T	NM_014394		85902493	85902493	+1	no_errors	ENST00000372134	ensembl	human	known	69_37n	missense	109	15.50	20	SNP	0.103	C
GNAI2	2771	genome.wustl.edu	37	3	50273876	50273876	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr3:50273876C>A	ENST00000313601.6	+	1	493	c.109C>A	c.(109-111)Ctg>Atg	p.L37M	GNAI2_ENST00000440628.1_5'Flank|GNAI2_ENST00000536647.1_5'UTR|GNAI2_ENST00000422163.1_Intron|GNAI2_ENST00000491100.1_Intron	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	37					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GGTGAAGTTGCTGCTGTTGGG	0.627																																						dbGAP											0													90.0	90.0	90.0					3																	50273876		2202	4300	6502	-	-	-	SO:0001583	missense	0			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.109C>A	3.37:g.50273876C>A	ENSP00000312999:p.Leu37Met		B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA	p.L37M	ENST00000313601.6	37	c.109	CCDS2813.1	3	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781933	0.90282	.	.	ENSG00000114353	ENST00000313601;ENST00000540560	D	0.94758	-3.51	5.32	4.44	0.53790	.	0.078507	0.52532	D	0.000073	D	0.98134	0.9384	H	0.98238	4.18	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	D	0.98352	1.0544	10	0.87932	D	0	.	11.6164	0.51092	0.0:0.9128:0.0:0.0872	.	37	P04899	GNAI2_HUMAN	M	37	ENSP00000312999:L37M	ENSP00000312999:L37M	L	+	1	2	GNAI2	50248880	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.409000	0.80053	1.225000	0.43566	0.650000	0.86243	CTG	GNAI2	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000114353		0.627	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI2	HGNC	protein_coding	OTTHUMT00000346688.1	118	0.00	0	C	NM_002070		50273876	50273876	+1	no_errors	ENST00000313601	ensembl	human	known	69_37n	missense	70	39.66	46	SNP	1.000	A
GNAI2	2771	genome.wustl.edu	37	3	50273876	50273876	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr3:50273876C>A	ENST00000313601.6	+	1	493	c.109C>A	c.(109-111)Ctg>Atg	p.L37M	GNAI2_ENST00000440628.1_5'Flank|GNAI2_ENST00000536647.1_5'UTR|GNAI2_ENST00000422163.1_Intron|GNAI2_ENST00000491100.1_Intron	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	37					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GGTGAAGTTGCTGCTGTTGGG	0.627																																						dbGAP											0													90.0	90.0	90.0					3																	50273876		2202	4300	6502	-	-	-	SO:0001583	missense	0			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.109C>A	3.37:g.50273876C>A	ENSP00000312999:p.Leu37Met		B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA	p.L37M	ENST00000313601.6	37	c.109	CCDS2813.1	3	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781933	0.90282	.	.	ENSG00000114353	ENST00000313601;ENST00000540560	D	0.94758	-3.51	5.32	4.44	0.53790	.	0.078507	0.52532	D	0.000073	D	0.98134	0.9384	H	0.98238	4.18	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	D	0.98352	1.0544	10	0.87932	D	0	.	11.6164	0.51092	0.0:0.9128:0.0:0.0872	.	37	P04899	GNAI2_HUMAN	M	37	ENSP00000312999:L37M	ENSP00000312999:L37M	L	+	1	2	GNAI2	50248880	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.409000	0.80053	1.225000	0.43566	0.650000	0.86243	CTG	GNAI2	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000114353		0.627	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI2	HGNC	protein_coding	OTTHUMT00000346688.1	139	0.00	0	C	NM_002070		50273876	50273876	+1	no_errors	ENST00000313601	ensembl	human	known	69_37n	missense	70	39.66	46	SNP	1.000	A
GOLGA2P5	55592	genome.wustl.edu	37	12	100562921	100562921	+	RNA	DEL	T	T	-			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr12:100562921delT	ENST00000397112.4	-	0	599					NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GTCTCATTTGTTTTttttttt	0.403																																						dbGAP											0																																										-	-	-			0																															12.37:g.100562921delT			Q9NSV2	RNA	DEL	-	NULL	ENST00000397112.4	37	NULL		12																																																																																			GOLGA2P5	-	-	ENSG00000238105		0.403	GOLGA2B-004	KNOWN	basic	processed_transcript	GOLGA2P5	HGNC	pseudogene	OTTHUMT00000396439.2	22	0.00	0	T			100562921	100562921	-1	no_errors	ENST00000421840	ensembl	human	known	69_37n	rna	28	12.50	4	DEL	0.000	-
HRNR	388697	genome.wustl.edu	37	1	152185679	152185679	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr1:152185679C>A	ENST00000368801.2	-	3	8501	c.8426G>T	c.(8425-8427)gGg>gTg	p.G2809V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2809					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATAAGAATACCCATCTTGCCC	0.488																																						dbGAP											0													95.0	98.0	97.0					1																	152185679		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8426G>T	1.37:g.152185679C>A	ENSP00000357791:p.Gly2809Val		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.G2809V	ENST00000368801.2	37	c.8426	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	5.561	0.288363	0.10513	.	.	ENSG00000197915	ENST00000368801	T	0.02552	4.25	4.34	-4.17	0.03857	.	.	.	.	.	T	0.00637	0.0021	N	0.19112	0.55	0.09310	N	0.999998	P	0.42620	0.785	B	0.38500	0.275	T	0.47341	-0.9125	9	0.49607	T	0.09	.	6.073	0.19899	0.1465:0.2369:0.0:0.6166	.	2809	Q86YZ3	HORN_HUMAN	V	2809	ENSP00000357791:G2809V	ENSP00000357791:G2809V	G	-	2	0	HRNR	150452303	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.061000	0.11693	-0.749000	0.04747	-0.258000	0.10820	GGG	HRNR	-	NULL	ENSG00000197915		0.488	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	127	0.00	0	C	XM_373868		152185679	152185679	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	180	10.45	21	SNP	0.000	A
HRNR	388697	genome.wustl.edu	37	1	152185679	152185679	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr1:152185679C>A	ENST00000368801.2	-	3	8501	c.8426G>T	c.(8425-8427)gGg>gTg	p.G2809V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2809					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATAAGAATACCCATCTTGCCC	0.488																																						dbGAP											0													95.0	98.0	97.0					1																	152185679		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8426G>T	1.37:g.152185679C>A	ENSP00000357791:p.Gly2809Val		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.G2809V	ENST00000368801.2	37	c.8426	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	5.561	0.288363	0.10513	.	.	ENSG00000197915	ENST00000368801	T	0.02552	4.25	4.34	-4.17	0.03857	.	.	.	.	.	T	0.00637	0.0021	N	0.19112	0.55	0.09310	N	0.999998	P	0.42620	0.785	B	0.38500	0.275	T	0.47341	-0.9125	9	0.49607	T	0.09	.	6.073	0.19899	0.1465:0.2369:0.0:0.6166	.	2809	Q86YZ3	HORN_HUMAN	V	2809	ENSP00000357791:G2809V	ENSP00000357791:G2809V	G	-	2	0	HRNR	150452303	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.061000	0.11693	-0.749000	0.04747	-0.258000	0.10820	GGG	HRNR	-	NULL	ENSG00000197915		0.488	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	111	0.00	0	C	XM_373868		152185679	152185679	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	180	10.45	21	SNP	0.000	A
ILVBL	10994	genome.wustl.edu	37	19	15227121	15227121	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr19:15227121G>A	ENST00000263383.3	-	12	1452	c.1313C>T	c.(1312-1314)gCg>gTg	p.A438V	ILVBL_ENST00000531635.1_5'Flank|ILVBL_ENST00000534378.1_Missense_Mutation_p.A331V	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	438						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACAGGCATCGCTGCCTTCTC	0.637																																						dbGAP											0													104.0	92.0	96.0					19																	15227121		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1313C>T	19.37:g.15227121G>A	ENSP00000263383:p.Ala438Val		O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom	p.A438V	ENST00000263383.3	37	c.1313	CCDS12325.1	19	.	.	.	.	.	.	.	.	.	.	G	7.615	0.675584	0.14841	.	.	ENSG00000105135	ENST00000263383	T	0.34472	1.36	5.12	1.72	0.24424	.	0.631105	0.16201	N	0.224921	T	0.20088	0.0483	N	0.19112	0.55	0.09310	N	1	B	0.21309	0.054	B	0.15870	0.014	T	0.17623	-1.0363	10	0.30078	T	0.28	-2.6036	7.019	0.24904	0.3206:0.0:0.6794:0.0	.	438	A1L0T0	ILVBL_HUMAN	V	438	ENSP00000263383:A438V	ENSP00000263383:A438V	A	-	2	0	ILVBL	15088121	0.000000	0.05858	0.000000	0.03702	0.435000	0.31806	0.233000	0.17911	0.075000	0.16796	0.561000	0.74099	GCG	ILVBL	-	NULL	ENSG00000105135		0.637	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILVBL	HGNC	protein_coding	OTTHUMT00000385439.1	58	0.00	0	G	NM_006844		15227121	15227121	-1	no_errors	ENST00000263383	ensembl	human	known	69_37n	missense	110	13.39	17	SNP	0.000	A
ILVBL	10994	genome.wustl.edu	37	19	15227121	15227121	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr19:15227121G>A	ENST00000263383.3	-	12	1452	c.1313C>T	c.(1312-1314)gCg>gTg	p.A438V	ILVBL_ENST00000531635.1_5'Flank|ILVBL_ENST00000534378.1_Missense_Mutation_p.A331V	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	438						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACAGGCATCGCTGCCTTCTC	0.637																																						dbGAP											0													104.0	92.0	96.0					19																	15227121		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1313C>T	19.37:g.15227121G>A	ENSP00000263383:p.Ala438Val		O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom	p.A438V	ENST00000263383.3	37	c.1313	CCDS12325.1	19	.	.	.	.	.	.	.	.	.	.	G	7.615	0.675584	0.14841	.	.	ENSG00000105135	ENST00000263383	T	0.34472	1.36	5.12	1.72	0.24424	.	0.631105	0.16201	N	0.224921	T	0.20088	0.0483	N	0.19112	0.55	0.09310	N	1	B	0.21309	0.054	B	0.15870	0.014	T	0.17623	-1.0363	10	0.30078	T	0.28	-2.6036	7.019	0.24904	0.3206:0.0:0.6794:0.0	.	438	A1L0T0	ILVBL_HUMAN	V	438	ENSP00000263383:A438V	ENSP00000263383:A438V	A	-	2	0	ILVBL	15088121	0.000000	0.05858	0.000000	0.03702	0.435000	0.31806	0.233000	0.17911	0.075000	0.16796	0.561000	0.74099	GCG	ILVBL	-	NULL	ENSG00000105135		0.637	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILVBL	HGNC	protein_coding	OTTHUMT00000385439.1	80	0.00	0	G	NM_006844		15227121	15227121	-1	no_errors	ENST00000263383	ensembl	human	known	69_37n	missense	110	13.39	17	SNP	0.000	A
KCNQ5	56479	genome.wustl.edu	37	6	73787062	73787062	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr6:73787062G>A	ENST00000370398.1	+	4	743	c.634G>A	c.(634-636)Gct>Act	p.A212T	KCNQ5_ENST00000370392.1_Missense_Mutation_p.A212T|KCNQ5_ENST00000342056.2_Missense_Mutation_p.A212T|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A212T|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A212T|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A212T|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A212T|KCNQ5_ENST00000414165.2_Missense_Mutation_p.A212T	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	212					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TGTTCTTATCGCTTCAATAGC	0.408																																					GBM(142;1375 1859 14391 23261 44706)	dbGAP											0													97.0	90.0	92.0					6																	73787062		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.634G>A	6.37:g.73787062G>A	ENSP00000359425:p.Ala212Thr		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.A212T	ENST00000370398.1	37	c.634	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.688105	0.96784	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4	5.95	5.95	0.96441	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	M	0.83692	2.655	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.81914	0.892;0.973;0.981;0.982;0.995;0.981	D	0.99081	1.0837	10	0.87932	D	0	.	20.3812	0.98933	0.0:0.0:1.0:0.0	.	212;212;212;212;212;212	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	T	212	ENSP00000345055:A212T;ENSP00000347326:A212T;ENSP00000359425:A212T;ENSP00000359419:A212T;ENSP00000385501:A212T;ENSP00000347853:A212T;ENSP00000384453:A212T;ENSP00000409861:A212T	ENSP00000345055:A212T	A	+	1	0	KCNQ5	73843783	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.869000	0.99810	2.821000	0.97095	0.650000	0.86243	GCT	KCNQ5	-	pfam_Ion_trans_dom	ENSG00000185760		0.408	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	137	0.00	0	G	NM_019842		73787062	73787062	+1	no_errors	ENST00000402622	ensembl	human	known	69_37n	missense	119	16.20	23	SNP	1.000	A
