#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ANO1	55107	genome.wustl.edu	37	11	70007819	70007819	+	Silent	SNP	C	C	T			TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr11:70007819C>T	ENST00000355303.5	+	18	2177	c.1872C>T	c.(1870-1872)taC>taT	p.Y624Y	ANO1_ENST00000531349.1_Silent_p.Y333Y|ANO1_ENST00000538023.1_Silent_p.Y624Y|ANO1_ENST00000530676.1_Silent_p.Y478Y|ANO1_ENST00000398543.2_Silent_p.Y478Y|ANO1_ENST00000316296.5_Silent_p.Y566Y	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	624					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CCATCTTTTACGTGGCGTTCT	0.552																																						dbGAP											0													180.0	183.0	182.0					11																	70007819		1927	4144	6071	-	-	-	SO:0001819	synonymous_variant	0			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1872C>T	11.37:g.70007819C>T			A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	pfam_Anoctamin	p.Y624	ENST00000355303.5	37	c.1872	CCDS44663.1	11																																																																																			ANO1	-	pfam_Anoctamin	ENSG00000131620		0.552	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1	94	0.00	0	C	NM_018043		70007819	70007819	+1	no_errors	ENST00000355303	ensembl	human	known	69_37n	silent	103	32.26	50	SNP	1.000	T
APOBEC3A	200315	genome.wustl.edu	37	22	39357391	39357391	+	Splice_Site	SNP	G	G	A			TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr22:39357391G>A	ENST00000402255.1	+	4	378		c.e4-1		APOBEC3A_ENST00000249116.2_Splice_Site			P31941	ABC3A_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A						cellular response to xenobiotic stimulus (GO:0071466)|clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine (GO:0044356)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5	Melanoma(58;0.04)					TCCTTTTCTAGGCTAAGAATC	0.587																																						dbGAP											0													7.0	10.0	9.0					22																	39357391		1703	3664	5367	-	-	-	SO:0001630	splice_region_variant	0			U03891	CCDS13981.1	22q13.1-q13.2	2014-01-28			ENSG00000128383	ENSG00000128383		"""Apolipoprotein B mRNA editing enzymes"""	17343	protein-coding gene	gene with protein product	"""phorbolin I"""	607109				11863358, 10469298	Standard	NM_145699		Approved	ARP3, PHRBN		P31941	OTTHUMG00000151004	ENST00000402255.1:c.175-1G>A	22.37:g.39357391G>A			A0AVM1|Q12807|Q5JZ93|Q9UH18	Splice_Site	SNP	-	e3-1	ENST00000402255.1	37	c.175-1	CCDS13981.1	22	.	.	.	.	.	.	.	.	.	.	G	0.730	-0.780171	0.02929	.	.	ENSG00000128383	ENST00000402255;ENST00000249116	.	.	.	1.81	-2.01	0.07410	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.4036	0.07332	0.0:0.3664:0.296:0.3377	.	.	.	.	.	-1	.	.	.	+	.	.	APOBEC3A	37687337	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.395000	0.01053	-0.608000	0.05731	-0.291000	0.09656	.	APOBEC3A	-	-	ENSG00000128383		0.587	APOBEC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3A	HGNC	protein_coding	OTTHUMT00000320915.2	18	0.00	0	G	NM_145699	Intron	39357391	39357391	+1	no_errors	ENST00000249116	ensembl	human	known	69_37n	splice_site	6	64.71	11	SNP	0.000	A
CACNA1G	8913	genome.wustl.edu	37	17	48703503	48703503	+	Silent	SNP	C	C	G			TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr17:48703503C>G	ENST00000359106.5	+	38	6525	c.6525C>G	c.(6523-6525)acC>acG	p.T2175T	CACNA1G_ENST00000514717.1_Silent_p.T2025T|CACNA1G_ENST00000512389.1_Silent_p.T2071T|CACNA1G_ENST00000507336.1_Silent_p.T2164T|CACNA1G_ENST00000507609.1_Silent_p.T2075T|CACNA1G_ENST00000514079.1_Silent_p.T2089T|CACNA1G_ENST00000513964.1_Silent_p.T2037T|CACNA1G_ENST00000507510.2_Silent_p.T2130T|CACNA1G_ENST00000513689.2_Silent_p.T2085T|CACNA1G_ENST00000502264.1_Silent_p.T2104T|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000503485.1_Silent_p.T2048T|CACNA1G_ENST00000360761.4_Silent_p.T2059T|CACNA1G_ENST00000515165.1_Silent_p.T2082T|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000510366.1_Silent_p.T2030T|CACNA1G_ENST00000354983.4_Silent_p.T2141T|CACNA1G_ENST00000429973.2_Silent_p.T2064T|CACNA1G_ENST00000352832.5_Silent_p.T2048T|CACNA1G_ENST00000515765.1_Silent_p.T2119T|CACNA1G_ENST00000514181.1_Silent_p.T2057T|CACNA1G_ENST00000515411.1_Silent_p.T2112T|CACNA1G_ENST00000442258.2_Silent_p.T2041T|CACNA1G_ENST00000505165.1_Intron|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000510115.1_Silent_p.T2096T	