#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
OR2H1	26716	genome.wustl.edu	37	6	29430039	29430039	+	Missense_Mutation	SNP	C	C	G			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr6:29430039C>G	ENST00000377136.1	+	4	958	c.493C>G	c.(493-495)Ccc>Gcc	p.P165A	OR2H1_ENST00000396792.2_Missense_Mutation_p.P165A|OR2H1_ENST00000442615.1_Missense_Mutation_p.P165A|OR2H1_ENST00000377132.1_Missense_Mutation_p.P165A|OR2H1_ENST00000377133.1_Missense_Mutation_p.P165A|OR2H1_ENST00000473369.1_3'UTR			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						CCTCCACTTGCCCTTCTGTCC	0.532													ENSG00000204688																																					0													206.0	217.0	213.0					6																	29430039		1509	2709	4218	SO:0001583	missense	0			-	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.493C>G	6.37:g.29430039C>G	ENSP00000366340:p.Pro165Ala		B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P165A	ENST00000377136.1	37	c.493	CCDS4660.1	6	.	.	.	.	.	.	.	.	.	.	C	5.636	0.302029	0.10678	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.00179	8.61;8.61;8.61;8.61;8.61	2.81	0.972	0.19704	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001137	T	0.00210	0.0006	M	0.82630	2.6	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44817	-0.9303	10	0.72032	D	0.01	.	3.3951	0.07303	0.0:0.3696:0.2061:0.4243	.	165	Q9GZK4	OR2H1_HUMAN	A	165	ENSP00000366340:P165A;ENSP00000366337:P165A;ENSP00000393254:P165A;ENSP00000366336:P165A;ENSP00000380010:P165A	ENSP00000366336:P165A	P	+	1	0	OR2H1	29538018	0.000000	0.05858	0.275000	0.24674	0.005000	0.04900	-0.802000	0.04545	0.243000	0.21327	-0.199000	0.12753	CCC	-	OR2H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.532	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2H1	HGNC	protein_coding	OTTHUMT00000194014.3	0	0	0	37	37	97	0.00	0.00	C			29430039	+1	16	44	36	80	tier1	no_errors	ENST00000377132	ensembl	human	known	74_37	missense	30.77	35.20	SNP	0.003	G	16	36
OR4C15	81309	genome.wustl.edu	37	11	55322430	55322430	+	Silent	SNP	T	T	C			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr11:55322430T>C	ENST00000314644.2	+	1	648	c.648T>C	c.(646-648)acT>acC	p.T216T		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTCTTTTTACTTTCCAGCTTC	0.473										HNSCC(20;0.049)			ENSG00000181939																																					0													85.0	76.0	79.0					11																	55322430		2201	4296	6497	SO:0001819	synonymous_variant	0			-	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.648T>C	11.37:g.55322430T>C			Q6IFE2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T216	ENST00000314644.2	37	c.648	CCDS31501.1	11																																																																																			-	OR4C15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	0	0	0	51	51	126	0.00	0.00	T	NM_001001920		55322430	+1	7	36	37	110	tier1	no_errors	ENST00000314644	ensembl	human	known	74_37	silent	15.91	24.66	SNP	0.000	C	7	37
ZSCAN30	100101467	genome.wustl.edu	37	18	32833487	32833487	+	Missense_Mutation	SNP	C	C	G			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr18:32833487C>G	ENST00000420878.3	-	5	1867	c.1412G>C	c.(1411-1413)tGt>tCt	p.C471S	ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000355632.4_Intron|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.C471S|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000261333.6_Intron	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	471					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(3)|urinary_tract(1)	9						ACATTCACTACATTCATAAGG	0.418													ENSG00000186814																																					0													128.0	112.0	117.0					18																	32833487		1568	3582	5150	SO:0001583	missense	0			-	AY234408	CCDS42427.1, CCDS74207.1	18q12.2	2013-01-08	2010-07-23	2010-07-23	ENSG00000186814	ENSG00000186814		"""-"", ""Zinc fingers, C2H2-type"""	33517	protein-coding gene	gene with protein product			"""zinc finger protein 397 opposite strand"", ""ZNF397 opposite strand"""	ZNF397OS		12801647	Standard	NM_001166012		Approved	ZNF917	uc002kym.3	Q86W11		ENST00000420878.3:c.1412G>C	18.37:g.32833487C>G	ENSP00000392371:p.Cys471Ser		B4E0N0|Q6ZNB3|Q96PN3	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.C471S	ENST00000420878.3	37	c.1412	CCDS42427.1	18	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328856	0.81690	.	.	ENSG00000186814	ENST00000420878;ENST00000333206;ENST00000360932	D;D	0.85171	-1.95;-1.95	4.19	4.19	0.49359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39146	N	0.001455	D	0.94311	0.8172	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95700	0.8748	10	0.87932	D	0	.	14.408	0.67096	0.0:1.0:0.0:0.0	.	471	Q86W11	ZSC30_HUMAN	S	471;471;406	ENSP00000392371:C471S;ENSP00000329738:C471S	ENSP00000329738:C471S	C	-	2	0	ZSCAN30	31087485	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.226000	0.78060	2.325000	0.78763	0.655000	0.94253	TGT	-	ZSCAN30	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZSCAN30	HGNC	protein_coding	OTTHUMT00000442510.1	0	0	0	73	73	53	0.00	0.00	C	NM_001112734		32833487	-1	26	30	59	34	tier1	no_errors	ENST00000333206	ensembl	human	known	74_37	missense	30.59	46.88	SNP	0.999	G	26	59