KCNQ5	56479	genome.wustl.edu	37	6	73787062	73787062	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr6:73787062G>A	ENST00000370398.1	+	4	743	c.634G>A	c.(634-636)Gct>Act	p.A212T	KCNQ5_ENST00000370392.1_Missense_Mutation_p.A212T|KCNQ5_ENST00000342056.2_Missense_Mutation_p.A212T|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A212T|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A212T|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A212T|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A212T|KCNQ5_ENST00000414165.2_Missense_Mutation_p.A212T	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	212					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TGTTCTTATCGCTTCAATAGC	0.408																																					GBM(142;1375 1859 14391 23261 44706)	dbGAP											0													97.0	90.0	92.0					6																	73787062		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.634G>A	6.37:g.73787062G>A	ENSP00000359425:p.Ala212Thr		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.A212T	ENST00000370398.1	37	c.634	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.688105	0.96784	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4	5.95	5.95	0.96441	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	M	0.83692	2.655	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.81914	0.892;0.973;0.981;0.982;0.995;0.981	D	0.99081	1.0837	10	0.87932	D	0	.	20.3812	0.98933	0.0:0.0:1.0:0.0	.	212;212;212;212;212;212	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	T	212	ENSP00000345055:A212T;ENSP00000347326:A212T;ENSP00000359425:A212T;ENSP00000359419:A212T;ENSP00000385501:A212T;ENSP00000347853:A212T;ENSP00000384453:A212T;ENSP00000409861:A212T	ENSP00000345055:A212T	A	+	1	0	KCNQ5	73843783	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.869000	0.99810	2.821000	0.97095	0.650000	0.86243	GCT	KCNQ5	-	pfam_Ion_trans_dom	ENSG00000185760		0.408	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	151	0.00	0	G	NM_019842		73787062	73787062	+1	no_errors	ENST00000402622	ensembl	human	known	69_37n	missense	119	16.20	23	SNP	1.000	A
KDM6A	7403	genome.wustl.edu	37	X	44894229	44894232	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	AAGT	AAGT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chrX:44894229_44894232delAAGT	ENST00000377967.4	+	7	659_660	c.618_619delAAGT	c.(616-621)gaaagt>gagt	p.S207fs	KDM6A_ENST00000543216.1_Splice_Site_p.S207fs|KDM6A_ENST00000382899.4_Splice_Site_p.S207fs|KDM6A_ENST00000536777.1_Splice_Site_p.S207fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	207	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(12)|p.0?(6)|p.?(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCAATGCTGAAAGTAAGTATTATT	0.333			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	dbGAP		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	20	No detectable mRNA/protein(12)|Whole gene deletion(6)|Unknown(2)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(4)|breast(2)|pancreas(2)|soft_tissue(1)																																								-	-	-	SO:0001630	splice_region_variant	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.619+1AAGT>-	X.37:g.44894233_44894236delAAGT			Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E206fs	ENST00000377967.4	37	c.618_619	CCDS14265.1	X																																																																																			KDM6A	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000147050		0.333	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	537	0.00	0	AAGT	NM_021140	Frame_Shift_Del	44894229	44894232	+1	no_errors	ENST00000382899	ensembl	human	known	69_37n	frame_shift_del	449	10.87	55	DEL	1.000:1.000	-
KDM6A	7403	genome.wustl.edu	37	X	44894229	44894232	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	AAGT	AAGT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chrX:44894229_44894232delAAGT	ENST00000377967.4	+	7	659_660	c.618_619delAAGT	c.(616-621)gaaagt>gagt	p.S207fs	KDM6A_ENST00000543216.1_Splice_Site_p.S207fs|KDM6A_ENST00000382899.4_Splice_Site_p.S207fs|KDM6A_ENST00000536777.1_Splice_Site_p.S207fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	207	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(12)|p.0?(6)|p.?(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCAATGCTGAAAGTAAGTATTATT	0.333			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	dbGAP		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	20	No detectable mRNA/protein(12)|Whole gene deletion(6)|Unknown(2)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(4)|breast(2)|pancreas(2)|soft_tissue(1)																																								-	-	-	SO:0001630	splice_region_variant	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.619+1AAGT>-	X.37:g.44894233_44894236delAAGT			Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E206fs	ENST00000377967.4	37	c.618_619	CCDS14265.1	X																																																																																			KDM6A	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000147050		0.333	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	356	0.00	0	AAGT	NM_021140	Frame_Shift_Del	44894229	44894232	+1	no_errors	ENST00000382899	ensembl	human	known	69_37n	frame_shift_del	449	10.87	55	DEL	1.000:1.000	-
L3MBTL2	83746	genome.wustl.edu	37	22	41605850	41605850	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr22:41605850C>T	ENST00000216237.5	+	2	333	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	RP4-756G23.5_ENST00000451176.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000441316.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	59					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAATGAGGATCGGGAAGCAGG	0.557																																						dbGAP											0													138.0	134.0	135.0					22																	41605850		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.175C>T	22.37:g.41605850C>T	ENSP00000216237:p.Arg59Trp		Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.R59W	ENST00000216237.5	37	c.175	CCDS14011.1	22	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994157	0.74703	.	.	ENSG00000100395	ENST00000216237;ENST00000449635	T	0.20200	2.09	5.36	4.33	0.51752	.	0.724469	0.13339	N	0.395265	T	0.31451	0.0797	L	0.27053	0.805	0.36504	D	0.869152	D	0.89917	1.0	D	0.75020	0.985	T	0.24693	-1.0153	10	0.72032	D	0.01	.	9.5667	0.39402	0.3117:0.5556:0.1327:0.0	.	59	Q969R5	LMBL2_HUMAN	W	59;51	ENSP00000216237:R59W	ENSP00000216237:R59W	R	+	1	2	L3MBTL2	39935796	0.974000	0.33945	0.997000	0.53966	0.993000	0.82548	2.221000	0.42917	1.192000	0.43071	0.650000	0.86243	CGG	L3MBTL2	-	NULL	ENSG00000100395		0.557	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL2	HGNC	protein_coding	OTTHUMT00000320613.1	127	0.00	0	C	NM_031488		41605850	41605850	+1	no_errors	ENST00000216237	ensembl	human	known	69_37n	missense	188	12.96	28	SNP	0.973	T
L3MBTL2	83746	genome.wustl.edu	37	22	41605850	41605850	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr22:41605850C>T	ENST00000216237.5	+	2	333	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	RP4-756G23.5_ENST00000451176.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000441316.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	59					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAATGAGGATCGGGAAGCAGG	0.557																																						dbGAP											0													138.0	134.0	135.0					22																	41605850		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.175C>T	22.37:g.41605850C>T	ENSP00000216237:p.Arg59Trp		Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.R59W	ENST00000216237.5	37	c.175	CCDS14011.1	22	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994157	0.74703	.	.	ENSG00000100395	ENST00000216237;ENST00000449635	T	0.20200	2.09	5.36	4.33	0.51752	.	0.724469	0.13339	N	0.395265	T	0.31451	0.0797	L	0.27053	0.805	0.36504	D	0.869152	D	0.89917	1.0	D	0.75020	0.985	T	0.24693	-1.0153	10	0.72032	D	0.01	.	9.5667	0.39402	0.3117:0.5556:0.1327:0.0	.	59	Q969R5	LMBL2_HUMAN	W	59;51	ENSP00000216237:R59W	ENSP00000216237:R59W	R	+	1	2	L3MBTL2	39935796	0.974000	0.33945	0.997000	0.53966	0.993000	0.82548	2.221000	0.42917	1.192000	0.43071	0.650000	0.86243	CGG	L3MBTL2	-	NULL	ENSG00000100395		0.557	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL2	HGNC	protein_coding	OTTHUMT00000320613.1	153	0.00	0	C	NM_031488		41605850	41605850	+1	no_errors	ENST00000216237	ensembl	human	known	69_37n	missense	188	12.96	28	SNP	0.973	T
LAMB4	22798	genome.wustl.edu	37	7	107688451	107688451	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr7:107688451C>T	ENST00000388781.3	-	28	4311	c.4228G>A	c.(4228-4230)Ggc>Agc	p.G1410S	LAMB4_ENST00000205386.4_Missense_Mutation_p.G1410S|LAMB4_ENST00000388780.3_Missense_Mutation_p.G1410S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1410	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTCAGGGAGCCGTGACAGCCG	0.557																																						dbGAP											0													68.0	73.0	71.0					7																	107688451		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4228G>A	7.37:g.107688451C>T	ENSP00000373433:p.Gly1410Ser		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.G1410S	ENST00000388781.3	37	c.4228	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344881	0.41498	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.61627	0.19;0.19;0.09;0.24	4.41	3.54	0.40534	.	0.300238	0.23448	N	0.048063	T	0.54631	0.1870	L	0.36672	1.1	0.43803	D	0.99635	P;B	0.46457	0.878;0.179	P;B	0.48815	0.591;0.025	T	0.56263	-0.8008	10	0.52906	T	0.07	.	12.2742	0.54724	0.0:0.9162:0.0:0.0838	.	1410;1410	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	S	1410;1410;436;1410	ENSP00000205386:G1410S;ENSP00000373433:G1410S;ENSP00000416562:G436S;ENSP00000373432:G1410S	ENSP00000205386:G1410S	G	-	1	0	LAMB4	107475687	0.406000	0.25344	0.010000	0.14722	0.016000	0.09150	0.905000	0.28504	1.083000	0.41159	-0.216000	0.12614	GGC	LAMB4	-	NULL	ENSG00000091128		0.557	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	151	0.65	1	C	XM_209857		107688451	107688451	-1	no_errors	ENST00000205386	ensembl	human	known	69_37n	missense	140	16.96	29	SNP	0.214	T
