#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_ ensembl_gene_id	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
FZD5	7855	genome.wustl.edu	37	2	208632893	208632893	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr2:208632893T>A	ENST00000295417.3	-	2	1124	c.571A>T	c.(571-573)Aag>Tag	p.K191*		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	191					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TCGCGACACTTGCACACGAAC	0.706													ENSG00000163251																																					0													21.0	23.0	22.0					2																	208632893		2200	4298	6498	SO:0001587	stop_gained	0			-	U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"""GPCR / Class F : Frizzled receptors"""	4043	protein-coding gene	gene with protein product		601723	"""frizzled (Drosophila) homolog 5"", ""chromosome 2 open reading frame 31"", ""frizzled homolog 5 (Drosophila)"", ""frizzled 5, seven transmembrane spanning receptor"", ""frizzled family receptor 5"""	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.571A>T	2.37:g.208632893T>A	ENSP00000354607:p.Lys191*		A8K2X1|B2RCZ1|Q53R22	Nonsense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.K191*	ENST00000295417.3	37	c.571	CCDS33366.1	2	.	.	.	.	.	.	.	.	.	.	T	40	8.311456	0.98754	.	.	ENSG00000163251	ENST00000295417	.	.	.	4.68	3.49	0.39957	.	0.633028	0.14883	N	0.292824	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6576	0.34073	0.0:0.1556:0.0:0.8444	.	.	.	.	X	191	.	ENSP00000354607:K191X	K	-	1	0	FZD5	208341138	0.985000	0.35326	1.000000	0.80357	0.807000	0.45602	0.737000	0.26144	1.973000	0.57446	0.459000	0.35465	AAG	-	FZD5	-	NULL		0.706	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD5	HGNC	protein_coding	OTTHUMT00000337060.1	0	0	0	53	53	41	0.00	0.00	T	NM_003468		208632893	-1	14	13	21	23	tier1	no_errors	ENST00000295417	ensembl	human	known	74_37	nonsense	40.00	36.11	SNP	1.000	A	14	21
BARHL2	343472	genome.wustl.edu	37	1	91180171	91180171	+	Silent	SNP	G	G	A	rs371535178		TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr1:91180171G>A	ENST00000370445.4	-	2	809	c.768C>T	c.(766-768)taC>taT	p.Y256Y		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	256					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GCACGCTCAGGTACTTCTGCC	0.562													ENSG00000143032																									GBM(199;3561 4100 22440)												0								G		0,4406		0,0,2203	168.0	152.0	157.0		768	3.6	1.0	1		157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BARHL2	NM_020063.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		256/388	91180171	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.768C>T	1.37:g.91180171G>A			A0AVP2|Q7Z4N7	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.Y256	ENST00000370445.4	37	c.768	CCDS730.1	1																																																																																			-	BARHL2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa		0.562	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	HGNC	protein_coding	OTTHUMT00000027728.2	0	0	0	75	75	46	0.00	0.00	G			91180171	-1	13	9	42	32	tier1	no_errors	ENST00000370445	ensembl	human	known	74_37	silent	23.64	21.95	SNP	1.000	A	13	42
STEAP1	26872	genome.wustl.edu	37	7	89791383	89791383	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr7:89791383C>G	ENST00000297205.2	+	4	953	c.753C>G	c.(751-753)caC>caG	p.H251Q	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	251	Ferric oxidoreductase.				ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					GAGAATTTCACTATATTCAGG	0.333													ENSG00000164647																																					0													45.0	42.0	43.0					7																	89791383		2203	4295	6498	SO:0001583	missense	0			-	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.753C>G	7.37:g.89791383C>G	ENSP00000297205:p.His251Gln		A4D1E0|O95034	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom	p.H251Q	ENST00000297205.2	37	c.753	CCDS5614.1	7	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596192	0.28445	.	.	ENSG00000164647	ENST00000297205	D	0.90732	-2.72	5.73	-0.94	0.10405	Flavoprotein transmembrane component (1);	0.338343	0.29059	N	0.013262	T	0.81264	0.4786	L	0.40543	1.245	0.37471	D	0.915603	B;B	0.13145	0.007;0.003	B;B	0.12837	0.008;0.008	T	0.65948	-0.6044	10	0.29301	T	0.29	-10.2187	3.8591	0.08988	0.0984:0.3147:0.3857:0.2012	.	251;251	B4E221;Q9UHE8	.;STEA1_HUMAN	Q	251	ENSP00000297205:H251Q	ENSP00000297205:H251Q	H	+	3	2	STEAP1	89629319	0.136000	0.22515	0.997000	0.53966	0.887000	0.51463	-0.152000	0.10159	0.062000	0.16340	-0.929000	0.02709	CAC	-	STEAP1	-	pfam_Fe3_Rdtase_TM_dom		0.333	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP1	HGNC	protein_coding	OTTHUMT00000059327.3	0	0	0	109	109	64	0.00	0.00	C	NM_012449		89791383	+1	26	16	65	41	tier1	no_errors	ENST00000297205	ensembl	human	known	74_37	missense	28.57	28.07	SNP	0.969	G	26	65
RBM6	10180	genome.wustl.edu	37	3	50005514	50005514	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr3:50005514A>C	ENST00000266022.4	+	3	915	c.656A>C	c.(655-657)gAt>gCt	p.D219A	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.D87A|RBM6_ENST00000442092.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	219					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGGAATAGAGATGTATCTGAT	0.448													ENSG00000004534																																					0													68.0	69.0	69.0					3																	50005514		2203	4300	6503	SO:0001583	missense	0			-	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.656A>C	3.37:g.50005514A>C	ENSP00000266022:p.Asp219Ala		O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.D219A	ENST00000266022.4	37	c.656	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	A	11.64	1.699880	0.30142	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.34667	1.38;1.35	6.04	6.04	0.98038	.	0.214672	0.37437	N	0.002085	T	0.31327	0.0793	L	0.36672	1.1	0.80722	D	1	B	0.16603	0.018	B	0.18263	0.021	T	0.06770	-1.0808	9	.	.	.	-11.1019	16.5763	0.84648	1.0:0.0:0.0:0.0	.	219	P78332	RBM6_HUMAN	A	219;87	ENSP00000266022:D219A;ENSP00000396466:D87A	.	D	+	2	0	RBM6	49980518	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.804000	0.69135	2.317000	0.78254	0.459000	0.35465	GAT	-	RBM6	-	NULL		0.448	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	0	0	0	39	39	139	0.00	0.00	A	NM_005777		50005514	+1	7	63	20	78	tier1	no_errors	ENST00000266022	ensembl	human	known	74_37	missense	25.93	44.68	SNP	0.978	C	7	20
