#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
TRPC7	57113	genome.wustl.edu	37	5	135692363	135692363	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr5:135692363G>T	ENST00000513104.1	-	2	995	c.713C>A	c.(712-714)cCt>cAt	p.P238H	TRPC7_ENST00000426057.2_Missense_Mutation_p.P238H|TRPC7_ENST00000355180.3_Missense_Mutation_p.P238H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	238					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGAGGACAGGGTCTTCGCT	0.557													ENSG00000069018																																					0													51.0	56.0	54.0					5																	135692363		2127	4246	6373	SO:0001583	missense	0			-	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.713C>A	5.37:g.135692363G>T	ENSP00000426070:p.Pro238His		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.P238H	ENST00000513104.1	37	c.713	CCDS47267.2	5	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605360	0.87157	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	D;D;D	0.85411	-1.98;-1.98;-1.98	5.38	5.38	0.77491	Transient receptor potential II (1);	0.000000	0.85682	D	0.000000	D	0.94272	0.8160	M	0.91300	3.195	0.48395	D	0.999648	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	D	0.94942	0.8092	10	0.87932	D	0	-8.8332	19.3333	0.94303	0.0:0.0:1.0:0.0	.	238;238;238;238	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	H	238	ENSP00000347312:P238H;ENSP00000441628:P238H;ENSP00000426070:P238H	ENSP00000265193:P238H	P	-	2	0	TRPC7	135720262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.793000	0.96121	0.655000	0.94253	CCT	-	TRPC7	-	pfam_TRP_dom,tigrfam_TRP_channel		0.557	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	0	0		23	23		0.00		G	NM_020389		135692363	-1	4		21		tier1	no_errors	ENST00000513104	ensembl	human	known	74_37	missense	16.00		SNP	1.000	T	4	21
TMEM132E	124842	genome.wustl.edu	37	17	32957125	32957125	+	Silent	SNP	C	C	T			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr17:32957125C>T	ENST00000321639.5	+	6	1495	c.1167C>T	c.(1165-1167)atC>atT	p.I389I		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	389						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCCTGGACATCTCCGCCCTAG	0.577													ENSG00000181291																																					0													113.0	79.0	90.0					17																	32957125		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1167C>T	17.37:g.32957125C>T			Q8WUF4|Q8WVA5	Silent	SNP	NULL	p.I389	ENST00000321639.5	37	c.1167	CCDS11283.1	17																																																																																			-	TMEM132E	-	NULL		0.577	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132E	HGNC	protein_coding	OTTHUMT00000256440.2	0	0		39	39		0.00		C	NM_207313		32957125	+1	4		35		tier1	no_errors	ENST00000321639	ensembl	human	known	74_37	silent	10.26		SNP	1.000	T	4	35
CHDH	55349	genome.wustl.edu	37	3	53857394	53857394	+	Silent	SNP	G	G	A			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr3:53857394G>A	ENST00000315251.6	-	3	1079	c.642C>T	c.(640-642)acC>acT	p.T214T		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	214					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TCATGTCCTCGGTGAGCGGGT	0.627													ENSG00000016391																																					0													39.0	40.0	40.0					3																	53857394		2202	4300	6502	SO:0001819	synonymous_variant	0			-	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.642C>T	3.37:g.53857394G>A			Q9NY17	Silent	SNP	pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase	p.T214	ENST00000315251.6	37	c.642	CCDS2873.1	3																																																																																			-	CHDH	-	pfam_GMC_OxRdtase_N,pirsf_GMC_OxRdtase		0.627	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHDH	HGNC	protein_coding	OTTHUMT00000350567.2	0	0		66	66		0.00		G	NM_018397		53857394	-1	66		1		tier1	no_errors	ENST00000315251	ensembl	human	known	74_37	silent	98.51		SNP	0.043	A	66	1
PDSS2	57107	genome.wustl.edu	37	6	107475958	107475958	+	Silent	SNP	G	G	A			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr6:107475958G>A	ENST00000369037.4	-	8	1342	c.1065C>T	c.(1063-1065)ggC>ggT	p.G355G	PDSS2_ENST00000453874.2_Silent_p.G253G	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	355					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		TCACACCTTTGCCAGCTTTGA	0.458													ENSG00000164494																																					0													66.0	62.0	63.0					6																	107475958		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.1065C>T	6.37:g.107475958G>A			Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Silent	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.G355	ENST00000369037.4	37	c.1065	CCDS5059.1	6																																																																																			-	PDSS2	-	superfamily_Terpenoid_synth		0.458	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDSS2	HGNC	protein_coding	OTTHUMT00000131954.1	0	0		64	64		0.00		G	NM_020381		107475958	-1	35		5		tier1	no_errors	ENST00000369037	ensembl	human	known	74_37	silent	87.50		SNP	1.000	A	35	5
MCF2	4168	genome.wustl.edu	37	X	138774264	138774264	+	Silent	SNP	C	C	T			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chrX:138774264C>T	ENST00000370578.4	-	1	20	c.21G>A	c.(19-21)tcG>tcA	p.S7S	MCF2_ENST00000414978.1_Intron|MCF2_ENST00000519895.1_Intron|MCF2_ENST00000520602.1_5'UTR			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCCACGGCGCCGAAGCGGCAG	0.701													ENSG00000101977																																					0																																										SO:0001819	synonymous_variant	0			-		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370578.4:c.21G>A	X.37:g.138774264C>T			B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S7	ENST00000370578.4	37	c.21		X																																																																																			-	MCF2	-	NULL		0.701	MCF2-201	KNOWN	basic	protein_coding	MCF2	HGNC	protein_coding		0	0		48	48		0.00		C	NM_005369		138774264	-1	17		4		tier1	no_errors	ENST00000370578	ensembl	human	known	74_37	silent	80.95		SNP	0.000	T	17	4
KMT2C	58508	genome.wustl.edu	37	7	151962269	151962269	+	Silent	SNP	C	C	T			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr7:151962269C>T	ENST00000262189.6	-	8	1256	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	KMT2C_ENST00000355193.2_Silent_p.V346V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	346					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGCTGTCGCACACTGCACAGT	0.368													ENSG00000055609																																					0													108.0	97.0	101.0					7																	151962269		2203	4298	6501	SO:0001819	synonymous_variant	0			-	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1038G>A	7.37:g.151962269C>T			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.V346	ENST00000262189.6	37	c.1038	CCDS5931.1	7																																																																																			-	KMT2C	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger,pfscan_Znf_RING		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	1	1		136	136		0.73		C			151962269	-1	13		108		tier1	no_errors	ENST00000355193	ensembl	human	known	74_37	silent	10.74		SNP	1.000	T	13	108