LAMB4	22798	genome.wustl.edu	37	7	107688451	107688451	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr7:107688451C>T	ENST00000388781.3	-	28	4311	c.4228G>A	c.(4228-4230)Ggc>Agc	p.G1410S	LAMB4_ENST00000205386.4_Missense_Mutation_p.G1410S|LAMB4_ENST00000388780.3_Missense_Mutation_p.G1410S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1410	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTCAGGGAGCCGTGACAGCCG	0.557																																						dbGAP											0													68.0	73.0	71.0					7																	107688451		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4228G>A	7.37:g.107688451C>T	ENSP00000373433:p.Gly1410Ser		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.G1410S	ENST00000388781.3	37	c.4228	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344881	0.41498	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.61627	0.19;0.19;0.09;0.24	4.41	3.54	0.40534	.	0.300238	0.23448	N	0.048063	T	0.54631	0.1870	L	0.36672	1.1	0.43803	D	0.99635	P;B	0.46457	0.878;0.179	P;B	0.48815	0.591;0.025	T	0.56263	-0.8008	10	0.52906	T	0.07	.	12.2742	0.54724	0.0:0.9162:0.0:0.0838	.	1410;1410	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	S	1410;1410;436;1410	ENSP00000205386:G1410S;ENSP00000373433:G1410S;ENSP00000416562:G436S;ENSP00000373432:G1410S	ENSP00000205386:G1410S	G	-	1	0	LAMB4	107475687	0.406000	0.25344	0.010000	0.14722	0.016000	0.09150	0.905000	0.28504	1.083000	0.41159	-0.216000	0.12614	GGC	LAMB4	-	NULL	ENSG00000091128		0.557	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	165	0.00	0	C	XM_209857		107688451	107688451	-1	no_errors	ENST00000205386	ensembl	human	known	69_37n	missense	140	16.96	29	SNP	0.214	T
LTBP1	4052	genome.wustl.edu	37	2	33500981	33500981	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr2:33500981C>G	ENST00000404816.2	+	18	3336	c.2983C>G	c.(2983-2985)Cgt>Ggt	p.R995G	LTBP1_ENST00000418533.2_Missense_Mutation_p.R669G|LTBP1_ENST00000402934.1_Missense_Mutation_p.R616G|LTBP1_ENST00000407925.1_Missense_Mutation_p.R669G|LTBP1_ENST00000390003.4_Missense_Mutation_p.R670G|LTBP1_ENST00000354476.3_Missense_Mutation_p.R996G|LTBP1_ENST00000404525.1_Missense_Mutation_p.R616G			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	995	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCAGAGAGGCCGTTGTGAGGG	0.582																																						dbGAP											0													116.0	102.0	107.0					2																	33500981		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2983C>G	2.37:g.33500981C>G	ENSP00000386043:p.Arg995Gly		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.R996G	ENST00000404816.2	37	c.2986	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	C	5.463	0.270450	0.10349	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.92199	-2.29;-2.29;-2.29;-2.29;-2.99;-2.99;-2.29	4.73	2.84	0.33178	EGF-like calcium-binding (2);	.	.	.	.	D	0.86243	0.5886	L	0.37750	1.13	0.19575	N	0.999968	B;B;B;B;B;B	0.17038	0.02;0.005;0.001;0.005;0.005;0.016	B;B;B;B;B;B	0.25614	0.062;0.007;0.022;0.022;0.022;0.037	T	0.74225	-0.3734	9	0.35671	T	0.21	.	5.263	0.15584	0.1285:0.5551:0.2367:0.0797	.	995;669;616;669;670;996	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	G	995;996;670;669;616;616;669	ENSP00000386043:R995G;ENSP00000346467:R996G;ENSP00000374653:R670G;ENSP00000393057:R669G;ENSP00000384373:R616G;ENSP00000385359:R616G;ENSP00000384091:R669G	ENSP00000346467:R996G	R	+	1	0	LTBP1	33354485	0.028000	0.19301	0.074000	0.20217	0.436000	0.31835	1.300000	0.33436	0.477000	0.27464	0.655000	0.94253	CGT	LTBP1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000049323		0.582	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	140	0.00	0	C	NM_206943		33500981	33500981	+1	no_errors	ENST00000354476	ensembl	human	known	69_37n	missense	204	23.60	63	SNP	0.116	G
LTBP1	4052	genome.wustl.edu	37	2	33500981	33500981	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr2:33500981C>G	ENST00000404816.2	+	18	3336	c.2983C>G	c.(2983-2985)Cgt>Ggt	p.R995G	LTBP1_ENST00000418533.2_Missense_Mutation_p.R669G|LTBP1_ENST00000402934.1_Missense_Mutation_p.R616G|LTBP1_ENST00000407925.1_Missense_Mutation_p.R669G|LTBP1_ENST00000390003.4_Missense_Mutation_p.R670G|LTBP1_ENST00000354476.3_Missense_Mutation_p.R996G|LTBP1_ENST00000404525.1_Missense_Mutation_p.R616G			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	995	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCAGAGAGGCCGTTGTGAGGG	0.582																																						dbGAP											0													116.0	102.0	107.0					2																	33500981		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2983C>G	2.37:g.33500981C>G	ENSP00000386043:p.Arg995Gly		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.R996G	ENST00000404816.2	37	c.2986	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	C	5.463	0.270450	0.10349	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.92199	-2.29;-2.29;-2.29;-2.29;-2.99;-2.99;-2.29	4.73	2.84	0.33178	EGF-like calcium-binding (2);	.	.	.	.	D	0.86243	0.5886	L	0.37750	1.13	0.19575	N	0.999968	B;B;B;B;B;B	0.17038	0.02;0.005;0.001;0.005;0.005;0.016	B;B;B;B;B;B	0.25614	0.062;0.007;0.022;0.022;0.022;0.037	T	0.74225	-0.3734	9	0.35671	T	0.21	.	5.263	0.15584	0.1285:0.5551:0.2367:0.0797	.	995;669;616;669;670;996	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	G	995;996;670;669;616;616;669	ENSP00000386043:R995G;ENSP00000346467:R996G;ENSP00000374653:R670G;ENSP00000393057:R669G;ENSP00000384373:R616G;ENSP00000385359:R616G;ENSP00000384091:R669G	ENSP00000346467:R996G	R	+	1	0	LTBP1	33354485	0.028000	0.19301	0.074000	0.20217	0.436000	0.31835	1.300000	0.33436	0.477000	0.27464	0.655000	0.94253	CGT	LTBP1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000049323		0.582	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	193	0.00	0	C	NM_206943		33500981	33500981	+1	no_errors	ENST00000354476	ensembl	human	known	69_37n	missense	204	23.60	63	SNP	0.116	G
MST1L	11223	genome.wustl.edu	37	1	17085795	17085795	+	RNA	SNP	G	G	T	rs1057379	byFrequency	TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr1:17085795G>T	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.I332I(2)|p.I342I(2)									TACAACGCCGGATCTGGTAGC	0.687																																						dbGAP											4	Substitution - coding silent(4)	kidney(2)|endometrium(2)																																								-	-	-			0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085795G>T			B7WPB1|Q13209	Silent	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.I342	ENST00000455405.2	37	c.1026		1																																																																																			MST1P9	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000186715		0.687	MST1L-002	KNOWN	basic	processed_transcript	MST1P9	HGNC	pseudogene	OTTHUMT00000400328.1	42	0.00	0	G	NM_001271733		17085795	17085795	-1	no_errors	ENST00000334998	ensembl	human	known	69_37n	silent	53	10.17	6	SNP	1.000	T
MUC5AC	4586	genome.wustl.edu	37	11	1155537	1155537	+	Silent	SNP	G	G	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr11:1155537G>A	ENST00000356191.2	+	4	225	c.225G>A	c.(223-225)gcG>gcA	p.A75A				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	75					cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CCAACCCGGCGCACAACGGGC	0.672																																						dbGAP											0													21.0	21.0	21.0					11																	1155537		875	1988	2863	-	-	-	SO:0001819	synonymous_variant	0			AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.225G>A	11.37:g.1155537G>A			O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out	p.A75	ENST00000356191.2	37	c.225		11																																																																																			MUC5AC	-	smart_VWF_type-D	ENSG00000215182		0.672	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	MUC5AC	HGNC	protein_coding		11	0.00	0	G	XM_001130382		1155537	1155537	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000534821	ensembl	human	known	69_37n	silent	15	36.00	9	SNP	0.000	A
MUC5AC	4586	genome.wustl.edu	37	11	1155537	1155537	+	Silent	SNP	G	G	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr11:1155537G>A	ENST00000356191.2	+	4	225	c.225G>A	c.(223-225)gcG>gcA	p.A75A				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	75					cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CCAACCCGGCGCACAACGGGC	0.672																																						dbGAP											0													21.0	21.0	21.0					11																	1155537		875	1988	2863	-	-	-	SO:0001819	synonymous_variant	0			AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.225G>A	11.37:g.1155537G>A			O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out	p.A75	ENST00000356191.2	37	c.225		11																																																																																			MUC5AC	-	smart_VWF_type-D	ENSG00000215182		0.672	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	MUC5AC	HGNC	protein_coding		25	0.00	0	G	XM_001130382		1155537	1155537	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000534821	ensembl	human	known	69_37n	silent	15	36.00	9	SNP	0.000	A
MYL12A	10627	genome.wustl.edu	37	18	3253901	3253901	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr18:3253901G>A	ENST00000217652.3	+	3	591	c.196G>A	c.(196-198)Gat>Aat	p.D66N	MYL12A_ENST00000580887.1_Missense_Mutation_p.D72N|MYL12A_ENST00000578611.1_Missense_Mutation_p.D66N|MYL12A_ENST00000536605.1_Missense_Mutation_p.D66N|RP13-270P17.1_ENST00000581905.1_RNA|MYL12A_ENST00000579226.1_Missense_Mutation_p.D66N|RP13-270P17.1_ENST00000578800.1_RNA	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory, non-sarcomeric	66					platelet aggregation (GO:0070527)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)	extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			NS(1)|kidney(2)|large_intestine(2)	5						GAATCCAACTGATGAGTATCT	0.353																																						dbGAP											0													72.0	70.0	71.0					18																	3253901		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54304	CCDS11830.1	18p11.31	2013-01-10	2002-08-29		ENSG00000101608	ENSG00000101608		"""Myosins / Light chain"", ""EF-hand domain containing"""	16701	protein-coding gene	gene with protein product	"""myosin regulatory light chain 3"""		"""myosin, light polypeptide, regulatory, non-sarcomeric (20kD)"""			2216787	Standard	NM_006471		Approved	MLCB, MYL2B, MRLC3, MRCL3	uc002klr.3	P19105	OTTHUMG00000131509	ENST00000217652.3:c.196G>A	18.37:g.3253901G>A	ENSP00000217652:p.Asp66Asn		Q53X45	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D66N	ENST00000217652.3	37	c.196	CCDS11830.1	18	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955895	0.53293	.	.	ENSG00000101608	ENST00000217652;ENST00000536605	T;T	0.79940	-1.32;-1.32	5.42	5.42	0.78866	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78168	0.4241	L	0.58583	1.82	0.80722	D	1	B;B	0.16166	0.016;0.016	B;B	0.19666	0.026;0.026	T	0.72114	-0.4388	10	0.13108	T	0.6	.	19.4095	0.94665	0.0:0.0:1.0:0.0	.	66;66	Q53X45;P19105	.;ML12A_HUMAN	N	66	ENSP00000217652:D66N;ENSP00000441231:D66N	ENSP00000217652:D66N	D	+	1	0	MYL12A	3243901	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	9.544000	0.98092	2.817000	0.96982	0.563000	0.77884	GAT	MYL12A	-	NULL	ENSG00000101608		0.353	MYL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL12A	HGNC	protein_coding	OTTHUMT00000254364.2	98	0.00	0	G	NM_006471		3253901	3253901	+1	no_errors	ENST00000217652	ensembl	human	known	69_37n	missense	118	14.39	20	SNP	1.000	A