CORIN	10699	genome.wustl.edu	37	4	47625659	47625659	+	Silent	SNP	G	G	A			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr4:47625659G>A	ENST00000273857.4	-	19	2468	c.2469C>T	c.(2467-2469)ccC>ccT	p.P823P	CORIN_ENST00000505909.1_Silent_p.P786P|CORIN_ENST00000502252.1_Silent_p.P756P|CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000508498.1_Silent_p.P684P	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	823	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TATGTCCACTGGGTTCACTCT	0.562													ENSG00000145244																																					0													109.0	105.0	106.0					4																	47625659		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2469C>T	4.37:g.47625659G>A			B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.P823	ENST00000273857.4	37	c.2469	CCDS3477.1	4																																																																																			-	CORIN	-	pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.562	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	HGNC	protein_coding	OTTHUMT00000216906.2	0	0	0	49	49	63	0.00	0.00	G			47625659	-1	8	26	24	61	tier1	no_errors	ENST00000273857	ensembl	human	known	74_37	silent	25.00	29.89	SNP	0.990	A	8	24
C9orf43	257169	genome.wustl.edu	37	9	116176117	116176117	+	Missense_Mutation	SNP	C	C	T			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr9:116176117C>T	ENST00000288462.4	+	3	676	c.230C>T	c.(229-231)aCt>aTt	p.T77I	C9orf43_ENST00000374165.1_Missense_Mutation_p.T77I|C9orf43_ENST00000490544.1_3'UTR	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	77										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGTACCTTTACTAAGGCCCAT	0.398													ENSG00000157653																																					0													100.0	92.0	95.0					9																	116176117		2203	4300	6503	SO:0001583	missense	0			-	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.230C>T	9.37:g.116176117C>T	ENSP00000288462:p.Thr77Ile			Missense_Mutation	SNP	NULL	p.T77I	ENST00000288462.4	37	c.230	CCDS6796.1	9	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346180	0.41599	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.52057	0.68;0.68	5.22	1.09	0.20402	.	0.793410	0.11034	N	0.606925	T	0.35653	0.0939	L	0.29908	0.895	0.09310	N	1	P	0.47677	0.899	P	0.45681	0.49	T	0.19745	-1.0296	10	0.62326	D	0.03	-0.0532	3.5717	0.07920	0.1657:0.424:0.3215:0.0888	.	77	Q8TAL5	CI043_HUMAN	I	77	ENSP00000363280:T77I;ENSP00000288462:T77I	ENSP00000288462:T77I	T	+	2	0	C9orf43	115215938	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.152000	0.10159	0.352000	0.24053	-0.302000	0.09304	ACT	-	C9orf43	-	NULL		0.398	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	HGNC	protein_coding	OTTHUMT00000053739.1	0	0	0	144	144	129	0.00	0.00	C	NM_152786		116176117	+1	41	32	85	111	tier1	no_errors	ENST00000288462	ensembl	human	known	74_37	missense	32.54	22.38	SNP	0.000	T	41	85
NAV1	89796	genome.wustl.edu	37	1	201786318	201786318	+	Missense_Mutation	SNP	C	C	T			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr1:201786318C>T	ENST00000367296.4	+	29	5863	c.5443C>T	c.(5443-5445)Ccc>Tcc	p.P1815S	NAV1_ENST00000295624.6_Missense_Mutation_p.P1812S|NAV1_ENST00000367302.1_Missense_Mutation_p.P1768S|NAV1_ENST00000367297.4_Missense_Mutation_p.P1807S|NAV1_ENST00000367300.3_Missense_Mutation_p.P1755S|IPO9-AS1_ENST00000421449.1_RNA|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.P1421S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1815					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GTACCACCTGCCCCCACCCAC	0.587													ENSG00000134369																																					0													93.0	81.0	85.0					1																	201786318		2203	4300	6503	SO:0001583	missense	0			-	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.5443C>T	1.37:g.201786318C>T	ENSP00000356265:p.Pro1815Ser		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P1815S	ENST00000367296.4	37	c.5443	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310663	0.81358	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	T;T;T;T;T;T	0.07021	3.3;3.23;3.23;3.23;3.3;3.25	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	L	0.57536	1.79	0.49213	D	0.999769	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00138	-1.2002	10	0.38643	T	0.18	-39.5236	19.1379	0.93435	0.0:1.0:0.0:0.0	.	1421;1812	Q8NEY1-5;Q8NEY1-3	.;.	S	1768;1815;1812;1807;1755;1421	ENSP00000356271:P1768S;ENSP00000356265:P1815S;ENSP00000295624:P1812S;ENSP00000356266:P1807S;ENSP00000356269:P1755S;ENSP00000356264:P1421S	ENSP00000295624:P1812S	P	+	1	0	NAV1	200052941	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.815000	0.69215	2.618000	0.88619	0.650000	0.86243	CCC	-	V1	-	NULL		0.587	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	V1	HGNC	protein_coding	OTTHUMT00000087013.1	0	0	0	35	35	94	0.00	0.00	C	NM_020443		201786318	+1	14	27	13	58	tier1	no_errors	ENST00000367296	ensembl	human	known	74_37	missense	51.85	31.76	SNP	1.000	T	14	13