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2175					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGTCAAGTACCCAGGCACAGC	0.677											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													27.0	37.0	34.0					17																	48703503		2098	4209	6307	-	-	-	SO:0001819	synonymous_variant	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6525C>G	17.37:g.48703503C>G		956	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.T2175	ENST00000359106.5	37	c.6525	CCDS45730.1	17																																																																																			CACNA1G	-	NULL	ENSG00000006283		0.677	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	28	0.00	0	C	NM_018896		48703503	48703503	+1	no_errors	ENST00000359106	ensembl	human	known	69_37n	silent	18	47.06	16	SNP	0.958	G
CACNA1G	8913	genome.wustl.edu	37	17	48703604	48703604	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr17:48703604C>T	ENST00000359106.5	+	38	6626	c.6626C>T	c.(6625-6627)cCa>cTa	p.P2209L	CACNA1G_ENST00000514717.1_Missense_Mutation_p.P2059L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P2105L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P2198L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P2109L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P2123L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P2071L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P2164L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P2119L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P2138L|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P2082L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P2093L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P2116L|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P2064L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P2175L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P2098L|CACNA1G_ENST00000352832.5_Missense_Mutation_p.P2082L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P2153L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P2091L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P2146L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P2075L|CACNA1G_ENST00000505165.1_Intron|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P2130L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2209					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AAGGGCCCTCCAGAGACCAGA	0.657											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													40.0	49.0	46.0					17																	48703604		2030	4172	6202	-	-	-	SO:0001583	missense	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6626C>T	17.37:g.48703604C>T	ENSP00000352011:p.Pro2209Leu	956	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.P2209L	ENST00000359106.5	37	c.6626	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	c	3.785	-0.044933	0.07452	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000359106;ENST00000429973;ENST00000515411	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96774	-4.0;-4.0;-3.96;-4.0;-4.04;-4.02;-4.12;-4.08;-4.09;-4.1;-4.0;-3.99;-4.08;-3.98;-3.98;-4.02;-3.99;-4.0;-4.02;-3.99;-4.03;-4.0	5.32	3.3	0.37823	.	1.455190	0.04024	N	0.300320	D	0.91489	0.7313	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.30033	0.266;0.0;0.001;0.0;0.0;0.001;0.001;0.0;0.001;0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.002;0.003;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.32724	0.151;0.0;0.015;0.003;0.002;0.008;0.015;0.0;0.015;0.003;0.0;0.001;0.01;0.0;0.007;0.004;0.001;0.007;0.012;0.001;0.0;0.0	D	0.84483	0.0606	10	0.36615	T	0.2	.	