SCN2A	6326	genome.wustl.edu	37	2	166187935	166187935	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr2:166187935A>G	ENST00000375437.2	+	14	2535	c.2245A>G	c.(2245-2247)Aaa>Gaa	p.K749E	SCN2A_ENST00000357398.3_Missense_Mutation_p.K749E|SCN2A_ENST00000375427.2_Missense_Mutation_p.K749E|SCN2A_ENST00000283256.6_Missense_Mutation_p.K749E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	749					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTAAAGGTGAAACACCTTGT	0.418													ENSG00000136531																																					0													194.0	168.0	177.0					2																	166187935		2203	4300	6503	SO:0001583	missense	0			-	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2245A>G	2.37:g.166187935A>G	ENSP00000364586:p.Lys749Glu		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.K749E	ENST00000375437.2	37	c.2245	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	A	27.6	4.847885	0.91277	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.98229	0.9414	M	0.87180	2.865	0.58432	D	0.999996	D;D	0.76494	0.999;0.997	D;D	0.79784	0.974;0.993	D	0.99342	1.0912	10	0.87932	D	0	.	15.6948	0.77488	1.0:0.0:0.0:0.0	.	749;749	Q99250-2;Q99250	.;SCN2A_HUMAN	E	749	ENSP00000364586:K749E;ENSP00000349973:K749E;ENSP00000283256:K749E;ENSP00000364576:K749E	ENSP00000283256:K749E	K	+	1	0	SCN2A	165896181	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.339000	0.96797	2.114000	0.64651	0.477000	0.44152	AAA	-	SCN2A	-	NULL		0.418	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	0	0	0	71	71	123	0.00	0.00	A	NM_021007		166187935	+1	36	47	50	54	tier1	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	41.86	46.08	SNP	1.000	G	36	50
GRIA1	2890	genome.wustl.edu	37	5	152873487	152873487	+	Splice_Site	SNP	G	G	A			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr5:152873487G>A	ENST00000285900.5	+	2	425		c.e2-1		GRIA1_ENST00000521843.2_Splice_Site|GRIA1_ENST00000518142.1_Splice_Site|GRIA1_ENST00000518783.1_Splice_Site|GRIA1_ENST00000518862.1_Splice_Site|GRIA1_ENST00000448073.4_Splice_Site|GRIA1_ENST00000340592.5_Splice_Site	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TTTTCTCATAGGGGGATTATT	0.463													ENSG00000155511																																					0													109.0	107.0	107.0					5																	152873487		2203	4300	6503	SO:0001630	splice_region_variant	0			-		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.83-1G>A	5.37:g.152873487G>A			B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Splice_Site	SNP	-	e2-1	ENST00000285900.5	37	c.113-1	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825867	0.50739	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000518783;ENST00000448073	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3214	0.90239	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRIA1	152853680	1.000000	0.71417	0.996000	0.52242	0.699000	0.40488	7.604000	0.82830	2.548000	0.85928	0.655000	0.94253	.	-	GRIA1	-	-		0.463	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	0	0	0	49	49	79	0.00	0.00	G		Intron	152873487	+1	4	6	28	45	tier1	no_errors	ENST00000448073	ensembl	human	known	74_37	splice_site	12.50	11.54	SNP	1.000	A	4	28
KCNK10	54207	genome.wustl.edu	37	14	88652154	88652154	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr14:88652154C>T	ENST00000340700.5	-	7	1793	c.1342G>A	c.(1342-1344)Ggg>Agg	p.G448R	KCNK10_ENST00000312350.5_Missense_Mutation_p.G453R|KCNK10_ENST00000319231.5_Missense_Mutation_p.G453R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	448					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.G448R(1)|p.G453R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAGGTGGACCCGAACTTGTTG	0.542													ENSG00000100433																																					2	Substitution - Missense(2)	breast(2)											133.0	126.0	128.0					14																	88652154		2203	4300	6503	SO:0001583	missense	0			-	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1342G>A	14.37:g.88652154C>T	ENSP00000343104:p.Gly448Arg		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.G453R	ENST00000340700.5	37	c.1357	CCDS9880.1	14	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469234	0.84533	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.96459	-3.99;-4.01;-4.02	5.71	5.71	0.89125	.	0.333272	0.31566	N	0.007436	D	0.97368	0.9139	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98045	1.0384	10	0.87932	D	0	.	18.8558	0.92251	0.0:1.0:0.0:0.0	.	448;453;453	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	R	448;453;453	ENSP00000343104:G448R;ENSP00000310568:G453R;ENSP00000312811:G453R	ENSP00000310568:G453R	G	-	1	0	KCNK10	87721907	1.000000	0.71417	0.991000	0.47740	0.965000	0.64279	7.487000	0.81328	2.709000	0.92574	0.655000	0.94253	GGG	-	KCNK10	-	NULL		0.542	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK10	HGNC	protein_coding	OTTHUMT00000410167.1	0	0	0	141	141	114	0.00	0.00	C	NM_021161		88652154	-1	30	30	39	29	tier1	no_errors	ENST00000312350	ensembl	human	known	74_37	missense	43.48	50.85	SNP	1.000	T	30	39
KIF27	55582	genome.wustl.edu	37	9	86530369	86530369	+	Silent	SNP	A	A	C			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr9:86530369A>C	ENST00000297814.2	-	2	281	c.138T>G	c.(136-138)acT>acG	p.T46T	KIF27_ENST00000334204.2_Silent_p.T46T|KIF27_ENST00000413982.1_Silent_p.T46T	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	46	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CAAAATCAAAAGTGAAGACTC	0.378													ENSG00000165115																																					0													53.0	56.0	55.0					9																	86530369		2202	4297	6499	SO:0001819	synonymous_variant	0			-	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.138T>G	9.37:g.86530369A>C			B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T46	ENST00000297814.2	37	c.138	CCDS6665.1	9																																																																																			-	KIF27	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.378	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	0	0	0	142	142	86	0.00	0.00	A	NM_017576		86530369	-1	21	19	111	75	tier1	no_errors	ENST00000297814	ensembl	human	known	74_37	silent	15.79	20.21	SNP	0.998	C	21	111