MYL12A	10627	genome.wustl.edu	37	18	3253901	3253901	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr18:3253901G>A	ENST00000217652.3	+	3	591	c.196G>A	c.(196-198)Gat>Aat	p.D66N	MYL12A_ENST00000580887.1_Missense_Mutation_p.D72N|MYL12A_ENST00000578611.1_Missense_Mutation_p.D66N|MYL12A_ENST00000536605.1_Missense_Mutation_p.D66N|RP13-270P17.1_ENST00000581905.1_RNA|MYL12A_ENST00000579226.1_Missense_Mutation_p.D66N|RP13-270P17.1_ENST00000578800.1_RNA	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory, non-sarcomeric	66					platelet aggregation (GO:0070527)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)	extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			NS(1)|kidney(2)|large_intestine(2)	5						GAATCCAACTGATGAGTATCT	0.353																																						dbGAP											0													72.0	70.0	71.0					18																	3253901		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54304	CCDS11830.1	18p11.31	2013-01-10	2002-08-29		ENSG00000101608	ENSG00000101608		"""Myosins / Light chain"", ""EF-hand domain containing"""	16701	protein-coding gene	gene with protein product	"""myosin regulatory light chain 3"""		"""myosin, light polypeptide, regulatory, non-sarcomeric (20kD)"""			2216787	Standard	NM_006471		Approved	MLCB, MYL2B, MRLC3, MRCL3	uc002klr.3	P19105	OTTHUMG00000131509	ENST00000217652.3:c.196G>A	18.37:g.3253901G>A	ENSP00000217652:p.Asp66Asn		Q53X45	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D66N	ENST00000217652.3	37	c.196	CCDS11830.1	18	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955895	0.53293	.	.	ENSG00000101608	ENST00000217652;ENST00000536605	T;T	0.79940	-1.32;-1.32	5.42	5.42	0.78866	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78168	0.4241	L	0.58583	1.82	0.80722	D	1	B;B	0.16166	0.016;0.016	B;B	0.19666	0.026;0.026	T	0.72114	-0.4388	10	0.13108	T	0.6	.	19.4095	0.94665	0.0:0.0:1.0:0.0	.	66;66	Q53X45;P19105	.;ML12A_HUMAN	N	66	ENSP00000217652:D66N;ENSP00000441231:D66N	ENSP00000217652:D66N	D	+	1	0	MYL12A	3243901	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	9.544000	0.98092	2.817000	0.96982	0.563000	0.77884	GAT	MYL12A	-	NULL	ENSG00000101608		0.353	MYL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL12A	HGNC	protein_coding	OTTHUMT00000254364.2	96	0.00	0	G	NM_006471		3253901	3253901	+1	no_errors	ENST00000217652	ensembl	human	known	69_37n	missense	118	14.39	20	SNP	1.000	A
MYL12A	10627	genome.wustl.edu	37	18	3254033	3254033	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr18:3254033G>C	ENST00000217652.3	+	3	723	c.328G>C	c.(328-330)Gat>Cat	p.D110H	MYL12A_ENST00000580887.1_Missense_Mutation_p.D116H|MYL12A_ENST00000578611.1_Missense_Mutation_p.D110H|MYL12A_ENST00000536605.1_Missense_Mutation_p.D110H|RP13-270P17.1_ENST00000581905.1_RNA|MYL12A_ENST00000579226.1_Missense_Mutation_p.D110H|RP13-270P17.1_ENST00000578800.1_RNA	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory, non-sarcomeric	110	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				platelet aggregation (GO:0070527)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)	extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			NS(1)|kidney(2)|large_intestine(2)	5						TGCTTGCTTTGATGAAGAAGC	0.343																																						dbGAP											0													80.0	74.0	76.0					18																	3254033		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54304	CCDS11830.1	18p11.31	2013-01-10	2002-08-29		ENSG00000101608	ENSG00000101608		"""Myosins / Light chain"", ""EF-hand domain containing"""	16701	protein-coding gene	gene with protein product	"""myosin regulatory light chain 3"""		"""myosin, light polypeptide, regulatory, non-sarcomeric (20kD)"""			2216787	Standard	NM_006471		Approved	MLCB, MYL2B, MRLC3, MRCL3	uc002klr.3	P19105	OTTHUMG00000131509	ENST00000217652.3:c.328G>C	18.37:g.3254033G>C	ENSP00000217652:p.Asp110His		Q53X45	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D110H	ENST00000217652.3	37	c.328	CCDS11830.1	18	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737847	0.89573	.	.	ENSG00000101608	ENST00000217652;ENST00000536605	D;D	0.90004	-2.6;-2.6	5.42	5.42	0.78866	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.97399	0.9149	H	0.99454	4.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.98720	1.0708	10	0.87932	D	0	.	19.4095	0.94665	0.0:0.0:1.0:0.0	.	110;110	Q53X45;P19105	.;ML12A_HUMAN	H	110	ENSP00000217652:D110H;ENSP00000441231:D110H	ENSP00000217652:D110H	D	+	1	0	MYL12A	3244033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.817000	0.96982	0.563000	0.77884	GAT	MYL12A	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000101608		0.343	MYL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL12A	HGNC	protein_coding	OTTHUMT00000254364.2	110	0.00	0	G	NM_006471		3254033	3254033	+1	no_errors	ENST00000217652	ensembl	human	known	69_37n	missense	155	15.76	29	SNP	1.000	C
MYL12A	10627	genome.wustl.edu	37	18	3254033	3254033	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr18:3254033G>C	ENST00000217652.3	+	3	723	c.328G>C	c.(328-330)Gat>Cat	p.D110H	MYL12A_ENST00000580887.1_Missense_Mutation_p.D116H|MYL12A_ENST00000578611.1_Missense_Mutation_p.D110H|MYL12A_ENST00000536605.1_Missense_Mutation_p.D110H|RP13-270P17.1_ENST00000581905.1_RNA|MYL12A_ENST00000579226.1_Missense_Mutation_p.D110H|RP13-270P17.1_ENST00000578800.1_RNA	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory, non-sarcomeric	110	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				platelet aggregation (GO:0070527)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)	extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			NS(1)|kidney(2)|large_intestine(2)	5						TGCTTGCTTTGATGAAGAAGC	0.343																																						dbGAP											0													80.0	74.0	76.0					18																	3254033		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54304	CCDS11830.1	18p11.31	2013-01-10	2002-08-29		ENSG00000101608	ENSG00000101608		"""Myosins / Light chain"", ""EF-hand domain containing"""	16701	protein-coding gene	gene with protein product	"""myosin regulatory light chain 3"""		"""myosin, light polypeptide, regulatory, non-sarcomeric (20kD)"""			2216787	Standard	NM_006471		Approved	MLCB, MYL2B, MRLC3, MRCL3	uc002klr.3	P19105	OTTHUMG00000131509	ENST00000217652.3:c.328G>C	18.37:g.3254033G>C	ENSP00000217652:p.Asp110His		Q53X45	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D110H	ENST00000217652.3	37	c.328	CCDS11830.1	18	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737847	0.89573	.	.	ENSG00000101608	ENST00000217652;ENST00000536605	D;D	0.90004	-2.6;-2.6	5.42	5.42	0.78866	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.97399	0.9149	H	0.99454	4.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.98720	1.0708	10	0.87932	D	0	.	19.4095	0.94665	0.0:0.0:1.0:0.0	.	110;110	Q53X45;P19105	.;ML12A_HUMAN	H	110	ENSP00000217652:D110H;ENSP00000441231:D110H	ENSP00000217652:D110H	D	+	1	0	MYL12A	3244033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.817000	0.96982	0.563000	0.77884	GAT	MYL12A	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000101608		0.343	MYL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL12A	HGNC	protein_coding	OTTHUMT00000254364.2	138	0.00	0	G	NM_006471		3254033	3254033	+1	no_errors	ENST00000217652	ensembl	human	known	69_37n	missense	155	15.76	29	SNP	1.000	C
NDUFA1	4694	genome.wustl.edu	37	X	119005892	119005892	+	Silent	SNP	C	C	T			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chrX:119005892C>T	ENST00000371437.4	+	1	443	c.18C>T	c.(16-18)ctC>ctT	p.L6L	RNF113A_ENST00000371442.2_5'Flank	NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	6					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5						TCGAGATTCTCCCCGGACTCT	0.582																																						dbGAP											0													184.0	149.0	161.0					X																	119005892		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14590.1	Xq24	2011-07-04	2002-08-29		ENSG00000125356	ENSG00000125356		"""Mitochondrial respiratory chain complex / Complex I"""	7683	protein-coding gene	gene with protein product	"""NADH:ubiquinone oxidoreductase (complex 1)"", ""type I dehydrogenase"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"", ""complex I MWFE subunit"""	300078	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"""			8938439	Standard	NM_004541		Approved	MWFE, CI-MWFE	uc004esc.4	O15239	OTTHUMG00000022287	ENST00000371437.4:c.18C>T	X.37:g.119005892C>T				Silent	SNP	pirsf_NADH_Ub_cplx-1_asu_su-1	p.L6	ENST00000371437.4	37	c.18	CCDS14590.1	X																																																																																			NDUFA1	-	pirsf_NADH_Ub_cplx-1_asu_su-1	ENSG00000125356		0.582	NDUFA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA1	HGNC	protein_coding	OTTHUMT00000058080.1	152	0.00	0	C	NM_004541		119005892	119005892	+1	no_errors	ENST00000371437	ensembl	human	known	69_37n	silent	213	13.25	33	SNP	0.799	T
NDUFA1	4694	genome.wustl.edu	37	X	119005892	119005892	+	Silent	SNP	C	C	T			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chrX:119005892C>T	ENST00000371437.4	+	1	443	c.18C>T	c.(16-18)ctC>ctT	p.L6L	RNF113A_ENST00000371442.2_5'Flank	NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	6					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5						TCGAGATTCTCCCCGGACTCT	0.582																																						dbGAP											0													184.0	149.0	161.0					X																	119005892		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14590.1	Xq24	2011-07-04	2002-08-29		ENSG00000125356	ENSG00000125356		"""Mitochondrial respiratory chain complex / Complex I"""	7683	protein-coding gene	gene with protein product	"""NADH:ubiquinone oxidoreductase (complex 1)"", ""type I dehydrogenase"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"", ""complex I MWFE subunit"""	300078	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"""			8938439	Standard	NM_004541		Approved	MWFE, CI-MWFE	uc004esc.4	O15239	OTTHUMG00000022287	ENST00000371437.4:c.18C>T	X.37:g.119005892C>T				Silent	SNP	pirsf_NADH_Ub_cplx-1_asu_su-1	p.L6	ENST00000371437.4	37	c.18	CCDS14590.1	X																																																																																			NDUFA1	-	pirsf_NADH_Ub_cplx-1_asu_su-1	ENSG00000125356		0.582	NDUFA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA1	HGNC	protein_coding	OTTHUMT00000058080.1	162	0.00	0	C	NM_004541		119005892	119005892	+1	no_errors	ENST00000371437	ensembl	human	known	69_37n	silent	213	13.25	33	SNP	0.799	T
NUDT7	283927	genome.wustl.edu	37	16	77759477	77759477	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr16:77759477A>G	ENST00000268533.5	+	2	254	c.185A>G	c.(184-186)gAg>gGg	p.E62G	NUDT7_ENST00000437314.3_Missense_Mutation_p.E62G|NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000564085.1_Missense_Mutation_p.E62G|NUDT7_ENST00000568787.1_Missense_Mutation_p.E62G	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	62	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						GTCCGGTCAGAGAAGGTAGGT	0.433																																						dbGAP											0													77.0	77.0	77.0					16																	77759477		1856	4097	5953	-	-	-	SO:0001583	missense	0			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.185A>G	16.37:g.77759477A>G	ENSP00000268533:p.Glu62Gly		B4DLE5|H3BUB8	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.E62G	ENST00000268533.5	37	c.185	CCDS42195.1	16	.	.	.	.	.	.	.	.	.	.	A	10.76	1.441606	0.25900	.	.	ENSG00000140876	ENST00000268533;ENST00000437314	T;T	0.50813	0.73;0.73	5.52	5.52	0.82312	NUDIX hydrolase domain (3);NUDIX hydrolase, NudL, conserved site (1);NUDIX hydrolase domain-like (1);	0.510022	0.19488	N	0.113052	T	0.36220	0.0959	L	0.33339	1.005	0.80722	D	1	B;B	0.30973	0.302;0.17	B;B	0.28011	0.085;0.079	T	0.16070	-1.0415	10	0.30078	T	0.28	-14.0423	12.0429	0.53462	1.0:0.0:0.0:0.0	.	62;62	B4DLE5;P0C024	.;NUDT7_HUMAN	G	62	ENSP00000268533:E62G;ENSP00000387707:E62G	ENSP00000268533:E62G	E	+	2	0	NUDT7	76316978	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	3.392000	0.52537	2.101000	0.63845	0.460000	0.39030	GAG	NUDT7	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000140876		0.433	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT7	HGNC	protein_coding	OTTHUMT00000433873.1	129	0.00	0	A			77759477	77759477	+1	no_errors	ENST00000268533	ensembl	human	known	69_37n	missense	135	15.62	25	SNP	1.000	G