SPTBN4	57731	genome.wustl.edu	37	19	41063133	41063133	+	Missense_Mutation	SNP	G	G	A			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr19:41063133G>A	ENST00000352632.3	+	26	5580	c.5494G>A	c.(5494-5496)Gcc>Acc	p.A1832T	SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1832T|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A508T|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A575T|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1832T|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1832T			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1832					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGCTGGCCGCCTCTCGGGA	0.657													ENSG00000160460																																					0													23.0	27.0	26.0					19																	41063133		2203	4296	6499	SO:0001583	missense	0			-	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5494G>A	19.37:g.41063133G>A	ENSP00000263373:p.Ala1832Thr		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A1832T	ENST00000352632.3	37	c.5494	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659632	0.88154	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	3.63	3.63	0.41609	.	0.000000	0.64402	D	0.000007	T	0.56963	0.2021	M	0.70108	2.13	0.48696	D	0.999691	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.926;0.912;0.974;1.0	T	0.57493	-0.7802	10	0.34782	T	0.22	.	14.5979	0.68419	0.0:0.0:1.0:0.0	.	575;508;1832;1832	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	T	1832;1832;1832;575;508	ENSP00000263373:A1832T;ENSP00000340345:A1832T;ENSP00000375879:A575T;ENSP00000375877:A508T	ENSP00000340345:A1832T	A	+	1	0	SPTBN4	45754973	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	7.587000	0.82613	2.036000	0.60181	0.455000	0.32223	GCC	-	SPTBN4	-	pirsf_Spectrin_bsu		0.657	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	0	0	0	25	25	20	0.00	0.00	G			41063133	+1	9	8	18	20	tier1	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	33.33	28.57	SNP	0.999	A	9	18
NRXN1	9378	genome.wustl.edu	37	2	50779907	50779907	+	Missense_Mutation	SNP	T	T	G			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr2:50779907T>G	ENST00000406316.2	-	9	3053	c.1577A>C	c.(1576-1578)cAt>cCt	p.H526P	NRXN1_ENST00000401669.2_Missense_Mutation_p.H526P|NRXN1_ENST00000406859.3_Missense_Mutation_p.H526P|NRXN1_ENST00000405472.3_Missense_Mutation_p.H518P|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Missense_Mutation_p.H566P|NRXN1_ENST00000402717.3_Missense_Mutation_p.H518P	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	526	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATCTTTCTGATGTCTTGGCTT	0.458													ENSG00000179915																																					0													160.0	150.0	153.0					2																	50779907		1925	4118	6043	SO:0001583	missense	0			-	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1577A>C	2.37:g.50779907T>G	ENSP00000384311:p.His526Pro		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.H518P	ENST00000406316.2	37	c.1553	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722109	0.48728	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.93	5.93	0.95920	.	0.050311	0.85682	D	0.000000	T	0.52338	0.1728	N	0.16743	0.435	0.41900	D	0.990413	B;B;B	0.11235	0.0;0.0;0.004	B;B;B	0.09377	0.003;0.001;0.004	T	0.46707	-0.9172	10	0.30078	T	0.28	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	566;526;518	Q9ULB1-3;F8WB18;A7E294	.;.;.	P	566;526;518;526;567;518;526	ENSP00000385142:H566P;ENSP00000384311:H526P;ENSP00000434015:H518P;ENSP00000385017:H526P;ENSP00000385434:H518P;ENSP00000385681:H526P	ENSP00000385017:H526P	H	-	2	0	NRXN1	50633411	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.040000	0.89188	2.270000	0.75569	0.482000	0.46254	CAT	-	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.458	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	0	0	0	61	61	127	0.00	0.00	T			50779907	-1	15	53	46	104	tier1	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	24.59	33.54	SNP	1.000	G	15	46
L3MBTL4	91133	genome.wustl.edu	37	18	6311562	6311562	+	Silent	SNP	G	G	A			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr18:6311562G>A	ENST00000284898.6	-	3	263	c.63C>T	c.(61-63)gaC>gaT	p.D21D	L3MBTL4_ENST00000400105.2_Silent_p.D21D|L3MBTL4_ENST00000400104.3_Silent_p.D21D|L3MBTL4_ENST00000317931.7_Silent_p.D21D	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	21					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CCAAGCGTCCGTCCTGATCCA	0.483													ENSG00000154655																									Esophageal Squamous(41;748 902 17366 28959 43175)												0													317.0	284.0	295.0					18																	6311562		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.63C>T	18.37:g.6311562G>A			A8MTL8|Q8IXS3	Silent	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.D21	ENST00000284898.6	37	c.63	CCDS11839.2	18																																																																																			-	L3MBTL4	-	NULL		0.483	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	0	0	0	54	54	102	0.00	0.00	G	NM_173464		6311562	-1	20	42	42	92	tier1	no_errors	ENST00000284898	ensembl	human	known	74_37	silent	32.26	31.34	SNP	0.002	A	20	42