AP1G2	8906	genome.wustl.edu	37	14	24028936	24028936	+	3'UTR	SNP	T	T	A			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr14:24028936T>A	ENST00000308724.5	-	0	3135				RP11-66N24.4_ENST00000556354.1_RNA|THTPA_ENST00000288014.6_3'UTR|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_3'UTR	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		ACAGGAGAATTTCAGGCTGTG	0.562											OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000157306																																					0													52.0	40.0	44.0					14																	24028936		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			-	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.*22A>T	14.37:g.24028936T>A		768	D3DS51|O75504	R	SNP	-	NULL	ENST00000308724.5	37	NULL	CCDS9602.1	14																																																																																			-	RP11-66N24.4	-	-		0.562	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THTPA	Clone_based_vega_gene	protein_coding	OTTHUMT00000071812.4	0	0	0	27	27	99	0.00	0.00	T	NM_003917		24028936	+1	4	19	18	91	tier1	no_errors	ENST00000553985	ensembl	human	known	74_37	rna	18.18	17.27	SNP	0.011	A	4	18
FRMPD4	9758	genome.wustl.edu	37	X	12736131	12736131	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chrX:12736131T>G	ENST00000380682.1	+	16	3692	c.3186T>G	c.(3184-3186)agT>agG	p.S1062R		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1062					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGAGGCCAGTGGTAAATTTG	0.512													ENSG00000169933																																					0													108.0	90.0	96.0					X																	12736131		2203	4300	6503	SO:0001583	missense	0			-	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3186T>G	X.37:g.12736131T>G	ENSP00000370057:p.Ser1062Arg		A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom	p.S1062R	ENST00000380682.1	37	c.3186	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	T	8.333	0.826946	0.16749	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05649	3.41	5.49	3.01	0.34805	.	0.366185	0.31821	N	0.007003	T	0.02767	0.0083	N	0.08118	0	0.21675	N	0.999596	B;B	0.19583	0.037;0.015	B;B	0.15052	0.012;0.012	T	0.41734	-0.9492	10	0.46703	T	0.11	-3.6168	1.7736	0.03017	0.4694:0.1333:0.0805:0.3168	.	1054;1062	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	R	1062;1053;1051	ENSP00000370057:S1062R	ENSP00000304583:S1051R	S	+	3	2	FRMPD4	12646052	1.000000	0.71417	0.867000	0.34043	0.871000	0.50021	2.119000	0.41958	0.219000	0.20840	0.486000	0.48141	AGT	-	FRMPD4	-	NULL		0.512	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	0	0	0	11	11	78	0.00	0.00	T	XM_045712		12736131	+1	13	31	9	43	tier1	no_errors	ENST00000380682	ensembl	human	known	74_37	missense	59.09	41.89	SNP	0.624	G	13	9
TRPM1	4308	genome.wustl.edu	37	15	31339353	31339353	+	Silent	SNP	G	G	A			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr15:31339353G>A	ENST00000256552.6	-	15	1872	c.1725C>T	c.(1723-1725)aaC>aaT	p.N575N	TRPM1_ENST00000397795.2_Silent_p.N553N|TRPM1_ENST00000542188.1_Silent_p.N592N	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGGTCCGAAAGTTTTTCCGAG	0.522													ENSG00000134160																																					0													113.0	114.0	113.0					15																	31339353		1965	4142	6107	SO:0001819	synonymous_variant	0			-	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1725C>T	15.37:g.31339353G>A				Silent	SNP	pfam_Ion_trans_dom	p.N592	ENST00000256552.6	37	c.1776	CCDS58346.1	15																																																																																			-	TRPM1	-	NULL		0.522	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	0	0	0	87	87	110	0.00	0.00	G	NM_002420		31339353	-1	29	31	43	71	tier1	no_errors	ENST00000542188	ensembl	human	known	74_37	silent	39.73	30.39	SNP	0.749	A	29	43
BAHCC1	57597	genome.wustl.edu	37	17	79426613	79426613	+	Missense_Mutation	SNP	C	C	T	rs374689780		TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr17:79426613C>T	ENST00000307745.7	+	27	5888	c.5888C>T	c.(5887-5889)cCg>cTg	p.P1963L	RP11-1055B8.8_ENST00000572590.1_RNA																							TGTCTGTACCCGGGCAACGTG	0.657													ENSG00000171282																																					0								C	LEU/PRO	0,4028		0,0,2014	45.0	52.0	50.0		5717	4.9	0.8	17		50	1,8331		0,1,4165	no	missense	BAHCC1	NM_001080519.2	98	0,1,6179	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	1906/2552	79426613	1,12359	2014	4166	6180	SO:0001583	missense	0			-																												ENST00000307745.7:c.5888C>T	17.37:g.79426613C>T	ENSP00000303486:p.Pro1963Leu			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.P1963L	ENST00000307745.7	37	c.5888		17	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433674	0.83776	0.0	1.2E-4	ENSG00000171282	ENST00000307745	T	0.51574	0.7	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000012	T	0.67841	0.2936	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.965;0.996	T	0.72157	-0.4375	10	0.87932	D	0	.	15.5589	0.76223	0.0:1.0:0.0:0.0	.	1963;1963	Q9P281;F8WBW8	BAHC1_HUMAN;.	L	1963	ENSP00000303486:P1963L	ENSP00000303486:P1963L	P	+	2	0	AC110285.1	77041208	1.000000	0.71417	0.806000	0.32338	0.768000	0.43524	5.275000	0.65575	2.273000	0.75805	0.561000	0.74099	CCG	-	RP11-1055B8.7	-	NULL		0.657	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	Clone_based_vega_gene	protein_coding		0	0	0	69	69	51	0.00	0.00	C			79426613	+1	28	34	23	29	tier1	no_errors	ENST00000307745	ensembl	human	known	74_37	missense	53.85	53.97	SNP	0.998	T	28	23
HIPK1	204851	genome.wustl.edu	37	1	114515911	114515911	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr1:114515911G>A	ENST00000369558.1	+	16	3642	c.3410G>A	c.(3409-3411)gGt>gAt	p.G1137D	HIPK1_ENST00000426820.2_Missense_Mutation_p.G1137D|HIPK1_ENST00000340480.4_Missense_Mutation_p.G763D|HIPK1_ENST00000369561.4_Missense_Mutation_p.G1103D|HIPK1_ENST00000406344.1_Missense_Mutation_p.G743D|HIPK1_ENST00000369553.1_Missense_Mutation_p.G743D|HIPK1_ENST00000369554.2_Missense_Mutation_p.G1092D|HIPK1_ENST00000369555.2_Missense_Mutation_p.G1092D			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1137					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCCCACAGGGTTCCTCAAGG	0.582													ENSG00000163349																																					0													185.0	152.0	163.0					1																	114515911		2203	4300	6503	SO:0001583	missense	0			-	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.3410G>A	1.37:g.114515911G>A	ENSP00000358571:p.Gly1137Asp		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G1137D	ENST00000369558.1	37	c.3410	CCDS867.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315087	0.81358	.	.	ENSG00000163349	ENST00000426820;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T	0.58797	0.31;0.38;0.34;0.34;0.38;0.33;3.39;2.48;2.48	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.67524	0.2902	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.995;0.998	T	0.63088	-0.6715	10	0.40728	T	0.16	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	429;743;1137	E9PCF6;Q86Z02-4;Q86Z02	.;.;HIPK1_HUMAN	D	1208;1137;1092;1092;1137;1103;763;743;743	ENSP00000407442:G1208D;ENSP00000409673:G1137D;ENSP00000358567:G1092D;ENSP00000358568:G1092D;ENSP00000358571:G1137D;ENSP00000358574:G1103D;ENSP00000340956:G763D;ENSP00000358566:G743D;ENSP00000384960:G743D	ENSP00000340956:G763D	G	+	2	0	HIPK1	114317434	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	7.601000	0.82783	2.752000	0.94435	0.655000	0.94253	GGT	-	HIPK1	-	NULL		0.582	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	HGNC	protein_coding	OTTHUMT00000033127.1	0	0	0	34	34	59	0.00	0.00	G	NM_198268		114515911	+1	22	34	29	33	tier1	no_errors	ENST00000369558	ensembl	human	known	74_37	missense	43.14	50.75	SNP	1.000	A	22	29