TGFBRAP1	9392	genome.wustl.edu	37	2	105886143	105886143	+	Silent	SNP	G	G	A			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr2:105886143G>A	ENST00000393359.2	-	11	2418	c.1992C>T	c.(1990-1992)ggC>ggT	p.G664G	TGFBRAP1_ENST00000258449.1_Silent_p.G664G			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	664					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CCATGGGCAGGCCAGCTCCCT	0.657													ENSG00000135966																									Esophageal Squamous(183;794 2019 9730 21801 48859)												0													17.0	17.0	17.0					2																	105886143		2201	4298	6499	SO:0001819	synonymous_variant	0			-	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1992C>T	2.37:g.105886143G>A			A8K5R7|D3DVJ8|O60466	Silent	SNP	pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron	p.G664	ENST00000393359.2	37	c.1992	CCDS2067.1	2																																																																																			-	TGFBRAP1	-	pfam_Clathrin_H-chain/VPS_repeat		0.657	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBRAP1	HGNC	protein_coding	OTTHUMT00000253354.2	0	0		41	41		0.00		G	NM_004257		105886143	-1	4		20		tier1	no_errors	ENST00000258449	ensembl	human	known	74_37	silent	16.67		SNP	0.540	A	4	20
SCN2A	6326	genome.wustl.edu	37	2	166152401	166152401	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr2:166152401C>T	ENST00000375437.2	+	2	358	c.68C>T	c.(67-69)gCt>gTt	p.A23V	SCN2A_ENST00000375427.2_Missense_Mutation_p.A23V|SCN2A_ENST00000283256.6_Missense_Mutation_p.A23V|SCN2A_ENST00000357398.3_Missense_Mutation_p.A23V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	23					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAATCCCTTGCTGCTATTGAA	0.483													ENSG00000136531																																					0													86.0	77.0	80.0					2																	166152401		2203	4300	6503	SO:0001583	missense	0			-	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.68C>T	2.37:g.166152401C>T	ENSP00000364586:p.Ala23Val		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.A23V	ENST00000375437.2	37	c.68	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446288	0.63178	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000003	D	0.96346	0.8808	L	0.53617	1.68	0.47009	D	0.999283	D;P	0.56287	0.975;0.925	P;P	0.54544	0.755;0.574	D	0.95634	0.8692	10	0.44086	T	0.13	.	14.3619	0.66779	0.1479:0.8521:0.0:0.0	.	23;23	Q99250-2;Q99250	.;SCN2A_HUMAN	V	23	ENSP00000406454:A23V;ENSP00000364586:A23V;ENSP00000349973:A23V;ENSP00000283256:A23V;ENSP00000364576:A23V	ENSP00000283256:A23V	A	+	2	0	SCN2A	165860647	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.443000	0.44881	2.619000	0.88677	0.655000	0.94253	GCT	-	SCN2A	-	NULL		0.483	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	0	0		46	46		0.00		C	NM_021007		166152401	+1	4		37		tier1	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	9.76		SNP	1.000	T	4	37
GRP	2922	genome.wustl.edu	37	18	56892844	56892844	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr18:56892844T>C	ENST00000256857.2	+	2	358	c.260T>C	c.(259-261)cTc>cCc	p.L87P	GRP_ENST00000529320.2_Missense_Mutation_p.L87P|GRP_ENST00000420468.2_Missense_Mutation_p.L87P	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	87					neuropeptide signaling pathway (GO:0007218)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				TTGCTGGGTCTCATAGAAGCA	0.522													ENSG00000134443																																					0													109.0	104.0	106.0					18																	56892844		2203	4300	6503	SO:0001583	missense	0			-		CCDS11971.1, CCDS45877.1, CCDS45878.1	18q21.1-q21.32	2013-02-26			ENSG00000134443	ENSG00000134443		"""Endogenous ligands"""	4605	protein-coding gene	gene with protein product	"""bombesin"", ""neuromedin C"", ""prepro-GRP"""	137260					Standard	NM_002091		Approved		uc002lhv.3	P07492	OTTHUMG00000132760	ENST00000256857.2:c.260T>C	18.37:g.56892844T>C	ENSP00000256857:p.Leu87Pro		P07491|P81553|Q14454|Q53YA0|Q9BSY7	Missense_Mutation	SNP	pfam_Bombesin	p.L87P	ENST00000256857.2	37	c.260	CCDS11971.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.59|19.59	3.856123|3.856123	0.71834|0.71834	.|.	.|.	ENSG00000134443|ENSG00000134443	ENST00000256857;ENST00000529320;ENST00000420468|ENST00000456142	T;T;T|.	0.44083|.	0.93;0.98;0.94|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.215293|.	0.28021|.	N|.	0.016920|.	T|T	0.52240|0.52240	0.1722|0.1722	L|L	0.55990|0.55990	1.75|1.75	0.28068|0.28068	N|N	0.932685|0.932685	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.81914|.	0.974;0.972;0.995|.	T|T	0.49273|0.49273	-0.8957|-0.8957	10|5	0.87932|.	D|.	0|.	-8.04|-8.04	12.2639|12.2639	0.54665|0.54665	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	87;87;87|.	P07492-3;P07492;P07492-2|.	.;GRP_HUMAN;.|.	P|P	87|43	ENSP00000256857:L87P;ENSP00000434101:L87P;ENSP00000389696:L87P|.	ENSP00000256857:L87P|.	L|S	+|+	2|1	0|0	GRP|GRP	55043824|55043824	0.276000|0.276000	0.24211|0.24211	0.122000|0.122000	0.21767|0.21767	0.636000|0.636000	0.38137|0.38137	4.135000|4.135000	0.57997|0.57997	1.893000|1.893000	0.54813|0.54813	0.533000|0.533000	0.62120|0.62120	CTC|TCA	-	GRP	-	NULL		0.522	GRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRP	HGNC	protein_coding	OTTHUMT00000256131.2	0	0		57	57		0.00		T	NM_002091		56892844	+1	45		2		tier1	no_errors	ENST00000256857	ensembl	human	known	74_37	missense	95.74		SNP	0.088	C	45	2