SCGN	10590	genome.wustl.edu	37	6	25701446	25701446	+	Silent	SNP	C	C	T			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr6:25701446C>T	ENST00000377961.2	+	11	882	c.714C>T	c.(712-714)agC>agT	p.S238S	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	238						cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCAGCATCAGCGGGGTGGACC	0.512													ENSG00000079689																																					0													97.0	84.0	89.0					6																	25701446		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.714C>T	6.37:g.25701446C>T			A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Silent	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.S238	ENST00000377961.2	37	c.714	CCDS4561.1	6																																																																																			-	SCGN	-	NULL		0.512	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGN	HGNC	protein_coding	OTTHUMT00000040067.1	0	0	0	69	69	112	0.00	0.00	C			25701446	+1	19	43	38	79	tier1	no_errors	ENST00000377961	ensembl	human	known	74_37	silent	33.33	35.25	SNP	0.384	T	19	38
VPS13C	54832	genome.wustl.edu	37	15	62234169	62234169	+	Missense_Mutation	SNP	T	T	C	rs141806515		TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr15:62234169T>C	ENST00000261517.5	-	46	5319	c.5246A>G	c.(5245-5247)cAa>cGa	p.Q1749R	VPS13C_ENST00000249837.3_Missense_Mutation_p.Q1706R|VPS13C_ENST00000395896.4_Missense_Mutation_p.Q1749R|VPS13C_ENST00000395898.3_Missense_Mutation_p.Q1706R	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAAACTCTTTTGAGCCAAGTC	0.413													ENSG00000129003																																					0													69.0	71.0	70.0					15																	62234169		2203	4300	6503	SO:0001583	missense	0			-	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.5246A>G	15.37:g.62234169T>C	ENSP00000261517:p.Gln1749Arg			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.Q1749R	ENST00000261517.5	37	c.5246	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	T	15.18	2.757442	0.49468	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.14144	2.53;2.53;2.53	5.09	5.09	0.68999	.	0.128237	0.53938	D	0.000057	T	0.21145	0.0509	M	0.70595	2.14	0.58432	D	0.999994	B;B;B;B	0.18166	0.012;0.026;0.013;0.017	B;B;B;B	0.27608	0.055;0.081;0.042;0.028	T	0.02257	-1.1187	10	0.48119	T	0.1	.	15.1562	0.72743	0.0:0.0:0.0:1.0	.	1706;1749;1706;1749	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	R	1706;1749;1749;1749	ENSP00000249837:Q1706R;ENSP00000261517:Q1749R;ENSP00000379233:Q1749R	ENSP00000249837:Q1706R	Q	-	2	0	VPS13C	60021461	1.000000	0.71417	0.971000	0.41717	0.959000	0.62525	7.592000	0.82676	2.048000	0.60808	0.533000	0.62120	CAA	-	VPS13C	-	NULL		0.413	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	0	0	0	33	33	107	0.00	0.00	T	NM_017684		62234169	-1	27	163	12	53	tier1	no_errors	ENST00000261517	ensembl	human	known	74_37	missense	69.23	75.12	SNP	0.999	C	27	12
TRHDE	29953	genome.wustl.edu	37	12	72863625	72863625	+	Missense_Mutation	SNP	C	C	A			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr12:72863625C>A	ENST00000261180.4	+	4	1364	c.1268C>A	c.(1267-1269)cCc>cAc	p.P423H		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	423					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTGCTGGATCCCAGTGTTTCA	0.378													ENSG00000072657																																					0													159.0	161.0	161.0					12																	72863625		2203	4300	6503	SO:0001583	missense	0			-	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1268C>A	12.37:g.72863625C>A	ENSP00000261180:p.Pro423His		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.P423H	ENST00000261180.4	37	c.1268	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467738	0.63625	.	.	ENSG00000072657	ENST00000261180	T	0.05996	3.36	5.87	4.99	0.66335	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.165791	0.53938	D	0.000047	T	0.30978	0.0782	M	0.90309	3.105	0.58432	D	0.999999	D	0.76494	0.999	D	0.64042	0.921	T	0.40757	-0.9546	10	0.72032	D	0.01	.	17.2641	0.87081	0.0:0.8744:0.1256:0.0	.	423	Q9UKU6	TRHDE_HUMAN	H	423	ENSP00000261180:P423H	ENSP00000261180:P423H	P	+	2	0	TRHDE	71149892	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	6.068000	0.71201	1.504000	0.48704	-0.133000	0.14855	CCC	-	TRHDE	-	pfam_Peptidase_M1_N		0.378	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	0	0	0	99	99	73	0.00	0.00	C	NM_013381		72863625	+1	276	260	329	419	tier1	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	45.62	38.24	SNP	1.000	A	276	329