8.9645	0.35867	0.1465:0.7775:0.0:0.0759	.	2059;2071;2064;2146;2119;2091;2123;2082;2109;2138;2105;2198;2098;2153;2116;2186;2164;2082;2075;2130;2093;2209	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN	L	2093;2082;2175;2075;2138;2105;2071;2059;2064;2082;2164;2198;2119;2109;2130;2116;2091;2153;2123;2209;2098;2146	ENSP00000353990:P2093L;ENSP00000339302:P2082L;ENSP00000347078:P2175L;ENSP00000409759:P2075L;ENSP00000425522:P2138L;ENSP00000426261:P2105L;ENSP00000425451:P2071L;ENSP00000422407:P2059L;ENSP00000426814:P2064L;ENSP00000427238:P2082L;ENSP00000423112:P2164L;ENSP00000420918:P2198L;ENSP00000426172:P2119L;ENSP00000423045:P2109L;ENSP00000427173:P2130L;ENSP00000426098:P2116L;ENSP00000425698:P2091L;ENSP00000426232:P2153L;ENSP00000423317:P2123L;ENSP00000352011:P2209L;ENSP00000414388:P2098L;ENSP00000423155:P2146L	ENSP00000339302:P2082L	P	+	2	0	CACNA1G	46058603	0.000000	0.05858	0.140000	0.22221	0.555000	0.35460	0.018000	0.13422	0.602000	0.29896	0.462000	0.41574	CCA	CACNA1G	-	NULL	ENSG00000006283		0.657	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	22	0.00	0	C	NM_018896		48703604	48703604	+1	no_errors	ENST00000359106	ensembl	human	known	69_37n	missense	26	39.53	17	SNP	0.014	T
CROCCP2	84809	genome.wustl.edu	37	1	16950687	16950687	+	lincRNA	SNP	G	G	T	rs1762940		TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr1:16950687G>T	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCCCTGGGGGCCCGTGCCTG	0.667																																						dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16950687G>T			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.667	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	11	0.00	0	G	NR_026752.1		16950687	16950687	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	18	25.00	6	SNP	0.003	T
DNA2	1763	genome.wustl.edu	37	10	70231706	70231706	+	5'Flank	SNP	G	G	A			TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr10:70231706G>A	ENST00000358410.3	-	0	0				DNA2_ENST00000399179.2_5'UTR|DNA2_ENST00000399180.2_Silent_p.R58R	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2						ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						GGAAAAAGGCGCGAGCCTGCG	0.647																																						dbGAP											0													27.0	32.0	30.0					10																	70231706		1869	4094	5963	-	-	-	SO:0001631	upstream_gene_variant	0			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352		10.37:g.70231706G>A	Exception_encountered		Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	pfam_DNA_replication_fac_Dna2	p.R58	ENST00000358410.3	37	c.174		10																																																																																			DNA2	-	NULL	ENSG00000138346		0.647	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	HGNC	protein_coding	OTTHUMT00000048334.2	33	0.00	0	G			70231706	70231706	-1	no_errors	ENST00000399180	ensembl	human	known	69_37n	silent	16	36.00	9	SNP	0.012	A
EP400	57634	genome.wustl.edu	37	12	132562209	132562209	+	Silent	SNP	G	G	A			TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr12:132562209G>A	ENST00000333577.4	+	54	9580	c.9471G>A	c.(9469-9471)ccG>ccA	p.P3157P	EP400_ENST00000330386.6_Silent_p.P3040P|EP400_ENST00000389561.2_Silent_p.P3121P|RP13-820C6.2_ENST00000542422.1_RNA|EP400_ENST00000332482.4_Silent_p.P3084P|EP400_ENST00000389562.2_Silent_p.P3120P			Q96L91	EP400_HUMAN	E1A binding protein p400	3157					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTAAGCCTCCGTGCCAGTAGT	0.557																																						dbGAP											0													20.0	25.0	23.0					12																	132562209		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.9471G>A	12.37:g.132562209G>A			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P3157	ENST00000333577.4	37	c.9471		12																																																																																			EP400	-	NULL	ENSG00000183495		0.557	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		18	0.00	0	G	NM_015409		132562209	132562209	+1	no_errors	ENST00000333577	ensembl	human	known	69_37n	silent	15	34.78	8	SNP	0.737	A