SLC24A1	9187	genome.wustl.edu	37	15	65943029	65943029	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr15:65943029G>T	ENST00000261892.6	+	7	2829	c.2542G>T	c.(2542-2544)Gta>Tta	p.V848L	SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_Missense_Mutation_p.V830L|SLC24A1_ENST00000544319.2_Missense_Mutation_p.V734L|SLC24A1_ENST00000537259.1_Missense_Mutation_p.V830L|SLC24A1_ENST00000399033.4_Missense_Mutation_p.V848L|SLC24A1_ENST00000546330.1_Missense_Mutation_p.V830L	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	848					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGAGAAAGGTGTAGAAGATGG	0.498													ENSG00000074621																																					0													44.0	47.0	46.0					15																	65943029		2057	4181	6238	SO:0001583	missense	0			-	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2542G>T	15.37:g.65943029G>T	ENSP00000261892:p.Val848Leu		O43485|O75184|Q17RM9	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger	p.V848L	ENST00000261892.6	37	c.2542	CCDS45284.1	15	.	.	.	.	.	.	.	.	.	.	G	9.579	1.123009	0.20959	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.64260	0.23;0.0;1.98;1.98;-0.09;1.98	3.81	-7.24	0.01475	.	7.022360	0.00644	N	0.000537	T	0.39963	0.1098	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.10296	0.002;0.001;0.002;0.002;0.003;0.002	B;B;B;B;B;B	0.09377	0.002;0.004;0.002;0.002;0.004;0.002	T	0.43540	-0.9385	10	0.10111	T	0.7	.	15.7549	0.78015	0.2685:0.0:0.7315:0.0	.	175;830;848;848;830;830	B4DUG1;O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;.;NCKX1_HUMAN;.;.	L	830;848;830;734;848;830	ENSP00000439693:V830L;ENSP00000261892:V848L;ENSP00000341837:V830L;ENSP00000445163:V734L;ENSP00000381991:V848L;ENSP00000439190:V830L	ENSP00000261892:V848L	V	+	1	0	SLC24A1	63730083	0.005000	0.15991	0.000000	0.03702	0.072000	0.16883	0.309000	0.19332	-1.503000	0.01812	-0.734000	0.03567	GTA	-	SLC24A1	-	tigrfam_K/Na/Ca-exchanger		0.498	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A1	HGNC	protein_coding	OTTHUMT00000397304.1	0	0		94	94		0.00		G	NM_004727		65943029	+1	4		33		tier1	no_errors	ENST00000261892	ensembl	human	known	74_37	missense	10.81		SNP	0.000	T	4	33
ZMYND11	10771	genome.wustl.edu	37	10	226039	226039	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr10:226039G>C	ENST00000397962.3	+	2	515	c.87G>C	c.(85-87)aaG>aaC	p.K29N	ZMYND11_ENST00000602682.1_Missense_Mutation_p.K29N|ZMYND11_ENST00000397959.3_Missense_Mutation_p.K29N|ZMYND11_ENST00000381584.1_5'UTR|ZMYND11_ENST00000309776.4_5'UTR|ZMYND11_ENST00000381602.4_5'UTR|ZMYND11_ENST00000381607.4_5'UTR|ZMYND11_ENST00000558098.2_Missense_Mutation_p.K29N|ZMYND11_ENST00000381591.1_Missense_Mutation_p.K29N|ZMYND11_ENST00000402736.1_Missense_Mutation_p.K29N|ZMYND11_ENST00000403354.1_Missense_Mutation_p.K29N|ZMYND11_ENST00000381604.4_5'UTR|ZMYND11_ENST00000509513.2_Missense_Mutation_p.K29N			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	29					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGAACCAGAAGCAGATTGCCA	0.388													ENSG00000015171																																					0													123.0	112.0	115.0					10																	226039		1568	3582	5150	SO:0001583	missense	0			-	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.87G>C	10.37:g.226039G>C	ENSP00000381053:p.Lys29Asn		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.K29N	ENST00000397962.3	37	c.87	CCDS7052.2	10	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091112	0.76756	.	.	ENSG00000015171	ENST00000439456;ENST00000397962;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000402736;ENST00000397955	.	.	.	6.02	6.02	0.97574	.	0.000000	0.64402	U	0.000006	T	0.58380	0.2118	L	0.27053	0.805	0.32847	D	0.506170	D;D;D;D;D;D;D	0.89917	0.999;0.981;1.0;0.999;0.999;0.998;0.999	D;D;D;D;D;D;D	0.80764	0.957;0.95;0.946;0.994;0.946;0.991;0.994	T	0.58160	-0.7685	8	0.26408	T	0.33	-18.3754	13.7061	0.62639	0.07:0.0:0.93:0.0	.	29;29;29;29;29;29;29	Q2LD45;B7Z293;B7Z2J6;Q2LD48;Q2LD46;Q2LD47;E7ENI9	.;.;.;.;.;.;.	N	29	.	ENSP00000371003:K29N	K	+	3	2	ZMYND11	216039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.122000	0.50446	2.850000	0.98022	0.650000	0.86243	AAG	-	ZMYND11	-	NULL		0.388	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND11	HGNC	protein_coding	OTTHUMT00000046382.4	0	0		122	122		0.00		G	NM_006624		226039	+1	56		8		tier1	no_errors	ENST00000381591	ensembl	human	known	74_37	missense	87.50		SNP	1.000	C	56	8
FCRL5	83416	genome.wustl.edu	37	1	157490262	157490262	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr1:157490262G>A	ENST00000361835.3	-	12	2748	c.2591C>T	c.(2590-2592)gCg>gTg	p.A864V	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.A864V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	864					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGTGCCCCCGCAGCAAGGCC	0.627													ENSG00000143297																																					0													27.0	27.0	27.0					1																	157490262		2198	4293	6491	SO:0001583	missense	0			-	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2591C>T	1.37:g.157490262G>A	ENSP00000354691:p.Ala864Val		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A864V	ENST00000361835.3	37	c.2591	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747524	0.30955	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.42900	0.96;0.97	4.72	0.266	0.15617	.	.	.	.	.	T	0.09555	0.0235	L	0.41710	1.295	0.09310	N	1	P;P	0.44659	0.84;0.694	B;B	0.32090	0.14;0.061	T	0.11616	-1.0580	9	0.35671	T	0.21	.	3.636	0.08148	0.3758:0.2124:0.4118:0.0	.	864;864	A6NJE8;Q96RD9	.;FCRL5_HUMAN	V	864	ENSP00000354691:A864V;ENSP00000349434:A864V	ENSP00000349434:A864V	A	-	2	0	FCRL5	155756886	0.002000	0.14202	0.000000	0.03702	0.177000	0.22998	0.602000	0.24134	0.170000	0.19704	0.460000	0.39030	GCG	-	FCRL5	-	NULL		0.627	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	0	0		16	16		0.00		G	NM_031281		157490262	-1	4		12		tier1	no_errors	ENST00000356953	ensembl	human	known	74_37	missense	25.00		SNP	0.000	A	4	12
ZNF610	162963	genome.wustl.edu	37	19	52857573	52857573	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr19:52857573G>A	ENST00000403906.3	+	5	716	c.260G>A	c.(259-261)aGt>aAt	p.S87N	ZNF610_ENST00000321287.8_Missense_Mutation_p.S87N|ZNF610_ENST00000327920.8_Missense_Mutation_p.S87N|ZNF610_ENST00000601151.1_Intron	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	87	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ATTCTGCAAAGTCAAGTTAAA	0.388													ENSG00000167554																																					0													83.0	86.0	85.0					19																	52857573		2203	4300	6503	SO:0001583	missense	0			-	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.260G>A	19.37:g.52857573G>A	ENSP00000383922:p.Ser87Asn		A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S87N	ENST00000403906.3	37	c.260	CCDS12851.1	19	.	.	.	.	.	.	.	.	.	.	G	6.865	0.528902	0.13127	.	.	ENSG00000167554	ENST00000403906;ENST00000327920	T;T	0.05382	3.45;3.45	1.21	1.21	0.21127	Krueppel-associated box (1);	.	.	.	.	T	0.04227	0.0117	L	0.45137	1.4	0.09310	N	1	P	0.45531	0.86	B	0.33042	0.157	T	0.40327	-0.9569	9	0.22109	T	0.4	.	5.813	0.18477	0.0:0.0:1.0:0.0	.	87	Q8N9Z0	ZN610_HUMAN	N	87	ENSP00000383922:S87N;ENSP00000327597:S87N	ENSP00000327597:S87N	S	+	2	0	ZNF610	57549385	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.079000	0.11357	0.959000	0.37980	0.514000	0.50259	AGT	-	ZNF610	-	pfscan_Krueppel-associated_box		0.388	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF610	HGNC	protein_coding	OTTHUMT00000462880.1	0	0		62	62		0.00		G	NM_173530		52857573	+1	4		37		tier1	no_errors	ENST00000321287	ensembl	human	known	74_37	missense	9.76		SNP	0.002	A	4	37