ADD1	118	genome.wustl.edu	37	4	2930211	2930211	+	Silent	SNP	G	G	A			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr4:2930211G>A	ENST00000398129.1	+	14	2195	c.2175G>A	c.(2173-2175)ccG>ccA	p.P725P	ADD1_ENST00000446856.1_Silent_p.P725P|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000264758.7_Silent_p.P756P|ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000355842.3_3'UTR			P35611	ADDA_HUMAN	adducin 1 (alpha)	725	Interaction with calmodulin. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCGTACCCCGTCCTTTCTGA	0.627													ENSG00000087274																									Esophageal Squamous(71;505 1201 20414 34538 37449)												0													62.0	76.0	71.0					4																	2930211		2203	4300	6503	SO:0001819	synonymous_variant	0			-	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.2175G>A	4.37:g.2930211G>A			A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Silent	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.P756	ENST00000398129.1	37	c.2268	CCDS43205.1	4																																																																																			-	ADD1	-	NULL		0.627	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	0	0	0	29	29	66	0.00	0.00	G	NM_014189		2930211	+1	19	45	21	63	tier1	no_errors	ENST00000264758	ensembl	human	known	74_37	silent	47.50	41.28	SNP	0.886	A	19	21
FAT1	2195	genome.wustl.edu	37	4	187630453	187630453	+	Missense_Mutation	SNP	C	C	T			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr4:187630453C>T	ENST00000441802.2	-	2	738	c.529G>A	c.(529-531)Gac>Aac	p.D177N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	177	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTCCTATGTCTGCATCCGTG	0.438										HNSCC(5;0.00058)			ENSG00000083857																									Colon(197;1040 2055 4143 4984 49344)												0													166.0	171.0	169.0					4																	187630453		2166	4280	6446	SO:0001583	missense	0			-	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.529G>A	4.37:g.187630453C>T	ENSP00000406229:p.Asp177Asn			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.D177N	ENST00000441802.2	37	c.529	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728160	0.89390	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.74002	-0.8;-0.8	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90909	0.7143	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93250	0.6634	10	0.66056	D	0.02	.	18.5053	0.90894	0.0:1.0:0.0:0.0	.	177	Q14517	FAT1_HUMAN	N	177	ENSP00000406229:D177N;ENSP00000423736:D177N	ENSP00000260147:D177N	D	-	1	0	FAT1	187867447	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.651000	0.83577	2.704000	0.92352	0.591000	0.81541	GAC	-	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	0	0	0	78	78	89	0.00	0.00	C	NM_005245		187630453	-1	17	35	53	92	tier1	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	24.29	27.56	SNP	1.000	T	17	53
USH1C	10083	genome.wustl.edu	37	11	17554814	17554814	+	Missense_Mutation	SNP	C	C	T			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr11:17554814C>T	ENST00000318024.4	-	2	200	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	USH1C_ENST00000527020.1_Missense_Mutation_p.R31Q|USH1C_ENST00000005226.7_Missense_Mutation_p.R31Q|USH1C_ENST00000527720.1_5'UTR	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	31	N-terminal domain.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GTGGTACATTCGCAGCACATC	0.507													ENSG00000006611																																					0													122.0	112.0	115.0					11																	17554814		2200	4293	6493	SO:0001583	missense	0			-	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.92G>A	11.37:g.17554814C>T	ENSP00000317018:p.Arg31Gln		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R31Q	ENST00000318024.4	37	c.92	CCDS31438.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.368226	0.95900	.	.	ENSG00000006611	ENST00000318024;ENST00000527020;ENST00000005226;ENST00000526181	T;T;T;T	0.28454	1.71;1.94;1.61;2.16	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.45895	0.1365	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.978;0.978	T	0.42155	-0.9468	10	0.54805	T	0.06	.	17.2118	0.86932	0.0:1.0:0.0:0.0	.	31;31;31	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	Q	31;31;31;42	ENSP00000317018:R31Q;ENSP00000436934:R31Q;ENSP00000005226:R31Q;ENSP00000437128:R42Q	ENSP00000005226:R31Q	R	-	2	0	USH1C	17511390	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.814000	0.75236	2.345000	0.79718	0.491000	0.48974	CGA	-	USH1C	-	NULL		0.507	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	HGNC	protein_coding	OTTHUMT00000389146.1	0	0	0	10	10	58	0.00	0.00	C	NM_005709		17554814	-1	7	38	11	67	tier1	no_errors	ENST00000005226	ensembl	human	known	74_37	missense	38.89	36.19	SNP	1.000	T	7	11