FAM78B	149297	genome.wustl.edu	37	1	166039779	166039779	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr1:166039779C>A	ENST00000338353.3	-	3	1074	c.485G>T	c.(484-486)aGa>aTa	p.R162I	FAM78B_ENST00000354422.3_Missense_Mutation_p.R162I			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	162										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TCTCTTGATTCTTGTGAGCAG	0.507																																						dbGAP											0													225.0	199.0	208.0					1																	166039779		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.485G>T	1.37:g.166039779C>A	ENSP00000339681:p.Arg162Ile		B7Z693	Missense_Mutation	SNP	NULL	p.R162I	ENST00000338353.3	37	c.485	CCDS30931.1	1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854478	0.51376	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.84	5.84	0.93424	.	0.082765	0.85682	D	0.000000	T	0.40645	0.1125	L	0.43152	1.355	0.46478	D	0.999060	P	0.36249	0.545	B	0.35607	0.206	T	0.43491	-0.9388	8	0.40728	T	0.16	-14.1586	17.6471	0.88151	0.0:1.0:0.0:0.0	.	162	Q5VT40	FA78B_HUMAN	I	162	.	ENSP00000339681:R162I	R	-	2	0	FAM78B	164306403	1.000000	0.71417	0.975000	0.42487	0.988000	0.76386	4.707000	0.61852	2.758000	0.94735	0.655000	0.94253	AGA	FAM78B	-	NULL	ENSG00000188859		0.507	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78B	HGNC	protein_coding	OTTHUMT00000343108.1	72	0.00	0	C	NM_001017961		166039779	166039779	-1	no_errors	ENST00000338353	ensembl	human	known	69_37n	missense	121	18.24	27	SNP	0.997	A
GATA3	2625	genome.wustl.edu	37	10	8111513	8111514	+	Frame_Shift_Ins	INS	-	-	G			TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr10:8111513_8111514insG	ENST00000346208.3	+	5	1454_1455	c.999_1000insG	c.(1000-1002)gggfs	p.G334fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.G335fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	334					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.N334fs*19(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GGAATGCCAATGGGGACCCTGT	0.569			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Insertion - Frameshift(1)	NS(1)																																								-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1003dupG	10.37:g.8111517_8111517dupG	ENSP00000341619:p.Gly334fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.D335fs	ENST00000346208.3	37	c.1002_1003	CCDS7083.1	10																																																																																			GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.569	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	62	0.00	0	-	NM_001002295		8111513	8111514	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	96	26.15	34	INS	0.859:1.000	G
GRM6	2916	genome.wustl.edu	37	5	178418554	178418555	+	Frame_Shift_Ins	INS	-	-	C	rs17078894|rs281865186	byFrequency	TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr5:178418554_178418555insC	ENST00000517717.1	-	4	765_766	c.727_728insG	c.(727-729)gtcfs	p.V243fs	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Frame_Shift_Ins_p.V243fs			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	243					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGCAATACAGACCCCCCCTGGG	0.624																																						dbGAP											0			GRCh37	CI054463	GRM6	I				0,4262		0,0,2131				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		5.3	1.0		dbSNP_129	140	2,8252		0,2,4125	no	frameshift	GRM6	NM_000843.3		0,2,6256	A1A1,A1R,RR		0.0242,0.0,0.016				2,12514				-	-	-	SO:0001589	frameshift_variant	0			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.728dupG	5.37:g.178418561_178418561dupC	ENSP00000430767:p.Val243fs			Frame_Shift_Ins	INS	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.V243fs	ENST00000517717.1	37	c.728_727	CCDS4442.1	5																																																																																			GRM6	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3_mtglu_rcpt	ENSG00000113262		0.624	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	44	0.00	0	-			178418554	178418555	-1	no_errors	ENST00000231188	ensembl	human	known	69_37n	frame_shift_ins	43	23.21	13	INS	1.000:0.986	C