NUDT7	283927	genome.wustl.edu	37	16	77759477	77759477	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr16:77759477A>G	ENST00000268533.5	+	2	254	c.185A>G	c.(184-186)gAg>gGg	p.E62G	NUDT7_ENST00000437314.3_Missense_Mutation_p.E62G|NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000564085.1_Missense_Mutation_p.E62G|NUDT7_ENST00000568787.1_Missense_Mutation_p.E62G	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	62	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						GTCCGGTCAGAGAAGGTAGGT	0.433																																						dbGAP											0													77.0	77.0	77.0					16																	77759477		1856	4097	5953	-	-	-	SO:0001583	missense	0			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.185A>G	16.37:g.77759477A>G	ENSP00000268533:p.Glu62Gly		B4DLE5|H3BUB8	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.E62G	ENST00000268533.5	37	c.185	CCDS42195.1	16	.	.	.	.	.	.	.	.	.	.	A	10.76	1.441606	0.25900	.	.	ENSG00000140876	ENST00000268533;ENST00000437314	T;T	0.50813	0.73;0.73	5.52	5.52	0.82312	NUDIX hydrolase domain (3);NUDIX hydrolase, NudL, conserved site (1);NUDIX hydrolase domain-like (1);	0.510022	0.19488	N	0.113052	T	0.36220	0.0959	L	0.33339	1.005	0.80722	D	1	B;B	0.30973	0.302;0.17	B;B	0.28011	0.085;0.079	T	0.16070	-1.0415	10	0.30078	T	0.28	-14.0423	12.0429	0.53462	1.0:0.0:0.0:0.0	.	62;62	B4DLE5;P0C024	.;NUDT7_HUMAN	G	62	ENSP00000268533:E62G;ENSP00000387707:E62G	ENSP00000268533:E62G	E	+	2	0	NUDT7	76316978	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	3.392000	0.52537	2.101000	0.63845	0.460000	0.39030	GAG	NUDT7	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000140876		0.433	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT7	HGNC	protein_coding	OTTHUMT00000433873.1	135	0.00	0	A			77759477	77759477	+1	no_errors	ENST00000268533	ensembl	human	known	69_37n	missense	135	15.62	25	SNP	1.000	G
OR4C15	81309	genome.wustl.edu	37	11	55322145	55322145	+	Silent	SNP	C	C	T	rs550631405		TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr11:55322145C>T	ENST00000314644.2	+	1	363	c.363C>T	c.(361-363)ttC>ttT	p.F121F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCCTGTCCTTCCTGGATGCGT	0.473										HNSCC(20;0.049)			c|||	1	0.000199681	0.0008	0.0	5008	,	,		20061	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													186.0	151.0	163.0					11																	55322145		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.363C>T	11.37:g.55322145C>T			Q6IFE2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F121	ENST00000314644.2	37	c.363	CCDS31501.1	11																																																																																			OR4C15	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181939		0.473	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	85	0.00	0	C	NM_001001920		55322145	55322145	+1	no_errors	ENST00000314644	ensembl	human	known	69_37n	silent	78	18.75	18	SNP	0.000	T
OR4C15	81309	genome.wustl.edu	37	11	55322145	55322145	+	Silent	SNP	C	C	T	rs550631405		TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr11:55322145C>T	ENST00000314644.2	+	1	363	c.363C>T	c.(361-363)ttC>ttT	p.F121F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCCTGTCCTTCCTGGATGCGT	0.473										HNSCC(20;0.049)			c|||	1	0.000199681	0.0008	0.0	5008	,	,		20061	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													186.0	151.0	163.0					11																	55322145		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.363C>T	11.37:g.55322145C>T			Q6IFE2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F121	ENST00000314644.2	37	c.363	CCDS31501.1	11																																																																																			OR4C15	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181939		0.473	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	87	0.00	0	C	NM_001001920		55322145	55322145	+1	no_errors	ENST00000314644	ensembl	human	known	69_37n	silent	78	18.75	18	SNP	0.000	T
PCDH17	27253	genome.wustl.edu	37	13	58208939	58208939	+	Silent	SNP	T	T	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr13:58208939T>A	ENST00000377918.3	+	1	2285	c.2259T>A	c.(2257-2259)ggT>ggA	p.G753G		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	753					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGCAGCTGGGTGGGGGCAAGG	0.552																																					Melanoma(72;952 1291 1619 12849 33676)	dbGAP											0													78.0	72.0	74.0					13																	58208939		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2259T>A	13.37:g.58208939T>A			A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G753	ENST00000377918.3	37	c.2259	CCDS31986.1	13																																																																																			PCDH17	-	NULL	ENSG00000118946		0.552	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	79	0.00	0	T	NM_001040429		58208939	58208939	+1	no_errors	ENST00000377918	ensembl	human	known	69_37n	silent	110	22.92	33	SNP	1.000	A
PCDH17	27253	genome.wustl.edu	37	13	58208939	58208939	+	Silent	SNP	T	T	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr13:58208939T>A	ENST00000377918.3	+	1	2285	c.2259T>A	c.(2257-2259)ggT>ggA	p.G753G		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	753					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGCAGCTGGGTGGGGGCAAGG	0.552																																					Melanoma(72;952 1291 1619 12849 33676)	dbGAP											0													78.0	72.0	74.0					13																	58208939		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2259T>A	13.37:g.58208939T>A			A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G753	ENST00000377918.3	37	c.2259	CCDS31986.1	13																																																																																			PCDH17	-	NULL	ENSG00000118946		0.552	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	81	0.00	0	T	NM_001040429		58208939	58208939	+1	no_errors	ENST00000377918	ensembl	human	known	69_37n	silent	110	22.92	33	SNP	1.000	A
PDXDC1	23042	genome.wustl.edu	37	16	15100357	15100357	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr16:15100357T>C	ENST00000396410.4	+	6	593	c.496T>C	c.(496-498)Ttc>Ctc	p.F166L	PDXDC1_ENST00000563679.1_Missense_Mutation_p.F184L|PDXDC1_ENST00000455313.2_Missense_Mutation_p.F166L|PDXDC1_ENST00000535621.2_Missense_Mutation_p.F166L|PDXDC1_ENST00000325823.7_Missense_Mutation_p.F151L|PDXDC1_ENST00000447912.2_Missense_Mutation_p.F75L|PDXDC1_ENST00000569715.1_Missense_Mutation_p.F139L|PDXDC1_ENST00000450288.2_Missense_Mutation_p.F138L	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	166					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.F166L(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTGGATGGCTTCAATGTGTT	0.423																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											159.0	156.0	157.0					16																	15100357		2197	4300	6497	-	-	-	SO:0001583	missense	0			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.496T>C	16.37:g.15100357T>C	ENSP00000379691:p.Phe166Leu		B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.F166L	ENST00000396410.4	37	c.496	CCDS32393.1	16	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006920	0.74932	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000455313	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	5.71	5.71	0.89125	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.048954	0.85682	D	0.000000	T	0.44726	0.1307	L	0.49640	1.575	0.58432	D	0.999999	P;P;P;P;P;P;B	0.46512	0.879;0.802;0.879;0.684;0.879;0.879;0.097	P;P;P;P;P;P;B	0.51657	0.559;0.527;0.559;0.453;0.676;0.559;0.196	T	0.17899	-1.0354	10	0.23302	T	0.38	-0.9307	15.1648	0.72814	0.0:0.0:0.0:1.0	.	138;75;151;166;138;166;166	E7EPL4;E7EMH5;B4DHL7;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;.;PDXD1_HUMAN;.	L	151;75;166;166;138;166	ENSP00000322807:F151L;ENSP00000400310:F75L;ENSP00000437835:F166L;ENSP00000379691:F166L;ENSP00000391147:F138L;ENSP00000406703:F166L	ENSP00000322807:F151L	F	+	1	0	PDXDC1	15007858	1.000000	0.71417	0.994000	0.49952	0.956000	0.61745	7.083000	0.76859	2.185000	0.69588	0.528000	0.53228	TTC	PDXDC1	-	superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000179889		0.423	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDXDC1	HGNC	protein_coding	OTTHUMT00000389065.2	211	0.00	0	T	NM_015027		15100357	15100357	+1	no_errors	ENST00000396410	ensembl	human	known	69_37n	missense	229	18.51	52	SNP	0.998	C
PDXDC1	23042	genome.wustl.edu	37	16	15100357	15100357	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr16:15100357T>C	ENST00000396410.4	+	6	593	c.496T>C	c.(496-498)Ttc>Ctc	p.F166L	PDXDC1_ENST00000563679.1_Missense_Mutation_p.F184L|PDXDC1_ENST00000455313.2_Missense_Mutation_p.F166L|PDXDC1_ENST00000535621.2_Missense_Mutation_p.F166L|PDXDC1_ENST00000325823.7_Missense_Mutation_p.F151L|PDXDC1_ENST00000447912.2_Missense_Mutation_p.F75L|PDXDC1_ENST00000569715.1_Missense_Mutation_p.F139L|PDXDC1_ENST00000450288.2_Missense_Mutation_p.F138L	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	166					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.F166L(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTGGATGGCTTCAATGTGTT	0.423																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											159.0	156.0	157.0					16																	15100357		2197	4300	6497	-	-	-	SO:0001583	missense	0			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.496T>C	16.37:g.15100357T>C	ENSP00000379691:p.Phe166Leu		B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.F166L	ENST00000396410.4	37	c.496	CCDS32393.1	16	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006920	0.74932	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000455313	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	5.71	5.71	0.89125	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.048954	0.85682	D	0.000000	T	0.44726	0.1307	L	0.49640	1.575	0.58432	D	0.999999	P;P;P;P;P;P;B	0.46512	0.879;0.802;0.879;0.684;0.879;0.879;0.097	P;P;P;P;P;P;B	0.51657	0.559;0.527;0.559;0.453;0.676;0.559;0.196	T	0.17899	-1.0354	10	0.23302	T	0.38	-0.9307	15.1648	0.72814	0.0:0.0:0.0:1.0	.	138;75;151;166;138;166;166	E7EPL4;E7EMH5;B4DHL7;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;.;PDXD1_HUMAN;.	L	151;75;166;166;138;166	ENSP00000322807:F151L;ENSP00000400310:F75L;ENSP00000437835:F166L;ENSP00000379691:F166L;ENSP00000391147:F138L;ENSP00000406703:F166L	ENSP00000322807:F151L	F	+	1	0	PDXDC1	15007858	1.000000	0.71417	0.994000	0.49952	0.956000	0.61745	7.083000	0.76859	2.185000	0.69588	0.528000	0.53228	TTC	PDXDC1	-	superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000179889		0.423	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDXDC1	HGNC	protein_coding	OTTHUMT00000389065.2	234	0.43	1	T	NM_015027		15100357	15100357	+1	no_errors	ENST00000396410	ensembl	human	known	69_37n	missense	229	18.51	52	SNP	0.998	C
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	123	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	129	62.06	211	SNP	1.000	G