DPF2	5977	genome.wustl.edu	37	11	65111502	65111502	+	Missense_Mutation	SNP	C	C	G			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr11:65111502C>G	ENST00000528416.1	+	6	732	c.599C>G	c.(598-600)tCc>tGc	p.S200C	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.S200C	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	200					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CTGGATGCTTCCATCCTGGAG	0.557													ENSG00000133884																																					0													83.0	76.0	78.0					11																	65111502		2201	4297	6498	SO:0001583	missense	0			-	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.599C>G	11.37:g.65111502C>G	ENSP00000436901:p.Ser200Cys		A8K7C9|B4DT58	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2	p.S200C	ENST00000528416.1	37	c.599	CCDS8100.1	11	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015514	0.75161	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.90004	-2.6;-2.58	5.8	4.89	0.63831	.	0.000000	0.37348	N	0.002122	D	0.83982	0.5372	L	0.38175	1.15	0.41458	D	0.98802	P	0.37864	0.61	B	0.37091	0.241	D	0.84765	0.0764	10	0.62326	D	0.03	-9.5726	12.7018	0.57038	0.0:0.9205:0.0:0.0795	.	200	Q92785	REQU_HUMAN	C	200	ENSP00000436901:S200C;ENSP00000252268:S200C	ENSP00000252268:S200C	S	+	2	0	DPF2	64868078	1.000000	0.71417	0.992000	0.48379	0.588000	0.36517	7.611000	0.82962	1.461000	0.47929	-0.145000	0.13849	TCC	-	DPF2	-	NULL		0.557	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPF2	HGNC	protein_coding	OTTHUMT00000387293.3	0	0	0	29	29	86	0.00	0.00	C	NM_006268		65111502	+1	14	25	24	102	tier1	no_errors	ENST00000528416	ensembl	human	known	74_37	missense	36.84	19.69	SNP	0.994	G	14	24
CACNA1C	775	genome.wustl.edu	37	12	2614008	2614008	+	Splice_Site	SNP	G	G	C	rs1131648		TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr12:2614008G>C	ENST00000347598.4	+	8	1114	c.1114G>C	c.(1114-1116)Gtc>Ctc	p.V372L	CACNA1C_ENST00000402845.3_Splice_Site_p.V372L|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399655.1_Splice_Site_p.V372L|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000344100.3_Splice_Site_p.V372L|CACNA1C_ENST00000327702.7_Splice_Site_p.V372L|CACNA1C_ENST00000399629.1_Splice_Site_p.V372L|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399591.1_Splice_Site_p.V372L|CACNA1C_ENST00000399597.1_Splice_Site_p.V372L|CACNA1C_ENST00000399638.1_Splice_Site_p.V372L|CACNA1C_ENST00000480911.1_Splice_Site_p.V372L|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000335762.5_Splice_Site_p.V372L|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399595.1_Splice_Site_p.V372L|CACNA1C_ENST00000399649.1_Splice_Site_p.V372L|CACNA1C_ENST00000399601.1_Splice_Site_p.V372L|CACNA1C_ENST00000399621.1_Splice_Site_p.V372L|CACNA1C_ENST00000399637.1_Splice_Site_p.V372L|CACNA1C_ENST00000399644.1_Splice_Site_p.V372L|CACNA1C_ENST00000399606.1_Splice_Site_p.V372L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	372					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTTCTTCCAGGTCAATGATGC	0.527													ENSG00000151067																																					0													98.0	98.0	98.0					12																	2614008		1987	4180	6167	SO:0001630	splice_region_variant	0			-	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1114-1G>C	12.37:g.2614008G>C			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.V372L	ENST00000347598.4	37	c.1114	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678046	0.68042	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399595	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98	5.17	5.17	0.71159	Ion transport (1);	.	.	.	.	D	0.96929	0.8997	L	0.52823	1.66	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.17268	0.009;0.003;0.021;0.005;0.005;0.003;0.005;0.0;0.005;0.005;0.003;0.006;0.005;0.006;0.003;0.005;0.005;0.003;0.003	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.26693	0.014;0.007;0.072;0.014;0.014;0.007;0.014;0.016;0.034;0.014;0.014;0.007;0.014;0.019;0.007;0.014;0.014;0.007;0.007	D	0.94983	0.8127	8	.	.	.	.	18.8623	0.92278	0.0:0.0:1.0:0.0	.	372;369;372;372;372;372;372;372;372;372;372;372;372;372;372;372;372;372;372	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	L	372	ENSP00000336982:V372L;ENSP00000382563:V372L;ENSP00000437936:V372L;ENSP00000382552:V372L;ENSP00000382547:V372L;ENSP00000382506:V372L;ENSP00000382530:V372L;ENSP00000382546:V372L;ENSP00000382500:V372L;ENSP00000266376:V372L;ENSP00000382515:V372L;ENSP00000382510:V372L;ENSP00000341092:V372L;ENSP00000382537:V372L;ENSP00000329877:V372L;ENSP00000382557:V372L;ENSP00000385724:V372L;ENSP00000382504:V372L	.	V	+	1	0	CACNA1C	2484269	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.684000	0.91462	0.650000	0.86243	GTC	-	CAC1C	-	pfam_Ion_trans_dom,prints_VDCCAlpha1		0.527	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CAC1C	HGNC	protein_coding	OTTHUMT00000317035.1	0	0	0	71	71	60	0.00	0.00	G	NM_000719	Missense_Mutation	2614008	+1	24	16	117	119	tier1	no_errors	ENST00000347598	ensembl	human	known	74_37	missense	17.02	11.76	SNP	1.000	C	24	117