FCGBP	8857	genome.wustl.edu	37	19	40363977	40363977	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr19:40363977T>G	ENST00000221347.6	-	31	14672	c.14665A>C	c.(14665-14667)Aag>Cag	p.K4889Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4889	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCCCCAGGCTTTGGGTGGCAG	0.587													ENSG00000090920																																					0													91.0	79.0	83.0					19																	40363977		2203	4300	6503	SO:0001583	missense	0			-	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14665A>C	19.37:g.40363977T>G	ENSP00000221347:p.Lys4889Gln		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.K4889Q	ENST00000221347.6	37	c.14665	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	T	0.422	-0.907770	0.02434	.	.	ENSG00000090920	ENST00000221347	T	0.58652	0.32	5.04	-2.98	0.05513	von Willebrand factor, type D domain (3);	1.225820	0.05890	N	0.628026	T	0.38852	0.1056	N	0.13168	0.305	0.09310	N	1	B	0.24963	0.115	B	0.33960	0.173	T	0.34354	-0.9832	10	0.12430	T	0.62	.	8.5975	0.33725	0.0:0.2954:0.4158:0.2888	.	4889	Q9Y6R7	FCGBP_HUMAN	Q	4889	ENSP00000221347:K4889Q	ENSP00000221347:K4889Q	K	-	1	0	FCGBP	45055817	0.004000	0.15560	0.001000	0.08648	0.040000	0.13550	-0.088000	0.11198	-0.727000	0.04888	0.260000	0.18958	AAG	-	FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D		0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	0	0	0	58	58	104	0.00	0.00	T	NM_003890		40363977	-1	25	57	29	77	tier1	no_errors	ENST00000221347	ensembl	human	known	74_37	missense	46.30	42.54	SNP	0.000	G	25	29
FAM46A	55603	genome.wustl.edu	37	6	82459945	82459945	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr6:82459945C>G	ENST00000320172.6	-	3	1110	c.796G>C	c.(796-798)Ggc>Cgc	p.G266R	FAM46A_ENST00000369756.3_Missense_Mutation_p.G347R|FAM46A_ENST00000369754.3_Missense_Mutation_p.G285R	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	266					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TGGAAATCGCCATAGACGCTC	0.453													ENSG00000112773																																					0													70.0	75.0	73.0					6																	82459945		2203	4300	6503	SO:0001583	missense	0			-	AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"""chromosome 6 open reading frame 37"""	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.796G>C	6.37:g.82459945C>G	ENSP00000318298:p.Gly266Arg		A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	pfam_DUF1693	p.G285R	ENST00000320172.6	37	c.853	CCDS34489.1	6	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889828	0.72524	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.51574	0.7;0.7;0.7	5.95	5.95	0.96441	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78919	-0.2014	10	0.87932	D	0	-18.8827	20.3932	0.98965	0.0:1.0:0.0:0.0	.	266;285	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	R	285;266;347	ENSP00000358769:G285R;ENSP00000318298:G266R;ENSP00000358771:G347R	ENSP00000318298:G266R	G	-	1	0	FAM46A	82516664	1.000000	0.71417	0.984000	0.44739	0.730000	0.41778	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GGC	-	FAM46A	-	pfam_DUF1693		0.453	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM46A	HGNC	protein_coding	OTTHUMT00000041331.1	0	0	0	55	55	91	0.00	0.00	C			82459945	-1	21	37	23	48	tier1	no_errors	ENST00000369754	ensembl	human	known	74_37	missense	47.73	43.02	SNP	1.000	G	21	23
RXFP3	51289	genome.wustl.edu	37	5	33937261	33937261	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr5:33937261C>T	ENST00000330120.3	+	1	771	c.416C>T	c.(415-417)gCg>gTg	p.A139V		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	139					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CCCTTCTGGGCGGTGGAGAAC	0.552													ENSG00000182631																																					0													136.0	123.0	127.0					5																	33937261		2203	4300	6503	SO:0001583	missense	0			-	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.416C>T	5.37:g.33937261C>T	ENSP00000328708:p.Ala139Val		Q14DA5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.A139V	ENST00000330120.3	37	c.416	CCDS3900.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.269589	0.95429	.	.	ENSG00000182631	ENST00000330120	T	0.18338	2.22	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.052019	0.85682	N	0.000000	T	0.38026	0.1025	L	0.45422	1.42	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.04811	-1.0925	10	0.87932	D	0	-26.0635	19.8764	0.96873	0.0:1.0:0.0:0.0	.	139	Q9NSD7	RL3R1_HUMAN	V	139	ENSP00000328708:A139V	ENSP00000328708:A139V	A	+	2	0	RXFP3	33973018	1.000000	0.71417	0.960000	0.40013	0.982000	0.71751	4.902000	0.63266	2.700000	0.92200	0.650000	0.86243	GCG	-	RXFP3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt		0.552	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP3	HGNC	protein_coding	OTTHUMT00000207369.1	0	0	0	46	46	102	0.00	0.00	C	NM_016568		33937261	+1	18	40	21	64	tier1	no_errors	ENST00000330120	ensembl	human	known	74_37	missense	46.15	38.46	SNP	1.000	T	18	21