CACNA1H	8912	genome.wustl.edu	37	16	1256105	1256105	+	Splice_Site	SNP	G	G	A	rs531253297		TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr16:1256105G>A	ENST00000348261.5	+	12	2853	c.2605G>A	c.(2605-2607)Gtc>Atc	p.V869I	CACNA1H_ENST00000358590.4_Splice_Site_p.V869I|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000565831.1_Splice_Site_p.V869I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	869					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TGTCCGCAGCGTCTGGGAGAT	0.701													ENSG00000196557	G|||	1	0.000199681	0.0008	0.0	5008	,	,		15228	0.0		0.0	False		,,,				2504	0.0																0													14.0	19.0	17.0					16																	1256105		2043	4174	6217	SO:0001630	splice_region_variant	0			-	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2604-1G>A	16.37:g.1256105G>A			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.V869I	ENST00000348261.5	37	c.2605	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676764	0.67928	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98249	-4.82;-4.82	3.96	3.96	0.45880	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.96546	0.8873	N	0.04636	-0.2	0.45452	D	0.998423	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.95565	0.8633	10	0.25106	T	0.35	.	15.1886	0.73025	0.0:0.0:1.0:0.0	.	869;869	O95180-2;O95180	.;CAC1H_HUMAN	I	869	ENSP00000334198:V869I;ENSP00000351401:V869I	ENSP00000334198:V869I	V	+	1	0	CACNA1H	1196106	1.000000	0.71417	0.994000	0.49952	0.854000	0.48673	4.183000	0.58317	2.050000	0.60909	0.561000	0.74099	GTC	-	CAC1H	-	pfam_Ion_trans_dom		0.701	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CAC1H	HGNC	protein_coding	OTTHUMT00000421601.1	0	0		32	32		0.00		G	NM_001005407	Missense_Mutation	1256105	+1	32		0		tier1	no_errors	ENST00000348261	ensembl	human	known	74_37	missense	100.00		SNP	1.000	A	32	0
NTNG2	84628	genome.wustl.edu	37	9	135116314	135116314	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr9:135116314A>G	ENST00000393229.3	+	7	2016	c.1240A>G	c.(1240-1242)Ata>Gta	p.I414V	NTNG2_ENST00000360670.3_Missense_Mutation_p.I420V|NTNG2_ENST00000393228.4_Missense_Mutation_p.I406V|NTNG2_ENST00000490694.1_3'UTR	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	414	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CTGCAACCAGATAGGCTCCGT	0.701													ENSG00000196358																																					0													46.0	42.0	43.0					9																	135116314		2202	4300	6502	SO:0001583	missense	0			-	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1240A>G	9.37:g.135116314A>G	ENSP00000376921:p.Ile414Val		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.I420V	ENST00000393229.3	37	c.1258	CCDS6946.1	9	.	.	.	.	.	.	.	.	.	.	A	3.940	-0.014504	0.07681	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670	T;T;T	0.60548	0.18;0.18;0.18	4.46	4.46	0.54185	EGF-like, laminin (3);	0.127925	0.50627	D	0.000113	T	0.31009	0.0783	N	0.10707	0.03	0.80722	D	1	B	0.26002	0.139	B	0.25405	0.06	T	0.15723	-1.0427	10	0.07030	T	0.85	.	9.571	0.39427	0.8234:0.1766:0.0:0.0	.	414	Q96CW9	NTNG2_HUMAN	V	414;406;420	ENSP00000376921:I414V;ENSP00000376920:I406V;ENSP00000353888:I420V	ENSP00000353888:I420V	I	+	1	0	NTNG2	134106135	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	2.715000	0.47210	1.773000	0.52216	0.459000	0.35465	ATA	-	NTNG2	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.701	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	HGNC	protein_coding	OTTHUMT00000054779.1	0	0		42	42		0.00		A	NM_032536		135116314	+1	55		0		tier1	no_errors	ENST00000360670	ensembl	human	known	74_37	missense	100.00		SNP	1.000	G	55	0
KRTAP5-5	439915	genome.wustl.edu	37	11	1651210	1651239	+	In_Frame_Del	DEL	GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	-	rs190828070|rs553119014|rs71454096|rs117674201|rs369130959	byFrequency	TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr11:1651210_1651239delGCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	ENST00000399676.2	+	1	178_207	c.140_169delGCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	c.(139-171)ggctgtggctccggctgtgcgggctgtggggga>gga	p.47_57GCGSGCAGCGG>G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47				A -> G (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)		p.A53A(1)|p.G54V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ggctgtgggggctgtggctccggctgtgcgggctgtgggggatgtggctc	0.691													ENSG00000185940																																					2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|kidney(1)																																								SO:0001651	inframe_deletion	0				AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.140_169delGCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	11.37:g.1651210_1651239delGCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	ENSP00000382584:p.Gly47_Gly56del		A8MWN2	In_Frame_Del	DEL	NULL	p.GCAGCGGCGS51in_frame_del	ENST00000399676.2	37	c.140_169	CCDS41592.1	11																																																																																				KRTAP5-5	-	NULL		0.691	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	HGNC	protein_coding	OTTHUMT00000127919.1									GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG			1651239	+1					tier1	no_errors	ENST00000399676	ensembl	human	known	74_37	in_frame_del			DEL	0.818:0.967:0.993:0.997:0.997:0.999:1.000:0.998:0.998:0.991:0.983:0.976:1.000:1.000:0.999:0.995:0.061:0.083:0.113:0.325:0.996:0.999:1.000:1.000:0.999:0.994:0.996:0.995:0.546:0.579	-		
CXCL8	3576	genome.wustl.edu	37	4	74607335	74607356	+	Frame_Shift_Del	DEL	ATTTATCAAAGAACTGAGAGTG	ATTTATCAAAGAACTGAGAGTG	-	rs369065964|rs200090643|rs145018121	byFrequency	TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	ATTTATCAAAGAACTGAGAGTG	ATTTATCAAAGAACTGAGAGTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr4:74607335_74607356delATTTATCAAAGAACTGAGAGTG	ENST00000307407.3	+	2	294_315	c.141_162delATTTATCAAAGAACTGAGAGTG	c.(139-162)aaatttatcaaagaactgagagtgfs	p.KFIKELRV47fs	IL8_ENST00000401931.1_Frame_Shift_Del_p.KFIKELRV47fs	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN		47					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of neutrophil chemotaxis (GO:0090023)|receptor internalization (GO:0031623)|regulation of cell adhesion (GO:0030155)|regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091)|response to endoplasmic reticulum stress (GO:0034976)|response to molecule of bacterial origin (GO:0002237)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|interleukin-8 receptor binding (GO:0005153)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)		TCCACCCCAAATTTATCAAAGAACTGAGAGTGATTGAGAGTG	0.369													ENSG00000169429																																					0																																										SO:0001589	frameshift_variant	0																															ENST00000307407.3:c.141_162delATTTATCAAAGAACTGAGAGTG	4.37:g.74607335_74607356delATTTATCAAAGAACTGAGAGTG	ENSP00000306512:p.Lys47fs		B2R4L8|Q6FGF6|Q6LAE6|Q96RG6|Q9C077|Q9UCE1|Q9UCR8|Q9UCR9|Q9UCS0	Frame_Shift_Del	DEL	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC	p.F48fs	ENST00000307407.3	37	c.141_162	CCDS34005.1	4																																																																																				IL8	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom		0.369	IL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL8	HGNC	protein_coding	OTTHUMT00000322211.1									ATTTATCAAAGAACTGAGAGTG			74607356	+1					tier1	no_errors	ENST00000307407	ensembl	human	known	74_37	frame_shift_del			DEL	0.497:0.041:0.001:0.007:0.844:0.926:0.923:0.931:0.978:0.993:0.998:0.998:0.984:0.984:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000	-		