POLE	5426	genome.wustl.edu	37	12	133253205	133253205	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr12:133253205G>T	ENST00000320574.5	-	9	879	c.836C>A	c.(835-837)aCc>aAc	p.T279N	POLE_ENST00000535270.1_Missense_Mutation_p.T252N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	279					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGGCAGTTTGGTCGTCTCAAT	0.493								DNA polymerases (catalytic subunits)																														dbGAP											0													107.0	92.0	97.0					12																	133253205		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.836C>A	12.37:g.133253205G>T	ENSP00000322570:p.Thr279Asn		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.T290N	ENST00000320574.5	37	c.869	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.125995	0.94429	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.49	5.49	0.81192	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.44850	0.1313	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.55768	-0.8089	10	0.87932	D	0	.	19.3785	0.94521	0.0:0.0:1.0:0.0	.	252;279	F5H1D6;Q07864	.;DPOE1_HUMAN	N	279;290;252;59;214	ENSP00000322570:T279N;ENSP00000406383:T290N;ENSP00000445753:T252N;ENSP00000442519:T59N	ENSP00000322570:T279N	T	-	2	0	POLE	131763278	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.762000	0.98944	2.566000	0.86566	0.561000	0.74099	ACC	POLE	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	ENSG00000177084		0.493	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	136	0.00	0	G	NM_006231		133253205	133253205	-1	no_errors	ENST00000455752	ensembl	human	known	69_37n	missense	142	18.86	33	SNP	1.000	T
POLE	5426	genome.wustl.edu	37	12	133253205	133253205	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr12:133253205G>T	ENST00000320574.5	-	9	879	c.836C>A	c.(835-837)aCc>aAc	p.T279N	POLE_ENST00000535270.1_Missense_Mutation_p.T252N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	279					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGGCAGTTTGGTCGTCTCAAT	0.493								DNA polymerases (catalytic subunits)																														dbGAP											0													107.0	92.0	97.0					12																	133253205		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.836C>A	12.37:g.133253205G>T	ENSP00000322570:p.Thr279Asn		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.T290N	ENST00000320574.5	37	c.869	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.125995	0.94429	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.49	5.49	0.81192	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.44850	0.1313	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.55768	-0.8089	10	0.87932	D	0	.	19.3785	0.94521	0.0:0.0:1.0:0.0	.	252;279	F5H1D6;Q07864	.;DPOE1_HUMAN	N	279;290;252;59;214	ENSP00000322570:T279N;ENSP00000406383:T290N;ENSP00000445753:T252N;ENSP00000442519:T59N	ENSP00000322570:T279N	T	-	2	0	POLE	131763278	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.762000	0.98944	2.566000	0.86566	0.561000	0.74099	ACC	POLE	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	ENSG00000177084		0.493	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	137	0.00	0	G	NM_006231		133253205	133253205	-1	no_errors	ENST00000455752	ensembl	human	known	69_37n	missense	142	18.86	33	SNP	1.000	T
PTCHD1	139411	genome.wustl.edu	37	X	23353126	23353126	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chrX:23353126G>A	ENST00000379361.4	+	1	994	c.134G>A	c.(133-135)cGc>cAc	p.R45H		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	45					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGCTTCAGCCGCTACCAGGTC	0.647																																						dbGAP											0													30.0	35.0	33.0					X																	23353126		2190	4270	6460	-	-	-	SO:0001583	missense	0			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.134G>A	X.37:g.23353126G>A	ENSP00000368666:p.Arg45His		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.R45H	ENST00000379361.4	37	c.134	CCDS35215.2	X	.	.	.	.	.	.	.	.	.	.	g	20.8	4.051626	0.75960	.	.	ENSG00000165186	ENST00000379361	D	0.89485	-2.52	4.46	4.46	0.54185	.	0.068974	0.52532	D	0.000065	D	0.83519	0.5272	L	0.36672	1.1	0.48288	D	0.999626	P	0.47677	0.899	B	0.41860	0.368	T	0.81618	-0.0851	10	0.15499	T	0.54	-19.228	16.0255	0.80541	0.0:0.0:1.0:0.0	.	45	Q96NR3	PTHD1_HUMAN	H	45	ENSP00000368666:R45H	ENSP00000368666:R45H	R	+	2	0	PTCHD1	23263047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.037000	0.76531	2.052000	0.61016	0.502000	0.49764	CGC	PTCHD1	-	NULL	ENSG00000165186		0.647	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	HGNC	protein_coding	OTTHUMT00000056047.2	76	0.00	0	G	NM_173495		23353126	23353126	+1	no_errors	ENST00000379361	ensembl	human	known	69_37n	missense	87	26.89	32	SNP	1.000	A
PTCHD1	139411	genome.wustl.edu	37	X	23353126	23353126	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chrX:23353126G>A	ENST00000379361.4	+	1	994	c.134G>A	c.(133-135)cGc>cAc	p.R45H		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	45					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGCTTCAGCCGCTACCAGGTC	0.647																																						dbGAP											0													30.0	35.0	33.0					X																	23353126		2190	4270	6460	-	-	-	SO:0001583	missense	0			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.134G>A	X.37:g.23353126G>A	ENSP00000368666:p.Arg45His		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.R45H	ENST00000379361.4	37	c.134	CCDS35215.2	X	.	.	.	.	.	.	.	.	.	.	g	20.8	4.051626	0.75960	.	.	ENSG00000165186	ENST00000379361	D	0.89485	-2.52	4.46	4.46	0.54185	.	0.068974	0.52532	D	0.000065	D	0.83519	0.5272	L	0.36672	1.1	0.48288	D	0.999626	P	0.47677	0.899	B	0.41860	0.368	T	0.81618	-0.0851	10	0.15499	T	0.54	-19.228	16.0255	0.80541	0.0:0.0:1.0:0.0	.	45	Q96NR3	PTHD1_HUMAN	H	45	ENSP00000368666:R45H	ENSP00000368666:R45H	R	+	2	0	PTCHD1	23263047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.037000	0.76531	2.052000	0.61016	0.502000	0.49764	CGC	PTCHD1	-	NULL	ENSG00000165186		0.647	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	HGNC	protein_coding	OTTHUMT00000056047.2	85	0.00	0	G	NM_173495		23353126	23353126	+1	no_errors	ENST00000379361	ensembl	human	known	69_37n	missense	87	26.89	32	SNP	1.000	A
SLC25A53	401612	genome.wustl.edu	37	X	103349780	103349780	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chrX:103349780C>T	ENST00000357421.4	-	2	341	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	54					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											GATCTGTTGCCGGAACACAAC	0.502																																						dbGAP											0													65.0	60.0	62.0					X																	103349780		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.161G>A	X.37:g.103349780C>T	ENSP00000361681:p.Arg54Gln		B2RTT9	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.R54Q	ENST00000357421.4	37	c.161	CCDS35363.1	X	.	.	.	.	.	.	.	.	.	.	c	21.7	4.189230	0.78789	.	.	ENSG00000176274	ENST00000357421	D	0.83591	-1.74	4.02	4.02	0.46733	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.85710	2.77	0.51233	D	0.999913	D	0.89917	1.0	D	0.87578	0.998	D	0.92371	0.5905	10	0.87932	D	0	-9.1359	12.9602	0.58453	0.0:1.0:0.0:0.0	.	54	Q5H9E4	MCAR6_HUMAN	Q	54	ENSP00000361681:R54Q	ENSP00000361681:R54Q	R	-	2	0	MCART6	103236436	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.777000	0.75028	2.005000	0.58758	0.519000	0.50382	CGG	SLC25A53	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000176274		0.502	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A53	HGNC	protein_coding	OTTHUMT00000057761.1	92	0.00	0	C	NM_001012755		103349780	103349780	-1	no_errors	ENST00000357421	ensembl	human	known	69_37n	missense	108	13.60	17	SNP	1.000	T
SLC25A53	401612	genome.wustl.edu	37	X	103349780	103349780	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chrX:103349780C>T	ENST00000357421.4	-	2	341	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	54					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											GATCTGTTGCCGGAACACAAC	0.502																																						dbGAP											0													65.0	60.0	62.0					X																	103349780		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.161G>A	X.37:g.103349780C>T	ENSP00000361681:p.Arg54Gln		B2RTT9	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.R54Q	ENST00000357421.4	37	c.161	CCDS35363.1	X	.	.	.	.	.	.	.	.	.	.	c	21.7	4.189230	0.78789	.	.	ENSG00000176274	ENST00000357421	D	0.83591	-1.74	4.02	4.02	0.46733	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.85710	2.77	0.51233	D	0.999913	D	0.89917	1.0	D	0.87578	0.998	D	0.92371	0.5905	10	0.87932	D	0	-9.1359	12.9602	0.58453	0.0:1.0:0.0:0.0	.	54	Q5H9E4	MCAR6_HUMAN	Q	54	ENSP00000361681:R54Q	ENSP00000361681:R54Q	R	-	2	0	MCART6	103236436	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.777000	0.75028	2.005000	0.58758	0.519000	0.50382	CGG	SLC25A53	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000176274		0.502	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A53	HGNC	protein_coding	OTTHUMT00000057761.1	72	0.00	0	C	NM_001012755		103349780	103349780	-1	no_errors	ENST00000357421	ensembl	human	known	69_37n	missense	108	13.60	17	SNP	1.000	T
SLITRK6	84189	genome.wustl.edu	37	13	86369908	86369908	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr13:86369908C>A	ENST00000400286.2	-	2	1334	c.736G>T	c.(736-738)Gtc>Ttc	p.V246F		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	246	LRRCT 1.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTGTTGCAGACAACATCACCA	0.413																																						dbGAP											0													77.0	72.0	73.0					13																	86369908		1881	4099	5980	-	-	-	SO:0001583	missense	0			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.736G>T	13.37:g.86369908C>A	ENSP00000383143:p.Val246Phe		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.V246F	ENST00000400286.2	37	c.736	CCDS41903.1	13	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354706	0.24512	.	.	ENSG00000184564	ENST00000400286	T	0.57595	0.39	5.96	5.11	0.69529	Cysteine-rich flanking region, C-terminal (1);	0.061958	0.64402	D	0.000004	T	0.51770	0.1694	L	0.56124	1.755	0.52099	D	0.999946	P	0.47191	0.891	P	0.44597	0.454	T	0.53215	-0.8470	10	0.44086	T	0.13	-13.0913	12.9662	0.58485	0.0:0.9212:0.0:0.0788	.	246	Q9H5Y7	SLIK6_HUMAN	F	246	ENSP00000383143:V246F	ENSP00000383143:V246F	V	-	1	0	SLITRK6	85267909	0.999000	0.42202	0.036000	0.18154	0.092000	0.18411	1.739000	0.38217	1.507000	0.48752	0.655000	0.94253	GTC	SLITRK6	-	smart_Cys-rich_flank_reg_C	ENSG00000184564		0.413	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	HGNC	protein_coding	OTTHUMT00000045404.2	61	0.00	0	C	NM_032229		86369908	86369908	-1	no_errors	ENST00000400286	ensembl	human	known	69_37n	missense	41	22.64	12	SNP	1.000	A
SLITRK6	84189	genome.wustl.edu	37	13	86369908	86369908	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr13:86369908C>A	ENST00000400286.2	-	2	1334	c.736G>T	c.(736-738)Gtc>Ttc	p.V246F		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	246	LRRCT 1.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTGTTGCAGACAACATCACCA	0.413																																						dbGAP											0													77.0	72.0	73.0					13																	86369908		1881	4099	5980	-	-	-	SO:0001583	missense	0			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.736G>T	13.37:g.86369908C>A	ENSP00000383143:p.Val246Phe		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.V246F	ENST00000400286.2	37	c.736	CCDS41903.1	13	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354706	0.24512	.	.	ENSG00000184564	ENST00000400286	T	0.57595	0.39	5.96	5.11	0.69529	Cysteine-rich flanking region, C-terminal (1);	0.061958	0.64402	D	0.000004	T	0.51770	0.1694	L	0.56124	1.755	0.52099	D	0.999946	P	0.47191	0.891	P	0.44597	0.454	T	0.53215	-0.8470	10	0.44086	T	0.13	-13.0913	12.9662	0.58485	0.0:0.9212:0.0:0.0788	.	246	Q9H5Y7	SLIK6_HUMAN	F	246	ENSP00000383143:V246F	ENSP00000383143:V246F	V	-	1	0	SLITRK6	85267909	0.999000	0.42202	0.036000	0.18154	0.092000	0.18411	1.739000	0.38217	1.507000	0.48752	0.655000	0.94253	GTC	SLITRK6	-	smart_Cys-rich_flank_reg_C	ENSG00000184564		0.413	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	HGNC	protein_coding	OTTHUMT00000045404.2	57	0.00	0	C	NM_032229		86369908	86369908	-1	no_errors	ENST00000400286	ensembl	human	known	69_37n	missense	41	22.64	12	SNP	1.000	A