SCFD1	23256	genome.wustl.edu	37	14	31091601	31091601	+	Silent	SNP	G	G	A			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr14:31091601G>A	ENST00000458591.2	+	1	284	c.57G>A	c.(55-57)caG>caA	p.Q19Q	SCFD1_ENST00000421551.3_5'UTR|SCFD1_ENST00000396629.2_5'UTR|SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000544052.2_5'UTR	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	19					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		GGGAAAGGCAGACAGGTACTG	0.632													ENSG00000092108																																					0													87.0	62.0	71.0					14																	31091601		2116	4109	6225	SO:0001819	synonymous_variant	0			-	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.57G>A	14.37:g.31091601G>A			A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.Q19	ENST00000458591.2	37	c.57	CCDS9639.1	14																																																																																			-	SCFD1	-	superfamily_Sec1-like		0.632	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD1	HGNC	protein_coding	OTTHUMT00000276612.3	0	0	0	92	92	79	0.00	0.00	G	NM_182835		31091601	+1	35	40	44	29	tier1	no_errors	ENST00000458591	ensembl	human	known	74_37	silent	44.30	57.97	SNP	1.000	A	35	44
KDELC1	79070	genome.wustl.edu	37	13	103436678	103436678	+	3'UTR	SNP	T	T	A			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr13:103436678T>A	ENST00000376004.4	-	0	2012				KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1							endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAAATGTACTTTAAAGTACAG	0.294													ENSG00000134901																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.*167A>T	13.37:g.103436678T>A			Q53HL3|Q9BVD2	R	SNP	-	NULL	ENST00000376004.4	37	NULL	CCDS9504.1	13																																																																																			-	KDELC1	-	-		0.294	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELC1	HGNC	protein_coding	OTTHUMT00000045699.1	0	0	0	26	26	23	0.00	0.00	T			103436678	-1	10	14	14	14	tier1	no_errors	ENST00000460338	ensembl	human	known	74_37	rna	41.67	50.00	SNP	0.121	A	10	14
TRIOBP	11078	genome.wustl.edu	37	22	38155238	38155238	+	Silent	SNP	G	G	A			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr22:38155238G>A	ENST00000406386.3	+	17	6546	c.6291G>A	c.(6289-6291)gaG>gaA	p.E2097E	TRIOBP_ENST00000403663.2_Silent_p.E384E|TRIOBP_ENST00000407319.2_Silent_p.E384E	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2097					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GATCCCAGGAGGATGGCCACA	0.617													ENSG00000100106																																					0													29.0	33.0	31.0					22																	38155238		2201	4299	6500	SO:0001819	synonymous_variant	0			-	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6291G>A	22.37:g.38155238G>A			B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E2097	ENST00000406386.3	37	c.6291	CCDS43015.1	22																																																																																			-	TRIOBP	-	NULL		0.617	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	0	0	0	38	38	35	0.00	0.00	G			38155238	+1	21	19	12	22	tier1	no_errors	ENST00000406386	ensembl	human	known	74_37	silent	63.64	45.24	SNP	0.999	A	21	12
LGALS12	85329	genome.wustl.edu	37	11	63276351	63276351	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr11:63276351G>C	ENST00000394618.3	+	3	617	c.326G>C	c.(325-327)tGc>tCc	p.C109S	LGALS12_ENST00000255684.5_Missense_Mutation_p.C109S|LGALS12_ENST00000425950.2_Missense_Mutation_p.C48S|LGALS12_ENST00000415491.2_Missense_Mutation_p.C48S|LGALS12_ENST00000340246.5_Missense_Mutation_p.C110S	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	109	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CATGTCATCTGCAACACCCTG	0.602													ENSG00000133317																																					0													81.0	80.0	80.0					11																	63276351		2201	4298	6499	SO:0001583	missense	0			-	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.326G>C	11.37:g.63276351G>C	ENSP00000378116:p.Cys109Ser		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.C110S	ENST00000394618.3	37	c.329	CCDS8045.1	11	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140907	0.77775	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	T;T;T;T;T	0.18016	2.24;2.24;2.73;3.44;3.44	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000003	T	0.51109	0.1655	M	0.92507	3.315	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.87578	0.998;0.959;0.987;0.998	T	0.54111	-0.8342	10	0.22706	T	0.39	-30.4819	17.5502	0.87873	0.0:0.0:1.0:0.0	.	69;110;109;109	Q9NZ03;G5E970;Q96DT0-3;Q96DT0	.;.;.;LEG12_HUMAN	S	109;109;110;48;48	ENSP00000255684:C109S;ENSP00000378116:C109S;ENSP00000339374:C110S;ENSP00000394659:C48S;ENSP00000399093:C48S	ENSP00000255684:C109S	C	+	2	0	LGALS12	63032927	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	7.910000	0.87451	2.824000	0.97209	0.655000	0.94253	TGC	-	LGALS12	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.602	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS12	HGNC	protein_coding	OTTHUMT00000396378.1	0	0	0	49	49	58	0.00	0.00	G	NM_033101		63276351	+1	16	25	23	41	tier1	no_errors	ENST00000340246	ensembl	human	known	74_37	missense	41.03	37.88	SNP	1.000	C	16	23
HIPK1	204851	genome.wustl.edu	37	1	114512653	114512653	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr1:114512653G>C	ENST00000369558.1	+	14	3079	c.2847G>C	c.(2845-2847)ttG>ttC	p.L949F	HIPK1_ENST00000426820.2_Missense_Mutation_p.L949F|HIPK1_ENST00000340480.4_Missense_Mutation_p.L575F|HIPK1_ENST00000369561.4_Missense_Mutation_p.L915F|HIPK1_ENST00000406344.1_Missense_Mutation_p.L555F|HIPK1_ENST00000369553.1_Missense_Mutation_p.L555F|HIPK1_ENST00000369559.4_Missense_Mutation_p.L949F|HIPK1_ENST00000369554.2_Missense_Mutation_p.L904F|HIPK1_ENST00000369555.2_Missense_Mutation_p.L904F			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	949	Interaction with TP53.|Required for localization to nuclear speckles. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTCTTCTTTGAGCAGCCCTT	0.488													ENSG00000163349																																					0													188.0	194.0	192.0					1																	114512653		2203	4300	6503	SO:0001583	missense	0			-	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2847G>C	1.37:g.114512653G>C	ENSP00000358571:p.Leu949Phe		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L949F	ENST00000369558.1	37	c.2847	CCDS867.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.00|14.00	2.406165|2.406165	0.42715|0.42715	.|.	.|.	ENSG00000163349|ENSG00000163349	ENST00000361587|ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	.|T;T;T;T;T;T;T;T;T;T	.|0.24908	.|1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	.|0.230505	.|0.30329	.|N	.|0.009871	T|T	0.13628|0.13628	0.0330|0.0330	N|N	0.22421|0.22421	0.69|0.69	0.48452|0.48452	D|D	0.999658|0.999658	.|P;P;B;P	.|0.47034	.|0.889;0.812;0.435;0.703	.|P;B;B;B	.|0.46585	.|0.521;0.424;0.221;0.395	T|T	0.02789|0.02789	-1.1110|-1.1110	5|10	.|0.09590	.|T	.|0.72	.|.	20.5792|20.5792	0.99380|0.99380	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|241;555;949;949	.|E9PCF6;Q86Z02-4;Q86Z02;Q86Z02-2	.|.;.;HIPK1_HUMAN;.	Q|F	230|1020;949;949;904;904;949;915;575;555;555	.|ENSP00000407442:L1020F;ENSP00000358572:L949F;ENSP00000409673:L949F;ENSP00000358567:L904F;ENSP00000358568:L904F;ENSP00000358571:L949F;ENSP00000358574:L915F;ENSP00000340956:L575F;ENSP00000358566:L555F;ENSP00000384960:L555F	.|ENSP00000340956:L575F	E|L	+|+	1|3	0|2	HIPK1|HIPK1	114314176|114314176	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.766000|3.766000	0.55280|0.55280	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GAG|TTG	-	HIPK1	-	NULL		0.488	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	HGNC	protein_coding	OTTHUMT00000033127.1	0	0	0	79	79	94	0.00	0.00	G	NM_198268		114512653	+1	33	33	56	45	tier1	no_errors	ENST00000369558	ensembl	human	known	74_37	missense	37.08	42.31	SNP	1.000	C	33	56