CXADRP3	440224	genome.wustl.edu	37	18	14478302	14478302	+	lincRNA	SNP	T	T	A			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr18:14478302T>A	ENST00000581457.1	-	0	1606					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		CTTCACTCGGTACTTGTTTAT	0.493													ENSG00000265766																																					0																																												0			-			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478302T>A				R	SNP	-	NULL	ENST00000581457.1	37	NULL		18																																																																																			-	CXADRP3	-	-		0.493	CXADRP3-001	KNOWN	basic	lincRNA	CXADRP3	HGNC	lincRNA	OTTHUMT00000443008.1	0	0		60	60		0.00		T	NR_024076		14478302	-1	50		0		tier1	no_errors	ENST00000581457	ensembl	human	known	74_37	rna	100.00		SNP	0.999	A	50	0
IGSF3	3321	genome.wustl.edu	37	1	117142613	117142613	+	Missense_Mutation	SNP	C	C	T	rs76151115	byFrequency	TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr1:117142613C>T	ENST00000369486.3	-	7	2744	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	IGSF3_ENST00000318837.6_Missense_Mutation_p.R680Q|IGSF3_ENST00000369483.1_Missense_Mutation_p.R680Q	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	660	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTCCGCCAGTCGCGTCCAGGT	0.612													ENSG00000143061																																					0													69.0	54.0	59.0					1																	117142613		2203	4300	6503	SO:0001583	missense	0			-	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1979G>A	1.37:g.117142613C>T	ENSP00000358498:p.Arg660Gln		A6NJZ6|A6NMC7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.R680Q	ENST00000369486.3	37	c.2039	CCDS30813.1	1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979753	0.34942	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03212	4.01;4.04;4.04	4.56	2.7	0.31948	Immunoglobulin subtype (1);	0.270543	0.31010	N	0.008430	T	0.01353	0.0044	L	0.29908	0.895	0.36040	D	0.840027	D;D;D	0.59767	0.982;0.986;0.986	B;P;P	0.45310	0.345;0.476;0.476	T	0.64071	-0.6493	10	0.22706	T	0.39	-28.9658	8.7768	0.34767	0.0:0.8142:0.0:0.1858	.	680;660;680	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	Q	660;680;680	ENSP00000358498:R660Q;ENSP00000358495:R680Q;ENSP00000321184:R680Q	ENSP00000321184:R680Q	R	-	2	0	IGSF3	116944136	0.789000	0.28775	0.602000	0.28890	0.526000	0.34562	2.194000	0.42668	0.550000	0.28991	-0.384000	0.06662	CGA	rs76151115	IGSF3	-	smart_Ig_sub		0.612	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1	0	0		45	45		0.00		C	NM_001542		117142613	-1	15		50		tier1	no_errors	ENST00000318837	ensembl	human	known	74_37	missense	23.08		SNP	0.716	T	15	50
EHD2	30846	genome.wustl.edu	37	19	48220051	48220051	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr19:48220051T>G	ENST00000263277.3	+	2	433	c.182T>G	c.(181-183)gTg>gGg	p.V61G	EHD2_ENST00000538399.1_Intron|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	61	Dynamin-type G.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		AAGCCCATGGTGCTGGTGGCC	0.682													ENSG00000024422																																					0													39.0	32.0	34.0					19																	48220051		2203	4300	6503	SO:0001583	missense	0			-	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.182T>G	19.37:g.48220051T>G	ENSP00000263277:p.Val61Gly		B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.V61G	ENST00000263277.3	37	c.182	CCDS12704.1	19	.	.	.	.	.	.	.	.	.	.	T	21.1	4.093018	0.76756	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364	D	0.97256	-4.31	3.75	3.75	0.43078	Dynamin, GTPase domain (1);	0.000000	0.64402	D	0.000001	D	0.98648	0.9547	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99032	1.0821	10	0.87932	D	0	-41.4715	10.7135	0.45997	0.0:0.0:0.0:1.0	.	61	Q9NZN4	EHD2_HUMAN	G	61	ENSP00000263277:V61G	ENSP00000263277:V61G	V	+	2	0	EHD2	52911863	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.706000	0.84615	1.716000	0.51395	0.334000	0.21626	GTG	-	EHD2	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase		0.682	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD2	HGNC	protein_coding	OTTHUMT00000465851.1	0	0		83	83		0.00		T			48220051	+1	69		6		tier1	no_errors	ENST00000263277	ensembl	human	known	74_37	missense	92.00		SNP	1.000	G	69	6
NPSR1	387129	genome.wustl.edu	37	7	34800738	34800738	+	Intron	SNP	T	T	G			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr7:34800738T>G	ENST00000360581.1	+	3	408				NPSR1_ENST00000381553.3_Intron|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000381539.3_Intron|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000531252.1_Intron	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGCTTCACACtgcattctttg	0.463													ENSG00000197085																																					0																																										SO:0001627	intron_variant	0			-	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.281-17336T>G	7.37:g.34800738T>G			A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	R	SNP	-	NULL	ENST00000360581.1	37	NULL	CCDS5444.1	7																																																																																			-	NPSR1-AS1	-	-		0.463	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPSR1-AS1	HGNC	protein_coding	OTTHUMT00000216837.1	0	0		92	92		0.00		T	NM_207173		34800738	-1	45		27		tier1	no_errors	ENST00000419766	ensembl	human	known	74_37	rna	62.50		SNP	0.001	G	45	27
TNXB	7148	genome.wustl.edu	37	6	32064925	32064925	+	Silent	SNP	G	G	A	rs150957138		TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr6:32064925G>A	ENST00000479795.1	-	3	845	c.705C>T	c.(703-705)tgC>tgT	p.C235C	TNXB_ENST00000375247.2_Silent_p.C235C|TNXB_ENST00000375244.3_Silent_p.C235C			P22105	TENX_HUMAN	tenascin XB	235	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGCCTGCCCGGCACACACACA	0.706													ENSG00000168477																																					0													19.0	23.0	22.0					6																	32064925		2145	4231	6376	SO:0001819	synonymous_variant	0			-	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.705C>T	6.37:g.32064925G>A			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.C235	ENST00000479795.1	37	c.705		6																																																																																			-	TNXB	-	pfam_EGF_extracell,smart_EG-like_dom		0.706	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000357059.1	0	0		40	40		0.00		G	NM_019105		32064925	-1	4		27		tier1	no_errors	ENST00000375247	ensembl	human	known	74_37	silent	12.90		SNP	0.052	A	4	27