NACA2	342538	genome.wustl.edu	37	17	59668404	59668404	+	Silent	SNP	G	G	A			TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr17:59668404G>A	ENST00000521764.1	-	1	159	c.138C>T	c.(136-138)acC>acT	p.T46T		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	46					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TTTGTGTGGTGGTCTGGGTGG	0.522																																						dbGAP											0													112.0	101.0	105.0					17																	59668404		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.138C>T	17.37:g.59668404G>A			Q2VIR9	Silent	SNP	pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pirsf_Nas_poly-pep-assoc_cplx_asu,pfscan_Nas_poly-pep-assoc_cplx	p.T46	ENST00000521764.1	37	c.138	CCDS11630.1	17																																																																																			NACA2	-	pirsf_Nas_poly-pep-assoc_cplx_asu	ENSG00000253506		0.522	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACA2	HGNC	protein_coding	OTTHUMT00000255437.2	96	0.00	0	G	NM_199290		59668404	59668404	-1	no_errors	ENST00000521764	ensembl	human	known	69_37n	silent	480	10.78	58	SNP	0.976	A
OR8H1	219469	genome.wustl.edu	37	11	56058034	56058034	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr11:56058034C>T	ENST00000313022.2	-	1	532	c.505G>A	c.(505-507)Gac>Aac	p.D169N		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					ACATTTGAGTCGCAGAAATGC	0.438																																						dbGAP											0													100.0	91.0	94.0					11																	56058034		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.505G>A	11.37:g.56058034C>T	ENSP00000323595:p.Asp169Asn		B2RNI7|Q6IFC5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.D169N	ENST00000313022.2	37	c.505	CCDS31526.1	11	.	.	.	.	.	.	.	.	.	.	C	0.226	-1.024741	0.02061	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.36520	1.25	3.64	-1.3	0.09259	GPCR, rhodopsin-like superfamily (1);	1.006310	0.07990	N	0.987018	T	0.14700	0.0355	N	0.04669	-0.19	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28618	-1.0038	10	0.19147	T	0.46	.	5.7605	0.18196	0.0:0.4919:0.2545:0.2536	.	169	Q8NGG4	OR8H1_HUMAN	N	169;165	ENSP00000323595:D169N	ENSP00000323595:D169N	D	-	1	0	OR8H1	55814610	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.402000	0.01047	-0.391000	0.07763	0.446000	0.29264	GAC	OR8H1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181693		0.438	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1	49	0.00	0	C	NM_001005199		56058034	56058034	-1	no_errors	ENST00000313022	ensembl	human	known	69_37n	missense	59	33.71	30	SNP	0.000	T
NPAS4	266743	genome.wustl.edu	37	11	66191476	66191476	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr11:66191476G>A	ENST00000311034.2	+	7	1291	c.1115G>A	c.(1114-1116)aGc>aAc	p.S372N		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	372					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.S372I(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCTCCCAGAAGCACCAGCTTC	0.547																																						dbGAP											1	Substitution - Missense(1)	lung(1)											133.0	139.0	137.0					11																	66191476		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1115G>A	11.37:g.66191476G>A	ENSP00000311196:p.Ser372Asn		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.S372N	ENST00000311034.2	37	c.1115	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820881	0.50633	.	.	ENSG00000174576	ENST00000311034	T	0.48522	0.81	4.65	3.71	0.42584	.	0.100343	0.44688	D	0.000433	T	0.40398	0.1115	N	0.24115	0.695	0.33294	D	0.563867	D	0.61697	0.99	P	0.57204	0.815	T	0.37865	-0.9687	10	0.12766	T	0.61	-3.669	7.4179	0.27055	0.1933:0.0:0.8067:0.0	.	372	Q8IUM7	NPAS4_HUMAN	N	372	ENSP00000311196:S372N	ENSP00000311196:S372N	S	+	2	0	NPAS4	65948052	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.876000	0.63079	2.420000	0.82092	0.563000	0.77884	AGC	NPAS4	-	NULL	ENSG00000174576		0.547	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	24	0.00	0	G	NM_178864		66191476	66191476	+1	no_errors	ENST00000311034	ensembl	human	known	69_37n	missense	36	35.71	20	SNP	1.000	A