SNTB1	6641	genome.wustl.edu	37	8	121823729	121823729	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr8:121823729C>G	ENST00000395601.3	-	2	769	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	SNTB1_ENST00000517992.1_Missense_Mutation_p.E119Q|RP11-713M15.2_ENST00000605955.1_RNA|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	119	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CCGCCCAGCTCCTGCTTCAGC	0.652																																						dbGAP											0													41.0	41.0	41.0					8																	121823729		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.355G>C	8.37:g.121823729C>G	ENSP00000378965:p.Glu119Gln		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.E119Q	ENST00000395601.3	37	c.355	CCDS6334.1	8	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726768	0.89298	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.52526	0.66;0.66	4.92	4.92	0.64577	PDZ/DHR/GLGF (3);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	L	0.31752	0.955	0.80722	D	1	D;D	0.89917	0.967;1.0	P;D	0.87578	0.838;0.998	T	0.60156	-0.7318	10	0.46703	T	0.11	.	17.7004	0.88293	0.0:1.0:0.0:0.0	.	119;119	Q13884;Q13884-2	SNTB1_HUMAN;.	Q	119	ENSP00000378965:E119Q;ENSP00000431124:E119Q	ENSP00000378965:E119Q	E	-	1	0	SNTB1	121892910	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.263000	0.78421	2.248000	0.74166	0.561000	0.74099	GAG	SNTB1	-	pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	ENSG00000172164		0.652	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB1	HGNC	protein_coding	OTTHUMT00000381535.1	89	0.00	0	C	NM_021021		121823729	121823729	-1	no_errors	ENST00000395601	ensembl	human	known	69_37n	missense	154	20.92	41	SNP	1.000	G
SNTB1	6641	genome.wustl.edu	37	8	121823729	121823729	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr8:121823729C>G	ENST00000395601.3	-	2	769	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	SNTB1_ENST00000517992.1_Missense_Mutation_p.E119Q|RP11-713M15.2_ENST00000605955.1_RNA|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	119	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CCGCCCAGCTCCTGCTTCAGC	0.652																																						dbGAP											0													41.0	41.0	41.0					8																	121823729		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.355G>C	8.37:g.121823729C>G	ENSP00000378965:p.Glu119Gln		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.E119Q	ENST00000395601.3	37	c.355	CCDS6334.1	8	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726768	0.89298	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.52526	0.66;0.66	4.92	4.92	0.64577	PDZ/DHR/GLGF (3);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	L	0.31752	0.955	0.80722	D	1	D;D	0.89917	0.967;1.0	P;D	0.87578	0.838;0.998	T	0.60156	-0.7318	10	0.46703	T	0.11	.	17.7004	0.88293	0.0:1.0:0.0:0.0	.	119;119	Q13884;Q13884-2	SNTB1_HUMAN;.	Q	119	ENSP00000378965:E119Q;ENSP00000431124:E119Q	ENSP00000378965:E119Q	E	-	1	0	SNTB1	121892910	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.263000	0.78421	2.248000	0.74166	0.561000	0.74099	GAG	SNTB1	-	pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	ENSG00000172164		0.652	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB1	HGNC	protein_coding	OTTHUMT00000381535.1	67	0.00	0	C	NM_021021		121823729	121823729	-1	no_errors	ENST00000395601	ensembl	human	known	69_37n	missense	154	20.92	41	SNP	1.000	G
SPTLC2	9517	genome.wustl.edu	37	14	78043232	78043232	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr14:78043232A>C	ENST00000216484.2	-	4	702	c.509T>G	c.(508-510)gTt>gGt	p.V170G		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	170					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	CATGTTTATAACACCCTTTAT	0.383																																						dbGAP											0													191.0	193.0	192.0					14																	78043232		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.509T>G	14.37:g.78043232A>C	ENSP00000216484:p.Val170Gly		Q16685	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.V170G	ENST00000216484.2	37	c.509	CCDS9865.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.1|24.1	4.490345|4.490345	0.84962|0.84962	.|.	.|.	ENSG00000100596|ENSG00000100596	ENST00000554901|ENST00000216484	.|D	.|0.95377	.|-3.69	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98220|0.98220	0.9411|0.9411	H|H	0.97390|0.97390	3.995|3.995	0.80722|0.80722	D|D	1|1	.|P	.|0.42248	.|0.774	.|P	.|0.52823	.|0.71	D|D	0.99331|0.99331	1.0909|1.0909	5|10	.|0.87932	.|D	.|0	-22.0274|-22.0274	15.8534|15.8534	0.78952|0.78952	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|170	.|O15270	.|SPTC2_HUMAN	W|G	106|170	.|ENSP00000216484:V170G	.|ENSP00000216484:V170G	C|V	-|-	3|2	2|0	SPTLC2|SPTLC2	77112985|77112985	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	9.228000|9.228000	0.95250|0.95250	2.154000|2.154000	0.67381|0.67381	0.533000|0.533000	0.62120|0.62120	TGT|GTT	SPTLC2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000100596		0.383	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC2	HGNC	protein_coding	OTTHUMT00000414030.1	153	0.00	0	A	NM_004863		78043232	78043232	-1	no_errors	ENST00000216484	ensembl	human	known	69_37n	missense	166	11.17	21	SNP	1.000	C
SPTLC2	9517	genome.wustl.edu	37	14	78043232	78043232	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr14:78043232A>C	ENST00000216484.2	-	4	702	c.509T>G	c.(508-510)gTt>gGt	p.V170G		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	170					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	CATGTTTATAACACCCTTTAT	0.383																																						dbGAP											0													191.0	193.0	192.0					14																	78043232		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.509T>G	14.37:g.78043232A>C	ENSP00000216484:p.Val170Gly		Q16685	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.V170G	ENST00000216484.2	37	c.509	CCDS9865.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.1|24.1	4.490345|4.490345	0.84962|0.84962	.|.	.|.	ENSG00000100596|ENSG00000100596	ENST00000554901|ENST00000216484	.|D	.|0.95377	.|-3.69	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98220|0.98220	0.9411|0.9411	H|H	0.97390|0.97390	3.995|3.995	0.80722|0.80722	D|D	1|1	.|P	.|0.42248	.|0.774	.|P	.|0.52823	.|0.71	D|D	0.99331|0.99331	1.0909|1.0909	5|10	.|0.87932	.|D	.|0	-22.0274|-22.0274	15.8534|15.8534	0.78952|0.78952	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|170	.|O15270	.|SPTC2_HUMAN	W|G	106|170	.|ENSP00000216484:V170G	.|ENSP00000216484:V170G	C|V	-|-	3|2	2|0	SPTLC2|SPTLC2	77112985|77112985	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	9.228000|9.228000	0.95250|0.95250	2.154000|2.154000	0.67381|0.67381	0.533000|0.533000	0.62120|0.62120	TGT|GTT	SPTLC2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000100596		0.383	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC2	HGNC	protein_coding	OTTHUMT00000414030.1	146	0.00	0	A	NM_004863		78043232	78043232	-1	no_errors	ENST00000216484	ensembl	human	known	69_37n	missense	166	11.17	21	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7577081	7577081	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr17:7577081T>G	ENST00000269305.4	-	8	1046	c.857A>C	c.(856-858)gAa>gCa	p.E286A	TP53_ENST00000455263.2_Missense_Mutation_p.E286A|TP53_ENST00000359597.4_Missense_Mutation_p.E286A|TP53_ENST00000445888.2_Missense_Mutation_p.E286A|TP53_ENST00000420246.2_Missense_Mutation_p.E286A|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	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	286	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11023613, ECO:0000269|PubMed:8316628}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:8829627}.|E -> V (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.E286G(18)|p.E286V(9)|p.0?(8)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E286A(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	GAGATTCTCTTCCTCTGTGCG	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"""	51	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	large_intestine(9)|liver(6)|haematopoietic_and_lymphoid_tissue(5)|upper_aerodigestive_tract(4)|lung(4)|breast(4)|bone(4)|stomach(3)|central_nervous_system(3)|urinary_tract(3)|oesophagus(2)|ovary(2)|soft_tissue(1)|skin(1)	GRCh37	CM920679	TP53	M							95.0	81.0	86.0					17																	7577081		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.857A>C	17.37:g.7577081T>G	ENSP00000269305:p.Glu286Ala		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.E286A	ENST00000269305.4	37	c.857	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	17.20	3.329635	0.60743	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	5.12	4.04	0.47022	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	0.99857	0.9933	M	0.92077	3.27	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.996;0.998;0.999	D;D;D;D	0.79784	0.988;0.976;0.992;0.993	D	0.97429	1.0014	10	0.87932	D	0	-23.2961	9.0226	0.36209	0.0:0.0873:0.0:0.9127	.	286;286;286;286	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	A	286;286;286;286;286;275;154	ENSP00000352610:E286A;ENSP00000269305:E286A;ENSP00000398846:E286A;ENSP00000391127:E286A;ENSP00000391478:E286A;ENSP00000425104:E154A	ENSP00000269305:E286A	E	-	2	0	TP53	7517806	1.000000	0.71417	0.970000	0.41538	0.305000	0.27757	7.447000	0.80620	0.965000	0.38133	-0.379000	0.06801	GAA	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	205	0.49	1	T	NM_000546		7577081	7577081	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	128	39.15	83	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7577081	7577081	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr17:7577081T>G	ENST00000269305.4	-	8	1046	c.857A>C	c.(856-858)gAa>gCa	p.E286A	TP53_ENST00000455263.2_Missense_Mutation_p.E286A|TP53_ENST00000359597.4_Missense_Mutation_p.E286A|TP53_ENST00000445888.2_Missense_Mutation_p.E286A|TP53_ENST00000420246.2_Missense_Mutation_p.E286A|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	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	286	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11023613, ECO:0000269|PubMed:8316628}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:8829627}.|E -> V (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.E286G(18)|p.E286V(9)|p.0?(8)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E286A(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	GAGATTCTCTTCCTCTGTGCG	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"""	51	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	large_intestine(9)|liver(6)|haematopoietic_and_lymphoid_tissue(5)|upper_aerodigestive_tract(4)|lung(4)|breast(4)|bone(4)|stomach(3)|central_nervous_system(3)|urinary_tract(3)|oesophagus(2)|ovary(2)|soft_tissue(1)|skin(1)	GRCh37	CM920679	TP53	M							95.0	81.0	86.0					17																	7577081		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.857A>C	17.37:g.7577081T>G	ENSP00000269305:p.Glu286Ala		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.E286A	ENST00000269305.4	37	c.857	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	17.20	3.329635	0.60743	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	5.12	4.04	0.47022	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	0.99857	0.9933	M	0.92077	3.27	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.996;0.998;0.999	D;D;D;D	0.79784	0.988;0.976;0.992;0.993	D	0.97429	1.0014	10	0.87932	D	0	-23.2961	9.0226	0.36209	0.0:0.0873:0.0:0.9127	.	