PSMD9	5715	genome.wustl.edu	37	12	122340949	122340949	+	Missense_Mutation	SNP	C	C	T			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr12:122340949C>T	ENST00000541212.1	+	4	617	c.491C>T	c.(490-492)tCt>tTt	p.S164F	RP11-87C12.2_ENST00000546333.1_3'UTR|PSMD9_ENST00000261817.2_Missense_Mutation_p.S164F|PSMD9_ENST00000340175.5_Missense_Mutation_p.S164F|PSMD9_ENST00000542602.1_Missense_Mutation_p.S59F			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	164	PDZ.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion (GO:0046676)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome regulatory particle (GO:0005838)	bHLH transcription factor binding (GO:0043425)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GAGTTCGGCTCTGTGAACACC	0.532													ENSG00000110801																																					0													168.0	134.0	146.0					12																	122340949		2203	4300	6503	SO:0001583	missense	0			-	AB003177	CCDS9225.1, CCDS58284.1	12q24.31-q24.32	2008-05-22			ENSG00000110801	ENSG00000110801		"""Proteasome (prosome, macropain) subunits"""	9567	protein-coding gene	gene with protein product		603146				9653651	Standard	NM_002813		Approved	p27, Rpn4	uc001ubl.4	O00233	OTTHUMG00000168945	ENST00000541212.1:c.491C>T	12.37:g.122340949C>T	ENSP00000440485:p.Ser164Phe		B2RD35|G3V1Q6|Q9BQ42	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ	p.S164F	ENST00000541212.1	37	c.491	CCDS9225.1	12	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396254	0.83011	.	.	ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000256950	ENST00000541212;ENST00000340175;ENST00000261817;ENST00000544724;ENST00000542602	T;T;T;T;T	0.31247	1.5;2.11;1.66;1.5;2.11	5.6	5.6	0.85130	PDZ/DHR/GLGF (2);	0.054713	0.85682	D	0.000000	T	0.62853	0.2462	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.66666	-0.5866	10	0.59425	D	0.04	-10.8784	19.6128	0.95616	0.0:1.0:0.0:0.0	.	164;164	F8W7V8;O00233	.;PSMD9_HUMAN	F	164;164;164;75;59	ENSP00000440485:S164F;ENSP00000340847:S164F;ENSP00000261817:S164F;ENSP00000443929:S75F;ENSP00000443772:S59F	ENSP00000261817:S164F	S	+	2	0	RP11-87C12.2;PSMD9	120825332	1.000000	0.71417	0.996000	0.52242	0.631000	0.37964	5.415000	0.66411	2.635000	0.89317	0.655000	0.94253	TCT	-	PSMD9	-	pfam_PDZ,superfamily_PDZ,smart_PDZ		0.532	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMD9	HGNC	protein_coding	OTTHUMT00000401686.1	0	0	0	45	45	98	0.00	0.00	C	NM_002813		122340949	+1	16	43	54	62	tier1	no_errors	ENST00000541212	ensembl	human	known	74_37	missense	22.86	40.57	SNP	1.000	T	16	54
Y_RNA	0	genome.wustl.edu	37	11	33218134	33218134	+	RNA	SNP	A	A	G			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr11:33218134A>G	ENST00000363615.1	-	0	49																											agaaacaaagaaatctgtaac	0.299													ENSG00000200485																																					0																																												0			-																													11.37:g.33218134A>G				R	SNP	-	NULL	ENST00000363615.1	37	NULL		11																																																																																			-	Y_R	-	-		0.299	Y_RNA.165-201	NOVEL	basic	misc_RNA	ENSG00000200485	RFAM	misc_RNA		0	0	0	25	25	11	0.00	0.00	A			33218134	-1	7	7	10	8	tier1	no_errors	ENST00000363615	ensembl	human	novel	74_37	rna	41.18	46.67	SNP	0.017	G	7	10
TRIM64C	646754	genome.wustl.edu	37	11	49080611	49080611	+	Silent	SNP	G	G	A	rs567605163		TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr11:49080611G>A	ENST00000530230.1	-	1	53	c.54C>T	c.(52-54)tgC>tgT	p.C18C		NM_001206631.1	NP_001193560.1	A6NLI5	TR64C_HUMAN	tripartite motif containing 64C	18						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						AGTAGTTCACGCAAATGCAGC	0.448													ENSG00000214891	G|||	1	0.000199681	0.0	0.0	5008	,	,		17769	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001819	synonymous_variant	0			-		CCDS73287.1	11p11.12	2014-04-02	2011-01-25		ENSG00000214891	ENSG00000214891		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	37148	protein-coding gene	gene with protein product			"""tripartite motif-containing 64C"""				Standard	NM_001206631		Approved		uc021qiy.1	A6NLI5	OTTHUMG00000166752	ENST00000530230.1:c.54C>T	11.37:g.49080611G>A				Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.C18	ENST00000530230.1	37	c.54		11																																																																																			-	TRIM64C	-	pfscan_Znf_RING		0.448	TRIM64C-001	KNOWN	basic|appris_principal	protein_coding	TRIM64C	HGNC	protein_coding	OTTHUMT00000391366.1	0	0	0	99	99	18	0.00	0.00	G			49080611	-1	36	6	66	8	tier1	no_errors	ENST00000530230	ensembl	human	known	74_37	silent	35.29	42.86	SNP	0.106	A	36	66
ZNF492	57615	genome.wustl.edu	37	19	22847104	22847104	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr19:22847104delC	ENST00000456783.2	+	4	877	c.633delC	c.(631-633)cacfs	p.H211fs	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	211					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GGCTCTCACACCTTACTACAC	0.378													ENSG00000229676																																					0													9.0	12.0	11.0					19																	22847104		1793	4054	5847	SO:0001589	frameshift_variant	0				AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.633delC	19.37:g.22847104delC	ENSP00000413660:p.His211fs		Q08EI7|Q08EI8	Frame_Shift_Del	DEL	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T213fs	ENST00000456783.2	37	c.633	CCDS46032.1	19																																																																																				ZNF492	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1	0	0	0	40	40	27	0.00	0.00	C	NM_020855		22847104	+1	11	3	21	8	tier1	no_errors	ENST00000456783	ensembl	human	known	74_37	frame_shift_del	34.38	27.27	DEL	0.000	-	11	21