PCDHB6	56130	genome.wustl.edu	37	5	140530373	140530373	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr5:140530373G>A	ENST00000231136.1	+	1	535	c.535G>A	c.(535-537)Gtt>Att	p.V179I	PCDHB6_ENST00000543635.1_Missense_Mutation_p.V43I	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACTTCCACGTTCTCACCCG	0.542																																						dbGAP											0													141.0	149.0	146.0					5																	140530373		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.535G>A	5.37:g.140530373G>A	ENSP00000231136:p.Val179Ile		B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V179I	ENST00000231136.1	37	c.535	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	G	9.905	1.207883	0.22205	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.39056	1.1;1.1	4.7	1.34	0.21922	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.19685	0.0473	N	0.13003	0.285	0.09310	N	1	B	0.27765	0.188	B	0.31290	0.127	T	0.23619	-1.0183	9	0.12430	T	0.62	.	0.9719	0.01417	0.3829:0.2314:0.2452:0.1404	.	179	Q9Y5E3	PCDB6_HUMAN	I	43;179	ENSP00000438466:V43I;ENSP00000231136:V179I	ENSP00000231136:V179I	V	+	1	0	PCDHB6	140510557	0.000000	0.05858	0.989000	0.46669	0.949000	0.60115	-1.213000	0.02991	0.511000	0.28236	0.561000	0.74099	GTT	PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113211		0.542	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	56	0.00	0	G	NM_018939		140530373	140530373	+1	no_errors	ENST00000231136	ensembl	human	known	69_37n	missense	42	32.26	20	SNP	0.000	A
SCN3A	6328	genome.wustl.edu	37	2	165952146	165952146	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr2:165952146G>A	ENST00000360093.3	-	25	4797	c.4306C>T	c.(4306-4308)Cct>Tct	p.P1436S	SCN3A_ENST00000283254.7_Missense_Mutation_p.P1436S|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Missense_Mutation_p.P1387S|SCN3A_ENST00000540861.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1436					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCATATACAGGCTGAAGTTTA	0.259																																						dbGAP											0													47.0	46.0	46.0					2																	165952146		2200	4295	6495	-	-	-	SO:0001583	missense	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4306C>T	2.37:g.165952146G>A	ENSP00000353206:p.Pro1436Ser		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.P1436S	ENST00000360093.3	37	c.4306		2	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189533	0.38707	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.98090	-4.71;-4.71;-4.65	5.25	5.25	0.73442	.	0.066550	0.56097	D	0.000021	D	0.99251	0.9739	H	0.96777	3.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.989	D;D;P	0.87578	0.998;0.998;0.779	D	0.98808	1.0742	10	0.87932	D	0	.	19.4069	0.94651	0.0:0.0:1.0:0.0	.	1387;1387;1436	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	S	1436;1436;1387	ENSP00000353206:P1436S;ENSP00000283254:P1436S;ENSP00000386726:P1387S	ENSP00000283254:P1436S	P	-	1	0	SCN3A	165660392	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	9.601000	0.98297	2.894000	0.99253	0.591000	0.81541	CCT	SCN3A	-	pfam_Ion_trans_dom	ENSG00000153253		0.259	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		65	0.00	0	G	NM_006922		165952146	165952146	-1	no_errors	ENST00000283254	ensembl	human	known	69_37n	missense	60	36.84	35	SNP	1.000	A