TP53	7157	genome.wustl.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr17:7577105G>T	ENST00000269305.4	-	8	1022	c.833C>A	c.(832-834)cCt>cAt	p.P278H	TP53_ENST00000445888.2_Missense_Mutation_p.P278H|TP53_ENST00000359597.4_Missense_Mutation_p.P278H|TP53_ENST00000420246.2_Missense_Mutation_p.P278H|TP53_ENST00000455263.2_Missense_Mutation_p.P278H|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCTCTCCCAGGACAGGCACA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			ENSG00000141510																									Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(1)	GRCh37	CM961376	TP53	M							72.0	63.0	66.0					17																	7577105		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	-	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.833C>A	17.37:g.7577105G>T	ENSP00000269305:p.Pro278His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.P278H	ENST00000269305.4	37	c.833	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532212	0.85812	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99887	-7.53;-7.53;-7.53;-7.53;-7.53;-7.53	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96442	0.9327	10	0.87932	D	0	-13.7877	11.4227	0.49991	0.0873:0.0:0.9127:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	278;278;278;278;278;267;146	ENSP00000352610:P278H;ENSP00000269305:P278H;ENSP00000398846:P278H;ENSP00000391127:P278H;ENSP00000391478:P278H;ENSP00000425104:P146H	ENSP00000269305:P278H	P	-	2	0	TP53	7517830	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.573000	0.98181	1.392000	0.46585	0.462000	0.41574	CCT	-	TP53	-	pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	0	0		29	29		0.00		G	NM_000546		7577105	-1	37		1		tier1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	97.37		SNP	1.000	T	37	1
TAS2R14	50840	genome.wustl.edu	37	12	11230465	11230465	+	Intron	SNP	C	C	T	rs78048403		TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr12:11230465C>T	ENST00000381852.4	-	2	152				TAS2R64P_ENST00000534866.1_RNA|PRR4_ENST00000536668.1_Intron			Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14						detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						AACAACACTCCTAATTCTCTT	0.388													ENSG00000256274																																					0																																										SO:0001627	intron_variant	0			-	AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000381852.4:c.1511-30678G>A	12.37:g.11230465C>T			Q645X3	R	SNP	-	NULL	ENST00000381852.4	37	NULL		12																																																																																			rs78048403	TAS2R64P	-	-		0.388	TAS2R14-002	KNOWN	basic	processed_transcript	TAS2R64P	HGNC	protein_coding	OTTHUMT00000402305.1	0	0		72	72		0.00		C	NM_023922		11230465	-1	9		34		tier1	no_errors	ENST00000534866	ensembl	human	known	74_37	rna	20.93		SNP	0.002	T	9	34
AAK1	22848	genome.wustl.edu	37	2	69688632	69688632	+	3'UTR	DEL	A	A	-			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr2:69688632delA	ENST00000409068.1	-	0	2505				RP11-427H3.3_ENST00000606389.2_lincRNA			Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1						endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ATGCATCACCAAAAAAAAAAA	0.328													ENSG00000188971																																					0																																										SO:0001624	3_prime_UTR_variant	0				AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409068.1:c.*167T>-	2.37:g.69688632delA			Q4ZFZ3|Q53RX6|Q9UPV4	R	DEL	-	NULL	ENST00000409068.1	37	NULL		2																																																																																				RP11-427H3.3	-	-		0.328	AAK1-011	PUTATIVE	basic	protein_coding	ENSG00000188971	Clone_based_vega_gene	protein_coding	OTTHUMT00000333994.1	0	0		14	14		0.00		A	NM_014911		69688632	-1	2		11		tier1	no_errors	ENST00000339092	ensembl	human	known	74_37	rna	15.38		DEL	0.000	-	2	11
FAT3	120114	genome.wustl.edu	37	11	92615944	92615944	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr11:92615944G>T	ENST00000298047.6	+	23	12339	c.12322G>T	c.(12322-12324)Gag>Tag	p.E4108*	FAT3_ENST00000533797.1_Nonsense_Mutation_p.E443*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.E4108*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.E3958*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4108	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAGGAGTGTGAGAACGGAGG	0.632										TCGA Ovarian(4;0.039)			ENSG00000165323																																					0													66.0	88.0	81.0					11																	92615944		2166	4248	6414	SO:0001587	stop_gained	0			-	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12322G>T	11.37:g.92615944G>T	ENSP00000298047:p.Glu4108*		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,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,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.E4108*	ENST00000298047.6	37	c.12322		11	.	.	.	.	.	.	.	.	.	.	G	39	7.359329	0.98235	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	.	.	.	5.37	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	14.3253	0.66515	0.0718:0.0:0.9282:0.0	.	.	.	.	X	4108;4108;3958;443	.	ENSP00000298047:E4108X	E	+	1	0	FAT3	92255592	1.000000	0.71417	0.995000	0.50966	0.883000	0.51084	5.499000	0.66937	1.401000	0.46761	0.655000	0.94253	GAG	-	FAT3	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.632	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		0	0		35	35		0.00		G	NM_001008781		92615944	+1	4		41		tier1	no_errors	ENST00000298047	ensembl	human	known	74_37	nonsense	8.89		SNP	1.000	T	4	41
NF1	4763	genome.wustl.edu	37	17	29527470	29527471	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr17:29527470_29527471insT	ENST00000358273.4	+	9	1302_1303	c.919_920insT	c.(919-921)cttfs	p.L307fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.L307fs|NF1_ENST00000431387.4_Frame_Shift_Ins_p.L307fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	307					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACGAAAAGCTCTTGCTGGCCAT	0.371			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			ENSG00000196712																											yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)																																								SO:0001589	frameshift_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome			CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.921dupT	17.37:g.29527472_29527472dupT	ENSP00000351015:p.Leu307fs		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.A308fs	ENST00000358273.4	37	c.919_920	CCDS42292.1	17																																																																																				NF1	-	superfamily_ARM-type_fold		0.371	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	0	0		120	120		0.00		-	NM_000267		29527471	+1	63		11		tier1	no_errors	ENST00000358273	ensembl	human	known	74_37	frame_shift_ins	85.14		INS	0.968:0.970	T	63	11