UNC13A	23025	genome.wustl.edu	37	19	17740964	17740964	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr19:17740964C>T	ENST00000519716.2	-	30	3658	c.3659G>A	c.(3658-3660)cGc>cAc	p.R1220H	UNC13A_ENST00000552293.1_Missense_Mutation_p.R1220H|UNC13A_ENST00000551649.1_Missense_Mutation_p.R1220H|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1220H|UNC13A_ENST00000550896.1_Missense_Mutation_p.R1218H|UNC13A_ENST00000428389.2_Missense_Mutation_p.R1308H	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1220	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTTGGCAAAGCGCCTCATGTA	0.537													ENSG00000130477																																					0													41.0	41.0	41.0					19																	17740964		1794	3825	5619	SO:0001583	missense	0			-	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3659G>A	19.37:g.17740964C>T	ENSP00000429562:p.Arg1220His		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.R1308H	ENST00000519716.2	37	c.3923	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	c	16.65	3.180894	0.57800	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	3.01	3.01	0.34805	Munc13 homology 1 (1);	0.000000	0.64402	U	0.000004	D	0.89090	0.6616	M	0.85299	2.745	0.48236	D	0.999616	D	0.89917	1.0	D	0.79784	0.993	D	0.90314	0.4339	10	0.87932	D	0	.	11.54	0.50661	0.0:1.0:0.0:0.0	.	1220	Q9UPW8	UN13A_HUMAN	H	1220;1308;1220;1220;1220;1218	ENSP00000429562:R1220H;ENSP00000400409:R1308H;ENSP00000252773:R1220H;ENSP00000447236:R1220H;ENSP00000447572:R1220H;ENSP00000446831:R1218H	ENSP00000252773:R1220H	R	-	2	0	UNC13A	17601964	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	7.497000	0.81536	1.541000	0.49316	0.282000	0.19409	CGC	-	UNC13A	-	NULL		0.537	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	0	0	0	39	39	110	0.00	0.00	C	XM_038604		17740964	-1	12	52	32	82	tier1	no_errors	ENST00000428389	ensembl	human	known	74_37	missense	27.27	38.81	SNP	1.000	T	12	32
ATM	472	genome.wustl.edu	37	11	108159802	108159802	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr11:108159802G>T	ENST00000452508.2	+	29	4397	c.4208G>T	c.(4207-4209)aGc>aTc	p.S1403I	ATM_ENST00000278616.4_Missense_Mutation_p.S1403I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1403					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAGTTAAAAAGCATTTTAGAA	0.318			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			ENSG00000149311																											yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													55.0	54.0	55.0					11																	108159802		2201	4294	6495	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	-	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4208G>T	11.37:g.108159802G>T	ENSP00000388058:p.Ser1403Ile		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S1403I	ENST00000452508.2	37	c.4208	CCDS31669.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.50|15.50	2.851278|2.851278	0.51270|0.51270	.|.	.|.	ENSG00000149311|ENSG00000149311	ENST00000531525|ENST00000278616;ENST00000452508;ENST00000389511	.|T;T	.|0.74209	.|-0.82;-0.82	5.36|5.36	4.45|4.45	0.53987|0.53987	.|Armadillo-type fold (1);	.|0.181972	.|0.64402	.|D	.|0.000013	T|T	0.78323|0.78323	0.4265|0.4265	L|L	0.45581|0.45581	1.43|1.43	0.42471|0.42471	D|D	0.992825|0.992825	.|D;P	.|0.59767	.|0.986;0.842	.|P;B	.|0.60012	.|0.867;0.388	T|T	0.78826|0.78826	-0.2051|-0.2051	5|10	.|0.52906	.|T	.|0.07	.|.	11.1026|11.1026	0.48184|0.48184	0.1487:0.0:0.8513:0.0|0.1487:0.0:0.8513:0.0	.|.	.|55;1403	.|E7EV38;Q13315	.|.;ATM_HUMAN	S|I	73|1403;1403;55	.|ENSP00000278616:S1403I;ENSP00000388058:S1403I	.|ENSP00000278616:S1403I	A|S	+|+	1|2	0|0	ATM|ATM	107665012|107665012	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.511000|0.511000	0.34104|0.34104	2.110000|2.110000	0.41873|0.41873	1.255000|1.255000	0.44051|0.44051	0.650000|0.650000	0.86243|0.86243	GCA|AGC	-	ATM	-	superfamily_ARM-type_fold		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	0	0	0	68	68	108	0.00	0.00	G	NM_000051		108159802	+1	12	23	51	76	tier1	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	19.05	22.33	SNP	1.000	T	12	51
PRDM15	63977	genome.wustl.edu	37	21	43230531	43230531	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr21:43230531G>T	ENST00000269844.3	-	28	3839	c.3729C>A	c.(3727-3729)caC>caA	p.H1243Q	PRDM15_ENST00000398548.1_Missense_Mutation_p.H914Q|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_Missense_Mutation_p.H877Q|PRDM15_ENST00000422911.1_Missense_Mutation_p.H934Q|PRDM15_ENST00000538201.1_Missense_Mutation_p.H897Q	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TGCGCCGCATGTGTCGGCTCA	0.692													ENSG00000141956																																					0													56.0	45.0	48.0					21																	43230531		2202	4300	6502	SO:0001583	missense	0			-	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3729C>A	21.37:g.43230531G>T	ENSP00000269844:p.His1243Gln		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.H1243Q	ENST00000269844.3	37	c.3729	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	g	14.77	2.633702	0.47049	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.19806	3.03;3.03;3.03;3.03;2.12	4.11	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.27419	0.0673	N	0.24115	0.695	0.41634	D	0.989034	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.997;0.996;0.998	T	0.05225	-1.0898	9	0.87932	D	0	-25.0433	7.1848	0.25793	0.3745:0.0:0.6255:0.0	.	1243;934;914	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Q	934;914;897;877;1243	ENSP00000408592:H934Q;ENSP00000381556:H914Q;ENSP00000444044:H897Q;ENSP00000390245:H877Q;ENSP00000269844:H1243Q	ENSP00000269844:H1243Q	H	-	3	2	PRDM15	42103600	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	1.874000	0.39568	0.679000	0.31345	0.306000	0.20318	CAC	-	PRDM15	-	smart_Znf_C2H2-like		0.692	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		0	0	0	29	29	11	0.00	0.00	G	NM_022115		43230531	-1	4	2	22	15	tier1	no_errors	ENST00000269844	ensembl	human	known	74_37	missense	15.38	11.76	SNP	1.000	T	4	22