286;286;286;286	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	A	286;286;286;286;286;275;154	ENSP00000352610:E286A;ENSP00000269305:E286A;ENSP00000398846:E286A;ENSP00000391127:E286A;ENSP00000391478:E286A;ENSP00000425104:E154A	ENSP00000269305:E286A	E	-	2	0	TP53	7517806	1.000000	0.71417	0.970000	0.41538	0.305000	0.27757	7.447000	0.80620	0.965000	0.38133	-0.379000	0.06801	GAA	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	268	0.00	0	T	NM_000546		7577081	7577081	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	128	39.15	83	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179463325	179463325	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr2:179463325G>T	ENST00000591111.1	-	242	52320	c.52096C>A	c.(52096-52098)Ctg>Atg	p.L17366M	TTN_ENST00000359218.5_Missense_Mutation_p.L10067M|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L10134M|TTN_ENST00000460472.2_Missense_Mutation_p.L9942M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L19007M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L16439M|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17366	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCACTCCAGATCTGCAGAT	0.428																																						dbGAP											0													74.0	71.0	72.0					2																	179463325		1841	4089	5930	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52096C>A	2.37:g.179463325G>T	ENSP00000465570:p.Leu17366Met		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L16439M	ENST00000591111.1	37	c.49315		2	.	.	.	.	.	.	.	.	.	.	G	9.144	1.014639	0.19355	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.91	-0.486	0.12064	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80864	0.4705	M	0.84773	2.715	0.36828	D	0.886725	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.83505	0.0077	9	0.87932	D	0	.	11.8647	0.52486	0.4922:0.0:0.5078:0.0	.	9942;10067;10134;17366	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	16439;9942;10134;10067;9940	ENSP00000343764:L16439M;ENSP00000434586:L9942M;ENSP00000340554:L10134M;ENSP00000352154:L10067M	ENSP00000340554:L10134M	L	-	1	2	TTN	179171570	0.853000	0.29707	0.370000	0.25965	0.896000	0.52359	0.672000	0.25187	-0.017000	0.14103	0.650000	0.86243	CTG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	198	0.00	0	G	NM_133378		179463325	179463325	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	151	34.06	78	SNP	0.548	T
TTN	7273	genome.wustl.edu	37	2	179463325	179463325	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr2:179463325G>T	ENST00000591111.1	-	242	52320	c.52096C>A	c.(52096-52098)Ctg>Atg	p.L17366M	TTN_ENST00000359218.5_Missense_Mutation_p.L10067M|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L10134M|TTN_ENST00000460472.2_Missense_Mutation_p.L9942M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L19007M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L16439M|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17366	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCACTCCAGATCTGCAGAT	0.428																																						dbGAP											0													74.0	71.0	72.0					2																	179463325		1841	4089	5930	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52096C>A	2.37:g.179463325G>T	ENSP00000465570:p.Leu17366Met		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L16439M	ENST00000591111.1	37	c.49315		2	.	.	.	.	.	.	.	.	.	.	G	9.144	1.014639	0.19355	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.91	-0.486	0.12064	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80864	0.4705	M	0.84773	2.715	0.36828	D	0.886725	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.83505	0.0077	9	0.87932	D	0	.	11.8647	0.52486	0.4922:0.0:0.5078:0.0	.	9942;10067;10134;17366	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	16439;9942;10134;10067;9940	ENSP00000343764:L16439M;ENSP00000434586:L9942M;ENSP00000340554:L10134M;ENSP00000352154:L10067M	ENSP00000340554:L10134M	L	-	1	2	TTN	179171570	0.853000	0.29707	0.370000	0.25965	0.896000	0.52359	0.672000	0.25187	-0.017000	0.14103	0.650000	0.86243	CTG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	153	0.00	0	G	NM_133378		179463325	179463325	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	151	34.06	78	SNP	0.548	T
VWA5B1	127731	genome.wustl.edu	37	1	20656786	20656786	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr1:20656786C>G	ENST00000375079.2	+	10	1564	c.1368C>G	c.(1366-1368)caC>caG	p.H456Q	VWA5B1_ENST00000375083.4_Missense_Mutation_p.H456Q|VWA5B1_ENST00000289815.8_Missense_Mutation_p.H456Q|VWA5B1_ENST00000289825.4_Missense_Mutation_p.H173Q	NM_001039500.2	NP_001034589.2	Q5TIE3	VW5B1_HUMAN	von Willebrand factor A domain containing 5B1	456	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						ACCGAGGCCACCCGCGGCTCC	0.592																																						dbGAP											0													54.0	60.0	58.0					1																	20656786		692	1591	2283	-	-	-	SO:0001583	missense	0			AK125833, AK057346		1p36.12	2014-02-12			ENSG00000158816	ENSG00000158816			26538	protein-coding gene	gene with protein product							Standard	NM_001039500		Approved	FLJ32784	uc009vps.2	Q5TIE3	OTTHUMG00000002835	ENST00000375079.2:c.1368C>G	1.37:g.20656786C>G	ENSP00000364220:p.His456Gln		A4IF35|A4IF36|Q3ZCM4|Q6ZUB4|Q96M71	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.H456Q	ENST00000375079.2	37	c.1368		1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143738	0.57044	.	.	ENSG00000158816	ENST00000375089;ENST00000289815;ENST00000375083;ENST00000289825;ENST00000375079	T;T;T;T	0.06849	3.25;3.25;3.25;3.25	4.94	3.08	0.35506	von Willebrand factor, type A (3);	0.109676	0.64402	D	0.000008	T	0.20659	0.0497	L	0.60957	1.885	0.49051	D	0.999745	D;D;D	0.71674	0.995;0.998;0.997	D;D;D	0.66351	0.926;0.93;0.943	T	0.00211	-1.1915	10	0.72032	D	0.01	-5.5574	10.1303	0.42674	0.0:0.8359:0.0:0.1641	.	456;456;173	Q5TIE3;Q5TIE3-2;Q5TIE3-3	VW5B1_HUMAN;.;.	Q	456;456;456;173;456	ENSP00000289815:H456Q;ENSP00000364224:H456Q;ENSP00000289825:H173Q;ENSP00000364220:H456Q	ENSP00000289815:H456Q	H	+	3	2	VWA5B1	20529373	1.000000	0.71417	0.994000	0.49952	0.612000	0.37316	1.544000	0.36158	0.503000	0.28060	0.643000	0.83706	CAC	VWA5B1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000158816		0.592	VWA5B1-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	VWA5B1	HGNC	protein_coding	OTTHUMT00000007945.4	120	0.00	0	C	XM_001722222		20656786	20656786	+1	no_errors	ENST00000375089	ensembl	human	known	69_37n	missense	201	11.79	27	SNP	1.000	G
VWA5B1	127731	genome.wustl.edu	37	1	20656786	20656786	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr1:20656786C>G	ENST00000375079.2	+	10	1564	c.1368C>G	c.(1366-1368)caC>caG	p.H456Q	VWA5B1_ENST00000375083.4_Missense_Mutation_p.H456Q|VWA5B1_ENST00000289815.8_Missense_Mutation_p.H456Q|VWA5B1_ENST00000289825.4_Missense_Mutation_p.H173Q	NM_001039500.2	NP_001034589.2	Q5TIE3	VW5B1_HUMAN	von Willebrand factor A domain containing 5B1	456	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						ACCGAGGCCACCCGCGGCTCC	0.592																																						dbGAP											0													54.0	60.0	58.0					1																	20656786		692	1591	2283	-	-	-	SO:0001583	missense	0			AK125833, AK057346		1p36.12	2014-02-12			ENSG00000158816	ENSG00000158816			26538	protein-coding gene	gene with protein product							Standard	NM_001039500		Approved	FLJ32784	uc009vps.2	Q5TIE3	OTTHUMG00000002835	ENST00000375079.2:c.1368C>G	1.37:g.20656786C>G	ENSP00000364220:p.His456Gln		A4IF35|A4IF36|Q3ZCM4|Q6ZUB4|Q96M71	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.H456Q	ENST00000375079.2	37	c.1368		1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143738	0.57044	.	.	ENSG00000158816	ENST00000375089;ENST00000289815;ENST00000375083;ENST00000289825;ENST00000375079	T;T;T;T	0.06849	3.25;3.25;3.25;3.25	4.94	3.08	0.35506	von Willebrand factor, type A (3);	0.109676	0.64402	D	0.000008	T	0.20659	0.0497	L	0.60957	1.885	0.49051	D	0.999745	D;D;D	0.71674	0.995;0.998;0.997	D;D;D	0.66351	0.926;0.93;0.943	T	0.00211	-1.1915	10	0.72032	D	0.01	-5.5574	10.1303	0.42674	0.0:0.8359:0.0:0.1641	.	456;456;173	Q5TIE3;Q5TIE3-2;Q5TIE3-3	VW5B1_HUMAN;.;.	Q	456;456;456;173;456	ENSP00000289815:H456Q;ENSP00000364224:H456Q;ENSP00000289825:H173Q;ENSP00000364220:H456Q	ENSP00000289815:H456Q	H	+	3	2	VWA5B1	20529373	1.000000	0.71417	0.994000	0.49952	0.612000	0.37316	1.544000	0.36158	0.503000	0.28060	0.643000	0.83706	CAC	VWA5B1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000158816		0.592	VWA5B1-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	VWA5B1	HGNC	protein_coding	OTTHUMT00000007945.4	149	0.00	0	C	XM_001722222		20656786	20656786	+1	no_errors	ENST00000375089	ensembl	human	known	69_37n	missense	201	11.79	27	SNP	1.000	G
ZNF320	162967	genome.wustl.edu	37	19	53384563	53384563	+	Silent	SNP	A	A	G			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-11A-13D-A10Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc	g.chr19:53384563A>G	ENST00000595635.1	-	8	1317	c.816T>C	c.(814-816)ccT>ccC	p.P272P	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Silent_p.P272P|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TACATTTGTAAGGTTTCTCTC	0.403																																						dbGAP											0													129.0	118.0	121.0					19																	53384563		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.816T>C	19.37:g.53384563A>G			Q8NDR6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P272	ENST00000595635.1	37	c.816	CCDS33095.1	19																																																																																			ZNF320	-	pfscan_Znf_C2H2	ENSG00000182986		0.403	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF320	HGNC	protein_coding	OTTHUMT00000463771.1	175	0.00	0	A	NM_207333		53384563	53384563	-1	no_errors	ENST00000391781	ensembl	human	known	69_37n	silent	178	17.59	38	SNP	0.441	G
ZNF320	162967	genome.wustl.edu	37	19	53384563	53384563	+	Silent	SNP	A	A	G			TCGA-BH-A0DL-01A-11D-A10Y-09	TCGA-BH-A0DL-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f	261ed647-077d-4071-978f-ca030947436b	g.chr19:53384563A>G	ENST00000595635.1	-	8	1317	c.816T>C	c.(814-816)ccT>ccC	p.P272P	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Silent_p.P272P|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TACATTTGTAAGGTTTCTCTC	0.403																																						dbGAP											0													129.0	118.0	121.0					19																	53384563		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.816T>C	19.37:g.53384563A>G			Q8NDR6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P272	ENST00000595635.1	37	c.816	CCDS33095.1	19																																																																																			ZNF320	-	pfscan_Znf_C2H2	ENSG00000182986		0.403	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF320	HGNC	protein_coding	OTTHUMT00000463771.1	194	0.00	0	A	NM_207333		53384563	53384563	-1	no_errors	ENST00000391781	ensembl	human	known	69_37n	silent	178	17.59	38	SNP	0.441	G