DNAH3	55567	genome.wustl.edu	37	16	21049179	21049179	+	Silent	SNP	G	G	T			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr16:21049179G>T	ENST00000261383.3	-	34	4853	c.4854C>A	c.(4852-4854)ctC>ctA	p.L1618L	DNAH3_ENST00000415178.1_Silent_p.L1618L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1618					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGGATACTTGAGCTTCAGGT	0.517													ENSG00000158486																																					0													131.0	105.0	114.0					16																	21049179		2201	4300	6501	SO:0001819	synonymous_variant	0			-	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4854C>A	16.37:g.21049179G>T			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.L1618	ENST00000261383.3	37	c.4854	CCDS10594.1	16																																																																																			-	DH3	-	NULL		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH3	HGNC	protein_coding	OTTHUMT00000207361.1	0	0		65	65		0.00		G	NM_017539		21049179	-1	4		44		tier1	no_errors	ENST00000261383	ensembl	human	known	74_37	silent	8.33		SNP	0.990	T	4	44
WDFY4	57705	genome.wustl.edu	37	10	49984994	49984994	+	Silent	SNP	G	G	T			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr10:49984994G>T	ENST00000325239.5	+	15	3090	c.3063G>T	c.(3061-3063)tcG>tcT	p.S1021S	WDFY4_ENST00000413659.2_Intron	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	1021						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						TGGCCCCATCGTTTGTGGAAT	0.483													ENSG00000128815																																					0													50.0	41.0	44.0					10																	49984994		692	1591	2283	SO:0001819	synonymous_variant	0			-	AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.3063G>T	10.37:g.49984994G>T			B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1021	ENST00000325239.5	37	c.3063	CCDS44385.1	10	.	.	.	.	.	.	.	.	.	.	G	4.327	0.060100	0.08339	.	.	ENSG00000128815	ENST00000312002	.	.	.	5.67	-11.3	0.00108	.	.	.	.	.	T	0.45955	0.1368	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65582	-0.6133	4	.	.	.	.	8.2616	0.31788	0.3516:0.4512:0.1346:0.0625	.	.	.	.	F	112	.	.	V	+	1	0	WDFY4	49655000	0.000000	0.05858	0.004000	0.12327	0.555000	0.35460	-3.666000	0.00399	-4.677000	0.00036	-1.045000	0.02358	GTT	-	WDFY4	-	NULL		0.483	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		0	0		53	53		0.00		G	XM_033379		49984994	+1	4		45		tier1	no_errors	ENST00000325239	ensembl	human	known	74_37	silent	8.16		SNP	0.003	T	4	45
MYO15A	51168	genome.wustl.edu	37	17	18023246	18023246	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr17:18023246G>A	ENST00000205890.5	+	2	1470	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	378					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCACTACACCGTCCCCTATGC	0.597													ENSG00000091536																																					0													82.0	90.0	88.0					17																	18023246		1960	4142	6102	SO:0001583	missense	0			-	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1132G>A	17.37:g.18023246G>A	ENSP00000205890:p.Val378Ile		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.V378I	ENST00000205890.5	37	c.1132	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.131211	0.00338	.	.	ENSG00000091536	ENST00000205890	D	0.88975	-2.45	4.42	-3.11	0.05299	.	.	.	.	.	T	0.72526	0.3471	N	0.11560	0.145	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.57556	-0.7791	9	0.20519	T	0.43	.	5.8961	0.18939	0.2623:0.4007:0.337:0.0	.	378	Q9UKN7	MYO15_HUMAN	I	378	ENSP00000205890:V378I	ENSP00000205890:V378I	V	+	1	0	MYO15A	17963971	0.000000	0.05858	0.002000	0.10522	0.222000	0.24845	-0.795000	0.04580	-0.403000	0.07622	0.561000	0.74099	GTC	-	MYO15A	-	NULL		0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	0	0		83	83		0.00		G	NM_016239		18023246	+1	8		50		tier1	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	13.79		SNP	0.000	A	8	50
EED	8726	genome.wustl.edu	37	11	85977214	85977214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr11:85977214delT	ENST00000263360.6	+	8	1502	c.816delT	c.(814-816)aatfs	p.N272fs	EED_ENST00000351625.6_Frame_Shift_Del_p.N272fs|EED_ENST00000327320.4_Frame_Shift_Del_p.N272fs|EED_ENST00000528180.1_Intron	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	272	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GAATGATGAATGCAATTAAGG	0.299													ENSG00000074266																																					0													84.0	95.0	91.0					11																	85977214		2202	4283	6485	SO:0001589	frameshift_variant	0				AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.816delT	11.37:g.85977214delT	ENSP00000263360:p.Asn272fs		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N272fs	ENST00000263360.6	37	c.816	CCDS8273.1	11																																																																																				EED	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.299	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EED	HGNC	protein_coding	OTTHUMT00000393733.1	0	0		152	152		0.00		T	NM_003797		85977214	+1	88		15		tier1	no_errors	ENST00000263360	ensembl	human	known	74_37	frame_shift_del	85.44		DEL	1.000	-	88	15
TSC22D1	8848	genome.wustl.edu	37	13	45008959	45008959	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr13:45008959G>T	ENST00000458659.2	-	3	3515	c.3025C>A	c.(3025-3027)Caa>Aaa	p.Q1009K	TSC22D1_ENST00000261489.2_Missense_Mutation_p.Q80K|RP11-71C5.2_ENST00000426579.2_RNA|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	1009	Leucine-zipper.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCTTTGATTTGCTCTTTGAGG	0.443													ENSG00000102804																																					0													92.0	102.0	98.0					13																	45008959		2203	4300	6503	SO:0001583	missense	0			-	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.3025C>A	13.37:g.45008959G>T	ENSP00000397435:p.Gln1009Lys		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.Q1009K	ENST00000458659.2	37	c.3025	CCDS31966.1	13	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294598	0.60086	.	.	ENSG00000102804	ENST00000458659;ENST00000261489	T	0.39056	1.1	5.76	4.92	0.64577	.	0.335061	0.22381	N	0.060817	T	0.51568	0.1682	L	0.33137	0.985	0.80722	D	1	D;D	0.76494	0.999;0.982	D;D	0.81914	0.995;0.968	T	0.47636	-0.9102	10	0.39692	T	0.17	.	12.5621	0.56288	0.08:0.0:0.92:0.0	.	1009;80	Q15714;Q15714-2	T22D1_HUMAN;.	K	1009;80	ENSP00000397435:Q1009K	ENSP00000261489:Q80K	Q	-	1	0	TSC22D1	43906959	1.000000	0.71417	0.995000	0.50966	0.857000	0.48899	9.869000	0.99810	1.440000	0.47531	-0.136000	0.14681	CAA	-	TSC22D1	-	pfam_TSC-22_Dip_Bun		0.443	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	TSC22D1	HGNC	protein_coding	OTTHUMT00000044743.2	0	0		49	49		0.00		G	NM_006022		45008959	-1	4		41		tier1	no_errors	ENST00000458659	ensembl	human	known	74_37	missense	8.89		SNP	1.000	T	4	41