ACOT13	55856	genome.wustl.edu	37	6	24687908	24687908	+	Intron	DEL	A	A	-			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr6:24687908delA	ENST00000230048.4	+	2	274				ACOT13_ENST00000537591.1_5'UTR|ACOT13_ENST00000476436.1_3'UTR	NM_018473.3	NP_060943.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13						metabolic process (GO:0008152)|protein homotetramerization (GO:0051289)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA hydrolase activity (GO:0047617)			large_intestine(1)	1						AAGAAGACAGAAATGGTTAGA	0.363													ENSG00000112304																																					0													187.0	171.0	176.0					6																	24687908		692	1591	2283	SO:0001627	intron_variant	0				AF220186	CCDS4558.1, CCDS54972.1	6p22.1	2009-11-20	2009-05-05	2009-05-05	ENSG00000112304	ENSG00000112304		"""Acyl CoA thioesterases"""	20999	protein-coding gene	gene with protein product		615652	"""thioesterase superfamily member 2"""	THEM2		16934754, 19405909	Standard	NM_018473		Approved	HT012	uc003nek.3	Q9NPJ3	OTTHUMG00000014359	ENST00000230048.4:c.82-10203A>-	6.37:g.24687908delA			F5H2L4|O95549	R	DEL	-	NULL	ENST00000230048.4	37	NULL	CCDS4558.1	6																																																																																				ACOT13	-	-		0.363	ACOT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT13	HGNC	protein_coding	OTTHUMT00000040010.2	0	0	0	24	24	34	0.00	0.00	A	NM_018473		24687908	+1	12	10	18	23	tier1	no_errors	ENST00000476436	ensembl	human	known	74_37	rna	40.00	30.30	DEL	0.636	-	12	18
ARFGEF1	10565	genome.wustl.edu	37	8	68172143	68172144	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	-	-	-	TT	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr8:68172143_68172144insTT	ENST00000262215.3	-	15	2530_2531	c.2141_2142insAA	c.(2140-2142)aagfs	p.K714fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.K168fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	714	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTATTCCTCTCTTTGGTTTCTT	0.342													ENSG00000066777																																					0																																										SO:0001589	frameshift_variant	0				AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2140_2141dupAA	8.37:g.68172144_68172145dupTT	ENSP00000262215:p.Lys714fs		Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Ins	INS	pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.G716fs	ENST00000262215.3	37	c.2142_2141	CCDS6199.1	8																																																																																				ARFGEF1	-	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom		0.342	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	0	0	0	84	84	121	0.00	0.00	-	NM_006421		68172144	-1	23	45	36	81	tier1	no_errors	ENST00000262215	ensembl	human	known	74_37	frame_shift_ins	38.98	35.71	INS	1.000:1.000	TT	23	36
ATM	472	genome.wustl.edu	37	11	108159797	108159797	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr11:108159797delA	ENST00000452508.2	+	29	4392	c.4203delA	c.(4201-4203)ttafs	p.L1401fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.L1401fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1401					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAACCAAGTTAAAAAGCATTT	0.318			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			ENSG00000149311																											yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													58.0	57.0	57.0					11																	108159797		2201	4294	6495	SO:0001589	frameshift_variant	0	Familial Cancer Database	AT, Louis-Bar syndrome		AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4203delA	11.37:g.108159797delA	ENSP00000388058:p.Leu1401fs		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S1403fs	ENST00000452508.2	37	c.4203	CCDS31669.1	11																																																																																				ATM	-	superfamily_ARM-type_fold		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	0	0	0	71	71	113	0.00	0.00	A	NM_000051		108159797	+1	12	22	51	77	tier1	no_errors	ENST00000278616	ensembl	human	known	74_37	frame_shift_del	19.05	22.22	DEL	0.201	-	12	51
GSTA5	221357	genome.wustl.edu	37	6	52705543	52705543	+	Silent	SNP	C	C	G			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr6:52705543C>G	ENST00000370989.2	-	1	98	c.69G>C	c.(67-69)ctG>ctC	p.L23L	GSTA5_ENST00000284562.2_Silent_p.L23L|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	23	GST N-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CAGCTGCAGCCAGGAGCCACC	0.473													ENSG00000182793																																					0													115.0	109.0	111.0					6																	52705543		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.69G>C	6.37:g.52705543C>G			Q5SZC2	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.L23	ENST00000370989.2	37	c.69	CCDS4946.1	6																																																																																			-	GSTA5	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold,prints_GST_alpha		0.473	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA5	HGNC	protein_coding	OTTHUMT00000040917.1	0	0	0	67	67	19	0.00	0.00	C	NM_153699		52705543	-1	18	9	31	8	tier1	no_errors	ENST00000284562	ensembl	human	known	74_37	silent	36.73	52.94	SNP	1.000	G	18	31