SIRPB1	10326	genome.wustl.edu	37	20	1551639	1551639	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr20:1551639G>A	ENST00000381605.4	-	4	960	c.896C>T	c.(895-897)tCg>tTg	p.S299L	SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	299	Ig-like C1-type 2.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.S299L(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TATGAGGGTCGAAGCTGTTTC	0.557																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											212.0	188.0	196.0					20																	1551639		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.896C>T	20.37:g.1551639G>A	ENSP00000371018:p.Ser299Leu		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like	p.S299L	ENST00000381605.4	37	c.896	CCDS13019.1	20	.	.	.	.	.	.	.	.	.	.	.	0.574	-0.840079	0.02692	.	.	ENSG00000101307	ENST00000381605	T	0.03272	3.99	2.51	-1.68	0.08212	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.715331	0.12620	N	0.453091	T	0.02970	0.0088	L	0.52266	1.64	0.09310	N	0.999999	B	0.21520	0.057	B	0.20767	0.031	T	0.49409	-0.8943	10	0.07990	T	0.79	.	4.238	0.10635	0.1721:0.4498:0.3781:0.0	.	299	O00241	SIRB1_HUMAN	L	299	ENSP00000371018:S299L	ENSP00000371018:S299L	S	-	2	0	SIRPB1	1499639	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.028000	0.12350	-0.527000	0.06374	0.462000	0.41574	TCG	SIRPB1	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000101307		0.557	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRPB1	HGNC	protein_coding	OTTHUMT00000077555.2	139	0.00	0	G	NM_006065		1551639	1551639	-1	no_errors	ENST00000381605	ensembl	human	known	69_37n	missense	165	36.64	96	SNP	0.000	A
SLC24A3	57419	genome.wustl.edu	37	20	19662508	19662508	+	Silent	SNP	C	C	T			TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr20:19662508C>T	ENST00000328041.6	+	10	971	c.774C>T	c.(772-774)aaC>aaT	p.N258N		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	258					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCAGATATAACGCTTGCATAC	0.493																																						dbGAP											0													120.0	108.0	112.0					20																	19662508		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.774C>T	20.37:g.19662508C>T			B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Silent	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like	p.N258	ENST00000328041.6	37	c.774	CCDS13140.1	20																																																																																			SLC24A3	-	tigrfam_K-dep_Na/Ca-exchanger-like	ENSG00000185052		0.493	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A3	HGNC	protein_coding	OTTHUMT00000078207.4	49	0.00	0	C	NM_020689		19662508	19662508	+1	no_errors	ENST00000328041	ensembl	human	known	69_37n	silent	42	37.31	25	SNP	0.619	T
SNUPN	10073	genome.wustl.edu	37	15	75901960	75901960	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr15:75901960G>T	ENST00000564644.1	-	6	1019	c.441C>A	c.(439-441)taC>taA	p.Y147*	SNUPN_ENST00000567134.1_Nonsense_Mutation_p.Y147*|SNUPN_ENST00000564675.1_Nonsense_Mutation_p.Y147*|SNUPN_ENST00000371091.5_Nonsense_Mutation_p.Y189*|SNUPN_ENST00000308588.5_Nonsense_Mutation_p.Y147*			O95149	SPN1_HUMAN	snurportin 1	147	Necessary for interaction with XPO1.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						TGTTGACACAGTAGCCACTCT	0.463																																						dbGAP											0													108.0	107.0	107.0					15																	75901960		2197	4294	6491	-	-	-	SO:0001587	stop_gained	0			AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.441C>A	15.37:g.75901960G>T	ENSP00000454852:p.Tyr147*		A6NE34|A8K0B0|D3DW76	Nonsense_Mutation	SNP	pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB	p.Y189*	ENST00000564644.1	37	c.567	CCDS10281.1	15	.	.	.	.	.	.	.	.	.	.	g	18.32	3.597543	0.66332	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	.	.	.	5.4	4.48	0.54585	.	0.243356	0.42964	D	0.000632	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.04	9.6702	0.40008	0.1623:0.0:0.8377:0.0	.	.	.	.	X	147;189	.	ENSP00000309831:Y147X	Y	-	3	2	SNUPN	73689015	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.073000	0.41519	1.284000	0.44531	0.544000	0.68410	TAC	SNUPN	-	pirsf_Snurportin-1	ENSG00000169371		0.463	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNUPN	HGNC	protein_coding	OTTHUMT00000420332.1	62	0.00	0	G	NM_005701		75901960	75901960	-1	no_errors	ENST00000371091	ensembl	human	known	69_37n	nonsense	72	20.88	19	SNP	1.000	T