NBPF14	25832	genome.wustl.edu	37	1	148023129	148023129	+	Missense_Mutation	SNP	C	C	G	rs202128472	byFrequency	TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr1:148023129C>G	ENST00000369219.1	-	4	379	c.363G>C	c.(361-363)gaG>gaC	p.E121D				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	121	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCTTCTGCATCTCCCTGATGA	0.512													ENSG00000122497																																					0																																										SO:0001583	missense	0			-	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.363G>C	1.37:g.148023129C>G	ENSP00000358221:p.Glu121Asp		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	pfam_NBPF_dom	p.E121D	ENST00000369219.1	37	c.363		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.16|11.16	1.556734|1.556734	0.27827|0.27827	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219|ENST00000310701;ENST00000444640;ENST00000431121;ENST00000436356;ENST00000448574;ENST00000458135;ENST00000392972;ENST00000426874	T|.	0.09723|.	2.95|.	.|.	.|.	.|.	DUF1220 (2);|.	.|.	.|.	.|.	.|.	T|T	0.60104|0.60104	0.2243|0.2243	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	D;P|.	0.71674|.	0.998;0.936|.	D;D|.	0.79784|.	0.993;0.924|.	T|T	0.60707|0.60707	-0.7210|-0.7210	8|4	0.72032|.	D|.	0.01|.	.|.	5.844|5.844	0.18652|0.18652	0.0:0.9991:0.0:9.0E-4|0.0:0.9991:0.0:9.0E-4	.|.	121;386|.	Q5TI25;Q5VTG7|.	NBPFE_HUMAN;.|.	D|T	121|127;132;132;132;132;132;132;132	ENSP00000358221:E121D|.	ENSP00000358221:E121D|.	E|R	-|-	3|2	2|0	NBPF14|NBPF14	146489753|146489753	0.985000|0.985000	0.35326|0.35326	0.183000|0.183000	0.23137|0.23137	0.228000|0.228000	0.25075|0.25075	1.124000|1.124000	0.31320|0.31320	0.064000|0.064000	0.16427|0.16427	0.064000|0.064000	0.15345|0.15345	GAG|AGA	rs202128472	NBPF14	-	pfam_NBPF_dom		0.512	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	NBPF14	HGNC	protein_coding		0	0		22	22		0.00		C	NM_015383		148023129	-1	4		6		tier1	no_errors	ENST00000369219	ensembl	human	known	74_37	missense	40.00		SNP	0.924	G	4	6
LINC00943	100507206	genome.wustl.edu	37	12	127229808	127229809	+	lincRNA	INS	-	-	T			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr12:127229808_127229809insT	ENST00000535544.1	+	0	1825_1826				LINC00944_ENST00000540684.1_lincRNA					long intergenic non-protein coding RNA 943																		TGACTTCCATGTTTTTTTTAGA	0.342													ENSG00000189238																																					0																																												0						12q24.32	2013-05-30			ENSG00000189238	ENSG00000189238		"""Long non-coding RNAs"""	48639	non-coding RNA	RNA, long non-coding							Standard	NR_038256		Approved				OTTHUMG00000168479		12.37:g.127229816_127229816dupT				R	INS	-	NULL	ENST00000535544.1	37	NULL		12																																																																																				LINC00943	-	-		0.342	LINC00943-002	KNOWN	basic	lincRNA	LINC00943	HGNC	lincRNA	OTTHUMT00000399867.1	0	0		30	30		0.00		-			127229809	+1	3		20		tier1	no_errors	ENST00000345111	ensembl	human	known	74_37	rna	13.04		INS	0.006:0.004	T	3	20
RNF215	200312	genome.wustl.edu	37	22	30783220	30783221	+	In_Frame_Ins	INS	-	-	GCAGCAGCA			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr22:30783220_30783221insGCAGCAGCA	ENST00000382363.3	-	1	156_157	c.82_83insTGCTGCTGC	c.(82-84)ccc>cTGCTGCTGCcc	p.27_28insLLL		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	27						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						cggcagcaggggcagcagcagc	0.851											OREG0026458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000099999																																					0																																										SO:0001652	inframe_insertion	0					CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.74_82dupTGCTGCTGC	22.37:g.30783221_30783229dupGCAGCAGCA	ENSP00000371800:p.Leu25_Leu27dup	819	A6NEL1	In_Frame_Ins	INS	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.28in_frame_insLLL	ENST00000382363.3	37	c.83_82	CCDS33633.1	22																																																																																				RNF215	-	NULL		0.851	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF215	HGNC	protein_coding	OTTHUMT00000320960.1									-	NM_001017981		30783221	-1					tier1	no_errors	ENST00000382363	ensembl	human	known	74_37	in_frame_ins			INS	0.968:0.994	GCAGCAGCA		
HUNK	30811	genome.wustl.edu	37	21	33371479	33371479	+	Silent	SNP	G	G	T			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr21:33371479G>T	ENST00000270112.2	+	11	2487	c.2127G>T	c.(2125-2127)ggG>ggT	p.G709G		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	709					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TGGCCGATGGGGTCAAGACCC	0.587													ENSG00000142149																																					0													63.0	68.0	66.0					21																	33371479		2203	4298	6501	SO:0001819	synonymous_variant	0			-	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.2127G>T	21.37:g.33371479G>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G709	ENST00000270112.2	37	c.2127	CCDS13610.1	21																																																																																			-	HUNK	-	NULL		0.587	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUNK	HGNC	protein_coding	OTTHUMT00000192782.1	0	0		62	62		0.00		G	NM_014586		33371479	+1	52		7		tier1	no_errors	ENST00000270112	ensembl	human	known	74_37	silent	86.67		SNP	0.048	T	52	7
ADAM21P1	145241	genome.wustl.edu	37	14	70714300	70714300	+	RNA	SNP	A	A	G	rs112607032	byFrequency	TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr14:70714300A>G	ENST00000530196.1	-	0	218					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		GACAGTAGCCAGAAATAGACA	0.532													ENSG00000235812																																					0																																												0			-			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714300A>G				R	SNP	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			rs112607032	ADAM21P1	-	-		0.532	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	HGNC	pseudogene	OTTHUMT00000390451.1	0	0		33	33		0.00		A	NG_002467		70714300	-1	4		35		tier1	no_errors	ENST00000530196	ensembl	human	known	74_37	rna	10.26		SNP	0.000	G	4	35