PCNXL3	399909	genome.wustl.edu	37	11	65402801	65402801	+	Missense_Mutation	SNP	G	G	A	rs375106937		TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr11:65402801G>A	ENST00000355703.3	+	31	5605	c.5066G>A	c.(5065-5067)aGc>aAc	p.S1689N	SIPA1_ENST00000534313.1_5'Flank|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1689						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCATGGCGCAGCGCCATCCTC	0.612													ENSG00000197136																																					0								G	ASN/SER	0,4124		0,0,2062	23.0	24.0	24.0		5066	4.0	1.0	11		24	1,8353		0,1,4176	no	missense	PCNXL3	NM_032223.2	46	0,1,6238	AA,AG,GG		0.012,0.0,0.0080	probably-damaging	1689/2035	65402801	1,12477	2062	4177	6239	SO:0001583	missense	0			-	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5066G>A	11.37:g.65402801G>A	ENSP00000347931:p.Ser1689Asn		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.S1689N	ENST00000355703.3	37	c.5066	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494225	0.44352	0.0	1.2E-4	ENSG00000197136	ENST00000355703	T	0.42131	0.98	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	N	0.12637	0.245	0.37096	D	0.899669	B;D	0.58268	0.038;0.982	B;P	0.54629	0.062;0.757	T	0.25328	-1.0135	10	0.19590	T	0.45	.	13.7058	0.62639	0.0:0.0:1.0:0.0	.	576;1689	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	N	1689	ENSP00000347931:S1689N	ENSP00000347931:S1689N	S	+	2	0	PCNXL3	65159377	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	5.827000	0.69300	2.097000	0.63578	0.462000	0.41574	AGC	-	PCNXL3	-	pfam_Pecanex		0.612	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	0	0	0	10	10	5	0.00	0.00	G	NM_032223		65402801	+1	9	3	14	6	tier1	no_errors	ENST00000355703	ensembl	human	known	74_37	missense	39.13	33.33	SNP	1.000	A	9	14
TP53	7157	genome.wustl.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr17:7577114C>T	ENST00000269305.4	-	8	1013	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_ENST00000420246.2_Missense_Mutation_p.C275Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C275Y|TP53_ENST00000445888.2_Missense_Mutation_p.C275Y	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	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	AGGACAGGCACAAACACGCAC	0.552		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)			ENSG00000141510																									Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	GRCh37	CM076568|CM951234	TP53	M							71.0	61.0	64.0					17																	7577114		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.824G>A	17.37:g.7577114C>T	ENSP00000269305:p.Cys275Tyr		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_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C275Y	ENST00000269305.4	37	c.824	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605675	0.87157	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	4.92	4.92	0.64577	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	0.99883	0.9944	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.997;0.997	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	275;275;275;275;275;264;143	ENSP00000352610:C275Y;ENSP00000269305:C275Y;ENSP00000398846:C275Y;ENSP00000391127:C275Y;ENSP00000391478:C275Y;ENSP00000425104:C143Y	ENSP00000269305:C275Y	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT	-	TP53	-	pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	0	0	0	51	51	113	0.00	0.00	C	NM_000546		7577114	-1	19	51	3	4	tier1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	82.61	89.47	SNP	1.000	T	19	3
FAM230C	26080	genome.wustl.edu	37	22	21663186	21663187	+	lincRNA	INS	-	-	TAGCGA			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr22:21663186_21663187insTAGCGA	ENST00000436681.1	-	0	983_984																											GGCATCCTCCTTGGCGATGCCC	0.743													ENSG00000206142																																					0																																												0																																22.37:g.21663186_21663187insTAGCGA				R	INS	-	NULL	ENST00000436681.1	37	NULL		22																																																																																				KB-1183D5.13	-	-		0.743	KB-1183D5.13-003	KNOWN	basic	lincRNA	FAM230C	Clone_based_vega_gene	lincRNA	OTTHUMT00000320109.1	0	0	0	0	0	0	0.00	0.00	-			21663187	-1	0	0	2	2	tier1	no_errors	ENST00000436681	ensembl	human	known	74_37	rna	0.00	0.00	INS	0.002:0.008	TAGCGA	0	2
FAM86B2	653333	genome.wustl.edu	37	8	12293822	12293822	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr8:12293822G>T	ENST00000262365.4	-	1	30	c.31C>A	c.(31-33)Ctc>Atc	p.L11I	FAM86B2_ENST00000393715.3_5'UTR|FAM86B2_ENST00000309608.5_Missense_Mutation_p.L11I|FAM86B2_ENST00000351291.4_Missense_Mutation_p.L11I	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	11										endometrium(1)|kidney(2)	3						TGCAGCAAGAGTTCGGTCCCC	0.731													ENSG00000145002																																					0													1.0	2.0	2.0					8																	12293822		104	543	647	SO:0001583	missense	0			-		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.31C>A	8.37:g.12293822G>T	ENSP00000262365:p.Leu11Ile			Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.L11I	ENST00000262365.4	37	c.31	CCDS59092.1	8	.	.	.	.	.	.	.	.	.	.	g	13.72	2.320011	0.41096	.	.	ENSG00000145002	ENST00000262365;ENST00000351291;ENST00000309608;ENST00000527331;ENST00000532480	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	0.893	0.893	0.19236	.	7779.730000	0.00789	U	0.001326	T	0.16085	0.0387	L	0.43152	1.355	0.09310	N	1	B	0.20780	0.048	B	0.15484	0.013	T	0.22068	-1.0227	10	0.37606	T	0.19	.	5.1414	0.14961	0.0:0.0:1.0:0.0	.	11	P0C5J1	F86B2_HUMAN	I	11	ENSP00000262365:L11I;ENSP00000283479:L11I;ENSP00000311330:L11I;ENSP00000432491:L11I;ENSP00000436338:L11I	ENSP00000262365:L11I	L	-	1	0	FAM86B2	12338193	0.000000	0.05858	0.015000	0.15790	0.038000	0.13279	-1.695000	0.01913	0.768000	0.33290	0.162000	0.16502	CTC	-	FAM86B2	-	NULL		0.731	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM86B2	HGNC	protein_coding		0	0	0	50	50	2	0.00	0.00	G	XM_928336		12293822	-1	8	0	36	1	tier1	no_errors	ENST00000262365	ensembl	human	known	74_37	missense	18.18	0.00	SNP	0.397	T	8	36
CLCN1	1180	genome.wustl.edu	37	7	143042676	143042676	+	Silent	SNP	C	C	T			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr7:143042676C>T	ENST00000343257.2	+	17	2080	c.1993C>T	c.(1993-1995)Ctg>Ttg	p.L665L		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	665	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCAGCGCCACCTGTGTCCTGA	0.687											OREG0018402	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000188037																																					0													14.0	11.0	12.0					7																	143042676		2127	4159	6286	SO:0001819	synonymous_variant	0			-	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1993C>T	7.37:g.143042676C>T		1676	A4D2H5|Q2M202	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1	p.L665	ENST00000343257.2	37	c.1993	CCDS5881.1	7																																																																																			-	CLCN1	-	NULL		0.687	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	HGNC	protein_coding	OTTHUMT00000327420.1	0	0	0	174	174	4	0.00	0.00	C	NM_000083		143042676	+1	62	2	87	3	tier1	no_errors	ENST00000343257	ensembl	human	known	74_37	silent	41.61	40.00	SNP	0.998	T	62	87