TTC7B	145567	genome.wustl.edu	37	14	91077095	91077095	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr14:91077095G>T	ENST00000328459.6	-	17	2078	c.1957C>A	c.(1957-1959)Ccc>Acc	p.P653T	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Missense_Mutation_p.P653T	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	653										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CCTGTCTCGGGATCGCTGAAG	0.493																																						dbGAP											0													162.0	151.0	155.0					14																	91077095		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1957C>A	14.37:g.91077095G>T	ENSP00000336127:p.Pro653Thr		Q86U24|Q86VT3	Missense_Mutation	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P653T	ENST00000328459.6	37	c.1957	CCDS32140.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.227823|4.227823	0.79576|0.79576	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972;ENST00000555894;ENST00000540938|ENST00000557292	T;T;T|.	0.63255|.	1.97;1.32;-0.03|.	5.92|5.92	5.03|5.03	0.67393|0.67393	.|.	0.109611|.	0.64402|.	D|.	0.000005|.	T|T	0.56381|0.56381	0.1981|0.1981	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	P;D|.	0.89917|.	0.666;1.0|.	B;D|.	0.87578|.	0.194;0.998|.	T|T	0.52953|0.52953	-0.8506|-0.8506	10|5	0.18276|.	T|.	0.48|.	-20.76|-20.76	14.9766|14.9766	0.71277|0.71277	0.068:0.0:0.932:0.0|0.068:0.0:0.932:0.0	.|.	653;653|.	Q86TV6;Q86TV6-2|.	TTC7B_HUMAN;.|.	T|Y	551;653;653;123;62;395|9	ENSP00000349564:P653T;ENSP00000336127:P653T;ENSP00000451440:P123T|.	ENSP00000336127:P653T|.	P|S	-|-	1|2	0|0	TTC7B|TTC7B	90146848|90146848	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.988000|0.988000	0.76386|0.76386	9.510000|9.510000	0.98004|0.98004	1.514000|1.514000	0.48869|0.48869	0.650000|0.650000	0.86243|0.86243	CCC|TCC	TTC7B	-	NULL	ENSG00000165914		0.493	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7B	HGNC	protein_coding	OTTHUMT00000411364.2	92	0.00	0	G			91077095	91077095	-1	no_errors	ENST00000357056	ensembl	human	known	69_37n	missense	117	29.94	50	SNP	1.000	T
UBN2	254048	genome.wustl.edu	37	7	138968233	138968233	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A273-01A-11D-A16D-09	TCGA-C8-A273-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c5e6f325-5fd0-4cff-8eaf-6e23e016f605	938d7d67-f5e1-4fce-aacd-9224ed1a882f	g.chr7:138968233C>A	ENST00000473989.3	+	15	2582	c.2582C>A	c.(2581-2583)tCc>tAc	p.S861Y	UBN2_ENST00000288561.8_Missense_Mutation_p.S778Y	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	861						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.S778F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GCTGGTTCTTCCATTCAGAAC	0.458																																						dbGAP											1	Substitution - Missense(1)	skin(1)											87.0	87.0	87.0					7																	138968233		1889	4106	5995	-	-	-	SO:0001583	missense	0			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2582C>A	7.37:g.138968233C>A	ENSP00000418648:p.Ser861Tyr		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	NULL	p.S861Y	ENST00000473989.3	37	c.2582	CCDS43655.2	7	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506690	0.64410	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.40225	1.09;1.04	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000006	T	0.60483	0.2272	L	0.46157	1.445	0.58432	D	0.999998	D	0.71674	0.998	D	0.78314	0.991	T	0.59867	-0.7373	10	0.59425	D	0.04	-9.0274	19.6532	0.95825	0.0:1.0:0.0:0.0	.	861	Q6ZU65	UBN2_HUMAN	Y	861;778	ENSP00000418648:S861Y;ENSP00000288561:S778Y	ENSP00000288561:S778Y	S	+	2	0	UBN2	138618773	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	5.317000	0.65822	2.718000	0.92993	0.467000	0.42956	TCC	UBN2	-	NULL	ENSG00000157741		0.458	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	HGNC	protein_coding	OTTHUMT00000349272.3	41	0.00	0	C	NM_173569		138968233	138968233	+1	no_errors	ENST00000473989	ensembl	human	known	69_37n	missense	176	15.38	32	SNP	1.000	A