FAT1	2195	genome.wustl.edu	37	4	187524885	187524885	+	Missense_Mutation	SNP	G	G	C			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr4:187524885G>C	ENST00000441802.2	-	19	11004	c.10795C>G	c.(10795-10797)Ctg>Gtg	p.L3599V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3599	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTGCTATCAGCTTGCCCCCT	0.498										HNSCC(5;0.00058)			ENSG00000083857																									Colon(197;1040 2055 4143 4984 49344)												0													111.0	114.0	113.0					4																	187524885		2155	4260	6415	SO:0001583	missense	0			-	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10795C>G	4.37:g.187524885G>C	ENSP00000406229:p.Leu3599Val			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.L3599V	ENST00000441802.2	37	c.10795	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606067	0.28623	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.53206	0.63	5.21	4.36	0.52297	Cadherin (3);Cadherin-like (1);	0.074767	0.56097	D	0.000039	T	0.41119	0.1145	L	0.42632	1.34	0.53005	D	0.999967	B	0.25609	0.13	B	0.22152	0.038	T	0.24941	-1.0146	10	0.34782	T	0.22	.	15.2404	0.73465	0.0:0.0:0.8584:0.1416	.	3599	Q14517	FAT1_HUMAN	V	3599;3601	ENSP00000406229:L3599V	ENSP00000260147:L3601V	L	-	1	2	FAT1	187761879	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	1.862000	0.39448	1.415000	0.47037	-0.311000	0.09066	CTG	-	FAT1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	0	0	0	47	47	83	0.00	0.00	G	NM_005245		187524885	-1	4	4	42	137	tier1	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	8.70	2.84	SNP	1.000	C	4	42
CACNA1A	773	genome.wustl.edu	37	19	13616929	13616929	+	Missense_Mutation	SNP	C	C	T			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr19:13616929C>T	ENST00000360228.5	-	1	109	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R37Q	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	37					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCGCCCTGCCGGCTGCCCCC	0.721													ENSG00000141837																																					0													35.0	38.0	37.0					19																	13616929		1931	4132	6063	SO:0001583	missense	0			-	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.110G>A	19.37:g.13616929C>T	ENSP00000353362:p.Arg37Gln		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.R37Q	ENST00000360228.5	37	c.110	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270284	0.59540	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95918	-3.85	2.97	2.97	0.34412	.	1.435950	0.05489	U	0.556199	D	0.93831	0.8027	M	0.79475	2.455	0.40741	D	0.982833	D;D	0.61080	0.989;0.989	B;B	0.35039	0.194;0.194	D	0.88855	0.3322	10	0.26408	T	0.33	.	12.7958	0.57558	0.0:1.0:0.0:0.0	.	37;37	O00555;Q9NS88	CAC1A_HUMAN;.	Q	37	ENSP00000353362:R37Q	ENSP00000317661:R37Q	R	-	2	0	CACNA1A	13477929	.	.	1.000000	0.80357	0.906000	0.53458	.	.	1.493000	0.48517	0.508000	0.49915	CGG	-	CAC1A	-	NULL		0.721	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CAC1A	HGNC	protein_coding	OTTHUMT00000104062.2	0	0	0	26	26	10	0.00	0.00	C	NM_000068		13616929	-1	8	0	23	7	tier1	no_errors	ENST00000360228	ensembl	human	known	74_37	missense	25.81	0.00	SNP	1.000	T	8	23
GOLGA8O	728047	genome.wustl.edu	37	15	32737911	32737911	+	Missense_Mutation	SNP	A	A	G	rs202039765	byFrequency	TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr15:32737911A>G	ENST00000509311.2	-	17	1572	c.1475T>C	c.(1474-1476)aTc>aCc	p.I492T	AC135983.1_ENST00000408391.1_RNA|RN7SL539P_ENST00000482670.2_RNA	NM_001277308.1	NP_001264237.1	A6NCC3	GOG8O_HUMAN	golgin A8 family, member O	492						Golgi apparatus (GO:0005794)											AAGGTGATGGATTTTCCTGCG	0.602													ENSG00000206127	.|||	84	0.0167732	0.0507	0.0086	5008	,	,		8710	0.003		0.003	False		,,,				2504	0.0051																0																																										SO:0001583	missense	0			-		CCDS59252.1	15q13.3	2012-10-05			ENSG00000206127	ENSG00000206127			44406	protein-coding gene	gene with protein product							Standard	NM_001277308		Approved		uc031qrg.1	A6NCC3	OTTHUMG00000162878	ENST00000509311.2:c.1475T>C	15.37:g.32737911A>G	ENSP00000423159:p.Ile492Thr		A6NHZ1|E7ENU5	Missense_Mutation	SNP	NULL	p.I492T	ENST00000509311.2	37	c.1475	CCDS59252.1	15	.	.	.	.	.	.	.	.	.	.	a	7.268	0.606557	0.14002	.	.	ENSG00000206127	ENST00000509311	T	0.21932	1.98	1.61	1.61	0.23674	.	.	.	.	.	T	0.25419	0.0618	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.03344	-1.1046	6	0.41790	T	0.15	.	7.357	0.26725	1.0:0.0:0.0:0.0	.	.	.	.	T	492	ENSP00000423159:I492T	ENSP00000423159:I492T	I	-	2	0	RP11-632K20.1	30525203	1.000000	0.71417	0.071000	0.20095	0.105000	0.19272	6.566000	0.73978	1.020000	0.39573	0.076000	0.15429	ATC	rs202039765	GOLGA8O	-	NULL		0.602	GOLGA8O-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate_longest|CCDS	protein_coding	GOLGA8O	HGNC	protein_coding	OTTHUMT00000370931.3	0	0	0	47	47	7	0.00	0.00	A			32737911	-1	4	0	25	1	tier1	no_errors	ENST00000509311	ensembl	human	novel	74_37	missense	13.33	0.00	SNP	1.000	G	4	25
